Results 41 to 50 of about 3,214 (198)

alms1 regulates the immune response and brain ageing in zebrafish [PDF]

ABSTRACT TheALMS1gene plays a crucial role in maintaining cellular homeostasis through its involvement in primary cilium assembly, cytoskeletal regulation, and signalling pathways such as NOTCH and TGF-β. Pathogenic variants inALMS1are associated with Alström Syndrome (ALMS), a multi-systemic ciliopathy characterised by neurosensory deficits, metabolic
Brais Bea-Mascato, Luis Méndez-Martínez, Carolina Costas-Prado, Laura Guerrero-Peña, Paula Suarez-Bregua, Josep Rotllant, Diana Valverde   +6 more
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ALMS1KO rat: a new model of metabolic syndrome with spontaneous hypertension

AbstractALMS1 is a protein initially associated with Alström syndrome. This is a rare human disorder characterized by metabolic dysfunction, hypertension, obesity and hyperinsulinemia. In addition,ALMS1gene was linked to hypertension status in a multipoint linkage population analysis.
Jaykumar, Ankita B., Monu, Sumit R., Mendez, Mariela, Rhaleb, Nour-Eddine, Ortiz, Pablo A.   +4 more
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Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]

, 2015
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire, Barrett, Jeff, Barroso, Inês, Chen, Jian Hua, Durbin, Richard, Farooqi, Sadaf, Fitzpatrick, David, Geschwind, Daniel, Huang Doran, Isabel, Hurles, Matt, Kaye, Jane, Keane, Thomas, Kennedy, Karen, Langford, Cordelia, Mccarthy, Shane, Muddyman, Dawn, Owen, Michael, O’Rahilly, Stephen, Palotie, Aarno, Payne, Felicity, Richards, Bren, Savage, David B., SEGNI, Maria, Semple, Robert K., Sleigh, Alison, Soranzo, Nicole, Spector, Tim, Stalker, Jim, Timpson, Nic, Zeggini, Eleftheria   +29 more
core   +12 more sources

The lncRNA ALMS1‐IT1 may promote malignant progression of lung adenocarcinoma via AVL9‐mediated activation of the cyclin‐dependent kinase pathway

FEBS Open Bio, 2021
Lung adenocarcinoma (LUAD) is the primary epithelial tumor of the lung. The lack of clinical symptoms and specific molecular diagnostic indicators during the early stages of LUAD mean that the disease may not be detected until late stages, and the 5‐year
Tian Luan, Tian‐Ye Zhang, Zhong‐Hua Lv, Bi‐Xi Guan, Jian‐Yu Xu, Jian Li, Ming‐Xu Li, Song‐Liu Hu   +7 more
doaj   +1 more source

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy

Disease Models & Mechanisms
Eleanor J. McKay, Ineke Luijten, Sophie Broadway-Stringer, Adrian Thomson, Xiong Weng, Katya Gehmlich, Gillian A. Gray, Robert K. Semple   +7 more
doaj   +2 more sources

Alström Syndrome: Mutation Spectrum ofALMS1 [PDF]

Human Mutation, 2015
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood obesity, type 2 diabetes mellitus, cardiomyopathy, fibrosis, and multiple organ failure.
Marshall, Jan D., Muller, Jean, Collin, Gayle B., MILAN, GABRIELLA, Kingsmore, Stephen F., Dinwiddie, Darrell, Farrow, Emily G., Miller, Neil A., FAVARETTO, FRANCESCA, MAFFEI, PIETRO, Dollfus, Hélène, VETTOR, ROBERTO, Naggert, Jürgen K.   +12 more
openaire   +3 more sources

Alms1-disrupted mice recapitulate human Alström syndrome [PDF]

Human Molecular Genetics, 2005
Mutations in the human ALMS1 gene cause Alström syndrome (AS), a progressive disease characterized by neurosensory deficits and by metabolic defects including childhood obesity, hyperinsulinemia and Type 2 diabetes. Other features that are more variable in expressivity include dilated cardiomyopathy, hypertriglyceridemia, hypercholesterolemia ...
Collin, G B, Cyr, E, Bronson, R, Marshall, J D, Gifford, E J, Hicks, W, Murray, S A, Zheng, Q Y, Smith, R S, Nishina, P M, Naggert, J K   +10 more
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Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome

Internal Medicine, 2021
Objective Alström syndrome is an autosomal recessive genetic disease caused by a mutation in the ALMS1 gene. Alström syndrome is clinically characterized by multisystem involvement, including sensorineural deafness, cone-rod dystrophy, nystagmus, obesity, insulin resistance, type 2 diabetes and hypogonadism.
Wang, Chunmei, Luo, Xiaona, Wang, Yilin, Liu, Zhao, Wu, Shengnan, Wang, Simei, Lan, Xiaoping, Xu, Quanmei, Xu, Wuhen, Yuan, Fang, Wang, Anqi, Zeng, Fanyi, Jia, Jia, Chen, Yucai   +13 more
openaire   +3 more sources

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

Human Genome Variation, 2021
Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs ...
Natarajan N. Srikrupa, Sarangapani Sripriya, Suriyanarayanan Pavithra, Parveen Sen, Ravi Gupta, Sinnakaruppan Mathavan   +5 more
doaj   +1 more source

A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat

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, Brian G. Williams, Dylan DeProspero, Steven G. Friedenberg, David E. Malarkey, J. Ashley Ezzell, Bruce W. Keene, Darcy B. Adin, Teresa C. DeFrancesco, Sandra Tou   +9 more
doaj   +1 more source