RPGRIP1 and cone-rod dystrophy in dogs

about

Leber congenital amaurosis caused by mutations in RPGRIP1.Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.

P2860

Q35245250-89C7F4FB-75AC-4C70-9910-43E481C098C9 Q36173074-84D30D89-7721-407F-8B57-73358ACB1562

P2860

RPGRIP1 and cone-rod dystrophy in dogs

Item

http://www.wikidata.org/entity/Q27023933

description

2012 nî lūn-bûn

@nan

2012 թուականին հրատարակուած գիտական յօդուած

@hyw

2012 թվականին հրատարակված գիտական հոդված

@hy

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

name

RPGRIP1 and cone-rod dystrophy in dogs

@ast

RPGRIP1 and cone-rod dystrophy in dogs

@en

RPGRIP1 and cone-rod dystrophy in dogs

@nl

type

Item

label

RPGRIP1 and cone-rod dystrophy in dogs

@ast

RPGRIP1 and cone-rod dystrophy in dogs

@en

RPGRIP1 and cone-rod dystrophy in dogs

@nl

prefLabel

RPGRIP1 and cone-rod dystrophy in dogs

@ast

RPGRIP1 and cone-rod dystrophy in dogs

@en

RPGRIP1 and cone-rod dystrophy in dogs

@nl

P1476

RPGRIP1 and cone-rod dystrophy in dogs

@en

P2093

Barbara Zangerl

http://www.w3.org/2001/XMLSchema#string

Tatyana Kuznetsova

http://www.w3.org/2001/XMLSchema#string

P2860

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

CP110 cooperates with two calcium-binding proteins to regulate cytokinesis and genome stability

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

Jouberin localizes to collecting ducts and interacts with nephrocystin-1

Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

P304

321-328

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1007/978-1-4614-0631-0_42

http://www.w3.org/2001/XMLSchema#string

P407

English

P478

723

http://www.w3.org/2001/XMLSchema#string

P50

Gustavo D Aguirre

P577

2012-01-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

22183349

http://www.w3.org/2001/XMLSchema#string

P932

3934191

http://www.w3.org/2001/XMLSchema#string

RPGRIP1 and cone-rod dystrophy in dogs

about

P2860

P2860

RPGRIP1 and cone-rod dystrophy in dogs

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P478

P50

P577

P698

P932