New Alström syndrome phenotypes based on the evaluation of 182 cases. - Wikidata - awgldk - TriplyDB

New Alström syndrome phenotypes based on the evaluation of 182 cases.

New Alström syndrome phenotypes based on the evaluation of 182 cases.

http://www.wikidata.org/entity/Q43495083

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A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence Alstrom syndrome (OMIM 203800): a case report and literature review Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731 Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway Alström syndrome: current perspectives GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.Alms1-disrupted mice recapitulate human Alström syndrome.Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells.Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study Cardiac magnetic resonance imaging in Alström syndrome Adaptations to climate in candidate genes for common metabolic disorders Nephronophthisis: disease mechanisms of a ciliopathy.The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey Combined occurrence of diabetes mellitus and retinitis pigmentosa.ALMS1-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.Genomic insights into early-onset obesity.Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1 Primary cilia in pancreatic development and disease.Metabolic syndrome features presenting in early childhood in Alström syndrome: a case report The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations.Pediatric myocarditis: A sentinel of non-cardiac chronic diseases?The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy.Nephronophthisis.EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report.Coronary artery disease in Alström syndrome Novel Alu retrotransposon insertion leading to Alström syndrome Alström Syndrome: Mutation Spectrum of ALMS1.Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome.The progression from obesity to type 2 diabetes in Alström syndrome.Endocrine manifestations related to inherited metabolic diseases in adults.Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.Histopathology of the human inner ear in Alström's syndrome Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.Alström syndrome: cardiac magnetic resonance findings.High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease

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P2860

New Alström syndrome phenotypes based on the evaluation of 182 cases.

http://www.wikidata.org/entity/Q43495083

description

2005 nî lūn-bûn

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2005年の論文

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2005年学术文章

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2005年学术文章

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2005年學術文章

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name

New Alström syndrome phenotypes based on the evaluation of 182 cases.

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New Alström syndrome phenotypes based on the evaluation of 182 cases.

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type

label

New Alström syndrome phenotypes based on the evaluation of 182 cases.

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New Alström syndrome phenotypes based on the evaluation of 182 cases.

@nl

prefLabel

New Alström syndrome phenotypes based on the evaluation of 182 cases.

@en

New Alström syndrome phenotypes based on the evaluation of 182 cases.

@nl

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JAMA Internal Medicine

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New Alström syndrome phenotypes based on the evaluation of 182 cases.

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Anne D Nordstrom

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Catherine Carey

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Cristina Maria Mihai

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675-683

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Maria Hoeltzenbein

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