Results 51 to 60 of about 1,783 (168)
Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the
Acta Ophthalmologica, 2017 AbstractPurposeWe aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone‐rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene.MethodsSeven patients with Alström syndrome (ALMS) were included in the study.
Nasser, Fadi +7 more
openaire +2 more sources
Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]
Diabetes & Metabolism Journal, 2015 BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim +6 more
doaj +1 more source
Fat Aussie - a new Alstrom syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis [PDF]
, 2006 Mutations in the human ALMS1 gene are responsible for Alström syndrome, a disorder in which key metabolic and endocrinological features include childhood-onset obesity, metabolic syndrome, and diabetes, as well as infertility.
de Krester, DM +28 more
core +1 more source
Alstrom Syndrome with Novel ALMS1 Mutations: A Case Report
, 2017 Objective To report novel mutations of ALMS1 and evaluate clinical characteristics in the Chinese Child with Alstrom syndrome (ALMS). Methods The Child and his parents were examined clinically and venous blood was collected.
Hong Li, Lixin Shi, Lanrong Liu
core +1 more source
Neuronal cilia and appetite regulation in Alms1 mutant mice [PDF]
, 2018 The foz/foz mouse is a murine model of Alstr{u00F6}m syndrome, a monogenetic disorder characterised in humans by childhood obesity, hearing loss, blindness, hyperinsulinaemia, early-onset type 2 diabetes and liver disease. In 2006, research from the host
Heydet, Deborah
core +1 more source
ALSTRÖM SYNDROME CAUSED BY DELETION IN ALMS1 GENE FIXED IN A NORTHERN PAKISTAN RECURRENT HAPLOTYPE
Indian Journal of Case Reports, 2017 Reduced genetic variability in isolated populations promotes the prevalence of long contiguous stretches of homozygosity (LCSH) that may carry deleterious mutations, manifesting recessive syndromes such as Alstrom syndrome (OMIM # 203800), caused principally by mutations in exons 8, 10, and 16 and deletions/insertions along the ALMS1 gene. Here, Sanger
Carolina Monzo +7 more
openaire +2 more sources
Alms1-disrupted mice recapitulate human Alstrom syndrome.
, 2005 Mutations in the human ALMS1 gene cause Alstrom syndrome (AS), a progressive disease characterized by neurosensory deficits and by metabolic defects including childhood obesity, hyperinsulinemia and Type 2 diabetes.
Hicks, W +10 more
core +1 more source
Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
N-Terminal Alms1 Protein Can Support Cilia Formation
, 2013 (A) Cotransfection of Alms1a siRNA-treated cells with a 5′ Alms1 cDNA construct rescues primary cilia formation in mIMCD3 cells.(B) Real-time PCR analysis of Alms1a siRNA and N-terminal Alms1-transfected cells. Upper panel: over-expression of the 5′ cDNA
Guochun Li (273973) +8 more
core +1 more source
PM&R, Volume 18, Issue 4, Page 426-442, April 2026.Abstract Background Osteoporosis fractures pose a significant public health concern, leading to substantial morbidity and mortality rates. The emerging evidence on the potential link between gut microbiota, proteins, and osteoporosis fractures suggests a complex relationship that warrants further investigation.
Qiong Wang +6 more
wiley +1 more source