Results 91 to 100 of about 615 (141)
BMC PediatricsBackground Alström syndrome (AS) is a rare autosomal recessive disorder that leads to multiple organ fibrosis and failure. Precise diagnosis from the clinical symptoms is challenging due to its highly variabilities and its frequent confusion with other ...
Ming Hu +3 more
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ALMS1 deletion in rats causes hyperleptinemia, progressive obesity, and renal damage
The FASEB Journal, 2019 Genome‐wide association studies identified single nucleotide polymorphisms in the Alström syndrome 1 (ALMS1) gene linked to chronic kidney disease (CKD). ALMS1 has also been associated to obesity and insulin resistance. Inactivating mutations in the ALMS1 gene cause Alström syndrome in humans, characterized by early onset obesity, insulin resistance ...
Sumit Monu +3 more
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The EMBO JournalCentrioles play a central role in cell division by recruiting pericentriolar material (PCM) to form the centrosome. Alterations in centriole number or function lead to various diseases including cancer or microcephaly.
Marine Brunet +8 more
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Novel ALMS1 mutations in Chinese patients with Alström syndrome.
Molecular vision, 2014 Alström syndrome (AS) is a rare monogenic autosomal recessively inherited disorder characterized by cone rod dystrophy and multiple organ dysfunction. Mutations in the Alström syndrome 1 (ALMS1) gene have been found to be causative for AS. The purpose of this study was to identify ALMS1 mutations and to assess the clinical features of Chinese patients ...
Xiaofang, Liang +5 more
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Detection and localization of ALMS1 protein in HL cells.
, 2017 A) Flow cytometric analysis of ALMS1 expression in HL cell lines. HL cell lines KM-H2 (red lines) and L-428 (green lines) were stained intracellularly with anti-ALMS1 antibodies (solid lines). Cells stained with secondary antibody alone served as control
Martin S. Staege (281214) +2 more
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Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice
Biochemical and Biophysical Research Communications, 2006 The biochemical differences between simple steatosis, a benign liver disease, and non-alcoholic steatohepatitis, which leads to cirrhosis, are unclear. Fat aussie is an obese mouse strain with a truncating mutation (foz) in the Alms1 gene. Chow-fed female foz/foz mice develop obesity, diabetes, and simple steatosis.
Arsov, Todor +7 more
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Interactome Analysis Reveals a Link of the Novel ALMS1-CEP70 Complex to Centrosomal Clusters
Molecular & Cellular ProteomicsAlström syndrome (ALMS) is a very rare autosomal-recessive disorder, causing a broad range of clinical defects most notably retinal degeneration, type 2 diabetes, and truncal obesity. The ALMS1 gene encodes a complex and huge ∼0.5 MDa protein, which has hampered analysis in the past.
Woerz, Franziska +10 more
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Frontiers in PediatricsBackgroundObesity–retinopathy–diabetes syndrome, also known as Alström syndrome (AS), is an extremely rare autosomal recessive disorder caused by pathogenic variants in the Alström syndrome 1 (ALMS1) gene. Its estimated incidence is 1–9 cases per million,
Hua Wang +9 more
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ALMS1 KO rat: a new model of metabolic syndrome with spontaneous hypertension
Abstract ALMS1 is a protein initially associated with Alström syndrome. This is a rare human disorder characterized by metabolic dysfunction, hypertension, obesity and hyperinsulinemia. In addition, ALMS1 gene was linked to hypertension status in a multipoint linkage population ...
Jaykumar, Ankita B. +4 more
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Orphanet Journal of Rare DiseasesBackground Alström syndrome (ALMS) is a rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in the ALMS1 gene, characterized by progressive cone-rod dystrophy, early-onset obesity, cardiomyopathy, and multiorgan ...
Yiguo Huang +8 more
doaj +1 more source