Results 51 to 60 of about 1,602 (139)
Alstrom syndrome (OMIM 203800): a case report and literature review
Orphanet Journal of Rare Diseases, 2007 Background Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss.
Hegele Robert A +6 more
doaj +1 more source
GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance. [PDF]
PLoS ONE, 2014 Dysregulation of signaling pathways in adipose tissue leading to insulin resistance can contribute to the development of obesity-related metabolic disorders.
Francesca Favaretto +7 more
doaj +1 more source
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
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
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
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
Advanced Science, Volume 13, Issue 44, 7 August 2026.This review explains how chronic liver injury progresses toward hepatocellular carcinoma through interconnected changes in gut microbes, metabolism, immunity, fibrosis, and diet. It highlights microbial metabolites, bile‐acid signaling, immune dysfunction, and nutritional or microbiome‐based interventions as opportunities to identify risk earlier ...
Yi Hu +5 more
wiley +1 more source
The FASEB Journal, Volume 40, Issue 14, 31 July 2026.The identification of a patient carrying a novel homozygous p.(Gln206Ter) POC5 variant revealed a metabolic phenotype associated with POC5 deficiency. POC5 deficiency disrupts centriolar architecture and ciliary organization, leading to impaired proliferation, premature cellular senescence, and reduced insulin signaling.
Valeria Pistorio +10 more
wiley +1 more source
, 2021 Additional file 2: Supplemental Table 2. Amino Acid Conservation.
Meurs, Kathryn M. +9 more
openaire +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