4.5 Article

Pathogenic KDM5B variants in the context of developmental disorders

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 Clinical Neurology

A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster

Giuseppe Donato Mangano et al.

Summary: The histone demethylase family is important in neurodevelopmental disorders. This study reports a patient with two new mutations associated with dysmorphisms, intellectual and motor disorders, and epilepsy.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2022)

Article Oncology

KDM5B protein expressed in viable and fertile ΔARID mice exhibit no demethylase activity

Shirin Jamshidi et al.

Summary: Post-translational modification of histones plays a crucial role in gene transcription control, with KDM5B being an overexpressed demethylase in various cancers. The study showed that Delta ARID-KDM5B, lacking demethylase activity, can still survive and reproduce in mice, suggesting a crucial role of KDM5B in development independent of its demethylase activity.

INTERNATIONAL JOURNAL OF ONCOLOGY (2021)

Article Genetics & Heredity

Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders

H. Copeland et al.

Summary: Receiving a genetic diagnosis for developmental disorders has substantial positive medical and psychosocial outcomes for the majority of patients and their families, including disease-specific treatment, further investigations, and family support.

GENETICS IN MEDICINE (2021)

Review Developmental Biology

Gene Transfer Therapy for Neurodevelopmental Disorders

Can Ozlu et al.

Summary: Neurodevelopmental disorders (NDDs) encompass a range of disorders disrupting normal brain development, with many being caused by genetic variants impacting neuronal development. Current treatment options for NDDs focus on symptom management, but gene therapy using AAVs shows promise for future treatment. Further research into the unique advantages and challenges of AAV gene therapies is essential for addressing the lifelong burden NDDs place on individuals and families.

DEVELOPMENTAL NEUROSCIENCE (2021)

Review Ophthalmology

Antisense Oligonucleotide Therapy for Ophthalmic Conditions

Kevin Ferenchak et al.

Summary: Antisense oligonucleotides (AON) are synthetic single-stranded fragments of nucleic acids that bind to specific mRNA sequences and hold promise in treating various ophthalmic diseases, serving as a potential gene therapy solution for IRD that are not suitable for AAV delivery.

SEMINARS IN OPHTHALMOLOGY (2021)

Review Clinical Neurology

Emerging Gene and Small Molecule Therapies for the Neurodevelopmental Disorder Angelman Syndrome

Nycole A. Copping et al.

Summary: Angelman syndrome is a rare neurodevelopmental disorder characterized by severe developmental delay and intellectual disability. There is currently no cure, but advancements in small molecule drugs and gene therapies offer promise for treatment. Gene therapy could lead to precision medicine for Angelman syndrome and serve as a foundation for other single-gene neurodevelopmental disorders.

NEUROTHERAPEUTICS (2021)

Article Genetics & Heredity

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants

Sebastien Lebon et al.

Summary: The study found that KDM5B gene variants may be associated with developmental delay, autism spectrum disorders, and facial dysmorphism. It is noteworthy that these variants may also lead to agenesis of the corpus callosum, indicating that the KDM5B gene should be included in gene panels to clarify the etiology of ACC.
Review Genetics & Heredity

Origins of human disease: the chrono-epigenetic perspective

Edward Saehong Oh et al.

Summary: Epigenetics enriches human disease studies with new interpretations, but identifying causal mechanisms has been challenging. Recent findings in intra-individual and cyclical epigenetic variation present new opportunities, and the temporality in the epigenome may help integrate diverse disease studies.

NATURE REVIEWS GENETICS (2021)

Article Medicine, Research & Experimental

Genetic Counseling in Neurodevelopmental Disorders

Alyssa Blesson et al.

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2020)

Review Biochemistry & Molecular Biology

A short guide to histone deacetylases including recent progress on class II enzymes

Suk-Youl Park et al.

EXPERIMENTAL AND MOLECULAR MEDICINE (2020)

Review Genetics & Heredity

Fetal alcohol spectrum disorders: Genetic and epigenetic mechanisms

Nina Kaminen-Ahola

PRENATAL DIAGNOSIS (2020)

Article Genetics & Heredity

HISTome2: a database of histone proteins, modifiers for multiple organisms and epidrugs

Sanket G. Shah et al.

