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162 results found
    1. Immunology and Inflammation
    2. Microbiology and Infectious Disease

    IRF4 haploinsufficiency in a family with Whipple’s disease

    Antoine Guérin et al.
    Autosomal dominant IRF4 deficiency is the first genetic etiology of Whipple's disease, a very rare chronic condition following a rather common infection by Tropheryma whipplei.
    1. Chromosomes and Gene Expression
    2. Stem Cells and Regenerative Medicine

    Functional evidence implicating chromosome 7q22 haploinsufficiency in myelodysplastic syndrome pathogenesis

    Jasmine C Wong et al.
    Immature hematopoietic cells from mice with a large segmental deletion found in human myeloid malignancies exhibit cardinal features of myelodysplastic syndrome.
    1. Chromosomes and Gene Expression
    2. Cancer Biology

    MYBL2 is a sub-haploinsufficient tumor suppressor gene in myeloid malignancy

    Stefan Heinrichs et al.
    Reduced expression of MYBL2 contributes to malignancies of the blood by permitting uncontrolled expansion of blood cell progenitors, implying a tumor suppressor function for this gene.
    1. Neuroscience

    Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy

    Wu Chen et al.
    Two genetically distinct Stxbp1 haploinsufficiency mouse models exhibit seizures and impairments in cognitive, psychiatric, and motor functions, representing robust preclinical models of STXBP1 encephalopathy with both construct and face validity.
    1. Neuroscience

    Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

    Cemre Celen et al.
    Mirroring human patients with ARID1B mutations, Arid1b haploinsufficient mice exhibited numerous neuropsychiatric defects and revealed IGF1 deficiency related growth impairment that could be ameliorated with growth hormone supplementation.
    1. Biochemistry and Chemical Biology
    2. Developmental Biology

    Haploinsufficiency of Trp53 dramatically extends the lifespan of Sirt6-deficient mice

    Shrestha Ghosh et al.
    The dramatic extension of lifespan in Sirt6-deficient mice by Trp53 haploinsufficiency suggests that SIRT6 has distinct biological function from SIRT1 in regulating p53 activity and preventing cells from senescence/apoptosis.
    1. Cancer Biology

    TINF2 is a haploinsufficient tumor suppressor that limits telomere length

    Isabelle Schmutz et al.
    Mutations in TIN2, a component of shelterin that keeps telomere length in check, lead to cancer-predisposition by disabling the telomere tumor suppressor pathway.
    1. Developmental Biology

    Enhancer architecture sensitizes cell specific responses to Notch gene dose via a bind and discard mechanism

    Yi Kuang et al.
    DNA binding site architecture promotes Notch transcription complex degradation to sensitize developmental processes requiring long-duration signaling.
    1. Biochemistry and Chemical Biology
    2. Neuroscience

    A sex difference in the response of the rodent postsynaptic density to synGAP haploinsufficiency

    Tara L Mastro et al.
    Deletion of one copy of the postsynaptic density protein synGAP in rodents causes an increase in the level of the AMPA receptor auxiliary protein TARP in PSDs only in females.
    1. Biochemistry and Chemical Biology
    2. Neuroscience

    A model for regulation by SynGAP-α1 of binding of synaptic proteins to PDZ-domain 'Slots' in the postsynaptic density

    Ward G Walkup IV et al.
    The α1 isoform of synGAP restricts the binding of AMPA-receptors and other regulatory proteins to PSD-95, and thus regulates synaptic strength.

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