4.0 Review

Epigenetic regulation of craniofacial development and disease

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

CRISPR/Cas9-Induced Inactivation of the Autism-Risk Gene setd5 Leads to Social Impairments in Zebrafish

Chiara Gabellini et al.

Summary: The haploinsufficiency of the SETD5 gene, a histone methyltransferase, has been identified as a cause of intellectual disability and Autism Spectrum Disorder (ASD). Using zebrafish as a model, researchers found that zebrafish setd5 mutants displayed defective social behavior and indifference to social stimuli, which was rescued by the antipsychotic drug risperidone. These findings suggest that zebrafish setd5 mutants are a promising model for drug screening to reverse behavioral phenotypes.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

Review Genetics & Heredity

Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes

Tadashi Nakagawa et al.

Summary: Genomic analysis has shown that mutations in chromatin regulators genes are common in neurodevelopmental disorders (NDDs), highlighting the significance of chromatin regulation in nervous system development and function. SETD5 mutations have been identified in individuals with IDD23 and some KBG syndrome patients, expanding the understanding of the genetic factors involved in these disorders. Mouse models, such as Setd5 ( +/- ) mice, have been utilized to study the neurobehavioral characteristics and further explore the underlying mechanisms of NDDs.

FRONTIERS IN GENETICS (2023)

Article Multidisciplinary Sciences

baz1b loss-of-function in zebrafish produces phenotypic alterations consistent with the domestication syndrome

Jose V. Torres- Perez et al.

Summary: BAZ1B is a nuclear protein involved in chromatin remodeling, DNA replication and repair, and transcription, and its reduced expression can disrupt neuronal and neural crest development. It has been proposed that variation in BAZ1B activity contributes to morphological and behavioral aspects of domestication by affecting neural crest development. This study used CRISPR/Cas9 gene editing to create baz1b loss-of-function zebrafish and found that these mutants exhibited both craniofacial defects and altered behavioral phenotypes associated with domestication. These findings demonstrate that developmental deficits in baz1b can recapitulate the domestication syndrome in zebrafish.

ISCIENCE (2023)

Article Genetics & Heredity

De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

Andrew T. Timberlake et al.

Summary: Craniosynostosis (CS) is the most common congenital cranial anomaly. Exome sequencing of 526 proband-parent trios with syndromic CS revealed a significant excess of damaging de novo variants (DNVs) in genes intolerant to loss-of-function variation. Several novel genes involved in chromatin modification and remodeling were identified, leading to major implications for genetic testing and counseling.

AMERICAN JOURNAL OF HUMAN GENETICS (2023)

Review Genetics & Heredity

ARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review

Dan Xia et al.

Summary: In this study, a 5-year-7-month-old Chinese female with Coffin-Siris syndrome (CSS) 6 was found to have a de novo 1.563 Mb heterozygous copy number loss at 12q12q13.11, leading to the entire deletion of ARID2. The patient exhibited severe short stature, dysmorphic facial features, global developmental delay, and hypoplastic fingers and toes. The correlation between age and height standard deviation score (SDS) suggests a possibility of growth catch-up.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)

Article Biochemistry & Molecular Biology

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects

Rebekah Tillotson et al.

Summary: ATRX is a chromatin remodelling ATPase that plays a role in transcriptional regulation, DNA damage repair and heterochromatin maintenance. Mutations in the ATRX gene cause ATR-X syndrome, a rare disorder characterized by intellectual disability and various physical abnormalities. The development of a patient-relevant knock-in mouse model carrying the R246C mutation has provided insights into the molecular mechanisms of ATR-X syndrome and offers a platform for testing potential therapies.

HUMAN MOLECULAR GENETICS (2023)

Article Biochemistry & Molecular Biology

Histone acetyltransferase KAT2A modulates neural stem cell differentiation and proliferation by inducing degradation of the transcription factor PAX6

Zhangji Dong et al.

Summary: The proliferation and differentiation of neural stem cells (NSCs) rely on the proper expression and posttranslational modifications of transcription factors. In this study, we demonstrated that inhibition of the histone acetyltransferase KAT2A led to small eyes in developing zebrafish embryos, associated with increased proliferation and apoptosis of NSCs in zebrafish eyes. We found that the elevated level of PAX6 protein mediated this phenotype, and further confirmed that KAT2A negatively regulates PAX6 at the protein level in cultured rat cerebral cortex neural stem cells. Our study revealed that PAX6 is a novel acetylation substrate of KAT2A, and its acetylation promotes ubiquitination and degradation of PAX6. The KAT2A/PAX6 axis plays a crucial role in maintaining a balance between self-renewal and differentiation of NSCs.

JOURNAL OF BIOLOGICAL CHEMISTRY (2023)

Article Genetics & Heredity

SETD5 haploinsufficiency affects mitochondrial compartment in neural cells

Mattia Zaghi et al.

Summary: This study explores the interaction between SETD5 and mitochondrial functions and its importance in neurodevelopmental disorders. The findings suggest that SETD5 haploinsufficiency leads to mitochondrial impairment, characterized by changes in mitochondrial structure, decreased membrane potential and ATP production. Mislocalization of mitochondria in neurons was also observed. These results highlight the potential of targeting mitochondrial activity and dynamics as a therapeutic approach for SETD5-associated disorders.

MOLECULAR AUTISM (2023)

Article Genetics & Heredity

Impaired neurogenesis and neural progenitor fate choice in a human stem cell model of SETBP1 disorder

Lucia F. F. Cardo et al.

Summary: By using CRISPR/Cas9 genome editing technology, researchers generated a SETBP1 deletion model in human embryonic stem cells (hESCs) and found that SETBP1-deficient neural progenitors exhibited extended proliferation and decreased neurogenesis, which was coupled with enhanced activation of Wnt/beta-catenin signaling. Treatment with a Wnt inhibitor restored normal development. This study provides mechanistic insights into the role of SETBP1 in brain development and potential therapeutic strategies.

MOLECULAR AUTISM (2023)

Article Agriculture, Dairy & Animal Science

Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization

Simona Marc et al.

Summary: This article describes a congenital bilateral cleft lip and jaw and an abnormal opening of the penile urethra in a crossbred calf. Clinical examination, computed tomography, and whole genome sequencing were performed to describe and identify a possible cause of the abnormalities. The whole genome investigation indicates the involvement of multiple genes in the birth defects observed in this case.

ANIMALS (2023)

Article Biology

The histone H4K20 methyltransferase SUV4-20H1/KMT5B is required for multiciliated cell differentiation in Xenopus

Alessandro Angerilli et al.

