Results 91 to 100 of about 3,214 (198)

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

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

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

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy

Orphanet Journal of Rare Diseases, 2022
Objective Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized features of the syndrome ranging
Savas Dedeoglu, Elif Dede, Funda Oztunc, Asuman Gedikbasi, Gozde Yesil, Reyhan Dedeoglu   +5 more
doaj   +1 more source

Evaluation of Genetic Causes of Cardiomyopathy in Childhood [PDF]

, 2015
Cardiomyopathy frequently has a genetic basis. In adults, mutations in genes encoding components of the sarcomere, cytoskeleton, or desmosome are frequent genetic causes of cardiomyopathy.
Ware, Stephanie M.
core   +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

Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India

Eye and Vision, 2021
Background Leber congenital amaurosis (LCA), primarily characterized by retinal degeneration is the most severe form of inherited retinal dystrophy (IRD) responsible for congenital blindness.
Sriee Viswarubhiny, Rupa Anjanamurthy, Ayyasamy Vanniarajan, Devarajan Bharanidharan, Vijayalakshmi Perumalsamy, Periasamy Sundaresan   +5 more
doaj   +1 more source

The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease

Acta Ophthalmologica, Volume 103, Issue 3, Page 327-338, May 2025.
Abstract Purpose This study aimed to characterize clinical and genetic findings in a Swedish cohort with inherited retinal disease (IRD), identify predictors for achieving a molecular diagnosis and evaluate the effects of increased genetic testing over time.
Karl De Geer, Stefan Löfgren, Anna Lindstrand, Malin Kvarnung, Erik Björck   +4 more
wiley   +1 more source

ALMS1 deletion in rats causes hyperleptinemia, progressive obesity, and renal damage

The FASEB Journal, 2019
Genome‐wide association studies identified single nucleotide polymorphisms in the Alström syndrome 1 (ALMS1) gene linked to chronic kidney disease (CKD). ALMS1 has also been associated to obesity and insulin resistance. Inactivating mutations in the ALMS1 gene cause Alström syndrome in humans, characterized by early onset obesity, insulin resistance ...
Sumit Monu, Keyona King‐Medina, Ankita Jayakumar, Pablo Ortiz   +3 more
openaire   +1 more source

Disturbing Cholesterol/Sphingolipid Metabolism by Squalene Epoxidase Arises Crizotinib Hepatotoxicity

Advanced Science, Volume 12, Issue 14, April 10, 2025.
Crizotinib induces excessive accumulation of squalene epoxidase (SQLE) by blocking its autophagic degradation. This accumulation disrupts cholesterol and sphingolipid metabolism, leading to hepatic steatosis or hepatocyte apoptosis, respectively. Autophagy activators, such as metformin, or SQLE enzymatic inhibitors, like terbinafine, possesses the ...
Hao Yan, Xiangliang Huang, Yourong Zhou, Yuan Mu, Shaoyin Zhang, Yashi Cao, Wentong Wu, Zhifei Xu, Xueqin Chen, Xiaochen Zhang, Xiaohong Wang, Xiaochun Yang, Bo Yang, Qiaojun He, Peihua Luo   +14 more
wiley   +1 more source