Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly (Q24633650)

10

0 references

Dagmar Wieczorek

27

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Jeremy Schwartzentruber

3

Jeremy Schwartzentruber

0 references

Almuth Caliebe

15

Almuth Caliebe

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Roseli Maria Zechi-Ceide

8

Roseli Maria Zechi-Ceide

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Kym M Boycott

28

Maria Leine Guion-Almeida

Kym M Boycott

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7

Maria Leine Guion-Almeida

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Dorit Lev

18

Dorit Lev

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Jacek Majewski

25

Jacek Majewski

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Usha Kini

14

Usha Kini

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Denise Horn

13

Denise Horn

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Chandree L Beaulieu

6

Chandree Beaulieu

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Dennis E Bulman

26

Dennis E Bulman

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author name string

Matthew A Lines

1

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Lijia Huang

2

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Stuart L Douglas

4

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Danielle C Lynch

5

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Blanca Gener

9

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Caroline Nava

11

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Geneviève Baujat

12

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Yasemin Alanay

16

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Gulen Eda Utine

17

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Jürgen Kohlhase

19

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Arthur W Grix

20

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Dietmar R Lohmann

21

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Ute Hehr

22

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Detlef Böhm

American Journal of Human Genetics

23

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language of work or name

English

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publication date

10 February 2012

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published in

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volume

90

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issue

2

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page(s)

369-77

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cites work

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Exome sequencing identifies the cause of a mendelian disorder

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Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

7 April 2017

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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

7 April 2017

1 reference

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

7 April 2017

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Two crystal structures demonstrate large conformational changes in the eukaryotic ribosomal translocase

7 April 2017

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

7 April 2017

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

7 April 2017

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

7 April 2017

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Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

7 April 2017

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

7 April 2017

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

7 April 2017

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

27 September 2017

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

27 September 2017

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Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

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Human U4/U6.U5 and U4atac/U6atac.U5 tri-snRNPs exhibit similar protein compositions

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276671

Mutagenesis Suggests Several Roles of Snu114p in Pre-mRNA Splicing

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276671

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?

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22305528

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.12.023

1 reference

1 reference

1 reference

PubMed publication ID

22305528

1 reference