PMC:4157147 / 20531-21454 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4157147","sourcedb":"PMC","sourceid":"4157147","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4157147","text":"Autosomal-Recessive Mutations in GRHL2 Lead to Reduced Gene Expression and Protein Levels\n(A and B) Sanger sequencing confirmed the presence of different homozygous missense mutations in GRHL2 in affected subjects from both pedigrees.\n(C) Schematic representation of the functional domains of GRHL2. The recessive missense mutations we identified (top) are located within the DNA binding domain; the previously reported heterozygous splice-site or deletion mutations that cause autosomal-dominant deafness are also illustrated (bottom).\n(D) qPCR for GRHL2 expression in cultured keratinocytes showed reduced expression in two affected subjects from pedigree ED-02 (∗p \u003c 0.05 in comparison to control cells). Error bars represent the SD from three independent experiments.\n(E) Immunoblotting using cultured keratinocyte whole-cell lysates revealed markedly reduced or undetectable amounts of GRHL2 in these same individuals.","divisions":[{"label":"p","span":{"begin":0,"end":89}},{"label":"p","span":{"begin":90,"end":234}},{"label":"p","span":{"begin":235,"end":536}},{"label":"p","span":{"begin":537,"end":771}}],"tracks":[]}