EPIGENETICS & CHROMATIN (2020)

Article Neurosciences

Neurodevelopmental disorders-the history and future of a diagnostic concept

Deborah J. Morris-Rosendahl et al.

DIALOGUES IN CLINICAL NEUROSCIENCE (2020)

Review Biotechnology & Applied Microbiology

Adeno-associated virus vector as a platform for gene therapy delivery

Dan Wang et al.

NATURE REVIEWS DRUG DISCOVERY (2019)

Article Developmental Biology

Retinoic acid signaling pathways

Norbert B. Ghyselinck et al.

DEVELOPMENT (2019)

Review Multidisciplinary Sciences

Advances in epigenetics link genetics to the environment and disease

Giacomo Cavalli et al.

NATURE (2019)

Article Neurosciences

Emerging roles for MEF2 in brain development and mental disorders

Ahlem Assali et al.

CURRENT OPINION IN NEUROBIOLOGY (2019)

Review Genetics & Heredity

Clinical epigenetics: seizing opportunities for translation

Maria Berdasco et al.

NATURE REVIEWS GENETICS (2019)

Article Multidisciplinary Sciences

Molecular architecture of the Jumonji C family histone demethylase KDM5B

Jerzy Dorosz et al.

SCIENTIFIC REPORTS (2019)

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

The Histone Demethylase KDM5 Is Essential for Larval Growth in Drosophila

Coralie Drelon et al.

GENETICS (2018)

Review Genetics & Heredity

Cost-effectiveness analyses of genetic and genomic diagnostic tests

Katherine Payne et al.

NATURE REVIEWS GENETICS (2018)

Article Pediatrics

The Diagnostic Odyssey of Autism Spectrum Disorder

Martine Lappe et al.

PEDIATRICS (2018)

Article Genetics & Heredity

The Histone Demethylase KDM5 Is Essential for Larval Growth in Drosophila

Coralie Drelon et al.

GENETICS (2018)

Article Multidisciplinary Sciences

Quantifying the contribution of recessive coding variation to developmental disorders

Hilary C. Martin et al.

SCIENCE (2018)

Article Multidisciplinary Sciences

Prevalence and architecture of de novo mutations in developmental disorders

Jeremy F. McRae et al.

NATURE (2017)

Article Biochemistry & Molecular Biology

Characterization of a Linked Jumonji Domain of the KDM5/JARID1 Family of Histone H3 Lysine 4 Demethylases

John R. Horton et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2016)

Article Biochemistry & Molecular Biology

Structural analysis of human KDM5B guides histone demethylase inhibitor development

Catrine Johansson et al.

NATURE CHEMICAL BIOLOGY (2016)

Review Cell Biology

Mechanisms of retinoic acid signalling and its roles in organ and limb development

Thomas J. Cunningham et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2015)

Review Genetics & Heredity

Disrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders

Christina N. Vallianatos et al.

EPIGENOMICS (2015)

Review Biochemistry & Molecular Biology

Retinoic acid signaling pathways in development and diseases

Bhaskar C. Das et al.

BIOORGANIC & MEDICINAL CHEMISTRY (2014)

Article Biochemistry & Molecular Biology

Coordinated Regulation of Retinoic Acid Signaling Pathway by KDM5B and Polycomb Repressive Complex 2

Yu Zhang et al.

JOURNAL OF CELLULAR BIOCHEMISTRY (2014)

Article Multidisciplinary Sciences

The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov et al.

NATURE (2014)

Article Biotechnology & Applied Microbiology

KDM5B focuses H3K4 methylation near promoters and enhancers during embryonic stem cell self-renewal and differentiation

Benjamin L. Kidder et al.

GENOME BIOLOGY (2014)

Article Biochemistry & Molecular Biology

Extended Self-Renewal and Accelerated Reprogramming in the Absence of Kdm5b

Benjamin L. Kidder et al.

