Results 121 to 130 of about 1,602 (139)

A CASE OF ALSTRÖM SYNDROME WITH A NOVEL VARIANT IN ALMS1 GENE PRESENTING WITH CONE ROD DYSTROPHY AS FIRST FINDING

RETINAL Cases & Brief Reports
Purpose: Alström syndrome is a rare autosomal recessive monogenic ciliopathy, which is caused by a mutation of the Alström syndrome 1 gene. It is a multisystemic disorder characterized by insulin resistance, childhood obesity, cardiomyopathy, progressive hepatic and renal failure, sensorineural hearing loss, and retinal ...
Busra Yen, Mukaddes Damla Ciftci, Filiz Afrashi, Huseyin Onay, Damla Goksen   +4 more
openaire   +3 more sources

Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alström syndrome by whole genome sequencing

Gene
Alström syndrome (ALMS), a rare recessively inherited ciliopathy caused by mutations in ALMS1, is characterized by retinal dystrophy, childhood obesity, sensorineural hearing loss, and type 2 diabetes mellitus. The majority of pathogenic variants in ALMS1 are nonsense and frameshift mutations, which would lead to premature protein truncation, whereas ...
Haikun, Xu, Ziju, Wang, Sha, Sa, Ying, Yang, Xiaofei, Zhang, Dejun, Li   +5 more
openaire   +2 more sources

Abstract 101: Alms1 (Alstrom Syndrome 1), a Novel Gene Involved in Blood Pressure Regulation, Renal Na Handling and Thick Ascending Limb (TAL) Function

Hypertension, 2016
Single nucleotide polymorphisms in the Alstrom syndrome 1 (ALMS1) gene are associated to hypertension, renal dysfunction, and obesity in the general population. The role of ALMS1 in regulating blood pressure or renal Na handling is unknown.
Ankita Bachhawat Jaykumar, Paulo Caceres, Gustavo Ares, William H Beierwaltes, Pablo A Ortiz   +4 more
openaire   +1 more source

Whole exome sequencing of ALMS1 gene identified a novel pathogenic homozygous mutation (c.3132_3133delAC/p.Gln1045ValfsTer2) in a turkish family

2023
Backgroud: Alstrom syndrome (AS) is a rare autosomal recessive disorder caused by pathogenic mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) gene. Case Presentation: A 13.5-year-old male patient, who was born from consanguineous parents of Turkish descent, applied due to the complaint of obesity and non palpable testes.
Kılıçaslan, O., Eröz, Recep
openaire   +1 more source

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

Clinical Genetics, 2004
TITOMANLIO, LUIGI, DE BRASI, DANIELE, BUONINCONTI A, SPERANDEO MP, PEPE A, ANDRIA, GENEROSO, SEBASTIO, GIANFRANCO   +6 more
openaire   +3 more sources

Gene symbol: ALMS1.

Human genetics, 2007
K J, Flintoff, Daniela, Pilz
openaire   +3 more sources

ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia

Frontiers in Cell and Developmental Biology, 2021
Søren Tvorup Christensen, Sheila Castro-Sánchez, Diana Valverde   +2 more
exaly  

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family

Clinical Genetics, 2015
Nikopoulos, K., Butt, G. U., Farinelli, P., Mudassar, M., Domènech-Estévez, E., Samara, C., Kausar, M., Masroor, I., Chrast, R., Rivolta, C., Siddiqi, S.   +10 more
openaire   +4 more sources

Five novel ALMS1 gene mutations in six patients with Alström syndrome

Journal of Pediatric Endocrinology and Metabolism, 2018
Süheylâ Apaydin, Riza Koksal Özgül, Suna Kilinc   +2 more
exaly  

Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.

Human genetics, 2007
Kimberley, Flintoff, Richard, Paisey
openaire   +3 more sources