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A recurrent loss-of-function variant in DRC1 causes non-syndromic severe asthenozoospermia with favorable intracytoplasmic sperm injection and pregnancy outcomes.
Andrology
January 2025
Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, University of Grenoble Alpes, Grenoble, France.
Background: Asthenozoospermia, characterized by reduced sperm motility, is a common cause of male infertility. Multiple morphological abnormalities of the sperm flagella (MMAF) represent a severe and genetically heterogeneous form of asthenozoospermia. Over 50 genes have been associated, but approximately half of MMAF cases remain unexplained.
View Article and Find Full Text PDFEffects of knockout on energy chain transportation and spermatogenesis: implications for male infertility.
Hum Reprod Open
April 2024
Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.
Study Question: Is the mutation causative for male infertility?
Summary Answer: Our collected data underline the complex and devastating effect of the single-gene mutation on the testicular molecular network, leading to male reproductive failure.
What Is Known Already: Recent data have revealed mutations in genes related to axonemal dynein arms as causative for morphology and motility abnormalities in spermatozoa of infertile males, including dysplasia of fibrous sheath (DFS) and multiple morphological abnormalities in the sperm flagella (MMAF). The nexin-dynein regulatory complex (N-DRC) coordinates the dynein arm activity and is built from the DRC1-DRC7 proteins.
Integrated analysis of single-cell sequencing and weighted co-expression network identifies a novel signature based on cellular senescence-related genes to predict prognosis in glioblastoma.
Environ Toxicol
February 2024
Department of Neurosurgery, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Background: Glioblastoma (GBM) is a highly aggressive cancer with heavy mortality rates and poor prognosis. Cellular senescence exerts a pivotal influence on the development and progression of various cancers. However, the underlying effect of cellular senescence on the outcomes of patients with GBM remains to be elucidated.
View Article and Find Full Text PDFRNA alternative splicing impacts the risk for alcohol use disorder.
Mol Psychiatry
July 2023
Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.
Article Synopsis
- Alcohol use disorder (AUD) is a genetic disorder linked to excessive alcohol consumption, and researchers are investigating the role of alternative RNA splicing as a risk factor for it.
- Using a Mendelian randomization approach and data from various genetics studies, the research identified 27 exon skipping events associated with AUD risk, with six validated in a separate study.
- The study highlights specific genes related to these splicing events, particularly ELOVL7, which may influence brain structure and contribute to AUD susceptibility, suggesting broader implications for understanding genetic disorders.
Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.
J Assist Reprod Genet
April 2023
Laboratory of Cell Biology, Department of Microscopy, ICBAS-School of Medicine and Biomedical Sciences, University of Porto, Rua Jorge Viterbo Ferreira, 228, 4050-313, Porto, Portugal.
Propose: We here present a female case with primary ciliary dyskinesia (PCD) and infertility. In this report, we also present the evaluation of the patient family, including her twin sister, also with PCD and infertility.
Methods: Confirmation of the PCD clinical diagnosis was performed through assessment of cilia motility, by high-speed video microscopy (HSVM), axoneme ultrastructure, by transmission electron microscopy (TEM), and genetic characterization, by whole-exome sequence (WES).
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