A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
about
ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteinsOverexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stressSpatiotemporal expression pattern of ceramide kinase-like in the mouse retinaExpression and localization of CERKL in the mammalian retina, its response to light-stress, and relationship with NeuroD1 geneMutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).Ceramide kinase-like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner.A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.Genetic isolates in ophthalmic diseases.Human genetic disorders of sphingolipid biosynthesis.
P2860
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P2860
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
description
1998 nî lūn-bûn
@nan
1998 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
@ast
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
@en
type
label
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
@ast
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
@en
prefLabel
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
@ast
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
@en
P2093
P2860
P356
P1476
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
@en
P2093
Balcells S
Bussaglia E
Chivelet P
Goldaracena B
Gonzàlez-Duarte R
Grinberg D
Iragui-Madoz MI
Martínez-Mir A
P2860
P304
P356
10.1136/JMG.35.2.141
P407
P577
1998-02-01T00:00:00Z