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Pseudogenization of the Slc23a4 gene is necessary for the survival of Xdh-deficient mice.
Sci Rep
January 2025
Laboratory of Human Physiology and Pathology, Faculty of Pharmaceutical Sciences, Teikyo University, Tokyo, Japan.
In most patients with type 1 xanthinuria caused by mutations in the xanthine dehydrogenase gene (XDH), no clinical complications, except for urinary stones, are observed. In contrast, all Xdh(- / -) mice die due to renal failure before reaching adulthood at 8 weeks of age. Hypoxanthine or xanthine levels become excessive and thus toxic in Xdh(- / -) mice because enhancing the activity of hypoxanthine phosphoribosyl transferase (HPRT), which is an enzyme that uses hypoxanthine as a substrate, slightly increases the life span of these mice.
View Article and Find Full Text PDFComprehensive pan-cancer analysis reveals NTN1 as an immune infiltrate risk factor and its potential prognostic value in SKCM.
Sci Rep
January 2025
The First Affiliated Hospital of Zhengzhou University, No.1 Jianshe Road, Zhengzhou, 450052, Henan, China.
Netrin-1 (NTN1) is a laminin-related secreted protein involved in axon guidance and cell migration. Previous research has established a significant connection between NTN1 and nervous system development. In recent years, mounting evidence indicates that NTN1 also plays a crucial role in tumorigenesis and tumor progression.
View Article and Find Full Text PDFAnthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.
Cell Death Discov
January 2025
Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, 02129, USA.
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. A key feature of AEC syndrome is chronic skin erosion, for which no effective treatment currently exists. Our previous studies demonstrated that mutations associated with AEC syndrome lead to p63 protein misfolding and aggregation, exerting a dominant-negative effect.
View Article and Find Full Text PDF[Solid, endometrial-like and transitional growth patterns of ovarian high-grade serous carcinoma: a clinicopathological analysis of 25 cases].
Zhonghua Bing Li Xue Za Zhi
February 2025
Department of Pathology, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou 215002, China.
To investigate the clinicopathological characteristics of solid, endometrial-like and transitional (SET) cell growth subtype in high-grade serous ovarian carcinoma (HGSC). Clinical data of 25 cases of HGSC-SET were collected from January 2020 to March 2024 at the Affiliated Suzhou Hospital of Nanjing Medical University, and their histological features were analyzed. Immunohistochemical stains were used to analyze the expression of ER, PR, PAX8, WT-1, p16, p53 and Ki-67.
View Article and Find Full Text PDF[Gastrointestinal hamartomatous inverted hyperplastic polyps: a clinicopathological analysis of ten cases].
Zhonghua Bing Li Xue Za Zhi
February 2025
Department of Pathology, the First Affiliated Hospital of Air Force Medical University, Xi'an 710032, China.
To investigate the clinicopathological features, diagnosis, genetic alterations, and biological behaviors of hamartomatous inverted hyperplastic polyp (HIHP) in the gastrointestinal tract. The clinical, sonographic, endoscopic and pathologic data of 10 HIHP cases diagnosed at the First Affiliated Hospital of Air Force Medical University, Xi'an, China from January 2013 to March 2024 were collected. Their clinicopathological features and histological morphology were analyzed.
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