A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
about
Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosaAC133-2, a novel isoform of human AC133 stem cell antigenIdentification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosaMutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in miceCharacterization of prominin-2, a new member of the prominin family of pentaspan membrane glycoproteinsCone-rod dystrophy and a frameshift mutation in the PROM1 geneHuman embryonic and neuronal stem cell markers in retinoblastomaRetinal dystrophies, genomic applications in diagnosis and prospects for therapyCD133/prominin-1-mediated autophagy and glucose uptake beneficial for hepatoma cell survivalMonoclonal Antibodies 13A4 and AC133 Do Not Recognize the Canine Ortholog of Mouse and Human Stem Cell Antigen Prominin-1 (CD133)Applications of phototransformable fluorescent proteins for tracking the dynamics of cellular componentsThe human AC133 hematopoietic stem cell antigen is also expressed in epithelial cells and targeted to plasma membrane protrusionsMolecular diagnosis of putative Stargardt disease by capture next generation sequencingThe actomyosin machinery is required for Drosophila retinal lumen formationThe proteome of the mouse photoreceptor sensory cilium complexCD133 is a modifier of hematopoietic progenitor frequencies but is dispensable for the maintenance of mouse hematopoietic stem cells.chaoptin, prominin, eyes shut and crumbs form a genetic network controlling the apical compartment of Drosophila photoreceptor cellsExpression of the "stem cell marker" CD133 in pancreas and pancreatic ductal adenocarcinomasCD133+ adult human retinal cells remain undifferentiated in Leukaemia Inhibitory Factor (LIF)Differential distribution of proteins and lipids in detergent-resistant and detergent-soluble domains in rod outer segment plasma membranes and disks.Mouse tissues express multiple splice variants of prominin-1Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.Distinct and conserved prominin-1/CD133-positive retinal cell populations identified across speciesGenome and transcriptome profiles of CD133-positive colorectal cancer cells.Proteome of human colon cancer stem cells: a comparative analysisThe importance of the stem cell marker prominin-1/CD133 in the uptake of transferrin and in iron metabolism in human colon cancer Caco-2 cellsOverexpression of CD133 promotes drug resistance in C6 glioma cells.Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.Prominin: a story of cholesterol, plasma membrane protrusions and human pathology.Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.Detection of CD133 (prominin-1) in a human hepatoblastoma cell line (HuH-6 clone 5).The utility and limitations of glycosylated human CD133 epitopes in defining cancer stem cells.Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.The genetics of inherited macular dystrophies.Genetic factors of age-related macular degeneration.CD133+ colon cancer cells are more interactive with the tumor microenvironment than CD133- cells.Prominin-1 localizes to the open rims of outer segment lamellae in Xenopus laevis rod and cone photoreceptors.Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.Cone outer segments: a biophysical model of membrane dynamics, shape retention, and lamella formation.
P2860
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P2860
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
description
2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artikull shkencor
@sq
artículu científicu espublizáu en 2000
@ast
im Januar 2000 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в січні 2000
@uk
مقالة علمية (نشرت عام 2000)
@ar
name
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
@ast
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
@en
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
@nl
type
label
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
@ast
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
@en
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
@nl
prefLabel
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
@ast
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
@en
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
@nl
P2093
P3181
P356
P1476
A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
@en
P2093
A Weigmann
D Nancarrow
G Kumaramanickavel
J C Wilson-Wheeler
M J Denton
R J Bridges
P3181
P356
10.1093/HMG/9.1.27
P577
2000-01-01T00:00:00Z