754 results found
    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

    A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

    Natalia Felipe-Medina et al.
    Genetic and biochemical analysis reveal a variant in HSF2BP causing POI and C19ORF57/BRME1 as an interactor and stabilizer of HSF2BP by forming a complex with BRCA2, RAD51, RPA and PALB2.
    1. Medicine
    2. Immunology and Inflammation

    Identification of novel, clinically correlated autoantigens in the monogenic autoimmune syndrome APS1 by proteome-wide PhIP-Seq

    Sara E Vazquez et al.
    Humans with mutations in the AIRE gene exhibit common autoantibodies targeting ovarian and intestinal antigens, including intestinal dysfunction-associated antibodies to enteroendocrine transcription factor RFX6.
    1. Cancer Biology

    Mitochondrial genetic diversity, selection and recombination in a canine transmissible cancer

    Andrea Strakova et al.
    Genetics of a canine transmissible tumour show how the world’s oldest cancer “metastasised” through the global dog population – and captured, maintained and rearranged its mitochondrial DNA along the way.
    1. Biochemistry and Chemical Biology
    2. Genetics and Genomics

    Therapeutic genetic variation revealed in diverse Hsp104 homologs

    Zachary M March et al.
    Exploring natural Hsp104 variation reveals unexpected tuning of a passive activity that inhibits aggregation of specific substrates to selectively counter TDP-43 or alpha-synuclein proteotoxicity connected to neurodegenerative disease.
    1. Cancer Biology
    2. Medicine

    Mutation analysis links angioimmunoblastic T-cell lymphoma to clonal hematopoiesis and smoking

    Shuhua Cheng et al.
    Comparative analysis establishes genetic links among angioimmunoblastic T-cell lymphoma (AITL), clonal hematopoiesis, and concomitant hematologic malignancies, and provides insights into the cell of origin, etiology, and biomarker discovery for AITL.
    1. Cell Biology
    2. Developmental Biology

    Organ sculpting by patterned extracellular matrix stiffness

    Justin Crest et al.
    Direct measurement of finely patterned mechanical properties in a native basement membrane demonstrate how force asymmetries arising from this extracellular matrix, rather than from cells, can precisely sculpt a tissue.
    1. Stem Cells and Regenerative Medicine

    Ecdysone steroid hormone remote controls intestinal stem cell fate decisions via the PPARγ-homolog Eip75B in Drosophila

    Lisa Zipper et al.
    A systemic hormone controls progenitor fate decisions independent of local fate determining pathways in the adult intestinal stem cell niche of Drosophila melanogaster..
    1. Neuroscience

    Dopaminergic and opioidergic regulation during anticipation and consumption of social and nonsocial rewards

    Sebastian Korb et al.
    Administration of dopamine and opioid receptor antagonists resulted in reduced reward anticipation (effort and increased negative facial reactions), but only administration of opioid antagonists resulted in reduced liking (facial reactions).
    1. Genetics and Genomics
    2. Medicine

    Effects of lifelong testosterone exposure on health and disease using Mendelian randomization

    Pedrum Mohammadi-Shemirani et al.
    Long-term increased testosterone improved body composition and bone density, but lowered HDL and raised risks of hypertension, androgenic alopecia, prostate cancer, and spinal stenosis in males.

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