Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
about
Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessingRegulation of cell surface protease matriptase by HAI2 is essential for placental development, neural tube closure and embryonic survival in miceMutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesionRegulation of feto-maternal barrier by matriptase- and PAR-2-mediated signaling is required for placental morphogenesis and mouse embryonic survivalStructure of catalytic domain of Matriptase in complex with Sunflower trypsin inhibitor-1The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelinMatriptase autoactivation is tightly regulated by the cellular chemical environmentsMatriptase activation, an early cellular response to acidosis.Matriptase zymogen supports epithelial development, homeostasis and regenerationMembrane-anchored serine proteases in vertebrate cell and developmental biologyExpression and genetic loss of function analysis of the HAT/DESC cluster proteases TMPRSS11A and HATCare of the newborn with ichthyosis.Regulation of the matriptase-prostasin cell surface proteolytic cascade by hepatocyte growth factor activator inhibitor-1 during epidermal differentiationCorin mutation R539C from hypertensive patients impairs zymogen activation and generates an inactive alternative ectodomain fragment.Increased matriptase zymogen activation in inflammatory skin disorders.PAR2 absence completely rescues inflammation and ichthyosis caused by altered CAP1/Prss8 expression in mouse skin.Matriptase deletion initiates a Sjögren's syndrome-like disease in mice.Matriptase is inhibited by extravascular antithrombin in epithelial cells but not in most carcinoma cellsProbing the interaction mechanism of small molecule inhibitors with matriptase based on molecular dynamics simulation and free energy calculations.Activity and inhibition of prostasin and matriptase on apical and basolateral surfaces of human airway epithelial cellsTargeting matriptase in breast cancer abrogates tumour progression via impairment of stromal-epithelial growth factor signalling.Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrierHepatocyte growth factor activator inhibitor-2 prevents shedding of matriptaseProstasin is required for matriptase activation in intestinal epithelial cells to regulate closure of the paracellular pathway.The cutting edge: membrane-anchored serine protease activities in the pericellular microenvironment.Membrane-anchored serine proteases in health and disease.Type II transmembrane serine proteases as potential targets for cancer therapy.Loss of matriptase suppression underlies spint1 mutation-associated ichthyosis and postnatal lethality.Epithelial integrity is maintained by a matriptase-dependent proteolytic pathway.Matriptase: a culprit in cancer?Matriptase expression and zymogen activation in human pilosebaceous unit.Matriptase-deficient mice exhibit ichthyotic skin with a selective shift in skin microbiota.Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytesTo grow or not to grow: hair morphogenesis and human genetic hair disordersThe Transmembrane Serine Protease HAT-like 4 Is Important for Epidermal Barrier Function to Prevent Body Fluid Loss.A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome.Order and disorder in corneocyte adhesion.Congenital hair loss disorders: rare, but not too rare.The matriptase-prostasin proteolytic cascade in epithelial development and pathology.Proteases and proteomics: cutting to the core of human skin pathologies.
P2860
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P2860
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Autosomal recessive ichthyosis ...... ne serine protease matriptase.
@ast
Autosomal recessive ichthyosis ...... ne serine protease matriptase.
@en
type
label
Autosomal recessive ichthyosis ...... ne serine protease matriptase.
@ast
Autosomal recessive ichthyosis ...... ne serine protease matriptase.
@en
prefLabel
Autosomal recessive ichthyosis ...... ne serine protease matriptase.
@ast
Autosomal recessive ichthyosis ...... ne serine protease matriptase.
@en
P2093
P2860
P50
P356
P1476
Autosomal recessive ichthyosis ...... ne serine protease matriptase.
@en
P2093
Alex Zvulunov
Dan Ben Amitai
Eli Sprecher
Limor Rainshtein
Margarita Indelman
Metsada Pasmanik-Chor
Mordechai Shohat
Nurit Magal
Raziel Lurie
Revital Attia
P2860
P304
P356
10.1086/512487
P407
P577
2007-01-23T00:00:00Z