Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.
about
Structure of catalytic domain of Matriptase in complex with Sunflower trypsin inhibitor-1Matriptase activation, an early cellular response to acidosis.Membrane-anchored serine proteases in vertebrate cell and developmental biologyRegulation of the matriptase-prostasin cell surface proteolytic cascade by hepatocyte growth factor activator inhibitor-1 during epidermal differentiationIncreased matriptase zymogen activation in inflammatory skin disorders.Matriptase is inhibited by extravascular antithrombin in epithelial cells but not in most carcinoma cellsThe 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.Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.Matriptase: a culprit in cancer?Matriptase expression and zymogen activation in human pilosebaceous unit.Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytesThe 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.Matriptase-1 expression is lost in psoriatic skin lesions and is downregulated by TNFα in vitro.Matriptase shedding is closely coupled with matriptase zymogen activation and requires de novo proteolytic cleavage likely involving its own activity.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.Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.Loss of HAI-2 in mice with decreased prostasin activity leads to an early-onset intestinal failure resembling congenital tufting enteropathy.Matriptase-1 expression is lost in psoriatic skin lesions and is downregulated by TNFα in vitro
P2860
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P2860
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Autosomal recessive ichthyosis ...... delineation of the phenotype.
@en
Autosomal recessive ichthyosis ...... delineation of the phenotype.
@nl
type
label
Autosomal recessive ichthyosis ...... delineation of the phenotype.
@en
Autosomal recessive ichthyosis ...... delineation of the phenotype.
@nl
prefLabel
Autosomal recessive ichthyosis ...... delineation of the phenotype.
@en
Autosomal recessive ichthyosis ...... delineation of the phenotype.
@nl
P2093
P1433
P1476
Autosomal recessive ichthyosis ...... delineation of the phenotype.
@en
P2093
J van Marle
L Avrahami
L Basel-Vanagaite
L Rainshtein
M Pasmanik-Chor
P356
10.1111/J.1399-0004.2008.01006.X
P577
2008-04-28T00:00:00Z