Summary: H4 lysine 20 dimethylation (H4K20me2) is a key histone modification in vertebrate chromatin. Depletion of SUV4-20H1/H2 methyltransferases in Xenopus embryos blocks the deposition of this mark and leads to a severe loss of cilia in multi-ciliated cells (MCC). Knockdown of SUV4-20H1 alone is sufficient to generate the MCC phenotype, indicating its critical role in ciliogenesis. The conversion of H4K20me1 to H4K20me2 by SUV4-20H1 is necessary for the formation of cilia tufts.

LIFE SCIENCE ALLIANCE (2023)

Correction Genetics & Heredity

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology (vol 3, 100102, 2022)

Andrew K. Sobering et al.

HUMAN GENETICS AND GENOMICS ADVANCES (2023)

Article Developmental Biology

PRDM paralogs antagonistically balance Wnt/β-catenin activity during craniofacial chondrocyte differentiation

Lomeli C. Shull et al.

Summary: This study demonstrates that transcription factors and histone methyltransferase proteins Prdm3 and Prdm16 play crucial roles in the differentiation switch of cranial neural crest cells (NCCs) to craniofacial cartilage. The loss of either protein leads to abnormal chondrocyte development, which is regulated by controlling the timing of Wnt/beta-catenin activity and chromatin accessibility. Manipulating Wnt/beta-catenin signaling or generating double mutants of prdm3(-/-) and prdm16(-/-) can rescue craniofacial cartilage defects.

DEVELOPMENT (2022)

Article Genetics & Heredity

Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype

Francesco Saettini et al.

Summary: This study characterizes two patients with Rubinstein-Taybi syndrome (RSTS) carrying the same EP300 variant, and identifies distinct clinical manifestations and immunological features. The findings provide important insights into the pathogenesis and diagnosis of this syndrome.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)

Letter Genetics & Heredity

A novel intragenic DPF2 deletion identified by genome sequencing in an adult with clinical features of Coffin-Siris syndrome

Stella K. MacDonald et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)

Review Biochemistry & Molecular Biology

Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome

Hayden A. M. Hatch et al.

Summary: The availability of genetic testing for individuals with neurodevelopmental disorders has emphasized the significance of genes crucial for nervous system development and function. KDM5C, a gene altered in Claes-Jensen syndrome, is known to regulate transcription through chromatin modification. While the genetic link between KDM5C and cognitive dysfunction is clear, further research is needed to understand how KDM5C controls transcriptional programs in neurons to impact growth and activity.

FEBS JOURNAL (2022)

Correction Cell Biology

The roles of Polycomb repressive complexes in mammalian development and cancer (vol 22, pg 326, 2021)

Andrea Piunti et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2022)

Article Biology

KDM6B interacts with TFDP1 to activate P53 signaling in regulating mouse palatogenesis

Tingwei Guo et al.

Summary: Epigenetic regulation plays a crucial role in diseases and development. This study focuses on the understudied question of how epigenetic changes affect tissue-specific responses during neural crest fate determination and differentiation. Using palatogenesis as a model, the researchers demonstrate the functional significance of the epigenetic regulator KDM6B in regulating cranial neural crest development and its role in the disruption of P53 pathway-mediated activity. The study also reveals the antagonistic control of H3K27me3 on the Trp53 promoter by KDM6B and Ezh2 in neural crest cells. Furthermore, the researchers show that KDM6B specifically interacts with TFDP1 to activate Trp53 expression in palatal mesenchymal cells. These findings provide mechanistic insights into the epigenetic regulatory network during organogenesis.
Article Genetics & Heredity

Autism-associated protein POGZ controls ESCs and ESC neural induction by association with esBAF

Xiaoyun Sun et al.

Summary: This study reveals the important roles of POGZ in maintaining embryonic stem cell identity and up-regulating neural genes during embryonic stem cell differentiation. POGZ functions as both a transcriptional activator and repressor, and its interaction with the SWI-SNF chromatin remodeler complex plays a crucial role in regulating gene expression through epigenetic modifications.

MOLECULAR AUTISM (2022)

Article Physiology

Hdac4 Regulates the Proliferation of Neural Crest-Derived Osteoblasts During Murine Craniofacial Development

Nayoung Ha et al.

Summary: This study reveals that Hdac4 plays a regulatory role in craniofacial skeletal development by positively regulating the proliferation of cranial neural crest cells (CNCC)-derived osteoblasts. Knocking out Hdac4 leads to decreased frontal bone formation and dysregulation of cell cycle-related genes.

FRONTIERS IN PHYSIOLOGY (2022)

Article Pediatrics

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay

Aviva Eliyahu et al.

Summary: The role of lysine methyltransferases and demethylases in chromatin modification regulation is well-established. This study focuses on the association between deleterious variants in the KMT5B gene and developmental disorders such as global developmental delay and intellectual disability. Three unrelated patients with these disorders were found to have distinct de novo mutations in the KMT5B gene. The findings suggest that KMT5B should be considered as a potential gene for the differential diagnosis of neurodevelopmental disorders accompanied by macrocephaly and overgrowth.

FRONTIERS IN PEDIATRICS (2022)

Article Biochemistry & Molecular Biology

Mediating and maintaining methylation while minimizing mutation: Recent advances on mammalian DNA methyltransferases

Xiaodong Cheng et al.

Summary: Mammalian genomes undergo methylation of carbon-5 in cytosines, primarily in CpG dinucleotides, which is crucial for gene expression. DNMT1 and histone modifications play important roles in maintaining methylation patterns during mitosis. Methylation beyond CpG can affect the binding of specific transcription factors, thus influencing gene expression. C-to-T transitions caused by deamination of 5-methylcytosine can be dangerous, as most mutations are detrimental. DNMT3A is involved in de novo DNA methylation during development and is also responsible for mutagenesis in the DNMT3A gene itself, leading to two diseases: DNMT3A overgrowth syndrome and acute myeloid leukemia in clonal hematopoiesis. Recent advancements in targeting DNMT1 therapeutics, the role of the noncatalytic isoform DNMT3B3 in regulating de novo methylation by DNMT3A, and the structural characterization of DNMT3A in different configurations are discussed.

CURRENT OPINION IN STRUCTURAL BIOLOGY (2022)

Article Cell Biology

Craniofacial and cardiac defects in chd7 zebrafish mutants mimic CHARGE syndrome

Yuhan Sun et al.

