10 results found
    1. Evolutionary Biology
    2. Genetics and Genomics

    A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans

    Pille Hallast et al.
    In addition to its academic merits, characterizing the genetic determinants of male (in)fertility and identifying clinically actionable genetic variants can lead to improved diagnosis or even treatment of such conditions.
    1. Medicine

    Obesity and diabetes as comorbidities for COVID-19: Underlying mechanisms and the role of viral–bacterial interactions

    Ilja L Kruglikov et al.
    Dysfunctionaladipose tissue puts obese and type 2 diabetic patients at higher risk.
    1. Cell Biology
    2. Developmental Biology

    GIV/Girdin, a non-receptor modulator for Gαi/s, regulates spatiotemporal signaling during sperm capacitation and is required for male fertility

    Sequoyah Reynoso et al.
    Spermatozoa require GIV for specialized compartmentalized signaling to support efficient capacitation while inhibiting premature acrosome reaction.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Unified single-cell analysis of testis gene regulation and pathology in five mouse strains

    Min Jung et al.
    A statistical method for summarizing single-cell gene expression data identifies normal and disease-specific transcriptional programs from an atlas of 57,600 cells.
    1. Medicine

    A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

    Baptiste Fouquet et al.
    Bilallelic mutations of FANCM, a DNA-damage response gene whose heterozygous mutations predispose to breast cancer, are involved in a familial case of Primary Ovarian Insufficiency establishing a link between infertility and cancer.
    1. Cell Biology

    Bardet–Biedl syndrome 3 protein promotes ciliary exit of the signaling protein phospholipase D via the BBSome

    Yan-Xia Liu et al.
    Bardet–Biedl syndrome 3 (BBS3) protein promotes phospholipase D to load onto the BBSome at the ciliary tip for moving out of the cilium via intraflagellar transport.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Evolutionary transcriptomics implicates HAND2 in the origins of implantation and regulation of gestation length

    Mirna Marinić et al.
    The transcription factor HAND2 evolved uterine expression during the origins of pregnancy and may be important for maternal-fetal immune signaling and parturition.
    1. Cell Biology
    2. Chromosomes and Gene Expression

    Sister kinetochore splitting and precocious disintegration of bivalents could explain the maternal age effect

    Agata P Zielinska et al.
    Multiple age-related changes in chromosome architecture could explain why human oocyte aneuploidy increases with advanced maternal age.
    1. Developmental Biology

    Sox9 and Sox8 protect the adult testis from male-to-female genetic reprogramming and complete degeneration

    Francisco J Barrionuevo et al.
    The vertebrate testis-determining gene, Sox9, also controls adult testis maintenance in mammals, acting redundantly with its paralog Sox8.
    1. Medicine
    2. Stem Cells and Regenerative Medicine

    Adult stem cell-derived complete lung organoid models emulate lung disease in COVID-19

    Courtney Tindle et al.
    An integrated stem cell-based disease modeling and computational approach demonstrates how proximal airway epithelium is critical for SARS-CoV-2 infectivity and distal alveolar cells are critical for simulating the host responses.

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