A polymorphism was identified in the coding region of the human C5a anaphylatoxin receptor gene leading to C to T transition at nucleotide position 450 (a silent substitution in the Ala150 codon, GCC to GCT). Its distribution was studied in a population of healthy volunteers from the Québec city region (prevalence of 2.8%) and among patients with end-stage renal failure who had previously undergone renal graft (prevalence 1.4%, not significantly different from that of the control group). This new marker provides a valuable tool to assess the risk for putative C5a-associated disorders with genetic determinism.
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http://dx.doi.org/10.1007/s002510050657 | DOI Listing |
Cells
December 2024
Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya 466-8550, Japan.
Alternative splicing is essential for the generation of various protein isoforms that are involved in cell differentiation and tissue development. In addition to internal coding exons, alternative splicing affects the exons with translation initiation codons; however, little is known about these exons. Here, we performed a systematic classification of human alternative exons using coding information.
View Article and Find Full Text PDFHealthcare (Basel)
December 2024
Xiangya School of Nursing, Central South University, Changsha 410083, China.
Background: Brucellosis, one of the most common zoonotic diseases globally, is a serious public health problem. The complex and diverse clinical manifestations pose numerous challenges for patients when coping with brucellosis. Scarce studies have been performed in China.
View Article and Find Full Text PDFBMC Genomics
January 2025
State Key Laboratory of Tree Genetics and Breeding, National Engineering Research Center of Tree Breeding and Ecological Restoration, Beijing Advanced Innovation Center for Tree Breeding by Molecular Design, College of Biological Sciences and Technology, Beijing Forestry University, Beijing, 100083, China.
Background: Populus tomentosa, known as Chinese white poplar, is indigenous and distributed across large areas of China, where it plays multiple important roles in forestry, agriculture, conservation, and urban horticulture. However, limited accessibility to the mitochondrial (mt) genome of P. tomentosa impedes phylogenetic and population genetic analyses and restricts functional gene research in Salicaceae family.
View Article and Find Full Text PDFMol Cell Endocrinol
January 2025
Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address:
In mammals, male sexual development is initiated by the expression of the Sex-determining-Region-Y (SRY) gene. SRY contains a highly conserved High Mobility Group (HMG) box essential for DNA binding and activity. Variants in SRY cause Differences of Sex Development (DSD), accounting for 10-15% of 46,XY gonadal dysgenesis cases.
View Article and Find Full Text PDFPLoS One
January 2025
AIDS and Cancer Virus Program, Frederick National Laboratory for Cancer Research, Frederick, Maryland, United States of America.
T cell immunotherapy success is dependent on effective levels of antigen receptor expressed at the surface of engineered cells. Efforts to optimize surface expression in T cell receptor (TCR)-based therapeutic approaches include optimization of cellular engineering methods and coding sequences, and reducing the likelihood of exogenous TCR α and β chains mispairing with the endogenous TCR chains. Approaches to promote correct human TCR chain pairing include constant region mutations to create an additional disulfide bond between the two chains, full murinization of the constant region of the TCR α and β sequences, and a minimal set of murine mutations to the TCR α and β constant regions.
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