Summary: Congenital heart defects are common in CHARGE syndrome, a disease caused by mutations in the CHD7 gene. However, heart defects in zebrafish disease models of CHARGE have not been extensively studied. This study describes the occurrence of craniofacial abnormalities and heart defects in zebrafish chd7 mutants, which are enhanced in the maternal zygotic mutant background. The study also investigates the cellular mechanism of CHARGE syndrome using lineage tracing and reveals that cardiac neural crest cells are not affected in chd7 mutant fish. These chd7 fish mutants recapitulate some of the phenotypes seen in CHARGE patients and can be used for further studies on the role of CHD7.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2022)

Article Genetics & Heredity

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome

Cristina Lucia-Campos et al.

Summary: Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by distinctive facial features, growth retardation, and intellectual disability, caused by genetic variants in genes related to the cohesin complex. Copy number variants (CNVs) have been identified as a significant molecular cause of CdLS, with genes such as HDAC8, RAD21, and SMC1A playing a role.
Article Biochemistry & Molecular Biology

ATRX histone binding and helicase activities have distinct roles in neuronal differentiation

Anna Bieluszewska et al.

Summary: This study investigates how ATRX mutations affect neurodifferentiation using engineered mouse embryonic stem cells. The results show that ATRX mutations lead to delayed and compromised neurodifferentiation through separate regulatory pathways, highlighting the important roles of ATRX in neurodevelopment.

NUCLEIC ACIDS RESEARCH (2022)

Article Genetics & Heredity

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Andrew K. Sobering et al.

Summary: Loss-of-function variants in PHF8 cause a rare intellectual disability syndrome characterized by developmental delay, craniofacial dysmorphology, and potentially orofacial clefting. This study expands the clinical phenotype of the syndrome and highlights the association with autism spectrum disorder and attention deficit hyperactivity disorder.

HUMAN GENETICS AND GENOMICS ADVANCES (2022)

Review Biochemistry & Molecular Biology

SATB2: A versatile transcriptional regulator of craniofacial and skeleton development, neurogenesis and tumorigenesis, and its applications in regenerative medicine

Xia Huang et al.

Summary: SATB2 is a transcription regulator that plays important roles in skeletal and craniofacial development, as well as in neural development and cancer progression. It holds great promise as an osteoinductive factor for improving bone defect repair.

GENES & DISEASES (2022)

Article Genetics & Heredity

SETD1B-associated neurodevelopmental disorder

Alexandra Roston et al.

Summary: Rare coding variants in SETD1B can lead to a diagnosable syndrome with shared phenotype of intellectual disability, language delay, conserved musculoskeletal findings, and potentially treatment-refractory seizures. Next-generation sequencing among a cohort of paediatric patients with epilepsy provides supporting evidence for these findings, suggesting that these variants may contribute as a risk factor for epilepsy, autism, and other neurodevelopmental phenotypes. Longitudinal studies are needed to further understand the role of SETD1B in neurodevelopmental disorders and other systemic diseases.

JOURNAL OF MEDICAL GENETICS (2021)

Article Developmental Biology

Using an aquatic model,Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders

Brent H. Wyatt et al.

Summary: Chd1 gene deficiency in the aquatic model organism Xenopus laevis leads to craniofacial defects, indicating the critical role of Chd1 in craniofacial development.

GENESIS (2021)

Review Genetics & Heredity

COMPASS and SWI/SNF complexes in development and disease

Bercin K. Cenik et al.

Summary: Trithorax group proteins, including COMPASS histone H3 lysine 4 methyltransferase complexes and SWI/SNF chromatin remodelling complexes, play crucial roles in gene regulation, development, and disease. Misregulation of these complexes through genetic abnormalities can lead to pathologies such as developmental disorders and malignancies.

NATURE REVIEWS GENETICS (2021)

Review Biochemistry & Molecular Biology

BRD4 in physiology and pathology: ''BET'' on its partners

Yin Liang et al.

Summary: BRD4, a member of the BET family, plays important roles in transcription, replication, DNA repair, and various physiological processes. It is also implicated in driving diverse diseases such as cancer, viral infection, inflammation, and neurological disorders. Inhibiting BRD4 functions with BETis can suppress cancer progression, and current research is focused on the development of BET inhibitors.

BIOESSAYS (2021)

Review Genetics & Heredity

Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review

Soyoung Bae et al.

Summary: ARTHS, caused by a pathogenic variant of KAT6A, is an autosomal dominant genetic disorder characterized by developmental delay, dysmorphic facial appearance, cardiac anomalies, and gastrointestinal problems.

BMC MEDICAL GENOMICS (2021)

Article Biochemistry & Molecular Biology

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Meena Balasubramanian et al.

Summary: Witteveen-Kolk syndrome, caused by heterozygous loss-of-function variants in SIN3A, presents with mild intellectual disability, growth issues, and feeding difficulties. A multidisciplinary approach involving a geneticist, paediatrician, and neurologist is recommended for management of these patients, who may also exhibit other neurological symptoms such as seizures and hypotonia.

EUROPEAN JOURNAL OF HUMAN GENETICS (2021)

Article Developmental Biology

Profiling NSD3-dependent neural crest gene expression reveals known and novel candidate regulatory factors

Bridget T. Jacques-Fricke et al.

Summary: The lysine methyltransferase NSD3 is crucial for neural crest development, affecting the expression of 674 genes. Novel genes associated with neural crest development, Astn1, Disp3, and Tpm1, were identified, and the transcriptional consequences of NSD3 also have implications for cancer.

DEVELOPMENTAL BIOLOGY (2021)

Article Genetics & Heredity

BRD4 orchestrates genome folding to promote neural crest differentiation

Ricardo Linares-Saldana et al.

Summary: Depletion of BRD4 reduces the chromatin occupancy of NIPBL, affecting genome folding and neural crest differentiation. Results indicate that BRD4 plays a crucial role in regulating the differentiation of neural crest progenitors and maintaining chromatin stability by interacting with NIPBL.

NATURE GENETICS (2021)

Article Multidisciplinary Sciences

Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders

Luca Pagliaroli et al.

Summary: The ARID1B subunit of the BAF chromatin remodeling complex is crucial for neurodevelopment and its dysfunction is associated with Coffin-Siris syndrome. Research shows that there is a transition from ARID1A-containing complexes to ARID1B during cranial neural crest cell differentiation, which regulates pluripotency exit and lineage commitment by coordinating the NANOG and SOX2 networks. Failure in this transition can lead to impaired CNCC formation in Coffin-Siris patients, suggesting a pathogenic mechanism for the syndrome.

NATURE COMMUNICATIONS (2021)

Article Genetics & Heredity

Kabuki Syndrome: Identification of Two Novel Variants in KMT2Dand KDM6A

Mehrnoosh Khodaeian et al.

Summary: Kabuki syndrome is a rare genetic disorder characterized by dysmorphic facial features, growth retardation, skeletal abnormalities, intellectual disability, and dermatoglyphic malformations. Mutations in the KMT2D and KDM6A genes are identified as the major causes of KS.

