Results 81 to 90 of about 1,783 (168)

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

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

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

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

Alström syndrome presenting with life-threatening variceal bleeding in an adolescent: the youngest reported case in Türkiye

Gülhane Tıp Dergisi
Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by pathogenic variants in the ALMS1 gene on chromosome 2p13, with multisystem involvement including the retina, cochlea, heart, liver, and kidneys.
Birce İzgi Akçay, Selçuk Teke, Yasin Maruf Ergen, İsmihan Merve Tekin, Necati Balamtekin   +4 more
doaj   +1 more source

Cep164, a novel centriole appendage protein required for primary cilium formation [PDF]

, 2007
Primary cilia (PC) function as microtubule-based sensory antennae projecting from the surface of many eukaryotic cells. They play important roles in mechano- and chemosensory perception and their dysfunction is implicated in developmental disorders and ...
Graser, Susanne, Erich A. Nigg, Gassner, Oliver S., Gassner, O. S., Susanne Graser, Stierhof, Y. D., Lavoie, S. B., Stierhof, York-Dieter, Nigg, E. A., Sébastien B. Lavoie, Le Clech, M., Stefan Lamla, Graser, S., Nigg, Erich A., Lavoie, Sébastien B., York-Dieter Stierhof, Le Clech, Mikael, Oliver S. Gassner, Mikael Le Clech, Lamla, S., Lamla, Stefan   +20 more
core   +1 more source

Case Report: Identification of two novel ALMS1 variants in a patient with a ciliopathy resembling Alström syndrome

Frontiers in Genetics
BackgroundAlström syndrome (AS) is a rare autosomal recessive ciliopathy caused by biallelic pathogenic variants in the ALMS1 gene. The condition is characterized by a spectrum of clinical manifestations, including cone-rod dystrophy, sensorineural ...
Chun-Qiong Ran, Mei Yang, Lin Chen, Xun Liu   +3 more
doaj   +1 more source

Rare variants in NR2F2 cause congenital heart defects in humans [PDF]

, 2014
Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly ...
O'Kelly, Ita M., D’Alessandro, Lisa C.A., Mercer, Catherine L., Arndt, AK, Manickaraj, AK, Devriendt, K, Cosgrove, C., Bu'lock, Frances A, Mulder, B., Mital, Seema, Toka, Okan, Setchfield, Kerry, Lucassen, Anneke M., Mercer, C.L., Devriendt, Koenraad, Bentham, J., Arndt, Anne-Karin, Gewillig, M., O'Kelly, I.M., Siebert, Reiner, Breckpot, Jeroen, Hoff, K, Brook, J David, Fitzpatrick, David F, Mercer, CL, Hurles, Matthew E, Mercer, Catherine L, Schubert, Stephan, Salmon, Anthony P, Thienpont, Bernard, Manickaraj, A.K., Thornborough, C., Thienpont, B., FitzPatrick, David R., Hitz, Marc-Phillip, Lindsay, S, UK10K Consortium, Arndt, A.K., Gerety, Sebastian S, Bu'lock, FA, Setchfield, K, Mital, S., Siebert, R, Mulder, B, FitzPatrick, David F., O'Kelly, IM, Bu’Lock, Frances A., Watkins, H, Bentham, Jamie, Bhattacharya, Shoumo, Breckpot, J, Lucassen, AM, Swaminathan, G. Jawahar, Kramer, Hans-Heiner, Toka, O., Gewillig, M, Kramer, HH, Schubert, S., Salmon, AP, Al Turki, Saeed, Schubert, S, D'Alessandro, Lisa C. A., Brook, JD, Wilson, David I, Bhattacharya, S., Wilson, DI, Gerety, Sebastian S., Al Turki, S, Lindsay, Sarah, Devriendt, Koen, Breckpot, J., Hitz, MP, Watkins, H., Klaassen, Sabine, Salmon, Anthony P., Granados-Riveron, Javier, Harnack, C, Swaminathan, G Jawahar, Wilson, David I., Watkins, Hugh, Toka, O, Kramer, H.H., Abdul-Khaliq, H., O'Kelly, Ita M, Harnack, C., Wilson, D.I., Bu'lock, Frances A., Lucassen, A.M., Cosgrove, Catherine, Lucassen, Anneke M, Klaassen, S, Granados-Riveron, J, Low, J, Thornborough, Chris, D'Alessandro, LC, D'Alessandro, L.C.A., Low, J., Abdul-Khaliq, Hashim, Swaminathan, GJ, Gerety, S.S., Gewillig, Marc, Harnack, Christine, ?, ?, Al Turki, S., Lindsay, S., Hoff, K., Hurles, ME, D'Alessandro, Lisa C.A., Abdul-Khaliq, H, Mital, S, Klaassen, S., O’Kelly, Ita M., Granados-Riveron, J., Hurles, Matthew E., Salmon, A.P., Siebert, R., Fitzpatrick, D.F., Brook, J. David, Hitz, M.P., Fitzpatrick, DF, Thienpont, B, Mulder, Barbara, Swaminathan, G.J., Bu'Lock, F.A., Setchfield, K., Hurles, M.E., Gerety, SS, Cosgrove, C, Manickaraj, Ashok K, Devriendt, K., D'Alessandro, Lisa C A, Bhattacharya, S, Bentham, J, Manickaraj, Ashok K., Brook, J.D., Thornborough, C, Louw, Jacoba, Hoff, Kirstin, Low, Jacoba   +138 more
core   +1 more source

Infantile Dilated Cardiomyopathy Diagnosed as Alstrom Syndrome in Later Childhood: A Report of Two Siblings

Indian Pediatrics Case Reports
Background: Alstrom syndrome is a rare autosomal recessive multisystem disorder due to a mutation in the ALMS1 gene, characterized by various combinations of dilated cardiomyopathy (DCM), cone-rod dystrophy, hearing loss, childhood obesity, Type 2 ...
Vimalarani Arulselvam, Suad Al Amer, Neale Nicola Kalis   +2 more
doaj   +1 more source