Mutations In AEC Syndrome Skin Reveal A Role For p63 In Basement Membrane Adhesion, Skin Barrier Integrity And Hair Follicle Biology
February 2012
in “
British Journal of Dermatology
”
p63 gene AEC syndrome epidermal adhesion skin barrier formation hair follicle biology basement membrane proteins FRAS1 collagen VII small proline-rich proteins late cornified envelope protein hornerin lipid transporters ALOX15B hair-associated keratins keratin 25 keratin 27 keratin 31 keratin 33B keratin 34 keratin 35 keratin 81 keratin 85 p63 AEC skin barrier hair keratins collagen 7
Studysummary This study found significant changes in gene expression related to skin structure and signaling pathways in AEC syndrome skin, offering new insights into the syndrome's molecular underpinnings.
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