Results 271 to 280 of about 1,768,588 (357)
Abstract Background Current advances in high‐throughput sequencing technology enable the precise identification of Y chromosome microdeletion and primary duplication in infertile couples, but the mechanism and clinical significance of these mutations in assisted reproductive techniques remain unclear.
Linlin Li+4 more
wiley +1 more source
Genome-wide associations with metabolic syndrome among UK Biobank participants reporting use of second-generation antipsychotics. [PDF]
Rouby NE+11 more
europepmc +1 more source
The use of deidentified organ donor testes for research
Abstract Our knowledge of testis development and function mainly comes from research using mammalian model organisms, primarily the mouse. However, there are integral differences between men and other mammalian species regarding cellular composition and expression profiles during fetal and post‐natal testis development and in the mature testis ...
Marina V. Pryzhkova+4 more
wiley +1 more source
Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants. [PDF]
Kim AY, Yehia L, Eng C.
europepmc +1 more source
Abstract Background Fetal exposure to endocrine‐disrupting chemicals (EDCs) has been associated with reduced male fecundity, but with few studies considering chemical mixtures. Objectives We assessed the association between fetal exposure to a mixture of EDCs and biomarkers of male fecundity in young adulthood.
Sidsel Dan Hull+11 more
wiley +1 more source
Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study. [PDF]
Sun H+21 more
europepmc +1 more source
Abstract Background WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early‐onset insulin‐dependent diabetes, optic atrophy, central diabetes insipidus and sensi‐neuronal deafness.
Julia Rohayem+6 more
wiley +1 more source
Epigenetic Consequences of In Utero PFAS Exposure: Implications for Development and Long-Term Health. [PDF]
Abdulkadir A+5 more
europepmc +1 more source
Abstract Background Myocyte enhancer factor 2 transcription factors regulate essential transcriptional programs in various cell types. The activity of myocyte enhancer factor 2 factors is modulated through interactions with cofactors, chromatin remodelers, and other regulatory proteins, which are dependent on cell context and physiological state.
Karine de Mattos+4 more
wiley +1 more source
The Inactive X Chromosome: A Genetic Driver of Female-Biased Rheumatic Autoimmune Disorders? [PDF]
Ferrayé L+4 more
europepmc +1 more source