Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

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

(2016) Ida Charlotte Bay Lund et al.   European Journal of Medical Genetics

Phenotypic subregions within the split-hand/foot malformation 1 locus

(2016) Malene B. Rasmussen et al.   HUMAN GENETICS

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

(2015) K. Nicole Weaver et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A review of craniofacial disorders caused by spliceosomal defects

(2015) D. Lehalle et al.   CLINICAL GENETICS

A pathway to bone: signaling molecules and transcription factors involved in chondrocyte development and maturation

(2015) E. Kozhemyakina et al.   DEVELOPMENT

The transcription factors SOX9 and SOX5/SOX6 cooperate genome-wide through super-enhancers to drive chondrogenesis

(2015) Chia-Feng Liu et al.   NUCLEIC ACIDS RESEARCH

HOCOMOCO: expansion and enhancement of the collection of transcription factor binding sites models

(2015) Ivan V. Kulakovskiy et al.   NUCLEIC ACIDS RESEARCH

Rodriguez syndrome withSF3B4mutation: A severe form of Nager syndrome?

(2014) Elizabeth McPherson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

HeterozygousDLX5nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families

(2014) Anna Sowińska-Seidler et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation

(2014) Xue Wang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

rMATS: Robust and flexible detection of differential alternative splicing from replicate RNA-Seq data

(2014) Shihao Shen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) Francine P. Favaro et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human facial dysostoses

(2013) D Wieczorek   CLINICAL GENETICS

Nager syndrome: confirmation ofSF3B4haploinsufficiency as the major cause

(2013) F. Petit et al.   CLINICAL GENETICS

Novel alterations in the epigenetic signature of MeCP2-targeted promoters in lymphocytes of Rett syndrome patients

(2013) Tobias Lilja et al.   Epigenetics

Distinct function of P63 isoforms during embryonic skeletal development

(2013) Yaojuan Lu et al.   GENE

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

(2013) J. C. Czeschik et al.   HUMAN GENETICS

Split-hand/foot malformation - molecular cause and implications in genetic counseling

(2013) Anna Sowińska-Seidler et al.   JOURNAL OF APPLIED GENETICS

Development of the Endochondral Skeleton

(2013) F. Long et al.   Cold Spring Harbor Perspectives in Biology

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

(2012) Matthew A. Lines et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Francois P. Bernier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Coding exons function as tissue-specific enhancers of nearby genes

(2012) Ramon Y. Birnbaum et al.   GENOME RESEARCH

Functional characterization of tissue-specific enhancers in the DLX5/6 locus

(2012) Ramon Y. Birnbaum et al.   HUMAN MOLECULAR GENETICS

Dynamic Protein-Protein Interaction Wiring of the Human Spliceosome

(2012) Anna Hegele et al.   MOLECULAR CELL

Translation drives mRNA quality control

(2012) Christopher J Shoemaker et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Inferring direct DNA binding from ChIP-seq

(2012) Timothy L. Bailey et al.   NUCLEIC ACIDS RESEARCH

Identification of a novelDLX5mutation in a family with autosomal recessive split hand and foot malformation

(2011) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

A truncated, activin-induced Smad3 isoform acts as a transcriptional repressor of FSHβ expression in mouse pituitary

(2011) So-Youn Kim et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

TopHat: discovering splice junctions with RNA-Seq

(2009) Cole Trapnell et al.   BIOINFORMATICS

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism

(2009) Anneke T van Silfhout et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and αVβ3 integrin

(2009) Matthew J. Rock et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Rodriguez lethal acrofacial dysostosis syndrome with pulmonary hypoplasia

(2009) Masakazu Miyawaki et al.   PEDIATRICS INTERNATIONAL

Dlx5 Is a Cell Autonomous Regulator of Chondrocyte Hypertrophy in Mice and Functionally Substitutes for Dlx6 during Endochondral Ossification

(2009) Hui Zhu et al.   PLoS One

Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy

(2009) Hélène Ansart-Franquet et al.   PRENATAL DIAGNOSIS

Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects

(2008) N. Lo Iacono et al.   DEVELOPMENT

Smad3 activates the Sox9-dependent transcription on chromatin

(2008) Takayuki Furumatsu et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

L-Sox5 and Sox6 Drive Expression of the Aggrecan Gene in Cartilage by Securing Binding of Sox9 to a Far-Upstream Enhancer

(2008) Y. Han et al.   MOLECULAR AND CELLULAR BIOLOGY