Results 81 to 90 of about 1,617 (137)

Novel ALMS1 mutations in Chinese patients with Alström syndrome.

Molecular vision, 2014
Alström syndrome (AS) is a rare monogenic autosomal recessively inherited disorder characterized by cone rod dystrophy and multiple organ dysfunction. Mutations in the Alström syndrome 1 (ALMS1) gene have been found to be causative for AS. The purpose of this study was to identify ALMS1 mutations and to assess the clinical features of Chinese patients ...
Xiaofang, Liang, Hui, Li, Huajin, Li, Fei, Xu, Fangtian, Dong, Ruifang, Sui   +5 more
openaire   +1 more source

Interactome Analysis Reveals a Link of the Novel ALMS1-CEP70 Complex to Centrosomal Clusters. [PDF]

Mol Cell Proteomics
Alström syndrome (ALMS) is a very rare autosomal-recessive disorder, causing a broad range of clinical defects most notably retinal degeneration, type 2 diabetes, and truncal obesity. The ALMS1 gene encodes a complex and huge ∼0.5 MDa protein, which has hampered analysis in the past.
Woerz F, Hoffmann F, Antony S, Bolz S, Jarboui MA, Junger K, Klose F, Stehle IF, Boldt K, Ueffing M, Beyer T.   +10 more
europepmc   +3 more sources

Charakterisierung von ALMS1 (Alstrom syndrome 1)-Transkripten in Hodgkin-Lymphom-Zellen

, 2017
Das ALMS1 (Alstrom syndrome 1)-Gen zählt zu den größten bekannten krankheitsassoziierten Genen des menschlichen Genoms und ist an Zellzykluskontrolle, Ziliogenese, Recycling von Endosomen und intrazellulären Transportmechanismen beteiligt. Mutationen in ALMS1 sind pathogen für das Alström-Syndrom, einer seltenen genetischen Multisystemerkrankung.
openaire   +2 more sources

Alström syndrome: current perspectives

The Application of Clinical Genetics, 2015
María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain Abstract: Alström syndrome (ALMS)
Álvarez-Satta M, Castro-Sánchez S, Valverde D   +2 more
doaj  

Abstract

JPGN Reports, Volume 6, Issue S2, Page S1-S814, September 2025.
wiley   +1 more source

ALMS1KO rat: a new model of metabolic syndrome with spontaneous hypertension

AbstractALMS1 is a protein initially associated with Alström syndrome. This is a rare human disorder characterized by metabolic dysfunction, hypertension, obesity and hyperinsulinemia. In addition,ALMS1gene was linked to hypertension status in a multipoint linkage population analysis.
Jaykumar, Ankita B., Monu, Sumit R., Mendez, Mariela, Rhaleb, Nour-Eddine, Ortiz, Pablo A.   +4 more
openaire   +2 more sources

ALMS1–NKCC2 interactions [PDF]

Nature Reviews Nephrology, 2018
openaire   +2 more sources

Infantile Dilated Cardiomyopathy Diagnosed as Alstrom Syndrome in Later Childhood: A Report of Two Siblings

Indian Pediatrics Case Reports
Background: Alstrom syndrome is a rare autosomal recessive multisystem disorder due to a mutation in the ALMS1 gene, characterized by various combinations of dilated cardiomyopathy (DCM), cone-rod dystrophy, hearing loss, childhood obesity, Type 2 ...
Vimalarani Arulselvam, Suad Al Amer, Neale Nicola Kalis   +2 more
doaj   +1 more source

2024 SMFM Global Congress Abstracts

Pregnancy, Volume 1, Issue 2, March 2025.
wiley   +1 more source

alms1 regulates the immune response and brain ageing in zebrafish

ABSTRACT TheALMS1gene plays a crucial role in maintaining cellular homeostasis through its involvement in primary cilium assembly, cytoskeletal regulation, and signalling pathways such as NOTCH and TGF-β. Pathogenic variants inALMS1are associated with Alström Syndrome (ALMS), a multi-systemic ciliopathy characterised by neurosensory deficits, metabolic
Brais Bea-Mascato, Luis Méndez-Martínez, Carolina Costas-Prado, Laura Guerrero-Peña, Paula Suarez-Bregua, Josep Rotllant, Diana Valverde   +6 more
openaire   +1 more source