The glycoprotein (GP) V is a subunit of a platelet receptor for von Willebrand factor, the GPIb/IX/V complex. Recently, polymorphisms in the GPV gene, four involving amino acid changes and five silent, were identified. We developed an allele-specific restriction method to determine the gene frequencies of the non-synonymous substitutions in Japanese and Caucasians. The gene frequencies for 341Gly/Arg polymorphism were 0.94 for 341Gly and 0.06 for 341Arg, and 0.95 for 341Gly and 0.05 for 341Arg, in Japanese and Caucasians, respectively. We could not find rare variants for 114Asp/Tyr, 273Met/Ile or 397Leu/Arg. Flow cytometric analysis showed that the 341Arg variant is expressed normally on the platelet membranes, suggesting the possibility of the involvement of the 341Gly/Arg polymorphism as a platelet alloantigen.
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http://dx.doi.org/10.1034/j.1399-0039.1999.540311.x | DOI Listing |
BMC Plant Biol
January 2025
School of Engineering, Dali University, Dali, Yunnan Province, China.
The homeotic transformation of stamens into pistil-like structures (pistillody) causes cytoplasmic male sterility (CMS). This phenomenon is widely present in plants, and might be induced by intracellular communication (mitochondrial retrograde signaling), but its systemic regulating mechanism is still unclear. In this study, morphological observation showed that the stamens transformed into pistil-like structures, leading to flat and dehiscent pistils, and fruit set decrease in sua-CMS (MS K326, somatic fusion between Nicotiana.
View Article and Find Full Text PDFDig Liver Dis
January 2025
Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden; Department of Laboratory Medicine, Region Jönköping County, Jönköping, Sweden. Electronic address:
Background: Azathioprine (AZA) is part of the standard treatment for autoimmune hepatitis (AIH). The first step in the complex bioconversion of AZA to active metabolites is mediated by glutathione transferases (GSTs).
Aims: Elucidate the association between GSTM1 and GSTT1 copy number variation (CNV), genetic variation in GSTA2, GSTP1, and inosine-triphosphate-pyrophosphatase, and the response to AZA in AIH.
Methods Cell Biol
January 2025
State University of Minas Gerais, Department of Biomedical Sciences and Health, Passos, MG, Brazil. Electronic address:
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by a repeat of the cytosine-adenine-guanine trinucleotide (CAG) in the huntingtin gene (HTT). This results in the translation of a mutant huntingtin (mHTT) protein with an abnormally long polyglutamine (polyQ) repeat. The pathology of HD leads to neuronal cell loss, motor abnormalities, and dementia.
View Article and Find Full Text PDFClin Immunol
January 2025
Department of Pediatric Surgery, Children's Hospital of Fudan University, Shanghai Key Laboratory of Birth Defect, and Key Laboratory of Neonatal Disease, Ministry of Health, Shanghai 201102, China. Electronic address:
The imbalance between Tregs and proinflammatory Th17 cells in children with biliary atresia (BA) causes immune damage to cholangiocytes. Dimethyl fumarate (DMF), an immunomodulatory drug, regulates the Treg/Th17 balance in diseases like multiple sclerosis (MS). This study explores DMF's effect on Treg/Th17 balance in BA and its potential mechanism.
View Article and Find Full Text PDFHum Immunol
January 2025
The Second Affiliated Hospital of Guangxi Medical University, Department of Nephrology, Nanning, Guangxi 530021, China. Electronic address:
Background: Microscopic polyangiitis (MPA) is a severe multisystem autoimmune disease featured by small-vessel vasculitis with few or no immune complex, also has a significant genetic predisposition. Growing evidence has confirmed that STAT4 gene is tightly associated with multiple autoimmune diseases, but its contribution to MPA onset is still elusive.
Objective: The aim was to investigated the association between STAT4 gene polymorphisms (rs7572482, rs7574865 and rs12991409) and MPA susceptibility in a Guangxi population of China.
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