Results 91 to 100 of about 1,999 (178)

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, Volume 26, Issue 9, September 2025.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

A truncating mutation of Alms1 reduces the number of hypothalamic neuronal cilia in obese mice

Developmental Neurobiology, 2012
AbstractPrimary cilia are ubiquitous cellular antennae whose dysfunction collectively causes various disorders, including vision and hearing impairment, as well as renal, skeletal, and central nervous system anomalies. One ciliopathy, Alström syndrome, is closely related to Bardet–Biedl syndrome (BBS), sharing amongst other phenotypic features morbid ...
Heydet, Deborah, Chen, Lesley X., Larter, Claire, Inglis, Chrystal, Silverman, Michael A., Farrell, Geoffrey, Leroux, Michel R.   +6 more
openaire   +3 more sources

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

Advanced Science, Volume 12, Issue 29, August 7, 2025.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng, Xuegang Wang, Mingjun Zhong, Jia Geng, Wenjian Li, Kanglu Pei, Jing Wang, Lanchen Wang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yuan   +11 more
wiley   +1 more source

ALMS1-IT1: A Key Player in the Novel Disulfidptosis-Related LncRNA Prognostic Signature for Head and Neck Squamous Cell Carcinoma

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   +1 more source

Characterisation of infantile cardiomyopathy in Alström Syndrome using ALMS1 Knockout induced pluripotent stem cell derived cardiomyocyte model [PDF]

Alström syndrome (AS) is an inherited rare ciliopathy characterised by multi-organ dysfunction and premature cardiovascular disease. This may manifest as an infantile-onset dilated cardiomyopathy with significant associated mortality.
Geberhiwot, Tarek, Chikermane, Ashish, Steeds, Richard, Gehmlich, Katja; id_orcid, Roy, Ashwin, Rath, Phalguni, O'Shea, Christopher, Nieves, Daniel; id_orcid, Davies, Ben, Pavlovic, Davor, Hall, Caitlin, Azad, Amar, Barlow, Jonathan, Patel, Leena   +13 more
core   +1 more source

Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731 [PDF]

, 2010
Mutations in the human gene ALMS1 cause Alström syndrome, a rare progressive condition characterized by neurosensory degeneration and metabolic defects. ALMS1 protein localizes to the centrosome and has been implicated in the assembly and/or maintenance ...
Cosma Spalluto, Adigun, Fiona F., Purvis, Tracey L., Knorz, Victoria J., Hanley, Neil A., Victoria J. Knorz, Hanley, Neil, Neil A. Hanley, Wilson, David I., Thomas Hearn, Hearn, Thomas, Lessard, Mark, Mark Lessard, Gayle B. Collin, David I. Wilson, Fiona F. Adigun, Collin, Gayle B., Hanley, Neil A.; id_orcid, Tracey L. Purvis, Spalluto, Cosma   +19 more
core   +1 more source

Young‐onset type 2 diabetes—Epidemiology, pathophysiology, and management

Journal of Diabetes Investigation, Volume 16, Issue 7, Page 1157-1172, July 2025.
The burden of young‐onset type 2 diabetes is increasing globally, disproportionately affecting non‐White ethnic groups and low‐ and middle‐income countries. Young‐onset type 2 is more heterogeneous regarding the genetic and environmental contributions to its underlying pathophysiology, which poses challenges for glycemic management.
Andrea O.Y. Luk, Hongjiang Wu, Yingnan Fan, Baoqi Fan, Chun Kwan O, Juliana C.N. Chan   +5 more
wiley   +1 more source

Early genetic screening and cardiac intervention in patients with cardiomyopathies in a multidisciplinary clinic

ESC Heart Failure, Volume 12, Issue 3, Page 1942-1955, June 2025.
Abstract Aims Patients with cardiomyopathies are a heterogeneous group of patients who experience high morbidity and mortality. Early cardiac assessment and intervention with access to genetic counselling in a multidisciplinary Cardiomyopathy Clinic may improve outcomes and prevent progression to advanced heart failure.
Chandu Sadasivan, Luke R. Gagnon, Deepan Hazra, Kaiming Wang, Erik Youngson, Jissy Thomas, Anita Y.M. Chan, D. Ian Paterson, Finlay A. McAlister, Tara Dzwiniel, Wayne Tymchak, Susan Christian, Gavin Y. Oudit   +12 more
wiley   +1 more source

Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line

Stem Cell Research, 2020
To develop a disease model for the human Alström Syndrome (AS), we used the episomal reprogramming system and CRISPR/Cas9 technology to generate an induced pluripotent stem cell (iPSC) line with the compound heterozygous patient mutation (ALMS1 c.3902C > 
Xiaoli Ji, Qingyuan Tang, Chuanqing Tang, Ziyan Wu, Ling Ma, Xiaohong Guo, Guoqiang Cheng, Yuejun Chen, Tong Yang, Man Xiong, Wenhao Zhou   +10 more
doaj   +1 more source

Whole exome sequencing of ALMS1 gene identified a novel pathogenic homozygous mutation (c.3132_3133delAC/p.Gln1045ValfsTer2) in a turkish family [PDF]

, 2023
Backgroud: Alstrom syndrome (AS) is a rare autosomal recessive disorder caused by pathogenic mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) gene.
Eröz, Recep, Kılıçarslan, Orhan, Kılıçaslan, O.   +2 more
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