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Genetic Etiology in Pelvic Organ Prolapse: Role of Connective Tissue Homeostasis, Hormone Metabolism, and Oxidative Stress.
Genes (Basel)
December 2024
Department of Obstetrics and Gynaecology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China.
: Pelvic organ prolapse (POP) has become a common health problem among the aging population and affects an increasing number of elderly women worldwide. Studies within family and twin pairs provided strong evidence for the contribution of genetic factors to POP. Given the incomplete penetrance, polygenic traits, and small effect sizes of each variant in complex diseases, it is not always easy to evaluate the genetic susceptibility and molecular mechanisms involved in POP.
View Article and Find Full Text PDFThe Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity.
Cell Rep
January 2025
Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA. Electronic address:
Cytotoxic immune cells mediate precise attacks against diseased cells to maintain organismal health. Their operational unit of killing and host defense is lytic granules (LGs), which are specialized lysosomal-related organelles. Precision in cytotoxicity is achieved by converging the many LGs to the microtubule-organizing center (MTOC) and polarizing these to the diseased cell for secretion.
View Article and Find Full Text PDFGWAS analysis revealed genomic loci and candidate genes associated with the 100-seed weight in high-latitude-adapted soybean germplasm.
Theor Appl Genet
January 2025
Research Center for Life Sciences Computing, Zhejiang Lab, Hangzhou, 310012, China.
In the present study, we identified 22 significant SNPs, eight stable QTLs and 17 potential candidate genes associated with 100-seed weight in soybean. Soybean is an economically important crop that is rich in seed oil and protein. The 100-seed weight (HSW) is a crucial yield contributing trait.
View Article and Find Full Text PDFGenetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis.
Taiwan J Obstet Gynecol
January 2025
Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan; Department of Medical Sciences, National Tsing Hua University, Hsinchu, Taiwan. Electronic address:
Objective: Ichthyosis are complex skin diseases, characterized by hyperkeratosis with various degrees of thickening, desquamation, and erythema. The prenatal diagnosis of ichthyosis is challenged due to the clinical and genetic heterogeneity and the late-onset of fetal features on ultrasound scan. Here, we reported two fetuses with Harlequin ichthyosis (HI), a severe subtype of autosomal recessive congenital ichthyosis (ARCI), who were diagnosed prenatally by images and genetic investigations.
View Article and Find Full Text PDFPreimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths.
Orphanet J Rare Dis
January 2025
Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Purpose: Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology strategy to prevent disease-causing gene mutations from being transmitted to offspring. The aim of this study was to report the use of PGT-M strategy based on karyomapping in four families to avoid the birth of SCID children.
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