4.6 Article

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

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

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

Leonie von Elsner et al.

Summary: The peripheral protein FRA10AC1 of the spliceosomal C complex plays a crucial role in neurodevelopment, with mutations potentially leading to intellectual disabilities and other symptoms.
Letter Biotechnology & Applied Microbiology

The GA4GH Phenopacket schema defines a computable representation of clinical data

Julius O. B. Jacobsen et al.

NATURE BIOTECHNOLOGY (2022)

Article Cell Biology

Dynamics and functional roles of splicing factor autoregulation

Fangyuan Ding et al.

Summary: A study has found that negative autoregulatory splicing of the splicing factor SRSF1 plays a critical role in gene regulation. It establishes an upper limit for SRSF1 protein concentration, reduces cell-to-cell variability in SRSF1 levels, and buffers transcriptional variation. Furthermore, this negative autoregulatory splicing adapts SRSF1 splicing activity to variations in demand from other pre-mRNA substrates.

CELL REPORTS (2022)

Article Genetics & Heredity

Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease

Maxime Cadieux-Dion et al.

Summary: Nager syndrome is a subtype of acrofacial dysostoses characterized by craniofacial and limb defects. Haploinsufficiency of the SF3B4 gene is responsible for Nager syndrome, but can also present with different phenotypes. This case demonstrates a broader phenotypic spectrum associated with SF3B4 variants.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

Article Biochemistry & Molecular Biology

Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53

Marie-Claude Beauchamp et al.

Summary: EFTUD2 mutation in neural crest cells leads to brain and craniofacial abnormalities. Aberrant alternative splicing of Mdm2 gene, resulting in overactivation of the P53 pathway, is associated with the pathogenesis of MFDM.

HUMAN MOLECULAR GENETICS (2021)

Article Biochemistry & Molecular Biology

Trips-Viz: an environment for the analysis of public and user-generated ribosome profiling data

Stephen J. Kiniry et al.

Summary: Trips-Viz is an interactive platform that provides access to analyzed ribosome profiling and RNA sequencing data, and has improved server functionality to visualize proteomics data.

NUCLEIC ACIDS RESEARCH (2021)

Article Genetics & Heredity

Whole-exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities

Meirong Yang et al.

Summary: The study reveals a high correlation between microtia and thoracic deformities, suggesting that certain genes may regulate the development of both the external ear and thorax. Whole-exome sequencing proves to be beneficial in identifying candidate genes for microtia, providing a new approach for genetic exploration in this condition.

MOLECULAR GENETICS & GENOMIC MEDICINE (2021)

Article Biology

Overlapping roles of spliceosomal components SF3B1 and PHF5A in rice splicing regulation

Haroon Butt et al.

Summary: Researchers used CRISPR technology to create rice mutants with different levels of salt stress sensitivity for spliceosome components SF3B1 and PHF5A, demonstrating that these mutants can be used to study functions of redundant paralogs in plants.

COMMUNICATIONS BIOLOGY (2021)

Article Multidisciplinary Sciences

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Andrew T. Timberlake et al.

Summary: Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, with loss of function variants in SF3B2 identified as a significant genetic cause in the study. The findings suggest a link between SF3B2 mutations, impaired neural crest development, and the development of CFM.

NATURE COMMUNICATIONS (2021)

Review Anatomy & Morphology

Spliceosomopathies and neurocristopathies: Two sides of the same coin?

Marie-Claude Beauchamp et al.

DEVELOPMENTAL DYNAMICS (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Review Anatomy & Morphology

Spliceosomopathies: Diseases and mechanisms

Casey Griffin et al.

DEVELOPMENTAL DYNAMICS (2020)

Review Genetics & Heredity

The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature

Theodore G. Drivas et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)

Article Genetics & Heredity

Annotation-free quantification of RNA splicing using LeafCutter

Yang I. Li et al.

NATURE GENETICS (2018)

Article Genetics & Heredity

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Zeynep Coban-Akdemir et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Biochemical Research Methods

fastp: an ultra-fast all-in-one FASTQ preprocessor

Shifu Chen et al.

BIOINFORMATICS (2018)

Article Genetics & Heredity

OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data

Felix Brechtmann et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Biotechnology & Applied Microbiology

SUPPA2: fast, accurate, and uncertainty-aware differential splicing analysis across multiple conditions

Juan L. Trincado et al.

GENOME BIOLOGY (2018)

Review Biochemistry & Molecular Biology

Regulation of MCM2-7 function

Yukio Ishimi

GENES & GENETIC SYSTEMS (2018)

Article Genetics & Heredity

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

Laura S. Farach et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)

Article Biochemistry & Molecular Biology

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Salima El Chehadeh et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2017)

Article Biochemistry & Molecular Biology

A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome

Matteo Cassina et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2017)

Article Biochemistry & Molecular Biology

Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors

Lei Lei et al.

