(Q38417433)

2 September 2017

1 reference

title

A review of craniofacial disorders caused by spliceosomal defects (English)

1 reference

2 September 2017

0 references

5

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25865758%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Christopher T Gordon

7

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9 June 2020

Jeanne Amiel

6

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25865758%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Maria Rita Passos-Bueno

4

object named as

M R Passos-Bueno

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9 June 2020

D Lehalle

1

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9 June 2020

D Wieczorek

2

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9 June 2020

R M Zechi-Ceide

3

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9 June 2020

publication date

11 April 2015

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2 September 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25865758%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

88

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9 June 2020

issue

5

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9 June 2020

page(s)

405-415

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25865758%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

cites work

Human facial dysostoses

1 reference

Facial dysostoses: Etiology, pathogenesis and management

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

21 January 2018

1 reference

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

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

21 January 2018

1 reference

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.

21 January 2018

1 reference

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects

21 January 2018

1 reference

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome

21 January 2018

1 reference

Spliceosome Structure and Function

21 January 2018

1 reference

A day in the life of the spliceosome

21 January 2018

1 reference

PRPF4 mutations cause autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

21 January 2018

1 reference

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

21 January 2018

1 reference

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs

21 January 2018

1 reference

A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa

21 January 2018

1 reference

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

21 January 2018

1 reference

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

21 January 2018

1 reference

Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA.

21 January 2018

1 reference

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

21 January 2018

1 reference

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

21 January 2018

1 reference

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

21 January 2018

1 reference

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

21 January 2018

1 reference

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

21 January 2018

1 reference

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

21 January 2018

1 reference

SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

21 January 2018

1 reference

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

21 January 2018

1 reference

Identification of alternative splicing regulators by RNA interference in Drosophila

21 January 2018

1 reference

Transcript specificity in yeast pre-mRNA splicing revealed by mutations in core spliceosomal components

21 January 2018

1 reference

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

21 January 2018

1 reference

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

21 January 2018

1 reference

Clinical application of exome sequencing in undiagnosed genetic conditions

21 January 2018

1 reference

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

21 January 2018

1 reference

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

21 January 2018

1 reference

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

21 January 2018

1 reference

Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly

21 January 2018

1 reference

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

21 January 2018

1 reference

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

21 January 2018

1 reference

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?

21 January 2018

1 reference

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

21 January 2018

1 reference

The role of Snu114p during pre-mRNA splicing

21 January 2018

1 reference

An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2.

21 January 2018

1 reference

The ribosomal translocase homologue Snu114p is involved in unwinding U4/U6 RNA during activation of the spliceosome

21 January 2018

1 reference

Mutagenesis Suggests Several Roles of Snu114p in Pre-mRNA Splicing

21 January 2018

1 reference

Genetic analysis reveals a role for the C terminus of the Saccharomyces cerevisiae GTPase Snu114 during spliceosome activation

21 January 2018

1 reference

Analysis of synthetic lethality reveals genetic interactions between the GTPase Snu114p and snRNAs in the catalytic core of the Saccharomyces cerevisiae spliceosome

21 January 2018

1 reference

The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein

21 January 2018

1 reference

The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP

21 January 2018

1 reference

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

21 January 2018

1 reference

The EF-G-like GTPase Snu114p regulates spliceosome dynamics mediated by Brr2p, a DExD/H box ATPase

21 January 2018

1 reference

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

21 January 2018

1 reference

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

21 January 2018

1 reference

A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.

21 January 2018

1 reference

New acrofacial dysostosis syndrome in 3 sibs

21 January 2018

1 reference

The prespliceosome components SAP 49 and SAP 145 interact in a complex implicated in tethering U2 snRNP to the branch site

21 January 2018

1 reference

Dynamic protein-protein interaction wiring of the human spliceosome

21 January 2018

1 reference

Interaction of the BMPR-IA tumor suppressor with a developmentally relevant splicing factor

21 January 2018

1 reference

Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation

21 January 2018

1 reference

Familial cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Regulation of alternative splicing by the core spliceosomal machinery

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex

21 January 2018

1 reference

The DEAD-box helicase eIF4A: paradigm or the odd one out?

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

CWC22 connects pre-mRNA splicing and exon junction complex assembly.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.

21 January 2018

1 reference

Identification, characterization and crystal structure analysis of the human spliceosomal U5 snRNP-specific 15 kD protein

21 January 2018

1 reference

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

21 January 2018

1 reference

Mutations in SBDS are associated with Shwachman-Diamond syndrome

21 January 2018

1 reference

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

21 January 2018

1 reference

Genetics. Mysterious ribosomopathies

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12596

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25865758%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference