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Dual PTCH2 mutation [Ser391*, Leu104Pro]: unveiling a potential new genetic susceptibility factor for glioma development.
Invest New Drugs
January 2025
Department of Neurology, The First Affiliated Hospital of Xinxiang Medical University, Xinxiang, 453100, Henan, China.
Gliomas are a heterogeneous type of central nervous system tumor. The etiology of glioma formation remains elusive, with approximately 5% of gliomas being familial, underscoring the significance of understanding genetic susceptibility in glioma development. In this study, a dual germline PTCH2 mutation [Ser391*, Leu104Pro] was identified in a family with a history of glioma, and sequencing data from WES/SimcereDx Neuro-Onco 360 including 910 Chinese patients with glioma and 1666 patients with solid tumors were analyzed.
View Article and Find Full Text PDFCorrelation of vitamin D with glucose-lipid metabolism and nutritional status in patients with newly diagnosed type 2 diabetes mellitus.
Pak J Pharm Sci
January 2025
School of Pharmacy, Shaoyang University, Shaoyang, Hunan, China.
Type 2 diabetes mellitus (T2DM) is one of the most common chronic diseases worldwide, with no cure at present. Vitamin D (VD) is a fat-soluble vitamin, which has been recognized as one of the major influencing factors of T2DM. However, the specific relationship between T2DM and VD remains elusive.
View Article and Find Full Text PDFDNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Am J Hum Genet
January 2025
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany. Electronic address:
BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.
View Article and Find Full Text PDFNovel archaeal ribosome dimerization factor facilitating unique 30S-30S dimerization.
Nucleic Acids Res
January 2025
Central European Institute of Technology, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic.
Protein synthesis (translation) consumes a substantial proportion of cellular resources, prompting specialized mechanisms to reduce translation under adverse conditions. Ribosome inactivation often involves ribosome-interacting proteins. In both bacteria and eukaryotes, various ribosome-interacting proteins facilitate ribosome dimerization or hibernation, and/or prevent ribosomal subunits from associating, enabling the organisms to adapt to stress.
View Article and Find Full Text PDFClinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype-Genotype Correlation.
Diagnostics (Basel)
January 2025
Departamento de Medicina Genómica, Instituto Nacional de Rehabilitación, Calzada México-Xochimilco 289, Col. Arenal de Guadalupe, Ciudad de México 14389, Mexico.
Background/objectives: X-linked hypophosphataemic rickets (XLH) represents the most frequent type of rickets from genetic origin, it is caused by mutations on the gene. The main clinical manifestations are short stature and bone deformities. Phenotype variation is observed at the intrafamily and interfamily level.
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