NUCLEIC ACIDS RESEARCH (2017)

Article Multidisciplinary Sciences

Prevalence and architecture of de novo mutations in developmental disorders

Jeremy F. McRae et al.

NATURE (2017)

Article Biochemical Research Methods

Salmon provides fast and bias-aware quantification of transcript expression

Rob Patro et al.

NATURE METHODS (2017)

Review Cell Biology

Mechanistic insights into precursor messenger RNA splicing by the spliceosome

Yigong Shi

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2017)

Review Genetics & Heredity

Splicing Factor Mutations in Myelodysplasias: Insights from Spliceosome Structures

Jermaine L. Jenkins et al.

TRENDS IN GENETICS (2017)

Article Multidisciplinary Sciences

Splicing modulators act at the branch point adenosine binding pocket defined by the PHF5A-SF3b complex

Teng Teng et al.

NATURE COMMUNICATIONS (2017)

Article Genetics & Heredity

Rodriguez Acrofacial Dysostosis Is Caused by Apparently De Novo Heterozygous Mutations in the SF3B4 Gene

Melita D. Irving et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)

Article Genetics & Heredity

Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray

Ida Charlotte Bay Lund et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2016)

Article Biochemistry & Molecular Biology

Molecular Architecture of SF3b and Structural Consequences of Its Cancer-Related Mutations

Constantin Cretu et al.

MOLECULAR CELL (2016)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Article Multidisciplinary Sciences

Large-scale discovery of novel genetic causes of developmental disorders

T. W. Fitzgerald et al.

NATURE (2015)

Article Genetics & Heredity

A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

Francine P. Favaro et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2014)

Article Genetics & Heredity

Rodriguez syndrome with SF3B4 mutation: A severe form of Nager syndrome?

Elizabeth McPherson et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)

Article Genetics & Heredity

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

F. Petit et al.

CLINICAL GENETICS (2014)

Article Multidisciplinary Sciences

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

Danielle C. Lynch et al.

NATURE COMMUNICATIONS (2014)

Article Biotechnology & Applied Microbiology

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

Michael I. Love et al.

GENOME BIOLOGY (2014)

Article Genetics & Heredity

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

Andrew Dauber et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)

Article Biochemical Research Methods

STAR: ultrafast universal RNA-seq aligner

Alexander Dobin et al.

BIOINFORMATICS (2013)

Article Genetics & Heredity

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

J. C. Czeschik et al.

HUMAN GENETICS (2013)

Article Genetics & Heredity

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Matthew A. Lines et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

Francois P. Bernier et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Cell Biology

Regulation of alternative splicing by the core spliceosomal machinery

Arneet L. Saltzman et al.

GENES & DEVELOPMENT (2011)

Article Cell Biology

Spliceosome Structure and Function

Cindy L. Will et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2011)

Article Biochemistry & Molecular Biology

A Splicing-Independent Function of SF2/ASF in MicroRNA Processing

Han Wu et al.

MOLECULAR CELL (2010)

Article Biochemistry & Molecular Biology

SF2/ASF autoregulation involves multiple layers of post-transcriptional and translational control

Shuying Sun et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2010)

Review Biochemistry & Molecular Biology

The Spliceosome: Design Principles of a Dynamic RNP Machine

Markus C. Wahl et al.

Article Genetics & Heredity

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

Peter N. Robinson et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Biochemistry & Molecular Biology

Regulation of multiple core spliceosomal proteins by alternative splicing-coupled nonsense-mediated mRNA decay

Arneet L. Saltzman et al.

MOLECULAR AND CELLULAR BIOLOGY (2008)

Article Biochemical Research Methods

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

G Yeo et al.

JOURNAL OF COMPUTATIONAL BIOLOGY (2004)

Article Chemistry, Multidisciplinary

UCSF chimera - A visualization system for exploratory research and analysis

EF Pettersen et al.

JOURNAL OF COMPUTATIONAL CHEMISTRY (2004)

Article Multidisciplinary Sciences

Molecular architecture of the multiprotein splicing factor SF3b

MM Golas et al.

SCIENCE (2003)

Review Biochemistry & Molecular Biology

Rotamer libraries in the 21st century

RL Dunbrack

CURRENT OPINION IN STRUCTURAL BIOLOGY (2002)

Article Biochemistry & Molecular Biology

Identification and characterization of a novel murine multigene family containing a PHD-finger-like motif

R Trappe et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2002)

Article Biochemistry & Molecular Biology

SC35 autoregulates its expression by promoting splicing events that destabilize its mRNAs

A Sureau et al.

EMBO JOURNAL (2001)

Article Biochemistry & Molecular Biology

GeneSplicer: a new computational method for splice site prediction

M Pertea et al.

NUCLEIC ACIDS RESEARCH (2001)