MOLECULAR SYNDROMOLOGY (2021)

Article Cell Biology

Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes

Eirene Markenscoff-Papadimitriou et al.

Summary: Deleterious genetic variants in POGZ are strongly associated with ASD and affect the expression of synaptic genes and chromatin states, playing a role in neurodevelopment.

CELL REPORTS (2021)

Article Genetics & Heredity

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Paolo Zanoni et al.

Summary: Variants in the NSD2 gene can lead to a milder phenotype overlapping with WHS, characterized by mild developmental delay, prenatal growth retardation, low BMI, and distinct facial features. Patients with missense variants tend to be taller and have more frequent behavioral/psychological issues compared to those with truncating variants.

GENETICS IN MEDICINE (2021)

Review Cell Biology

The roles of Polycomb repressive complexes in mammalian development and cancer

Andrea Piunti et al.

Summary: Polycomb repressive complex 1 (PRC1) and PRC2, histone modifiers, play important roles in development and disease, especially cancer. Recent studies have revealed the existence of various mutually exclusive PRC1 and PRC2 variants, providing new insights into their molecular functions and physiological importance.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2021)

Article Genetics & Heredity

Critical role of the BAF chromatin remodeling complex during murine neural crest development

Kathleen Wung Bi-Lin et al.

Summary: The BAF complex is crucial for the proliferation, survival, and differentiation of neural crest cells (NCCs), with specific deletion of BAF155/BAF170 leading to embryonic lethality and various developmental defects. The complex modulates the expression of multiple signaling pathway genes essential for NCC development, demonstrating an important role in the gene regulatory network.

PLOS GENETICS (2021)

Article Developmental Biology

The lysine methyltransferase SETD2 is a dynamically expressed regulator of early neural crest development

Julaine Roffers-Agarwal et al.

Summary: SETD2 is crucial for early neural crest development as its activity plays a vital role in regulating neural crest cell fate and migration. The expression of SetD2 is dynamic during neural tissue regionalization, with a peak in premigratory neural crest cells before being downregulated prior to migration. The disruption of SETD2 activity impacts premigratory Sox10 expression and neural crest migration, emphasizing the importance of lysine methylation in neural crest regulation.

GENESIS (2021)

Article Genetics & Heredity

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J. A. Weerts et al.

Summary: This study provides further characterization of the SETD1B-related syndrome by analyzing an expanded cohort of 36 individuals with SETD1B sequence variants. The results show evidence for a loss-of-function mechanism of SETD1B variants, leading to a core clinical phenotype of global developmental delay, language delay, intellectual disability, autism, behavioral issues, and variable epilepsy phenotypes. Insights from this study may help in counseling newly diagnosed patients with the SETD1B-related syndrome.

GENETICS IN MEDICINE (2021)

Article Dermatology

A case report of PHF6 mosaicism: Beyond the classic Borjeson-Forssman-Lehmann syndrome

Cristina Garcia-Melendo et al.

Summary: This case report describes a 6-year-old female diagnosed with a novel pathogenic splicing variant in PHF6, leading to linear skin hyperpigmentation, intellectual disability, dysplastic teeth and nails, and facial dysmorphism. Unlike males with PHF6 mutations linked to Borjeson-Forssman-Lehmann, females exhibit a distinct phenotype which may be modulated by X-inactivation.

PEDIATRIC DERMATOLOGY (2021)

Article Multidisciplinary Sciences

Developmental chromatin programs determine oncogenic competence in melanoma

Arianna Baggiolini et al.

Summary: The intrinsic transcriptional program present in the cell of origin plays a key role in the transforming ability of oncogenes like BRAF(V600E), with developmental chromatin factors mediating oncogenic competence and allowing for proper response to oncogenes.

SCIENCE (2021)

Article Multidisciplinary Sciences

Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome

Amanda M. Smith et al.

Summary: Germline pathogenic variants in DNMT3A can lead to overgrowth syndrome, with behavioral and hematopoietic phenotypes. Using a mouse model, researchers found that this mutation may be associated with alterations in DNA methylation.

NATURE COMMUNICATIONS (2021)

Review Pediatrics

A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review

Weiqing Zhao et al.

Summary: The case describes a 7-month-old girl with Bohring-Opitz syndrome who exhibited severe pulmonary infection, developmental delay, and a newly identified de novo heterozygous mutation in the ASXL1 gene. Unlike most patients with ASXL1 mutations, this patient did not show certain common characteristics of BOS. The new data expands the phenotype of BOS driven by ASXL1 and may help in more accurately delineating the phenotypes caused by variants of this gene.

FRONTIERS IN PEDIATRICS (2021)

Article Genetics & Heredity

Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome

Sukun Luo et al.

Summary: Three novel pathogenic KMT2A gene variants were identified in three unrelated Chinese WSS patients. In addition to common symptoms, these patients displayed sporadically observed symptoms. Variants in different KMT2A regions contribute to the phenotypic heterogeneity of WSS, posing challenges in diagnosis of syndromic disorders.

MOLECULAR GENETICS & GENOMIC MEDICINE (2021)

Article Genetics & Heredity

A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome

Catia Mio et al.

Summary: A novel Thr119Arg mutation in HDAC8 was identified in a 2-year-old female child, leading to a diagnosis of non-classic CdLS. This mutation was classified as pathogenic and was found to have deleterious effects on the structure and function of the HDAC8 protein.

MOLECULAR GENETICS & GENOMIC MEDICINE (2021)

Review Biochemistry & Molecular Biology

BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome

Pablo Garcia-Gutierrez et al.

Summary: CdLS is a human developmental syndrome that may be a transcriptomopathy related to transcriptional regulation, altered cohesin complex function, and mutations in NIPBL. The pathogenesis of CdLS is likely primarily based on changes in gene expression programs.

FRONTIERS IN MOLECULAR BIOSCIENCES (2021)

Article Pediatrics

A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis

Fady P. Marji et al.

Summary: De novo heterozygous mutations in the KAT6A gene result in a distinct intellectual disability syndrome characterized by speech delay, cardiac anomalies, craniofacial dysmorphisms, and craniosynostosis. A 16-year-old girl with a novel pathogenic variant of the KAT6A gene was reported here, presenting with pancraniosynostosis affecting all major cranial sutures. Diagnosis of KAT6A syndrome relies on recognition of its phenotypic features and the use of whole exome sequencing, with prompt operative intervention for craniosynostosis being crucial to prevent detrimental outcomes.

