(Q56241301)

English

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

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scholarly article

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Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling (English)

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Josseline Kaplan

object named as

Josseline Kaplan

14

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Jean-michel Rozet

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Jean-Michel Rozet

15

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Jean-Paul Bonnefont

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Jean-Paul Bonnefont

13

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9

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Annick Toutain

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12

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Arnold Munnich

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Hélène Dollfus

7

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Hélène Dollfus

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Jean-Louis Dufier

10

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Jean-Louis Dufier

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11

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Olivier Roche

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author name string

Valérie Pelletier

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Marguerite Jambou

2

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Nathalie Delphin

3

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Elena Zinovieva

4

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Morgane Stum

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Nadine Gigarel

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Christian Hamel

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publication date

2006

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28

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1

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81-91

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X-linked recessive atrophic macular degeneration from RPGR mutation

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https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

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Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

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X-linked retinitis pigmentosa

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https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

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A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

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Null RPGRIP1 alleles in patients with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

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Retinitis pigmentosa. Genetic percentages

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

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Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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Clinical and genetic heterogeneity in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

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RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

Positional cloning of the gene for X-linked retinitis pigmentosa 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel frameshift mutations in the RP2 gene and polymorphic variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the RPGR gene cause X-linked cone dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

inferred from DOI database lookup

Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20417

7 January 2021

based on heuristic

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10.1002/HUMU.20417

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