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Mitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation.
Can J Cardiol
January 2025
The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences and National Institute of Biotechnology in the Negev, Ben Gurion University of the Negev, Be'er Sheva, Israel; Genetics Institute, Soroka University Medical Center, Be'er Sheva, Israel; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel. Electronic address:
Background: Mitral valve prolapse (MVP) is a common cardiac valvular anomaly that can be caused by mutations in genes of various biological pathways. Individuals of three generations of a kindred presented with apparently dominant heredity of isolated MVP.
Methods: Clinical evaluation and echocardiography for all complying family members (n=13).
Design, synthesis and evaluation of (E)-1-(4-(2-(1H-pyrazol-5-yl)vinyl)phenyl) derivatives as next generation selective RET inhibitors overcoming RET solvent front mutations (G810C/R).
Eur J Med Chem
January 2025
College of Chemistry and Materials Science, Zhejiang Normal University, No. 688 Yingbin Road, Jinhua, Zhejiang Province, 321004, China. Electronic address:
RET is a well-recognized drug target for cancer treatment. Despite the promising efficacy of selective second-generation RET inhibitors Selpercatinib and Pralsetinib, the clinical benefits have been compromised due to the quickly developed resistance to these drugs. RET G810 mutations at the solvent front site have been identified as the major on-target mutations contributing to resistance against Selpercatinib and Pralsetinib.
View Article and Find Full Text PDFTwo NADPH-dependent 2-ketogluconate reductases involved in 2-ketogluconate assimilation in sp. strain CHM43.
Appl Environ Microbiol
January 2025
Joint Degree Program of Kasetsart University and Yamaguchi University, Graduate School of Science and Technology for Innovation, Yamaguchi University, Yamaguchi, Japan.
Unlabelled: Incomplete oxidation of glucose by sp. strain CHM43 produces gluconic acid and then 2- or 5-ketogluconic acid. Although 2-keto-D-gluconate (2KG) is a valuable compound, it is sometimes consumed by itself via an unknown metabolic pathway.
View Article and Find Full Text PDFSynthesis and biological evaluation of MS-347a derivatives against plant pathogenic fungi based on a strategy of gene introduction.
J Pestic Sci
November 2024
Graduate School of Infection Control Sciences, Kitasato University.
Article Synopsis
- The group discovered MS-347a as a new potential fungicide from a mutant strain that has a specific gene inserted.
- They synthesized 11 derivatives to study their antifungal properties, finding that the aldehyde derivative was particularly effective.
- Some acyl derivatives retained antifungal activity even with structural changes, suggesting they might be useful for identifying biological targets.
An attenuated live strain of HY9901 mutant Δgr provides protection against Vibrio alginolyticus in pearl gentian grouper (♀Epinephelus fuscoguttatus × ♂Epinephelus lanceolatu).
Vet Immunol Immunopathol
January 2025
Fisheries College of Guangdong Ocean University, Guangdong Provincial Key Laboratory of Aquatic Animal Disease Control and Healthy Culture, Key Laboratory of Control for Diseases of Aquatic Economic Animals of Guangdong Higher Education Institute, Zhanjiang, China. Electronic address:
Vibrio alginolyticus is a serious aquaculture bacterial pathogen, which is widely distributed in the ocean and rivers, and cause vibriosis in aquaculture. Therefore, it is imperative to develop effective vaccine to prevent vibriosis. In this study, the efficacy of gr deletion strain (Δgr) of V.
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