Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.
about
The protein O-glucosyltransferase Rumi modifies eyes shut to promote rhabdomere separation in DrosophilaMolecular diagnosis of putative Stargardt disease by capture next generation sequencingProminin-1 Is a Novel Regulator of Autophagy in the Human Retinal Pigment EpitheliumIdentification and validation of PROM1 and CRTC2 mutations in lung cancer patientsMissense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.Distinct and conserved prominin-1/CD133-positive retinal cell populations identified across speciesExtended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.Prominin-1 localizes to the open rims of outer segment lamellae in Xenopus laevis rod and cone photoreceptors.An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Commentary: "prom1 function in development, intestinal inflammation, and intestinal tumorigenesis".Identifying mutations in Tunisian families with retinal dystrophyIdentification of three prominin homologs and characterization of their messenger RNA expression in Xenopus laevis tissues.Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy.Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
P2860
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P2860
Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Autosomal recessive retinitis ...... premature truncation in PROM1.
@ast
Autosomal recessive retinitis ...... premature truncation in PROM1.
@en
type
label
Autosomal recessive retinitis ...... premature truncation in PROM1.
@ast
Autosomal recessive retinitis ...... premature truncation in PROM1.
@en
prefLabel
Autosomal recessive retinitis ...... premature truncation in PROM1.
@ast
Autosomal recessive retinitis ...... premature truncation in PROM1.
@en
P2093
P2860
P356
P1476
Autosomal recessive retinitis ...... premature truncation in PROM1.
@en
P2093
Esther Pomares
James Friedman
Joaquín Castro-Navarro
Jon Permanyer
Rafael Navarro
Roser Gonzàlez-Duarte
P2860
P304
P356
10.1167/IOVS.09-4857
P407
P577
2009-12-30T00:00:00Z