A review of craniofacial disorders caused by spliceosomal defects

Radioulnar Synostosis and Brain Abnormalities in a Patient with 17q21.31 Microdeletion Involving EFTUD2

(2015) Yuri A. Zarate et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Radioulnar Synostosis and Brain Abnormalities in a Patient with 17q21.31 Microdeletion Involving EFTUD2

(2015) Yuri A. Zarate et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

(2014) Dagmar Wieczorek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rodriguez syndrome withSF3B4mutation: A severe form of Nager syndrome?

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

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genesTSR2andRPS28

(2014) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

(2014) Elise Schaefer et al.   GENETICS IN MEDICINE

PRPF4 mutations cause autosomal dominant retinitis pigmentosa

(2014) Xue Chen et al.   HUMAN MOLECULAR GENETICS

Delineation ofEFTUD2Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

(2014) Daphné Lehalle et al.   HUMAN MUTATION

Mutations inSNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

(2014) Séverine Bacrot et al.   HUMAN MUTATION

A day in the life of the spliceosome

(2014) A. Gregory Matera et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

(2014) Danielle C. Lynch et al.   Nature Communications

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

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome

(2013) Banu Guzel Nur et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Facial dysostoses: Etiology, pathogenesis and management

(2013) Paul A. Trainor et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Array-CGH is an effective first-tier diagnostic test forEFTUD2-associated congenital mandibulofacial dysostosis with microcephaly

(2013) S.K. Gandomi et al.   CLINICAL GENETICS

Human facial dysostoses

(2013) D Wieczorek   CLINICAL GENETICS

Nager syndrome: confirmation ofSF3B4haploinsufficiency as the major cause

(2013) F. Petit et al.   CLINICAL GENETICS

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome

(2013) Cornelis A Albers et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation

(2013) Yongbo Wang et al.   EMBO Molecular Medicine

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

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

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

(2013) Claudia Voigt et al.   Orphanet Journal of Rare Diseases

Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

(2013) A. Bolze et al.   SCIENCE

Mysterious Ribosomopathies

(2013) K. L. McCann et al.   SCIENCE

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

Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

(2012) Sandra M. Pasternack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

“Mandibulofacial dysostosis with microcephaly” caused byEFTUD2mutations: Expanding the phenotype

(2012) Daniela V. Luquetti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA

(2012) Hitomi Tsuiji et al.   EMBO Molecular Medicine

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification

(2012) S. Mroczek et al.   GENES & DEVELOPMENT

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

(2012) J. Rainger et al.   HUMAN MOLECULAR GENETICS

EFTUD2haploinsufficiency leads to syndromic oesophageal atresia

(2012) Christopher T Gordon et al.   JOURNAL OF MEDICAL GENETICS

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Dynamic Protein-Protein Interaction Wiring of the Human Spliceosome

(2012) Anna Hegele et al.   MOLECULAR CELL

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

Specialized ribosomes: a new frontier in gene regulation and organismal biology

(2012) Shifeng Xue et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Human CWC22 escorts the helicase eIF4AIII to spliceosomes and promotes exon junction complex assembly

(2012) Isabelle Barbosa et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Human spliceosomal protein CWC22 plays a role in coupling splicing to exon junction complex deposition and nonsense-mediated decay

(2012) A. Alexandrov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The DEAD-box helicase eIF4A

(2012) Alexandra Z. Andreou et al.   RNA Biology

Mpn1, Mutated in Poikiloderma with Neutropenia Protein 1, Is a Conserved 3′-to-5′ RNA Exonuclease Processing U6 Small Nuclear RNA

(2012) Vadim Shchepachev et al.   Cell Reports

CWC22 Connects Pre-mRNA Splicing and Exon Junction Complex Assembly

(2012) Anna-Lena Steckelberg et al.   Cell Reports

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa

(2011) Goranka Tanackovic et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Richieri-Costa and Pereira syndrome: Report of two Brazilian siblings and review of literature

(2011) Josiane Souza et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Regulation of alternative splicing by the core spliceosomal machinery

(2011) A. L. Saltzman et al.   GENES & DEVELOPMENT

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa

(2011) Goranka Tanackovic et al.   HUMAN MOLECULAR GENETICS

Spliceosome mutations in hematopoietic malignancies

(2011) Christopher N Hahn et al.   NATURE GENETICS

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He et al.   SCIENCE

Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

(2010) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Richieri-Costa-Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian cases

(2010) Francine Pinheiro Favaro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cerebro-costo-mandibular syndrome: Prognosis and proposal for classification

(2010) Hiroyuki Nagasawa et al.   CONGENITAL ANOMALIES

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

(2010) Johannes G Dauwerse et al.   NATURE GENETICS

Spliceosome Structure and Function

(2010) C. L. Will et al.   Cold Spring Harbor Perspectives in Biology

Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs

(2009) Chen Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

(2009) Ludovica Volpi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X-linked syndrome?

(2009) Maria Leine Guion-Almeida et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome

(2009) Dagmar Wieczorek et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis of Synthetic Lethality Reveals Genetic Interactions Between the GTPase Snu114p and snRNAs in the Catalytic Core of the Saccharomyces cerevisiae Spliceosome

(2009) L. N. Frazer et al.   GENETICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

The role of Snu114p during pre-mRNA splicing: Figure 1

(2008) Lily Novak Frazer et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1

(2008) R. Zeevaert et al.   HUMAN MOLECULAR GENETICS

Regulation of Multiple Core Spliceosomal Proteins by Alternative Splicing-Coupled Nonsense-Mediated mRNA Decay

(2008) A. L. Saltzman et al.   MOLECULAR AND CELLULAR BIOLOGY

Localization of Prp8, Brr2, Snu114 and U4/U6 proteins in the yeast tri-snRNP by electron microscopy

(2008) Irina Häcker et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY