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Research 30 of 33
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- Current Genetics in Hair Diseases
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
- Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway
- Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
- To grow or not to grow: Hair morphogenesis and human genetic hair disorders
- Newborn infant skin gene expression: Remarkable differences versus adults
- ST14 interacts with TMEFF1 and is a predictor of poor prognosis in ovarian cancer
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Genetics of Inherited Ichthyoses and Related Diseases
- Congenital hair loss disorders: Rare, but not too rare
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
- Molecular Dissection of Mesenchymal–Epithelial Interactions in the Hair Follicle
- Inherited ichthyoses/generalized Mendelian disorders of cornification
- Delineation of Matriptase Protein Expression by Enzymatic Gene Trapping Suggests Diverging Roles in Barrier Function, Hair Formation, and Squamous Cell Carcinogenesis
- Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
- Transcriptome Analysis of Skin from SMP30/GNL Knockout Mice Reveals the Effect of Ascorbic Acid Deficiency on Skin and Hair
- Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
- The Transmembrane Serine Protease HAT-like 4 Is Important for Epidermal Barrier Function to Prevent Body Fluid Loss
- Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
- Deep phenotyping of skin tissue remodeling in patients with systemic sclerosis treated with CD19-CAR T cells
- Differential plasma proteome analysis reveals key proteins associated with insulin resistance in acne vulgaris patients
- Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
- Matriptase Expression and Zymogen Activation in Human Pilosebaceous Unit
- Matriptase: Potent Proteolysis on the Cell Surface