755 results found
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

    Ute I Scholl et al.
    A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

    Andrew T Timberlake et al.
    Epistatic interactions of rare loss of function mutations in SMAD6 and a common variant modifier near BMP2 are the most common cause of midline craniosynostosis in humans.
    1. Cell Biology
    2. Developmental Biology

    TMEM95 is a sperm membrane protein essential for mammalian fertilization

    Ismael Lamas-Toranzo et al.
    TMEM95, a protein localized to the sperm acrosome cap, is essential for fertilization.
    1. Neuroscience

    Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers

    Özgür Genç et al.
    Forward genetic screens define a novel genetic landscape by which diverse, unrelated autism risk genes may converge to commonly affect the robustness of synaptic transmission.
    1. Cell Biology
    2. Developmental Biology

    Shear stimulation of FOXC1 and FOXC2 differentially regulates cytoskeletal activity during lymphatic valve maturation

    Pieter R Norden et al.
    Genetic and molecular analyses show that FOXC1 and FOXC2 play a role in controlling lymphatic valve maintenance as key mediators of mechanotransduction to control cytoskeletal organization and RhoA/ROCK signaling.
    1. Chromosomes and Gene Expression

    Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss

    Meritxell Espino Guarch et al.
    SLC7A8 a neutral amino acid transporter has a key role in the maintenance of hearing during aging and its absence causes early onset of hearing loss.
    1. Developmental Biology
    2. Genetics and Genomics

    Extensive intraspecies cryptic variation in an ancient embryonic gene regulatory network

    Yamila N Torres Cleuren et al.
    Quantitative genetic analyses reveal remarkably broad genetic variation underlies the requirement for two critical regulatory inputs into a core embryonic gene regulatory network within one animal species.
    1. Neuroscience

    A multicellular rosette-mediated collective dendrite extension

    Li Fan et al.
    Migrating skin carries the amphid rosette vertex anteriorly to extrude and position dendrites.
    1. Developmental Biology

    p53 activity is selectively licensed in the Drosophila stem cell compartment

    Annika Wylie et al.
    Ancient features of the p53 regulatory network are coupled to the stem cell compartment in normal and pathologic contexts.
    1. Developmental Biology
    2. Neuroscience

    A terminal selector prevents a Hox transcriptional switch to safeguard motor neuron identity throughout life

    Weidong Feng et al.
    A molecular mechanism that involves highly conserved transcription factors enables cholinergic motor neurons of the nematode Caenorhabditis elegans to become and remain functional.

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