Results 171 to 180 of about 6,753,476 (214)

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

Ophthalmic Genetics, 2018
Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia; King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia; Ophthalmology Department, Royal Alexandra Hospital, Paisley, UK; Ophthalmology Department ...
Alanoud Aldrees, Ehab Abdelkader, Hussain F Al-Habboubi, Huda Al-Rwebah, Zuhair Rahbeeni, Patrik Schatz   +5 more
semanticscholar   +4 more sources

A CASE OF ALSTRÖM SYNDROME WITH A NOVEL VARIANT IN ALMS1 GENE PRESENTING WITH CONE ROD DYSTROPHY AS FIRST FINDING

RETINAL Cases & Brief Reports
Alström Syndrome is a rare autosomal recessive monogenic ciliopathy with multisystem involvement. In this study, the authors aimed to report a novel variant in ALMS1 gene causing Alström syndrome in a patient presenting firstly with cone–rod dystrophy ...
B. Lin Ju Yen, Mukaddes Damla Çiftçi, Filiz Afrashı, Hüseyin Önay, Damla Gökşen   +4 more
semanticscholar   +4 more sources

[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
semanticscholar   +4 more sources

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
semanticscholar   +4 more sources

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

Obesity Research & Clinical Practice, 2016
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
semanticscholar   +4 more sources

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

Clinical Genetics, 2004
Luigi Titomanlio, Daniele De Brasi, Anna Buoninconti, Maria Pia Sperandeo, Antonio Pepe, Generoso Andria, Gianfranco Sebastio   +6 more
semanticscholar   +5 more sources

Identification of novel compound heterozygous variants of the ALMS1 gene in a child with Alström syndrome by whole genome sequencing

Gene
Alström syndrome (ALMS), a rare recessively inherited ciliopathy caused by mutations in ALMS1, is characterized by retinal dystrophy, childhood obesity, sensorineural hearing loss, and type 2 diabetes mellitus. The majority of pathogenic variants in ALMS1 are nonsense and frameshift mutations, which would lead to premature protein truncation, whereas ...
Haikun Xu, Ziju Wang, Sha Sa, Yang Ying, Xiaofei Zhang, Dejun Li   +5 more
semanticscholar   +4 more sources

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.
Isabel Huang‐Doran, Robert K. Semple
openalex   +3 more sources

Abstract 101: Alms1 (Alstrom Syndrome 1), a Novel Gene Involved in Blood Pressure Regulation, Renal Na Handling and Thick Ascending Limb (TAL) Function

Hypertension, 2016
Single nucleotide polymorphisms in the Alstrom syndrome 1 (ALMS1) gene are associated to hypertension, renal dysfunction, and obesity in the general population. The role of ALMS1 in regulating blood pressure or renal Na handling is unknown.
Ankita B. Jaykumar, Paulo S. Caceres, Gustavo Ares, William H. Beierwaltes, Pablo A. Ortiz   +4 more
openalex   +2 more sources

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1678-P: B6-Alms1-del Mice, a Metabolic Syndrome Animal Model, Shows Semaglutide Benefits on Obesity, Hyperglycemia, and NAFL

Diabetes, 2023
Metabolic syndrome is a cluster of conditions that occur together, increasing the risk of heart disease, stroke and type 2 diabetes. These conditions include obesity, hyperglycemia, hypertension, hyperlipidemia. Leptin and leptin receptor mutant mice, ob/
Zhong Chen, Maomao Gao, Xinyue Zhao, Zhiying Li, Jing Zhao, Cunxiang Ju, Xiang Gao   +6 more
semanticscholar   +1 more source