JOURNAL OF PEDIATRIC GENETICS (2021)

Article Genetics & Heredity

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)

Nurit Assia Batzir et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)

Article Developmental Biology

The conserved and divergent roles of Prdm3 and Prdm16 in zebrafish and mouse craniofacial development

Lomeli Carpio Shull et al.

DEVELOPMENTAL BIOLOGY (2020)

Article Biochemistry & Molecular Biology

The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration

Janina Schwenty-Lara et al.

HUMAN MOLECULAR GENETICS (2020)

Article Developmental Biology

GCN5 acetylation is required for craniofacial chondrocyte maturation

Sofia A. Pezoa et al.

DEVELOPMENTAL BIOLOGY (2020)

Article Physiology

Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos

Hava Lichtig et al.

FRONTIERS IN PHYSIOLOGY (2020)

Article Biochemistry & Molecular Biology

Inhibition of the epigenetic suppressor EZH2 primes osteogenic differentiation mediated by BMP2

Amel Dudakovic et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2020)

Article Clinical Neurology

SETD5Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

Milena Crippa et al.

FRONTIERS IN NEUROLOGY (2020)

Review Pharmacology & Pharmacy

The key roles of the lysine acetyltransferases KAT6A and KAT6B in physiology and pathology

Naama Wiesel-Motiuk et al.

DRUG RESISTANCE UPDATES (2020)

Review Developmental Biology

Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex

Susan M. Motch Perrine et al.

JOURNAL OF DEVELOPMENTAL BIOLOGY (2020)

Editorial Material Genetics & Heredity

Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome

Yoko Narumi-Kishimoto et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2019)

Article Genetics & Heredity

Mutation update for the SATB2 gene

Yuri A. Zarate et al.

HUMAN MUTATION (2019)

Article Cell & Tissue Engineering

Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest Development

Friederike Matheus et al.

STEM CELL REPORTS (2019)

Article Genetics & Heredity

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

Eric Chater-Diehl et al.

BMC MEDICAL GENOMICS (2019)

Article Genetics & Heredity

De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype

Yanrui Jiang et al.

BMC MEDICAL GENETICS (2019)

Article Biochemistry & Molecular Biology

Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome

Maria de los Angeles Serrano et al.

PLOS BIOLOGY (2019)

Article Multidisciplinary Sciences

Catalytically inactive Dnmt3b rescues mouse embryonic development by accessory and repressive functions

Pawel Nowialis et al.

NATURE COMMUNICATIONS (2019)

Article Multidisciplinary Sciences

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

Monica Frega et al.

NATURE COMMUNICATIONS (2019)

Article Medicine, General & Internal

Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay

Cinthya Zepeda-Mendoza et al.

CLINICAL CASE REPORTS (2019)

Article Dentistry, Oral Surgery & Medicine

SATB2-associated syndrome (SAS) and associated dental findings

John Scott et al.

SPECIAL CARE IN DENTISTRY (2019)

Article Endocrinology & Metabolism

Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity

Julian C. Lui et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Article Genetics & Heredity

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

Genay O. Pilarowski et al.

JOURNAL OF MEDICAL GENETICS (2018)

Article Genetics & Heredity

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

Georgia Vasileiou et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Genetics & Heredity

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Victor Faundes et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Genetics & Heredity

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome

Maartje C. van Rij et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)

Article Biochemistry & Molecular Biology

Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish

Aswini Babu et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2018)

Article Cell Biology

A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome

Xueren Gao et al.

CELLULAR PHYSIOLOGY AND BIOCHEMISTRY (2018)

Review Developmental Biology

Genetic variations on SETD5 underlying autistic conditions

Isabella R. Fernandes et al.

DEVELOPMENTAL NEUROBIOLOGY (2018)

Article Biochemistry & Molecular Biology

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs

Thantrira Porntaveetus et al.

INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES (2018)

Article Biochemistry & Molecular Biology

Enhancer of zeste homolog 2 (Ezh2) controls bone formation and cell cycle progression during osteogenesis in mice

Amel Dudakovic et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2018)

Review Genetics & Heredity

Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria

Wei-Liang Liu et al.

JOURNAL OF GENETICS (2018)

Article Multidisciplinary Sciences

SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub

Rocco Piazza et al.

NATURE COMMUNICATIONS (2018)

Article Cell Biology

High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development

Andrea Wilderman et al.

CELL REPORTS (2018)

Review Developmental Biology

The beginnings of the neural crest

Nicole M. Le Douarin et al.

DEVELOPMENTAL BIOLOGY (2018)

Article Genetics & Heredity

Patients with SATB2-associated syndrome exhibiting multiple odontomas

Takashi Kikuiri et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)

Article Genetics & Heredity

Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2)

Nicole J. Boczek et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)

Article Medicine, Research & Experimental

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome

Daniel C. Koboldt et al.

COLD SPRING HARBOR MOLECULAR CASE STUDIES (2018)

Article Genetics & Heredity

Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome

Yu Sun et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)

Article Genetics & Heredity

New SMARCA2 Mutation in a Patient with Nicolaides-Baraitser Syndrome and Myoclonic Astatic Epilepsy

S. Tang et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)

Review Genetics & Heredity

SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations

Yuri A. Zarate et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)

Article Biochemistry & Molecular Biology

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Alma Kuechler et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2017)

Article Dentistry, Oral Surgery & Medicine

Methyltransferase G9A Regulates Osteogenesis via Twist Gene Repression

N. Higashihori et al.

JOURNAL OF DENTAL RESEARCH (2017)

Article Genetics & Heredity

CTCF deletion syndrome: clinical features and epigenetic delineation

Ikumi Hori et al.

JOURNAL OF MEDICAL GENETICS (2017)

Article Biochemistry & Molecular Biology

Chd2 regulates chromatin for proper gene expression toward differentiation in mouse embryonic stem cells

Yuichiro Semba et al.

NUCLEIC ACIDS RESEARCH (2017)

Article Multidisciplinary Sciences

UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome

Karl B. Shpargel et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

Article Multidisciplinary Sciences

Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development

Jeremie Vitte et al.

NATURE COMMUNICATIONS (2017)

Article Medicine, Research & Experimental

ATRX and DAXX: Mechanisms and Mutations

Michael A. Dyer et al.

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2017)

Article Neurosciences

Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders

Godwin Sokpor et al.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2017)

Article Genetics & Heredity

Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism

Chisei Satoh et al.

HUMAN GENOME VARIATION (2017)

Article Cell Biology

Generation of a multipurpose Prdm16 mouse allele by targeted gene trapping

Alexander Strassman et al.

