Results 61 to 70 of about 2,695 (146)
Rodent model of metabolic dysfunction‐associated fatty liver disease: a systematic review
Journal of Gastroenterology and Hepatology, Volume 40, Issue 1, Page 48-66, January 2025.Abstract Although significant progress has been made in developing preclinical models for metabolic dysfunction‐associated steatotic liver disease (MASLD), few have encapsulated the essential biological and clinical outcome elements reflective of the human condition.
Xiao‐Shan Cui +9 more
wiley +1 more source
Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome [PDF]
Clinical Genetics, 2013 Clin Genet 2013; 83:96-98.
TaÅŸdemir, S +7 more
openaire +4 more sources
Precision medicine to identify, prevent, and treat pediatric obesity
Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, Volume 44, Issue 12, Page 939-947, December 2024.Abstract Pediatric obesity is a growing health concern that has many secondary adverse health implications. Personalized medicine is a tool that can be used to optimize diagnosis and treatments of many diseases. In this review, we will focus on three areas related to the genetics of pediatric obesity: (i) genetic causes predisposing to pediatric ...
Emma M. Tillman, Selsbiel Mertami
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 ...
Keyona N. King‐Medina +3 more
openaire +1 more source
Triple Vectors Expand AAV Transfer Capacity in the Retina. [PDF]
, 2017 Retinal gene transfer with adeno-associated viral (AAV) vectors holds great promise for the treatment of inherited retinal degenerations (IRDs). One limit of AAV is its transfer capacity of about 5 kb, which can be expanded to about 9 kb, using dual AAV ...
Auricchio, Alberto +10 more
core +3 more sources
Pediatric Obesity, Volume 19, Issue 12, December 2024.Summary Background The diagnosis of monogenic obesity is burdened by frequent variants of uncertain significance (VUS). We describe our real‐life approach of variant reassessment over time and we assess whether inconclusive variants are decreasing in monogenic obesity.
Anita Morandi +12 more
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 +6 more
openaire +4 more sources
A multistep bioinformatic approach detects putative regulatory elements in gene promoters [PDF]
, 2005 BACKGROUND: Searching for approximate patterns in large promoter sequences frequently produces an exceedingly high numbers of results. Our aim was to exploit biological knowledge for definition of a sheltered search space and of appropriate search ...
Bisognin, Andrea +4 more
core +3 more sources
Molecular autopsy in Chinese sudden cardiac death in the young
American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.Abstract Inherited cardiovascular conditions are significant causes of sudden cardiac death in the young (SCDY), making their investigation using molecular autopsy and prevention a public health priority. However, the molecular autopsy data in Chinese population is lacking.
Sit‐Yee Kwok +7 more
wiley +1 more source