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| http://dx.doi.org/10.14309/crj.0000000000000456 | DOI Listing |
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Clinicopathologic and genomic characteristics of biliary tract carcinomas with TERT promoter mutations among East Asian population.
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December 2024
Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea; Center for Companion Diagnostics, Precision Medicine Research Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea. Electronic address:
Telomerase reverse transcriptase gene promoter (TERT) mutations are biomarkers that predict survival and responses to immune checkpoint inhibitors in various malignancies. However, their prevalence and clinicopathologic characteristics in biliary tract carcinomas are largely unknown. We performed a comprehensive genomic profiling of formalin-fixed paraffin-embedded tumor tissue from 485 carcinomas, including intrahepatic (n = 220), perihilar (n = 54), distal biliary tract (n = 110), and gallbladder (n = 101) cancers, using next-generation sequencing.
View Article and Find Full Text PDFTrue Left-Sided Gallbladder: A Case Report of Rare Incidental Findings During Cholecystectomy in a Jordanian Patient.
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General Surgery, Jordanian Royal Medical Services, Amman, JOR.
The biliary system exhibits significant anatomical variations, which pose challenges for most surgeons during cholecystectomy. Among these variations, a true left-sided gallbladder (LSG) is an uncommon finding. In such cases, the gallbladder is located to the left of the round ligament.
View Article and Find Full Text PDFIdentification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome.
Psychiatr Genet
February 2025
Department of Obstetrics.
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant genetic disease characterized by growth retardation, psychomotor retardation, and distinctive facial features. It is primarily caused by mutations in CREBBP or EP300. In this study, we aimed to describe the clinical manifestations and genetic analyses of two cases with RSTS.
View Article and Find Full Text PDFAn animal model recapitulates human hepatic diseases associated with mutations.
Proc Natl Acad Sci U S A
January 2025
Key Laboratory of Freshwater Fish Reproduction and Development, Ministry of Education, State Key Laboratory Breeding Base of Eco-Environments and Bio-Resources of the Three Gorges Reservoir Region, School of Life Sciences, Southwest University, Chongqing 400715, China.
Heterozygotic mutations are responsible for various congenital diseases in the heart, pancreas, liver, and other organs in humans. However, there is lack of an animal that can comprehensively model these diseases since GATA6 is essential for early embryogenesis. Here, we report the establishment of a knockout zebrafish which recapitulates most of the symptoms in patients with mutations, including cardiac outflow tract defects, pancreatic hypoplasia/agenesis, gallbladder agenesis, and various liver diseases.
View Article and Find Full Text PDFIdentification of Gallbladder-Specific Distal Regulatory Sequence of Murine Sox17.
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January 2025
Department of Experimental Animal Model for Human Disease, Institute of Science Tokyo, Tokyo, Japan.
Sox17 is a key transcriptional regulator of endoderm formation and function in the gallbladder, blood vessels and reproductive organs. Although multiple transcript variants of Sox17 have been suggested, the precise mechanisms underlying their time- and tissue-specific expression remain unclear. In this study, we discovered two putative regulatory sequences (R1 and R2) adjacent to different transcription start sites of mouse Sox17 exon 1 and generated deletion mice for these regions (Sox17).
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