DISEASE MODELS & MECHANISMS (2017)

Correction Genetics & Heredity

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Article Genetics & Heredity

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Genetics & Heredity

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Holly A. F. Stessman et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Genetics & Heredity

SETD5 Loss-of-Function Mutation as a Likely Cause of a Familial Syndromic Intellectual Disability with Variable Phenotypic Expression

Krzysztof Szczaluba et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)

Article Developmental Biology

The SWI/SNF BAF-A complex is essential for neural crest development

Ronald L. Chandler et al.

DEVELOPMENTAL BIOLOGY (2016)

Article Genetics & Heredity

A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment

Ammar Zaghlool et al.

HUMAN MUTATION (2016)

Article Biochemistry & Molecular Biology

PRDM16 Suppresses MLL1r Leukemia via Intrinsic Histone Methyltransferase Activity

Bo Zhou et al.

MOLECULAR CELL (2016)

Review Genetics & Heredity

The molecular hallmarks of epigenetic control

C. David Allis et al.

NATURE REVIEWS GENETICS (2016)

Review Biochemistry & Molecular Biology

Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders

Matthew A. Deardorff et al.

PROTEIN SCIENCE (2016)

Article Genetics & Heredity

POGZ truncating alleles cause syndromic intellectual disability

Janson White et al.

GENOME MEDICINE (2016)

Article Multidisciplinary Sciences

Euchromatin histone methyltransferase 1 regulates cortical neuronal network development

Marijn Bart Martens et al.

SCIENTIFIC REPORTS (2016)

Article Genetics & Heredity

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Emma Tham et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Biochemistry & Molecular Biology

Retinoic acid inhibits histone methyltransferase Whsc1 during palatogenesis

Shiying Liu et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2015)

Correction Biochemistry & Molecular Biology

WSTF does it all: a multifunctional protein in transcription, repair, and replication (vol 89, pg 12, 2011)

Chris Barnett et al.

BIOCHEMISTRY AND CELL BIOLOGY (2015)

Article Developmental Biology

Med14 cooperates with brg1 in the differentiation of skeletogenic neural crest

Xin Lou et al.

BMC DEVELOPMENTAL BIOLOGY (2015)

Article Clinical Neurology

CHD2 variants are a risk factor for photosensitivity in epilepsy

Elizabeth C. Galizia et al.

Review Developmental Biology

Establishing neural crest identity: a gene regulatory recipe

Marcos Simoes-Costa et al.

DEVELOPMENT (2015)

Article Biochemistry & Molecular Biology

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development

Peter M. Van Laarhoven et al.

HUMAN MOLECULAR GENETICS (2015)

Article Biochemistry & Molecular Biology

Epigenetic Control of Skeletal Development by the Histone Methyltransferase Ezh2

Amel Dudakovic et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2015)

Review Biology

Influence of environmental exposure on human epigenetic regulation

Carmen J. Marsit

JOURNAL OF EXPERIMENTAL BIOLOGY (2015)

Review Multidisciplinary Sciences

Evolution of vertebrates as viewed from the crest

Stephen A. Green et al.

NATURE (2015)

Article Cell Biology

Pleiotrophin fights Brd2 for neuronal differentiation

Pablo Garcia-Gutierrez et al.

NEURAL REGENERATION RESEARCH (2015)

Article Biochemistry & Molecular Biology

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Alma Kuechler et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Psychology, Developmental

Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy

Heidi S. Lumish et al.

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2015)

Article Medicine, Research & Experimental

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

Yizhou Ye et al.

COLD SPRING HARBOR MOLECULAR CASE STUDIES (2015)

Article Genetics & Heredity

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome

Sanjin Tunovic et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)

Article Genetics & Heredity

Coffin-Siris syndrome: Phenotypic evolution of a novel SMARCA4 mutation

Michael Tzeng et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)

Article Genetics & Heredity

Females With de novo Aberrations in PHF6: Clinical Overlap of Borjeson-Forssman-Lehmann With Coffin-Siris Syndrome

Christiane Zweier et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2014)

Article Genetics & Heredity

Numerous BAF Complex Genes are Mutated in Coffin-Siris Syndrome

Noriko Miyake et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2014)

Article Genetics & Heredity

Phenotype and Genotype in Nicolaides-Baraitser Syndrome

Sergio B. Sousa et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2014)

Article Genetics & Heredity

Genotype-Phenotype Correlation of Coffin-Siris Syndrome Caused by Mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

Tomoki Kosho et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2014)

Editorial Material Genetics & Heredity

Coffin-Siris Syndrome and Related Disorders Involving Components of the BAF (mSWI/SNF) Complex: Historical Review and Recent Advances Using Next Generation Sequencing

Tomoki Kosho et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2014)

Article Genetics & Heredity

Coffin-Siris syndrome is a SWI/SNF complex disorder

Y. Tsurusaki et al.

CLINICAL GENETICS (2014)

Article Developmental Biology

Ezh2 is required for neural crest-derived cartilage and bone formation

Daniel Schwarz et al.

DEVELOPMENT (2014)

Review Developmental Biology

Epigenetic regulation in neural crest development

Na Hu et al.

DEVELOPMENTAL BIOLOGY (2014)

Article Developmental Biology

A gene expression atlas of early craniofacial development

Eric W. Brunskill et al.

DEVELOPMENTAL BIOLOGY (2014)

Article Biochemistry & Molecular Biology

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Sureni V. Mullegama et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2014)

Article Biochemistry & Molecular Biology

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

Jacqueline K. Rainger et al.

HUMAN MOLECULAR GENETICS (2014)

Article Cell Biology

Pleiotrophin antagonizes Brd2 during neuronal differentiation

Pablo Garcia-Gutierrez et al.

JOURNAL OF CELL SCIENCE (2014)

Article Genetics & Heredity

Mutations in SETD2 cause a novel overgrowth condition

Armelle Luscan et al.

JOURNAL OF MEDICAL GENETICS (2014)

Article Cell Biology

Neural crest specification and migration independently require NSD3-related lysine methyltransferase activity

Bridget T. Jacques-Fricke et al.

MOLECULAR BIOLOGY OF THE CELL (2014)

Article Multidisciplinary Sciences

DNA methyltransferase 3B regulates duration of neural crest production via repression of Sox10

Na Hu et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)

Article Genetics & Heredity

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

Anne Gregor et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Genetics & Heredity

MLL2 and KDM6A Mutations in Patients With Kabuki Syndrome

Noriko Miyake et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)

Article Genetics & Heredity

Deletion of 3p25.3 in a Patient With Intellectual Disability and Dysmorphic Features With Further Definition of a Critical Region

Gregory Kellogg et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)

Article Genetics & Heredity

Weaver Syndrome and EZH2 Mutations: Clarifying the Clinical Phenotype

Katrina Tatton-Brown et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)

Article Cell Biology

Gene expression changes in the secondary palate and mandible of Prdm16 -/- mice

Dennis R. Warner et al.

