Mutations in the X-linked phosphatidylinositol glycan, class A gene (Pig-a) lead to loss of glycosylphosphatidylinositol (GPI) anchors and GPI-anchored proteins from the surface of erythrocytes and other mammalian cells. The Pig-a gene mutation assay quantifies in vivo gene mutation by immunofluorescent labeling and flow cytometry to detect the loss of GPI-anchored proteins on peripheral blood erythrocytes. As part of the regulatory acceptance of the assay, a public database has been created that provides detailed information on Pig-a gene mutation assays conducted in rats and mice. A searchable version of the database is available through a website designed and hosted by the University of Maryland School of Pharmacy. Currently, the database contains only mouse and rat data, but it is anticipated that it will expand to include data from other species, including humans. A major purpose in developing the database was to aid in the preparation of a Retrospective Performance Analysis and Detailed Review Paper required for Organisation for Economic Co-operation and Development Test Guideline acceptance. We anticipate, however, that it also will be useful for accessing and comparing Pig-a data to data from other assays and for conducting quantitative assessments of Pig-a gene mutation responses. Environ. Mol. Mutagen., 60:759-762, 2019. © 2019 Wiley Periodicals, Inc.
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Andrology
January 2025
Department of Digestion, Metabolism and Reproduction, Institute of Reproductive and Developmental Biology, Hammersmith Campus, Imperial College London, London, UK.
Luteinizing hormone (LH), along with its agonist choriongonadotropin (hCG) in humans, is the key hormone responsible for the tropic regulation of the gonadal function. LH and hCG act through their cognate receptor, the luteinizing hormone/choriongonadotropin receptor (LHCGR; more appropriately LHR in rodents lacking CG), located in the testis in Leydig cells and in the ovary in theca, luteal, and luteinizing granulosa cells. Low levels in LHCGR are also expressed in numerous extragonadal sites.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
January 2025
Department of Pediatric Endocrinology, Antalya Training and Research Hospital, University of Health Sciences, Antalya, Türkiye.
Objectives: Neonatal severe hyperparathyroidism (NSHPT) is a rare condition characterized by inactivating mutations in the calcium-sensing receptor () gene, leading to significant hypercalcemia and related complications.
Case Presentation: We present a case of a six-day-old male infant with weakness, jaundice, and hypotonia, later diagnosed with NSHPT due to a known homozygous mutation (c.242T>A; p.
Hemasphere
January 2025
Department of Internal Medicine, Hematology and Oncology, and Institute of Medical Genetics and Genomics, University Hospital Brno and Medical Faculty Masaryk University Brno Czech Republic.
In chronic lymphocytic leukemia, the reliability of next-generation sequencing (NGS) to detect variants ≤10% allelic frequency (low-VAF) is debated. We tested the ability to detect 23 such variants in 41 different laboratories using their NGS method of choice. The sensitivity was 85.
View Article and Find Full Text PDFFront Plant Sci
January 2025
Department of Plant Breeding, Swedish University of Agricultural Sciences, Lomma, Sweden.
Rapeseed ( L.) is known for its high-quality seed oil and protein content. However, its use in animal feed is restricted due to antinutritional factors present in the seedcake, with sinapine being one of the main compounds that reduces palatability.
View Article and Find Full Text PDFIran J Med Sci
December 2024
Department of Biology, Faculty of Science and Technology, Universitas Airlangga, Surabaya, Indonesia.
Background: In approximately 80% of colorectal cancer cases, mutations in the adenomatous polyposis coli () gene disrupt the Wingless-related integration site (Wnt)/β-catenin signaling pathway, a crucial factor in carcinogenesis. This disruption may result in consequences such as aberrant spindle segregation and mitotic catastrophe. This study aimed to analyze the effectiveness of the ethanolic extract of red okra () pods (EEROP) in inducing apoptosis in colorectal cancer cells (SW480) by inhibiting the Wnt/β-catenin signaling pathway.
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