Results 21 to 30 of about 1,617 (137)

Multi-matrix metabolomics in rare monogenic diabetes syndromes: Analysis of oral fluids and serum in carriers of pathogenic variants in the ALMS1/BBS genes [PDF]

Computational and Structural Biotechnology Journal
Metabolomic profiling enables the identification of specific biochemical alterations in various diseases, including rare monogenic diabetes and obesity syndromes such as Alström syndrome (ALMS) and Bardet–Biedl syndrome (BBS).
Ewa Zmysłowska-Polakowska, Patrycja Mojsak, Sebastian Skoczylas, Krzysztof Sołowiej, Sandra Chmielewska, Julia Grzybowska-Adamowicz, Aleksandra Palatynska-Ulatowska, Monika Lukomska-Szymanska, Adam Kretowski, Agnieszka Zmysłowska, Michał Ciborowski   +10 more
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ALMS1-IT1: A Key Player in the Novel Disulfidptosis-Related LncRNA Prognostic Signature for Head and Neck Squamous Cell Carcinoma [PDF]

Biomolecules
Disulfidptosis is a newly discovered form of programmed cell death that is induced by disulfide stress. It is closely associated with various cancers, including head and neck squamous cell carcinoma (HNSCC).
Xin-Yi Sun, Mian Xiao, Min Fu, Qian Gao, Rui-Feng Li, Jing Wang, Sheng-Lin Li, Xi-Yuan Ge   +7 more
doaj   +2 more sources

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients [PDF]

Genes, 2021
Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes. The symptomatology involves nystagmus, type 2 diabetes mellitus (T2D), obesity, dilated
Brais Bea-Mascato, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, José M. Millán, Carmen Ayuso, Diana Valverde   +7 more
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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
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The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway. [PDF]

PLoS ONE, 2012
Alström syndrome (ALMS) is a progressive multi-systemic disorder characterized by cone-rod dystrophy, sensorineural hearing loss, childhood obesity, insulin resistance and cardiac, renal, and hepatic dysfunction. The gene responsible for Alström syndrome,
Gayle B Collin, Jan D Marshall, Benjamin L King, Gabriella Milan, Pietro Maffei, Daniel J Jagger, Jürgen K Naggert   +6 more
doaj   +1 more source

Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity

Frontiers in Molecular Biosciences, 2022
Background:ALMS1 is a ubiquitous gene associated with Alström syndrome (ALMS). The main symptoms of ALMS affect multiple organs and tissues, generating at last, multi-organic fibrosis in the lungs, kidneys and liver.
Brais Bea-Mascato, Brais Bea-Mascato, Elena Neira-Goyanes, Elena Neira-Goyanes, Antía Iglesias-Rodríguez, Antía Iglesias-Rodríguez, Diana Valverde, Diana Valverde   +7 more
doaj   +1 more source

Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes

Biology Direct, 2023
Background Alström syndrome (ALMS) is a rare autosomal recessive disease that is associated with mutations in ALMS1 gene. The main clinical manifestations of ALMS are retinal dystrophy, obesity, type 2 diabetes mellitus, dilated cardiomyopathy and multi ...
Brais Bea-Mascato, Eduardo Gómez-Castañeda, Yara E. Sánchez-Corrales, Sergi Castellano, Diana Valverde   +4 more
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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
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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