Results 41 to 50 of about 615 (141)
Charakterisierung von ALMS1 (Alstrom syndrome 1)-Transkripten in Hodgkin-Lymphom-Zellen [PDF]
, 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.
Braune, Katarina
core +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
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Infant Alstrom syndrome diagnosed by a new gene mutation: a case report
Journal of International Medical Research, 2023 Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. Here, we present the clinical data of a case of an infant diagnosed with Alstrom syndrome through whole-exome sequencing.
Yujiao Ye +4 more
doaj +1 more source
ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits [PDF]
Journal of Molecular Medicine, 2018 Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. Elucidating the function of the mutated gene, ALMS1, is critical for the development of specific treatments and may uncover pathways relevant to a range of other disorders including common forms ...
openaire +4 more sources
Whole Exome Sequencing of ALMS1 gene Identified a Novel Pathogenic Homozygous Mutation (c.3132_3133delAC/p.Gln1045ValfsTer2) in a Turkish Family [PDF]
, 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.
Kılıçarslan, Orhan, Eröz, Recep
core +2 more sources
Yeast two hybrid analysis of ALMS1.
, 2013 (A) Alms1-C-terminal bait used for yeast two hybrid. (B) Bacterial induction of ALMS-C lumio fusion protein reveals a 55 kDa band of expected size. B = Benchmark fluorescent ladder (Invitrogen); P = pellet; S = supernatant (C) Immunoblot using anti-ALMS ...
Jan D. Marshall (223480) +6 more
core +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
AnimalsFeline hypertrophic cardiomyopathy (HCM) is the most common cardiac disease in cats, causing morbidity and mortality. Recently, a variant in the Alström syndrome protein 1 (ALMS1) gene has been reported to be associated with HCM in Sphynx cats.
Metita Sussadee +5 more
doaj +1 more source
Pediatric Investigation, Volume 10, Issue 4, Page 333-344, August 2026.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
Distribution of ALMS1 during cell division.
, 2013 (A–C) Spatial distribution of N-terminal ALMS1 and C-terminal ALMS1 during cytokinesis. ALMS-Ntr (A, green) is found within the centrioles at the spindle poles.
Jan D. Marshall (223480) +6 more
core +1 more source