Associated Papers
A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.
Ahmad F et al.
European Journal of Dermatology : Ejd, 2018
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
Youssefian L et al.
Orphanet Journal of Rare Diseases, 2017
HAI-2 stabilizes, inhibits and regulates SEA-cleavage-dependent secretory transport of matriptase.
Nonboe AW et al.
Traffic (copenhagen, Denmark), 2017
A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome.
Bauer A et al.
G3 (bethesda, Md.), 2017
Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.
Takeichi T et al.
The British Journal of Dermatology, 2015
Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytes.
Chen YW et al.
The Journal of Investigative Dermatology, 2014
The matriptase-prostasin proteolytic cascade in epithelial development and pathology.
Miller GS et al.
Cell and Tissue Research, 2013
Roles of CUB and LDL receptor class A domain repeats of a transmembrane serine protease matriptase in its zymogen activation.
Inouye K et al.
Journal of Biochemistry, 2013
ST14 gene variant and decreased matriptase protein expression predict poor breast cancer survival.
Kauppinen JM et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2010
Epithelial integrity is maintained by a matriptase-dependent proteolytic pathway.
List K et al.
The American Journal of Pathology, 2009
Activation of a membrane-bound serine protease matriptase on the cell surface.
Miyake Y et al.
Journal of Biochemistry, 2009
Requirement of the activity of hepatocyte growth factor activator inhibitor type 1 for the extracellular appearance of a transmembrane serine protease matriptase in monkey kidney COS-1 cells.
Miyake Y et al.
Cytotechnology, 2009
Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.
Alef T et al.
The Journal of Investigative Dermatology, 2009
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.
Avrahami L et al.
Clinical Genetics, 2008
Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease.
Désilets A et al.
The Journal of Biological Chemistry, 2008
Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice.
List K et al.
The Journal of Biological Chemistry, 2007
[Recessive autosomal ichthyosis with hypotrichosis with mutation in the ST14 gene].
Dereure O
Annales De Dermatologie Et De Venereologie, 2007
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
Basel-Vanagaite L et al.
American Journal of Human Genetics, 2007
[Inherited abnormalities of the epidermis caused by mutation of keratins].
Hohl D
Annales De Dermatologie Et De Venereologie, 1995