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http://dx.doi.org/10.1001/jamapediatrics.2023.4952 | DOI Listing |
Clin Epigenetics
December 2024
Hereditary Cancer Group, ONCOBELL Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Spain.
Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.
View Article and Find Full Text PDFGenome Med
December 2024
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD and MSA Rare Disease, Working Group, Paris, France.
Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.
View Article and Find Full Text PDFSci Data
December 2024
College of Life Science and Technology/Tarim Research Center of Rare Fishes, Tarim University, CN-0997, Alar 843300, Xinjiang Uygur Autonomous Region, Xinjiang, China.
Triplophysa bombifrons, a species of bony fish localized in China, has largely been understudied genetically, with limited data available beyond its mitochondrial genome. This study introduces a chromosome-level genome assembly for T. bombifrons, achieved through the integration of PacBio long-read sequencing and Hi-C chromatin interaction mapping.
View Article and Find Full Text PDFDev Cell
December 2024
State Key Laboratory of Common Mechanism Research for Major Diseases, Haihe Laboratory of Cell Ecosystem, Department of Cell Biology, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing 100005, China. Electronic address:
The neurotransmitter gamma-aminobutyric acid (GABA) has been thought to be involved in the development of some types of cancer. Yet, the de novo synthesis of GABA and how it functions in hepatocellular carcinoma (HCC) remain unclear. Here, we report that SLC6A12 acts as a transporter of GABA, and that aldehyde dehydrogenase 9 family member A1 (ALDH9A1), not glutamate decarboxylase 1 (GAD1), generates GABA in human HCC.
View Article and Find Full Text PDFInt J Comput Assist Radiol Surg
December 2024
Institute of Medical Science, University of Toronto, Toronto, ON, Canada.
Purpose: This study explores the use of deep generative models to create synthetic ultrasound images for the detection of hemarthrosis in hemophilia patients. Addressing the challenge of sparse datasets in rare disease diagnostics, the study aims to enhance AI model robustness and accuracy through the integration of domain knowledge into the synthetic image generation process.
Methods: The study employed two ultrasound datasets: a base dataset (Db) of knee recess distension images from non-hemophiliac patients and a target dataset (Dt) of hemarthrosis images from hemophiliac patients.
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