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| http://dx.doi.org/10.1056/NEJMc1716652 | DOI Listing |
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Elucidating loss-of-function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohort.
Br J Haematol
November 2024
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
HIF-2α, encoded by EPAS1, plays a dominant role in regulating erythropoietin (EPO) production, maintaining the dynamic balance of erythropoiesis. Gain-of-function mutations in EPAS1 cause erythrocytosis. However, anaemia caused by EPAS1 loss-of-function mutations has been confined to only one case report, and the underlying mechanism remains unclear.
View Article and Find Full Text PDFWhole Genome Analysis Reveals Evolutionary History and Introgression Events in Bale Monkeys.
Genes (Basel)
October 2024
Primate Genetics Laboratory, German Primate Center, Leibniz Institute for Primate Research, 37077 Göttingen, Germany.
Article Synopsis
- The Bale monkey is a threatened primate native to Ethiopia, living at high altitudes and primarily eating bamboo, with two distinct populations in continuous and fragmented bamboo forests.
- Research aimed to explore the evolutionary history and genetic adaptations of Bale monkeys, highlighting differences in gene flow between the two populations.
- Genome analysis revealed mutations linked to adaptations for high altitudes and bamboo diet, particularly in the continuous forest population.
Genomic insights into the genetic diversity, lateral gaits and high-altitude adaptation of Chakouyi (CKY) horses.
J Genet Genomics
November 2024
State Key Laboratory of Herbage Improvement and Grassland Agro-Ecosystems, Key Laboratory of Grassland Livestock Industry Innovation, Ministry of Agriculture and Rural Affairs, Engineering Research Center of Grassland Industry, Ministry of Education, College of Pastoral Agriculture Science and Technology, Lanzhou University, Lanzhou, Gansu 730020, China. Electronic address:
Article Synopsis
- Chakouyi (CKY) horses from the Qinghai‒Xizang Plateau are specifically noted for their unique gaits and adaptations to high altitudes, but the genetic reasons behind these traits are still not well understood.
- A study analyzed the genomes of CKY horses and other horse breeds, finding CKY horses genetically closer to other highland breeds and showing signs of reduced genetic diversity and lower inbreeding, likely due to selective pressures.
- The research identified a key mutation in the DMRT3 gene linked to CKY's lateral gaits and highlighted the importance of the EPAS1 and CAT genes for high-altitude resilience, suggesting that preserving genetic diversity is crucial for maintaining these unique traits in CKY horses
Putative mechanisms of primary resistance to EGFR-targeted therapies: A retrospective study.
Lung Cancer
November 2024
Department of Oncology, Yellow River Sanmenxia Affliated Hospital of Henan University of Science and Technology, Sanmenxia, PR China. Electronic address:
Backgrounds: Advanced lung adenocarcinoma (LUAD) patient with EGFR mutations often experience resistance to first-line epidermal growth factor tyrosine kinase inhibitors (EGFR-TKIs) therapy. Nonetheless, the mechanism and biomarkers of primary resistance remain unclear. Further exploration of independent prognostic factors will help clinicians identify patients who may not respond to EGFR-TKIs and select appropriate treatment strategies.
View Article and Find Full Text PDFAtractylenolide I inhibits angiogenesis and reverses sunitinib resistance in clear cell renal cell carcinoma through ATP6V0D2-mediated autophagic degradation of EPAS1/HIF2α.
Autophagy
November 2024
Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Clear cell renal cell carcinoma (ccRCC) is tightly associated with (von Hippel-Lindau tumor suppressor) mutation and dysregulated angiogenesis. Accumulating evidence indicates that antiangiogenic treatment abolishing tumor angiogenesis can achieve longer disease-free survival in patients with ccRCC. Atractylenolide I (ATL-I) is one of the main active compounds in root extract and exhibits various pharmacological effects, including anti-inflammatory and antitumor effects.
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