Results 41 to 50 of about 1,999 (178)
Mechanisms underlying cardiometabolic complications of Alström Syndrome [PDF]
, 2023 Alström Syndrome (AS) is a rare autosomal recessive disease featuring early onset, severely insulin resistant diabetes, fatty liver and heart failure among other characteristics.
McKay, Eleanor Jane
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Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome [PDF]
Eye, 2008 To report a novel mutation of ALMS1 in a Chinese family with Alström syndrome.Observational case report and results of DNA analysis.A family including one patient and four unaffected relatives was examined clinically. One hundred normal Chinese individuals served as control subjects.
L, Liu, B, Dong, X, Chen, J, Li, Y, Li
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Orphanet Journal of Rare Diseases, 2021 Background Familial hypertrophic cardiomyopathy is a common inherited cardiovascular disorder in people. Many causal mutations have been identified, but about 40% of cases do not have a known causative mutation. Mutations in the ALMS1 gene are associated
Kathryn M. Meurs +9 more
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N-Terminal Alms1 Protein Can Support Cilia Formation [PDF]
, 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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Distribution of ALMS1 during cell division. [PDF]
, 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
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Yeast two hybrid analysis of ALMS1. [PDF]
, 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
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DNA microarray signal intensities of ALMS1, ALMS1P, and ALMS1-IT1 specific probe sets. [PDF]
, 2017 DNA microarray data from a panel of normal tissues, HL biopsies, micro-dissected HL cells, and HL cell lines [6,27–33] were analyzed for expression of ALMS1 (probe sets 214707_x_at, 214220_s_at, and 214221_at), ALMS1P (probe set 1552576_at), and ALMS1 ...
Martin S. Staege (281214) +2 more
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Unique phenotypic–genotypic correlation in Saudi patients with ALMS1 mutations
Saudi Journal of Ophthalmology, 2023 Abstract Mutations in the ALMS1 gene have been linked to isolated inherited retinal dystrophy or Alström syndrome. This report illustrates the unique pattern of ALMS1-associated diseases in a set of three simplex Saudi patients originating from unrelated consanguineous families.
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The FASEB Journal, 2020 Inactivating mutations in the ALMS1 gene in humans cause early onset obesity and metabolic syndrome. Deletion of ALMS1 in rodents induces early onset obesity and insulin resistance on normal chow. The mechanisms by which ALMS1 cause obesity are not clear but likely involve the development
Victoria C. Ortiz +3 more
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PLoS ONE, 2023 Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats with a suspected genetic origin. Previous studies have identified five HCM-associated variants in three genes (Myosin binding protein C3: MYBPC3 p.A31P, p.A74T, p.R820W; Myosin ...
Noriyoshi Akiyama +5 more
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