(Q43422368)

23 November 2017

title

PRPF4 mutations cause autosomal dominant retinitis pigmentosa (English)

1 reference

PRP4 pre-mRNA processing factor 4 homolog (yeast)

23 November 2017

main subject

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GOA release 2020-03-11

author name string

Xue Chen

1

1 reference

23 November 2017

Yuan Liu

2

1 reference

23 November 2017

Xunlun Sheng

3

1 reference

23 November 2017

Pancy O S Tam

4

1 reference

23 November 2017

Kanxing Zhao

5

1 reference

23 November 2017

Xuejuan Chen

6

1 reference

23 November 2017

Weining Rong

7

1 reference

23 November 2017

Yani Liu

8

1 reference

23 November 2017

Xiaoxing Liu

9

1 reference

23 November 2017

Xinyuan Pan

10

1 reference

23 November 2017

Li Jia Chen

11

1 reference

23 November 2017

Qingshun Zhao

12

1 reference

23 November 2017

Douglas Vollrath

13

1 reference

23 November 2017

Chi Pui Pang

14

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23 November 2017

Chen Zhao

15

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23 November 2017

publication date

12 January 2014

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23 November 2017

published in

Human Molecular Genetics

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23 November 2017

volume

23

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23 November 2017

issue

11

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23 November 2017

page(s)

2926-2939

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High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.

23 November 2017

cites work

1 reference

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Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking

21 January 2018

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Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa

21 January 2018

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21 January 2018

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

21 January 2018

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)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU005

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family

21 January 2018

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

21 January 2018

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

21 January 2018

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The spliceosome: design principles of a dynamic RNP machine

21 January 2018

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Spliceosome assembly in yeast

21 January 2018

1 reference

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Spliceosome assembly involves the binding and release of U4 small nuclear ribonucleoprotein

21 January 2018

1 reference

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Electrophoresis of ribonucleoproteins reveals an ordered assembly pathway of yeast splicing complexes

21 January 2018

1 reference

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Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

21 January 2018

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Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome

21 January 2018

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Central region of the human splicing factor Hprp3p interacts with Hprp4p

21 January 2018

1 reference

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Cloning of human PRP4 reveals interaction with Clk1

21 January 2018

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Network of coregulated spliceosome components revealed by zebrafish mutant in recycling factor p110.

21 January 2018

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Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa.

21 January 2018

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The essential pre-mRNA splicing factor SF2 influences 5' splice site selection by activating proximal sites.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.

21 January 2018

1 reference

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Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations

21 January 2018

1 reference

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A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family

21 January 2018

1 reference

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CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

21 January 2018

1 reference

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Decreased levels of the RNA splicing factor Prpf3 in mice and zebrafish do not cause photoreceptor degeneration

21 January 2018

1 reference

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Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa.

21 January 2018

1 reference

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Functional and structural characterization of the prp3 binding domain of the yeast prp4 splicing factor

21 January 2018

1 reference

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Functional properties of p54, a novel SR protein active in constitutive and alternative splicing

21 January 2018

1 reference

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The differential interaction of snRNPs with pre-mRNA reveals splicing kinetics in living cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU005

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU005

RNA unwinding in U4/U6 snRNPs requires ATP hydrolysis and the DEIH-box splicing factor Brr2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU005

Structural Basis of Brr2-Prp8 Interactions and Implications for U5 snRNP Biogenesis and the Spliceosome Active Site

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU005

Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU005

A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU005

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU005

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU005

PROMO: detection of known transcription regulatory elements using species-tailored searches

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU005

Identification of patterns in biological sequences at the ALGGEN server: PROMO and MALGEN.

21 January 2018

1 reference

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The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

21 January 2018

1 reference

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The SWISS-MODEL Repository and associated resources

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU005

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 January 2018

1 reference

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Genetic variants of the human H+/dipeptide transporter PEPT2: analysis of haplotype functions

21 January 2018

1 reference

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Site-directed mutagenesis by overlap extension using the polymerase chain reaction

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDU005

1 reference

23 November 2017

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