(Q24633650)

10

0 references

Dagmar Wieczorek

27

0 references

Jeremy Schwartzentruber

3

Jeremy Schwartzentruber

0 references

Almuth Caliebe

15

Almuth Caliebe

0 references

Roseli Maria Zechi-Ceide

8

Roseli Maria Zechi-Ceide

0 references

Kym M Boycott

28

Maria Leine Guion-Almeida

Kym M Boycott

0 references

7

Maria Leine Guion-Almeida

0 references

Dorit Lev

18

Dorit Lev

0 references

Jacek Majewski

25

Jacek Majewski

0 references

Usha Kini

14

Usha Kini

0 references

Denise Horn

13

Denise Horn

0 references

Chandree L Beaulieu

6

Chandree Beaulieu

0 references

Dennis E Bulman

26

Dennis E Bulman

0 references

author name string

Matthew A Lines

1

0 references

Lijia Huang

2

0 references

Stuart L Douglas

4

0 references

Danielle C Lynch

5

0 references

Blanca Gener

9

0 references

Caroline Nava

11

0 references

Geneviève Baujat

12

0 references

Yasemin Alanay

16

0 references

Gulen Eda Utine

17

0 references

Jürgen Kohlhase

19

0 references

Arthur W Grix

20

0 references

Dietmar R Lohmann

21

0 references

Ute Hehr

22

0 references

Detlef Böhm

American Journal of Human Genetics

23

0 references

language of work or name

English

0 references

publication date

10 February 2012

0 references

published in

0 references

volume

90

0 references

issue

2

0 references

page(s)

369-77

0 references

cites work

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1 reference

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Exome sequencing identifies the cause of a mendelian disorder

7 April 2017

1 reference

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Fast and accurate short read alignment with Burrows-Wheeler transform

7 April 2017

1 reference

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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

1 reference

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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

1 reference

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

7 April 2017

1 reference

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The Sequence Alignment/Map format and SAMtools

7 April 2017

1 reference

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

7 April 2017

1 reference

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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

1 reference

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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

1 reference

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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

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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

27 September 2017

1 reference

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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

1 reference

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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

1 reference

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

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

27 September 2017

1 reference

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

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

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

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