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SUN5 interacts with nuclear membrane LaminB1 and cytoskeletal GTPase Septin12 mediating the sperm head-and-tail junction.
Mol Hum Reprod
June 2024
Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China.
Acephalic spermatozoa syndrome (ASS) is a severe teratospermia with decaudated, decapitated, and malformed sperm, resulting in male infertility. Nuclear envelope protein SUN5 localizes to the junction between the sperm head and tail. Mutations in the SUN5 gene have been identified most frequently (33-47%) in ASS cases, and its molecular mechanism of action is yet to be explored.
View Article and Find Full Text PDFExome sequencing in genuine empty follicle syndrome: Novel candidate genes.
Eur J Obstet Gynecol Reprod Biol
June 2024
Reproductive Medicine Department, Instituto Bernabeu, Alicante, Spain; Chair Community Medicine UMH and Health Reproductive, Miguel Hernández University, Alicante, Spain.
Article Synopsis
- The study focuses on Empty Follicle Syndrome (EFS), particularly genuine EFS (gEFS), a rare condition in IVF where no eggs are retrieved despite normal follicle development, and aims to find genetic variants associated with it.
- A prospective observational study was conducted with 1,689 egg donors, identifying only 7 cases (0.41%) of gEFS; whole exome sequencing (WES) revealed 6 pathogenic variants in 5 patients linked to new candidate genes involved in follicle development.
- The findings suggest that WES is a valuable tool for uncovering genetic causes of gEFS, enhancing understanding of its underlying mechanisms and expanding knowledge of mutations related to this condition
Rapid and high-purity differentiation of human medium spiny neurons reveals LMNB1 hypofunction and subtype necessity in modeling Huntington's disease.
Inflamm Regen
February 2024
Department of Geriatrics, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
Background: Different neural subtypes are selectively lost in diverse neurodegenerative diseases. Huntington's disease (HD) is an inherited neurodegenerative disease characterized by motor abnormalities that primarily affect the striatum. The Huntingtin (HTT) mutation involves an expanded CAG repeat, leading to insoluble polyQ, which renders GABA medium spiny neurons (MSN) more venerable to cell death.
View Article and Find Full Text PDFLamin B1: a novel biomarker in adult and pediatric adrenocortical carcinoma.
Endocr Relat Cancer
March 2024
Department of Andrology, Guangzhou First People's Hospital, Guangzhou Medical University, Guangzhou, China.
Adrenocortical carcinoma (ACC) is a malignancy with a poor prognosis and high mortality rate. A high tumor mutational burden (TMB) has been found to be associated with poor prognosis in ACC. Thus, exploring ACC biomarkers based on TMB holds significant importance for patient risk stratification.
View Article and Find Full Text PDFDisclosing Potential Therapeutic Targets Associated With Osimertinib Resistance in the Non-small Cell Lung Cancer Cell Line H1975.
Anticancer Res
December 2023
Department of Respiratory and Critical Care Medicine, General Hospital of Ningxia Medical University, Ningxia, P.R. China
Background/aim: Osimertinib, a third-generation epidermal growth factor receptor tyrosine kinase inhibitor, is a highly effective and valuable treatment option for advanced non-small cell lung cancer (NSCLC) patients with EGFR mutations, such as T790M. However, acquired resistance ultimately limits its clinical application. In this study, we aimed to identify potential targets for overcoming osimertinib resistance.
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