Results 101 to 110 of about 1,999 (178)

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

The Alstrom Syndrome Protein, ALMS1, Interacts with alpha-Actinin and Components of the Endosome Recycling Pathway [PDF]

, 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,
Naggert, JK, Collin, GB, Maffei, P, Jagger, DJ, Milan, G, Marshall, JD, King, BL   +6 more
core  

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.
Leena Patel (605144), Jonathan Barlow (5464787), Ben Davies (279533), Ashwin Roy (19564360), Davor Pavlovic (562158), Christopher O'Shea (11674981), Katja Gehmlich (19564372), Daniel Nieves (19564363), Richard P Steeds (9405508), Phalguni Rath (12961687), Caitlin Hall (12229786), Tarek Geberhiwot (19564369), Ashish Chikermane (11569585), Amar J Azad (19564366)   +13 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

Fat Aussie - a new Alstrom syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis [PDF]

, 2006
Mutations in the human ALMS1 gene are responsible for Alström syndrome, a disorder in which key metabolic and endocrinological features include childhood-onset obesity, metabolic syndrome, and diabetes, as well as infertility.
de Krester, DM, Kennedy, Claire, Silva, Diego, de Kretser, David M, Lee, NJ, Petrovsky, N, Goodnow, Christopher C, Kennedy, C, Goodnow, CC, Arsov, T, Kennedy, Claire L, Petrovsky, Nikolai, Goodnow, Christopher, Manji, Shehnaaz, Garcia De Vinuesa, Maria Carola, Sainsbury, Amanda, Manji, SSM, Arsov, Todor, Nelms, Keats, Lee, Nicola J, Manji, Shehnaaz S M, Silva, DG, Nelms, K, Vinuesa, CG, O'Bryan, MK, Liu, Conan, Liu, C, O'Bryan, Moira K, Vinuesa, Carola G   +28 more
core   +1 more source

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome

BMC Medical Genetics, 2017
Background Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic ...
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
doaj   +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

Novel ALMS1 mutations in Chinese patients with Alström syndrome.

Molecular vision, 2014
Alström syndrome (AS) is a rare monogenic autosomal recessively inherited disorder characterized by cone rod dystrophy and multiple organ dysfunction. Mutations in the Alström syndrome 1 (ALMS1) gene have been found to be causative for AS. The purpose of this study was to identify ALMS1 mutations and to assess the clinical features of Chinese patients ...
Xiaofang, Liang, Hui, Li, Huajin, Li, Fei, Xu, Fangtian, Dong, Ruifang, Sui   +5 more
openaire   +1 more source

Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice

Biochemical and Biophysical Research Communications, 2006
The biochemical differences between simple steatosis, a benign liver disease, and non-alcoholic steatohepatitis, which leads to cirrhosis, are unclear. Fat aussie is an obese mouse strain with a truncating mutation (foz) in the Alms1 gene. Chow-fed female foz/foz mice develop obesity, diabetes, and simple steatosis.
Arsov, Todor, Larter, Claire, Nolan, Christopher, Petrovsky, Nikolai, Goodnow, Christopher, Teoh, Narcissus, Yeh, Matthew, Farrell, Geoffrey   +7 more
openaire   +3 more sources

ALMS1 KO rat: a new model of metabolic syndrome with spontaneous hypertension

Abstract ALMS1 is a protein initially associated with Alström syndrome. This is a rare human disorder characterized by metabolic dysfunction, hypertension, obesity and hyperinsulinemia. In addition, ALMS1 gene was linked to hypertension status in a multipoint linkage population ...
Jaykumar, Ankita B., Monu, Sumit R., Mendez, Mariela, Rhaleb, Nour-Eddine, Ortiz, Pablo A.   +4 more
openaire   +2 more sources