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Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder.
J Pediatr Genet
December 2024
Department of Obstetrics and Gynecology, Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
Chromosomal sub-microscopic imbalances, such as microdeletions and microduplications, are associated with multiple genetic disorders. Here, we illustrate microdeletion 3q13.33q21.
View Article and Find Full Text PDFADCY5 act as a putative tumor suppressor in glioblastoma: An integrated analysis.
Heliyon
September 2024
Department of Dermatology, Chongqing Traditional Chinese Medicine Hospital, Chongqing, 400011, China.
Article Synopsis
- This research focuses on the role of the ADCY5 gene in glioblastoma (GBM), examining its expression, epigenetic changes, and how these factors impact patient prognosis.
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Comprehensively prognostic and immunological analyses of GLP-1 signaling-related genes in pan-cancer and validation in colorectal cancer.
Front Pharmacol
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Guangdong Provincial Key Laboratory of Gastroenterology, Department of Gastroenterology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Glucagon-like peptide-1 (GLP-1) has crucial impact on glycemic control and weight loss physiologically. GLP-1 receptor agonists have been approved for treatment of diabetes and obesity. Emerging evidence suggests that GLP-1 receptor agonists exert anticancer effect in tumorigenesis and development.
View Article and Find Full Text PDFMutation of mpv17 results in loss of iridophores due to mitochondrial dysfunction in tilapia.
J Hered
July 2024
Integrative Science Center of Germplasm Creation in Western China (CHONGQING) Science City, Key Laboratory of Freshwater Fish Reproduction and Development (Ministry of Education), Key Laboratory of Aquatic Science of Chongqing, School of Life Sciences, Southwest University, Chongqing 400715, China.
Mpv17 (mitochondrial inner membrane protein MPV17) deficiency causes severe mitochondrial DNA depletion syndrome in mammals and loss of pigmentation of iridophores and a significant decrease of melanophores in zebrafish. The reasons for this are still unclear. In this study, we established an mpv17 homozygous mutant line in Nile tilapia.
View Article and Find Full Text PDFPersonalized transcriptome signatures in a cardiomyopathy stem cell biobank.
bioRxiv
May 2024
Department of Genetics, Stanford University School of Medicine.
Background: There is growing evidence that pathogenic mutations do not fully explain hypertrophic (HCM) or dilated (DCM) cardiomyopathy phenotypes. We hypothesized that if a patient's genetic background was influencing cardiomyopathy this should be detectable as signatures in gene expression. We built a cardiomyopathy biobank resource for interrogating personalized genotype phenotype relationships in human cell lines.
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