CELL AND TISSUE RESEARCH (2013)

Article Dentistry, Oral Surgery & Medicine

ChIP-Chip Identifies SEC23A, CFDP1, and NSD1 as TFII-I Target Genes in Human Neural Crest Progenitor Cells

Aleksandr V. Makeyev et al.

CLEFT PALATE-CRANIOFACIAL JOURNAL (2013)

Article Developmental Biology

Murine craniofacial development requires Hdac3-mediated repression of Msx gene expression

Nikhil Singh et al.

DEVELOPMENTAL BIOLOGY (2013)

Article Developmental Biology

Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome

Stephanie A. Balow et al.

DEVELOPMENTAL BIOLOGY (2013)

Article Anatomy & Morphology

Redundant roles of PRDM family members in zebrafish craniofacial development

Hai-Lei Ding et al.

DEVELOPMENTAL DYNAMICS (2013)

Article Biochemistry & Molecular Biology

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

Pablo Villavicencio-Lorini et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2013)

Article Biochemistry & Molecular Biology

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

Celine Bonnet et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2013)

Article Genetics & Heredity

KDM6A Point Mutations Cause Kabuki Syndrome

Noriko Miyake et al.

HUMAN MUTATION (2013)

Article Genetics & Heredity

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W. E. Santen et al.

HUMAN MUTATION (2013)

Review Neurosciences

DNA Methylation and Its Basic Function

Lisa D. Moore et al.

NEUROPSYCHOPHARMACOLOGY (2013)

Article Multidisciplinary Sciences

The Polycomb Group Protein Ring1b/Rnf2 Is Specifically Required for Craniofacial Development

Yme U. van der Velden et al.

PLOS ONE (2013)

Article Multidisciplinary Sciences

Brg1 governs distinct pathways to direct multiple aspects of mammalian neural crest cell development

Wei Li et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Article Dentistry, Oral Surgery & Medicine

KDM6B epigenetically regulates odontogenic differentiation of dental mesenchymal stem cells

Juan Xu et al.

INTERNATIONAL JOURNAL OF ORAL SCIENCE (2013)

Article Genetics & Heredity

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

Wendy D. Jones et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

Damien Lederer et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

Michael A. Simpson et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

Philippe M. Campeau et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Biochemistry & Molecular Biology

Brd2 is required for cell cycle exit and neuronal differentiation through the E2F1 pathway in mouse neuroepithelial cells

Mami Tsume et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2012)

Editorial Material Developmental Biology

Preface: the neural crest-From stem cell formation to migration and differentiation

Marianne E. Bronner et al.

DEVELOPMENTAL BIOLOGY (2012)

Review Developmental Biology

Development and evolution of the neural crest: An overview

Marianne E. Bronner et al.

DEVELOPMENTAL BIOLOGY (2012)

Article Biochemistry & Molecular Biology

Role of DNMT3B in the regulation of early neural and neural crest specifiers

Kristen Martins-Taylor et al.

EPIGENETICS (2012)

Article Genetics & Heredity

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability

Katrin Ounap et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2012)

Article Biochemistry & Molecular Biology

Essential Role of ARID2 Protein-containing SWI/SNF Complex in Tissue-specific Gene Expression

Fuhua Xu et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2012)

Article Cell Biology

A PHD12-Snail2 repressive complex epigenetically mediates neural crest epithelial-to-mesenchymal transition

Pablo H. Strobl-Mazzulla et al.

JOURNAL OF CELL BIOLOGY (2012)

Article Cell Biology

Querkopf is a key marker of self-renewal and multipotency of adult neural stem cells

Bilal N. Sheikh et al.

JOURNAL OF CELL SCIENCE (2012)

Article Multidisciplinary Sciences

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Matthew A. Deardorff et al.

NATURE (2012)

Article Genetics & Heredity

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Jeroen K. J. Van Houdt et al.

NATURE GENETICS (2012)

Article Genetics & Heredity

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki et al.

NATURE GENETICS (2012)

Article Developmental Biology

Williams Syndrome Transcription Factor is critical for neural crest cell function in Xenopus laevis

Chris Barnett et al.

MECHANISMS OF DEVELOPMENT (2012)

Article Multidisciplinary Sciences

DNA Methyltransferase 3b Is Dispensable for Mouse Neural Crest Development

Bridget T. Jacques-Fricke et al.

PLOS ONE (2012)

Article Multidisciplinary Sciences

Sotos Syndrome Is Associated with Deregulation of the MAPK/ERK-Signaling Pathway

Remco Visser et al.

PLOS ONE (2012)

Article Genetics & Heredity

Craniofacial and oral features of Sotos syndrome: Differences in patients with submicroscopic deletion and mutation of NSD1 gene

Norimitsu Hirai et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Article Biochemistry & Molecular Biology

WSTF does it all: a multifunctional protein in transcription, repair, and replication

Chris Barnett et al.

BIOCHEMISTRY AND CELL BIOLOGY (2011)

Review Cell Biology

Regulation of chromatin by histone modifications

Andrew J. Bannister et al.

CELL RESEARCH (2011)

Article Neurosciences

Fbxl10/Kdm2b deficiency accelerates neural progenitor cell death and leads to exencephaly

Tsuyoshi Fukuda et al.

MOLECULAR AND CELLULAR NEUROSCIENCE (2011)

Article Genetics & Heredity

Two Patients With EP300 Mutations and Facial Dysmorphism Different From the Classic Rubinstein-Taybi Syndrome

Oliver Bartsch et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)

Review Cell Biology

Assembling Neural Crest Regulatory Circuits into a Gene Regulatory Network

Paola Betancur et al.

ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY, VOL 26 (2010)

Editorial Material Biochemistry & Molecular Biology

SnapShot: Neural Crest

Tatjana Sauka-Spengler et al.

Article Cell Biology

Histone Demethylase JmjD2A Regulates Neural Crest Specification

Pablo Hernan Strobl-Mazzulla et al.

DEVELOPMENTAL CELL (2010)

Article Biochemistry & Molecular Biology

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Bregje W. M. van Bon et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2010)

Article Biochemistry & Molecular Biology

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

Stephen R. Williams et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2010)

Article Biochemistry & Molecular Biology

Prdm16 is required for normal palatogenesis in mice

Bryan C. Bjork et al.

