Results 51 to 60 of about 2,695 (146)

In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies [PDF]

, 2019
International audienceCilia are highly conserved and ubiquitously expressed organelles. Ciliary defects of genetic origins lead to ci-liopathies, in which retinal degeneration (RD) is one cardinal clinical feature. In order to efficiently find and design
Ajoy, Daniel, Brun, Agnès, Dollfus, Hélène, Haser, Elodie, Marion, Vincent, Messaddeq, Nadia, Obringer, Cathy, Roux, Michel,, Stoetzel, Corinne, Yu, Xiangxiang   +9 more
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

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants. [PDF]

, 2019
BACKGROUND: Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes.
Chen, Rui, Li, Yumei, Parker, Maria, Pennesi, Mark, Schlechter, Catie, Shurygina, Maria, Weleber, Richard, Yang, Paul   +7 more
core   +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

Disruption of Intraflagellar Transport in Adult Mice Leads to Obesity and Slow-Onset Cystic Kidney Disease [PDF]

, 2007
SummaryThe assembly of primary cilia is dependant on intraflagellar transport (IFT), which mediates the bidirectional movement of proteins between the base and tip of the cilium.
Croyle, Mandy J., Davenport, James R., Kesterson, Robert A., Nagy, Tim R., Roper, Venus C., van Groen, Thomas, Watts, Amanda J., Wyss, J. Michael, Yoder, Bradley K.   +8 more
core   +1 more source

Population Genomic Analysis of ALMS1 in Humans Reveals a Surprisingly Complex Evolutionary History [PDF]

Molecular Biology and Evolution, 2009
Mutations in the human gene ALMS1 result in Alström Syndrome, which presents with early childhood obesity and insulin resistance leading to Type 2 diabetes. Previous genomewide scans for selection in the HapMap data based on linkage disequilibrium and population structure suggest that ALMS1 was subject to recent positive selection.
Eric E. Schadt, Caitlin F. Connelly, Laura B. Scheinfeldt, Joshua M. Akey, Jennifer Madeoy, Shameek Biswas   +5 more
openaire   +3 more sources

MASH as an emerging cause of hepatocellular carcinoma: current knowledge and future perspectives

Molecular Oncology, Volume 19, Issue 2, Page 275-294, February 2025.
Metabolic dysfunction‐associated steatohepatitis is emerging as a leading cause of hepatocellular carcinoma in individuals whose lifestyle and dietary habits promote a positive energy balance. Here, we reviewed the role of free fatty acids in mediating lipotoxicity and its implications for organellar stress and genome alteration in hepatocytes ...
Michael Karin, Ju Youn Kim
wiley   +1 more source

Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan

PLOS ONE, 2023
Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats with a suspected genetic origin. Previous studies have identified five HCM-associated variants in three genes (Myosin binding protein C3:MYBPC3p.A31P, p.A74T, p.R820W; Myosin heavy chain 7:MYH7p.E1883K; Alstrom syndrome protein 1:ALMS1p.G3376R).
Noriyoshi Akiyama, Ryohei Suzuki, Takahiro Saito, Yunosuke Yuchi, Hisashi Ukawa, Yuki Matsumoto   +5 more
openaire   +3 more sources

Protection From Clinical Peripheral Sensory Neuropathy in Alström Syndrome in Contrast to Early-Onset Type 2 Diabetes [PDF]

, 2009
OBJECTIVE—Alström syndrome, with type 2 diabetes, and blindness could confer a high risk of foot ulceration. Clinical testing for neuropathy in Alström syndrome and matched young-onset type 2 diabetic subjects was therefore ...
Barnett, Sue, Bower, Lynne, Maffei, Pietro, Marshall, Jan D., Paisey, Richard B., Paisey, Rosamund M., Shield, Julian P.H., Thomson, Mary P.   +7 more
core   +2 more sources

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report [PDF]

, 2017
Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).
Allegrini, D., Autelitano, A., Damante, G., Maver, A., Montanari, C., Montesano, G., Paci, S., Pece, A., Penco, S., Peterlin, B., Rossetti, L. M.   +10 more
core   +2 more sources