Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome
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A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescenceLinking human diseases to animal models using ontology-based phenotype annotationThe dynamic cilium in human diseasesAlstrom syndrome (OMIM 203800): a case report and literature reviewCep164, a novel centriole appendage protein required for primary cilium formationCentriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathwayAlström syndrome: current perspectivesThe role of primary cilia in the development and disease of the retinaPrimary cilia in the developing and mature brainGLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistanceGenetic & epigenetic approach to human obesityAlström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.Alms1-disrupted mice recapitulate human Alström syndrome.Finding new genes for non-syndromic hearing loss through an in silico prioritization studyCharacterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells.The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transportersCardiac magnetic resonance imaging in Alström syndromeCep70 and Cep131 contribute to ciliogenesis in zebrafish embryos.Nephronophthisis: disease mechanisms of a ciliopathy.Proteomic profiling of human intraschisis cavity fluidThe phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in TurkeyALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis.Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia.Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1Proteomic analysis of mitotic RNA polymerase II reveals novel interactors and association with proteins dysfunctional in disease.Metabolic syndrome features presenting in early childhood in Alström syndrome: a case reportSyndromic obesity: clinical implications of a correct diagnosis.Ciliopathies: an expanding disease spectrum.The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations.EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.Molecular basis of the obesity associated with Bardet-Biedl syndrome.Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes.Isolation and characterization of the TIGA genes, whose transcripts are induced by growth arrestClinical utility gene card for: Alström syndrome.Novel Alu retrotransposon insertion leading to Alström syndromeAlström Syndrome: Mutation Spectrum of ALMS1.Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome.
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P2860
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome
description
2002 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մայիսին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 2002
@ast
im Mai 2002 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2002/05/01)
@sk
vědecký článek publikovaný v roce 2002
@cs
wetenschappelijk artikel (gepubliceerd op 2002/05/01)
@nl
наукова стаття, опублікована в травні 2002
@uk
name
Mutations in ALMS1 cause obesi ...... generation in Alström syndrome
@ast
Mutations in ALMS1 cause obesi ...... generation in Alström syndrome
@en
Mutations in ALMS1 cause obesi ...... generation in Alström syndrome
@nl
type
label
Mutations in ALMS1 cause obesi ...... generation in Alström syndrome
@ast
Mutations in ALMS1 cause obesi ...... generation in Alström syndrome
@en
Mutations in ALMS1 cause obesi ...... generation in Alström syndrome
@nl
prefLabel
Mutations in ALMS1 cause obesi ...... generation in Alström syndrome
@ast
Mutations in ALMS1 cause obesi ...... generation in Alström syndrome
@en
Mutations in ALMS1 cause obesi ...... generation in Alström syndrome
@nl
P2093
P921
P3181
P356
P1433
P1476
Mutations in ALMS1 cause obesi ...... generation in Alström syndrome
@en
P2093
Akihiro Ikeda
Cornelius F. Boerkoel
Gayle B. Collin
Isabelle Russell-Eggitt
Jan D. Marshall
Jürgen K. Naggert
Mitchell Martin
Nicola Sicolo
Patsy M. Nishina
Pietro Maffei
P2888
P3181
P356
10.1038/NG867
P407
P577
2002-05-01T00:00:00Z