HUMAN MOLECULAR GENETICS (2010)

Article Biochemistry & Molecular Biology

Dnmt3 and G9a Cooperate for Tissue-specific Development in Zebrafish

Kunal Rai et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2010)

Article Biochemistry & Molecular Biology

DNA Methylation in Embryonic Stem Cells

Gulsah Altun et al.

JOURNAL OF CELLULAR BIOCHEMISTRY (2010)

Article Multidisciplinary Sciences

CHD7 cooperates with PBAF to control multipotent neural crest formation

Ruchi Bajpai et al.

NATURE (2010)

Article Genetics & Heredity

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen et al.

NATURE GENETICS (2010)

Article Genetics & Heredity

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Sarah B. Ng et al.

NATURE GENETICS (2010)

Article Genetics & Heredity

Further Clinical Delineation of the Borjeson-Forssman-Lehmann Syndrome in Patients with PHF6 Mutations

Melissa T. Carter et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)

Article Biochemistry & Molecular Biology

The chromatin-targeting protein Brd2 is required for neural tube closure and embryogenesis

Aron Gyuris et al.

BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS (2009)

Review Biochemistry & Molecular Biology

Sin3: Master scaffold and transcriptional corepressor

Adrienne Grzenda et al.

BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS (2009)

Article Anatomy & Morphology

Double Bromodomain-Containing Gene Brd2 Is Essential for Embryonic Development in Mouse

Enyuan Shang et al.

DEVELOPMENTAL DYNAMICS (2009)

Article Genetics & Heredity

4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate

Jill Urquhart et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)

Article Cell Biology

Epigenetic control of skull morphogenesis by histone deacetylase 8

Michael Haberland et al.

GENES & DEVELOPMENT (2009)

Article Biochemistry & Molecular Biology

DNA methylation differences after exposure to prenatal famine are common and timing- and sex-specific

Elmar W. Tobi et al.

HUMAN MOLECULAR GENETICS (2009)

Article Developmental Biology

CBP/p300 and associated transcriptional co-activators exhibit distinct expression patterns during murine craniofacial and neural tube development

Vasker Bhattacherjee et al.

INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY (2009)

Article Cell Biology

BCOR regulates mesenchymal stem cell function by epigenetic mechanisms

Zhipeng Fan et al.

NATURE CELL BIOLOGY (2009)

Article Multidisciplinary Sciences

An embryonic stem cell chromatin remodeling complex, esBAF, is essential for embryonic stem cell self-renewal and pluripotency

Lena Ho et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)

Article Genetics & Heredity

Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis

Shashikant Kulkarni et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

Article Anatomy & Morphology

Discovery of transcription factors and other candidate regulators of neural crest development

Meghan S. Adams et al.

DEVELOPMENTAL DYNAMICS (2008)

Review Cell Biology

A gene regulatory network orchestrates neural crest formation

Tatjana Sauka-Spengler et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2008)

Article Multidisciplinary Sciences

The Histone H3 Lysine 27-Specific Demethylase Jmjd3 Is Required for Neural Commitment

Thomas Burgold et al.

PLOS ONE (2008)

Article Multidisciplinary Sciences

Persistent epigenetic differences associated with prenatal exposure to famine in humans

Bastiaan T. Heijmans et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Review Biochemistry & Molecular Biology

Mammalian DNA methyltransferases: A structural perspective

Xiaodong Cheng et al.

STRUCTURE (2008)

Article Biochemistry & Molecular Biology

The JMJD2 members of histone demethylase revisited

Haidong Tan et al.

MOLECULAR BIOLOGY REPORTS (2008)

Article Biochemistry & Molecular Biology

Partial duplications of the ATRX gene cause the ATR-X syndrome

Bernard Thienpont et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2007)

Review Multidisciplinary Sciences

The complex language of chromatin regulation during transcription

Shelley L. Berger

NATURE (2007)

Review Biochemistry & Molecular Biology

Chromatin modifications and their function

Tony Kouzarides

Article Biochemistry & Molecular Biology

Functional analysis of CBP/p300 in embryonic orofacial mesenchymal cells

D. R. Warner et al.

JOURNAL OF CELLULAR BIOCHEMISTRY (2006)

Article Pharmacology & Pharmacy

Chromatin structure and epigenetics

A. S. Quina et al.

BIOCHEMICAL PHARMACOLOGY (2006)

Article Genetics & Heredity

High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts

J. W. Park et al.

JOURNAL OF MEDICAL GENETICS (2006)

Article Developmental Biology

Cloning and developmental expression of WSTF during Xenopus laevis embryogenesis

R Cus et al.

GENE EXPRESSION PATTERNS (2006)

Article Genetics & Heredity

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

SR Lalani et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2006)

Article Biochemistry & Molecular Biology

Multiple mutations in mouse Chd7 provide models for CHARGE syndrome

EA Bosman et al.

HUMAN MOLECULAR GENETICS (2005)

Article Biochemistry & Molecular Biology

Mammalian polyhomeotic homologues Phc2 and Phc1 act in synergy to mediate polycomb repression of Hox genes

K Isono et al.

MOLECULAR AND CELLULAR BIOLOGY (2005)

Article Genetics & Heredity

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome

YL Jiang et al.

HUMAN MUTATION (2005)

Review Developmental Biology

moz regulates Hox expression and pharyngeal segmental identity in zebrafish

CT Miller et al.

DEVELOPMENT (2004)

Article Biochemistry & Molecular Biology

Identification of SATB2 as the cleft palate gene on 2q32-q33

DR FitzPatrick et al.

HUMAN MOLECULAR GENETICS (2003)

Article Biochemistry & Molecular Biology

NSD1 is essential for early post-implantation development and has a catalytically active SET domain

GV Rayasam et al.

EMBO JOURNAL (2003)

Article Genetics & Heredity

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

M Rio et al.

JOURNAL OF MEDICAL GENETICS (2003)

Article Biochemistry & Molecular Biology

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

S Turkmen et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2003)

Article Genetics & Heredity

Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome

KM Lower et al.

NATURE GENETICS (2002)

Article Biochemistry & Molecular Biology

DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes

M Ehrlich et al.

HUMAN MOLECULAR GENETICS (2001)

Article Biochemistry & Molecular Biology

Pf1, a novel PHD zinc finger protein that links the TLE corepressor to the mSin3A-histone deacetylase complex

GS Yochum et al.

MOLECULAR AND CELLULAR BIOLOGY (2001)

Article Biochemistry & Molecular Biology

The Polycomb-group gene Ezh2 is required for early mouse development

D O'Carroll et al.

MOLECULAR AND CELLULAR BIOLOGY (2001)

Article Cell Biology

DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients

CM Tuck-Muller et al.

CYTOGENETICS AND CELL GENETICS (2000)