Results 101 to 110 of about 159,600 (311)
Formin isoforms are differentially expressed in the mouse embryo and are required for normal expression of fgf-4 and shh in the limb bud [PDF]
, 1995 Mice homozygous for the recessive limb deformity (ld) mutation display both limb and renal defects. The limb defects, oligodactyly and syndactyly, have been traced to improper differentiation of the apical ectodermal ridge (AER) and shortening of the ...
Chan, David C. +2 more
core
Chromosomal control of pig populations in France: 2002-2006 survey [PDF]
, 2007 The chromosomal control of pig populations has been widely developed in France over the last ten years. By December 31st, 2006, 13 765 individuals had been karyotyped in our laboratory, 62% of these since 2002.
Berland, Hélène-Marie +8 more
core +4 more sources
Movement Disorders Clinical Practice, EarlyView.Abstract Background Deep brain stimulation (DBS) is effective for Parkinson's disease (PD); however, its efficacy varies with genetic background, such as the GBA1 variant—the causative gene of Gaucher disease—associated with increased PD risk and cognitive decline after subthalamic nucleus (STN)‐DBS.
Hikaru Kamo +14 more
wiley +1 more source
Инновационная медицина Кубани, 2019 We present a clinical case of an ischemic stroke in a young man, 37 years in the setting of severe cardiac pathology (coronary heart disease, repeated myocardial infarctions with a cardiomyopathy and progressing chronic heart failure).
Yu. A. Bursa +2 more
doaj +2 more sources
MHC allele frequency distributions under parasite-driven selection: A simulation model
BMC Evolutionary Biology, 2010 Background The extreme polymorphism that is observed in major histocompatibility complex (MHC) genes, which code for proteins involved in recognition of non-self oligopeptides, is thought to result from a pressure exerted by parasites because parasite ...
Radwan Jacek +2 more
doaj +1 more source
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. [PDF]
, 2006 We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations ...
CRISCUOLO C +10 more
core
Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants
Movement Disorders, EarlyView.Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger +39 more
wiley +1 more source
Scientific Reports, 2020 Segregation distortion is a common phenomenon found in most genetic mapping studies and is an important resource to dissect the mechanism of action in gene loci that cause deviation.
Qiang Fu +6 more
doaj +1 more source
Detection and Characterization of the Heterozygote State for Lipoprotein Lipase Deficiency
Arteriosclerosis, 1989 Because there are no characteristic clinical or biochemical manifestations, the heterozygote state for lipoprotein lipase (LPL) deficiency has been difficult to detect. Measurements of postheparin plasma LPL activity and of LPL mass were performed In six
S. P. Babirak +3 more
semanticscholar +1 more source
Movement Disorders, EarlyView.Variants in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, cause Gaucher disease and confer an increased risk for parkinsonism. Strategies using small molecules can improve the function of glucocerebrosidase in lysosomes. A clear understanding of the mechanism‐of‐action of these compounds will facilitate development of GBA1‐modulating
Mark J. Henderson +5 more
wiley +1 more source