MOLECULAR AND CELLULAR BIOLOGY (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 Psychiatry

Epigenetic Signatures of Autism Trimethylated H3K4 Landscapes in Prefrontal Neurons

Hennady P. Shulha et al.

ARCHIVES OF GENERAL PSYCHIATRY (2012)

Article Biochemistry & Molecular Biology

Histone Demethylase KDM5B Collaborates with TFAP2C and Myc To Repress the Cell Cycle Inhibitor p21cip (CDKN1A)

Ping-Pui Wong et al.

MOLECULAR AND CELLULAR BIOLOGY (2012)

Review Biochemistry & Molecular Biology

Histone Lysine Methylation Dynamics: Establishment, Regulation, and Biological Impact

Joshua C. Black et al.

MOLECULAR CELL (2012)

Review Cell Biology

Molecular mechanisms and potential functions of histone demethylases

Susanne Marije Kooistra et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2012)

Article Genetics & Heredity

Spectrum of MLL2 (ALR) Mutations in 110 Cases of Kabuki Syndrome

Mark C. Hannibal et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Review Biochemistry & Molecular Biology

Control of the Embryonic Stem Cell State

Richard A. Young

Editorial Material Clinical Neurology

The Deciphering Developmental Disorders (DDD) study

Helen V. Firth et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2011)

Article Biochemistry & Molecular Biology

Jarid1b targets genes regulating development and is involved in neural differentiation

Sandra U. Schmitz et al.

EMBO JOURNAL (2011)

Article Biochemistry & Molecular Biology

KDM5B regulates embryonic stem cell self-renewal and represses cryptic intragenic transcription

Liangqi Xie et al.

EMBO JOURNAL (2011)

Article Multidisciplinary Sciences

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi et al.

NATURE (2011)

Review Genetics & Heredity

Charting histone modifications and the functional organization of mammalian genomes

Vicky W. Zhou et al.

NATURE REVIEWS GENETICS (2011)

Review Genetics & Heredity

Role of H3K4 demethylases in complex neurodevelopmental diseases

Christopher Wynder et al.

EPIGENOMICS (2010)

Article Genetics & Heredity

FOXG1 is responsible for the congenital variant of Rett syndrome

Francesca Ariani et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Genetics & Heredity

A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD)

Abidemi Adegbola et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

Article Biochemistry & Molecular Biology

The histone demethylase KDM5b/JARID1b plays a role in cell fate decisions by blocking terminal differentiation

Bijan K. Dey et al.

MOLECULAR AND CELLULAR BIOLOGY (2008)

Article Biochemistry & Molecular Biology

Characterization of Drosophila melanogaster JmjC+N histone demethylases

Marta Lloret-Llinares et al.

NUCLEIC ACIDS RESEARCH (2008)

Article Biochemistry & Molecular Biology

Selective anchoring of TFIID to nucleosomes by trimethylation of histone H3 lysine 4

Michiel Vermeulen et al.

Article Biochemistry & Molecular Biology

PLU-1 is an H3K4 dernethylase involved in transcriptional repression and breast cancer cell proliferation

Kenichi Yamane et al.

MOLECULAR CELL (2007)

Review Genetics & Heredity

JmjC-domain-containing proteins and histone demethylation

Robert J. Klose et al.

NATURE REVIEWS GENETICS (2006)

Review Biotechnology & Applied Microbiology

The AP-2 family of transcription factors

Dawid Eckert et al.

GENOME BIOLOGY (2005)

Article Biochemistry & Molecular Biology

Histone demethylation mediated by the nuclear arnine oxidase homolog LSD1

YJ Shi et al.

Review Multidisciplinary Sciences

Molecular biology: Chromatin higher order folding: Wrapping up transcription

PJ Horn et al.

SCIENCE (2002)

Article Biochemistry & Molecular Biology

Retinoblastoma-binding protein 2 (Rbp2) potentiates nuclear hormone receptor-mediated transcription

SW Chan et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)