Results 111 to 120 of about 1,602 (139)

Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus [PDF]

Diabetologia, 2003
J M Dekker, Dekker J M, Heine R J
exaly   +3 more sources

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population [PDF]

Diabetologia, 2006
Alström syndrome is a rare monogenic disorder characterised by retinal dystrophy, deafness and obesity. Patients also have insulin resistance, central obesity and dyslipidaemia, thus showing similarities with type 2 diabetes. Rare mutations in the ALMS1 gene cause severe gene disruption in Alström patients; however, ALMS1 gene polymorphisms are common ...
Weedon M N, Frayling T M, Hattersley A T
exaly   +4 more sources

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome [PDF]

Nature Genetics, 2002
Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1-5). We have studied an individual with Alström syndrome carrying a familial balanced reciprocal chromosome translocation (46, XY,t(2;11)(p13;q21)mat ...
David Wilson, Dominique Bonneau, Tom Hearn   +2 more
exaly   +5 more sources

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Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene

Ophthalmic Genetics, 2018
Dear Editor,Alstrom syndrome (ALMS; MIM# 203800) is characterized by early onset cone-rod dystrophy (CRD), sensorineural hearing loss, obesity, cardiomyopathy, pulmonary disease, hepatic disease, r...
Alanoud Aldrees, Ehab Abdelkader, Hussain Al-Habboubi, Huda Alrwebah, Zuhair Rahbeeni, Patrik Schatz   +5 more
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Five novel ALMS1 gene mutations in six patients with Alström syndrome

Journal of Pediatric Endocrinology and Metabolism, 2018
Abstract Background: Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene. Methods: We describe the clinical and five novel mutational screening findings in six patients with Alström ...
Suna, Kılınç, Didem, Yücel-Yılmaz, Aylin, Ardagil, Süheyla, Apaydın, Diana, Valverde, Rıza Köksal, Özgül, Ayla, Güven   +6 more
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[Analysis of ALMS1 gene variants in seven patients with Alström syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To explore the genetic basis for 7 patients with Alström syndrome.DNA was extracted from peripheral blood samples of the patients and their parents. Whole exome sequencing was carried out for the patients. Suspected variant was verified by Sanger sequencing and bioinformatic analysis.Genetic testing revealed 12 variants of the ALMS1 gene among the 7 ...
Yu, Ding, Qianwen, Zhang, Yingzhong, He, Lei, Zhang, Niu, Li, Guoying, Chang, Yao, Chen, Jian, Wang, Jinjin, Wu, Lijun, Fu, Xiumin, Wang   +10 more
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Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action [PDF]

International Journal of Obesity, 2010
Alström syndrome is a rare genetic syndrome associated with early-onset obesity, severe insulin resistance (IR) that is disproportionate to the degree of adiposity and premature diabetes. The ALMS1 gene, which is mutated in Alström syndrome, encodes a giant 460 kDa centrosome- and basal body-associated protein.
Robert K Semple, Isabel Huang-Doran, Semple R K   +2 more
exaly   +3 more sources

Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity

Obesity Research & Clinical Practice, 2017
In the present study we report on genetic analysis in a patient with developmental delay, truncal obesity and vision problem, to find the causative mutation. Whole exome sequencing was performed on genomic DNA extracted from whole blood of the patient which revealed a homozygous nonsense variant (c.2816T>A) in exon 8 of ALMS1 gene that results in a ...
Aneek, Das Bhowmik, Neerja, Gupta, Ashwin, Dalal, Madhulika, Kabra   +3 more
openaire   +2 more sources

Abstract 104: Targeting the Alms1 Gene in Rats Causes Hypertension, Obesity and Enhanced NKCC2 Trafficking

Hypertension, 2015
Enhanced NaCl reabsorption by the thick ascending limb (TAL) is associated with salt sensitive hypertension in rodents and humans. NaCl absorption by the TAL depends on the apical Na/K/2Cl cotransporter - NKCC2. NKCC2 activity is regulated in part by protein-protein interactions with its carboxyl terminus that controls its trafficking to the apical ...
Ankita Bachhawat Jaykumar, Paulo Caceres, Emily Henson, Gustavo Ares, Pablo Ortiz   +4 more
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1821-P: Foz Foz Mice with a Mutation in the Alms1 Gene Model the Metabolic Syndrome with Advanced Stages of Nonalcoholic Steatohepatitis and Fibrosis

Diabetes, 2020
Nonalcoholic fatty liver disease (NAFLD) and its progression to nonalcoholic steatohepatitis (NASH) is highly prevalent in modern societies frequently consuming diets rich in fats and carbohydrates. NASH is characterized by liver steatosis, inflammation and increased risk for liver fibrosis in human.
JIANYING LIU, SHENG-PING WANG, KATHARINE E. D’AQUINO, GEORGE HO, NATHANIEL H. WALLACE, MATTHEW M. RANKIN, FUYONG DU, SIMON A. HINKE, KAMAL A. ALBARAZANJI, ANDREA R. NAWROCKI   +9 more
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