Results 131 to 140 of about 13,996 (241)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang +16 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Drug‐resistant epilepsy (DRE) remains a clinical challenge, as therapies modifying disease trajectory are lacking. Increasing evidence implicates gut microbiota dysbiosis in epilepsy pathophysiology, with short‐chain fatty acids (SCFAs) emerging as key microbial metabolites with neuroprotective and anti‐inflammatory properties.
Akash A. Bera +16 more
wiley +1 more source
Angewandte Chemie International Edition, EarlyView.A non‐canonical C16 sesquiterpene synthase from Morganella morganii produces the unusual scaffold descartane. Its cyclisation mechanism was rationalised by isotopic labelling experiments and DFT calculations. Site‐directed mutagenesis altered enzyme function, resulting in alternative products, including voltairene, which requires a different ...
Kexin Yang +4 more
wiley +1 more source
HOW FREQUENT ARE CONSANGUINEOUS MARRIAGES?
Journal of the Dow University of Health Sciences, 2008 Objective: To determine the frequency of consanguineous marriages in parents and grand parents of alladmitted children in a pediatric unit Design: An observational study.
D. S. Akram, Fehmina Arif, Jabeen Fayyaz
doaj
Down syndrome and consanguinity.
Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences, 2013 Among the genetics disorders, Down syndrome (DS) is the major cause of mental retardation, congenital heart and intestinal disease. So far, no certain therapeutic method has been suggested for the treatment of this syndrome. The aim of the current survey was to investigate the frequency of parental consanguinity, maternal age in the patients with DS ...
Amir Akhavan Rezayat +6 more
openaire +2 more sources
Consanguinity and genetic diseases among the Bedouin population in the Negev
Journal of Community Genetics, 2019 Sarah Singer +3 more
semanticscholar +1 more source
Dosing PPARγ Activation With Light Using Fast Relaxing Photoswitches
Angewandte Chemie International Edition, EarlyView.To achieve spatiotemporal control over PPARγ activity, we designed the fast‐relaxing photoswitchable agonist 6 that selectively activates PPARγ in its light‐induced Z‐state and relaxes within seconds (t1/2 47 s) to the inactive E‐state. This unique profile allowed light‐dosed receptor activation in in vitro settings, enabling biological studies on ...
Loris Knümann +7 more
wiley +1 more source
Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak
Animal Research and One Health, EarlyView.Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan +15 more
wiley +1 more source