SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
about
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesPathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.MicroRNA-184 promotes differentiation of the retinal pigment epithelium by targeting the AKT2/mTOR signaling pathway.Prorenin receptor controls renal branching morphogenesis via Wnt/β-catenin signaling.Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.LncRNA ZNF503-AS1 promotes RPE differentiation by downregulating ZNF503 expression.GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.c-Jun-mediated microRNA-302d-3p induces RPE dedifferentiation by targeting p21Waf1/Cip1.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
P2860
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P2860
SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
description
2015 nî lūn-bûn
@nan
2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
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2015年论文
@zh-cn
name
SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
@ast
SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
@en
type
label
SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
@ast
SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
@en
prefLabel
SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
@ast
SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
@en
P2093
P2860
P356
P1433
P1476
SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
@en
P2093
Chi Pui Pang
Douglas Vollrath
Kanxing Zhao
Li Jia Chen
Pancy O S Tam
Qingshun Zhao
Wenshuang Jia
P2860
P2888
P356
10.1038/SREP14867
P407
P50
P577
2015-10-13T00:00:00Z