Browse our latest Human Biology and Medicine articles

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    1. Human Biology and 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. Human Biology and Medicine
    2. Neuroscience

    Inhibition of PIP4Kγ ameliorates the pathological effects of mutant huntingtin protein

    Ismael Al-Ramahi et al.
    This work validates PIP4K gamma as pharmacological target to ameliorate Huntington's disease.
    1. Human Biology and Medicine
    2. Neuroscience

    Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia

    Vijayendran Chandran et al.
    Restoration of endogenous frataxin levels reverses neurologic and cardiac phenotypes associated with Friedreich's ataxia in adult mice even after significant motor dysfunction.
    1. Human Biology and Medicine

    Clearance of senescent decidual cells by uterine natural killer cells in cycling human endometrium

    Paul J Brighton et al.
    While acute senescence of decidualizing cells drives the inflammatory response underpinning uterine receptivity, subsequent clearance by activated natural killer cells transiently rejuvenates the cycling endometrium, enabling transition into a gestational tissue upon embryo implantation.
    1. Human Biology and Medicine
    2. Neuroscience

    Lifting the veil on the dynamics of neuronal activities evoked by transcranial magnetic stimulation

    Bingshuo Li et al.
    A cellular-level in vivo investigative method that provides unprecedented insights into the dynamics of neuronal activities evoked by transcranial magnetic stimulation.
    1. Genetics and Genomics
    2. Human Biology and Medicine

    Epigenetic profiling of growth plate chondrocytes sheds insight into regulatory genetic variation influencing height

    Michael Guo et al.
    Epigenetic profiling of femoral growth plate chondrocytes helps whittle-down GWAS height variants to fewer putative functional variants.
    1. Human Biology and Medicine
    2. Neuroscience

    Necdin shapes serotonergic development and SERT activity modulating breathing in a mouse model for Prader-Willi syndrome

    Valéry Matarazzo et al.
    Inhibition of serotonin transporter activity, by fluoxetine treatment, in early post-natal life induces persistent apnea in wild-type mice but restores normal breathing in Necdin-KO pups that reproduce breathing abnormalities observed in Prader-Willi syndrome.
    1. Cell Biology
    2. Human Biology and Medicine

    Capillary pericytes mediate coronary no-reflow after myocardial ischaemia

    Fergus M O'Farrell et al.
    Lack of reperfusion of cardiac capillaries, when an upstream artery is unblocked following heart attack, reflects contractile pericytes constricting capillaries and preventing blood flow, implying that cardiac pericytes are a therapeutic target for treating cardiac ischaemia.
    1. Developmental Biology and Stem Cells
    2. Human Biology and Medicine

    CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations

    Hironobu Okuno et al.
    Neural crest cells differentiated from patient-derived cells with mutations in the chromatin remodeler CHD7 show defective delamination, migration and motility in vitro, and defective migration in chick embryos.
    1. Cell Biology
    2. Human Biology and Medicine

    LRP1 integrates murine macrophage cholesterol homeostasis and inflammatory responses in atherosclerosis

    Xunde Xian et al.
    Tyrosine phosphorylation of the intracellular domain of LRP1 serves as a molecular switch to regulate cellular cholesterol homeostasis through nuclear hormone receptor-mediated regulation of the cellular cholesterol exporter ABCA1.