Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing (Q24321438)

keratinocyte differentiation

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Hans Christian Hennies

7

object named as

Hans Christian Hennies

0 references

author name string

Thomas Alef

1

0 references

Serena Torres

2

0 references

Ingrid Hausser

3

0 references

Dieter Metze

4

0 references

Umit Türsen

5

0 references

Gilles G Lestringant

Journal of Investigative Dermatology

6

0 references

language of work or name

English

0 references

publication date

April 2009

0 references

published in

0 references

volume

129

0 references

page(s)

862-9

0 references

issue

4

0 references

cites work

GRR: graphical representation of relationship errors

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Comprehensive human genetic maps: individual and sex-specific variation in recombination

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Inactivation of serine protease Matriptase1a by its inhibitor Hai1 is required for epithelial integrity of the zebrafish epidermis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Caspase-14 protects against epidermal UVB photodamage and water loss

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

hK5 and hK7, two serine proteinases abundant in human skin, are inhibited by LEKTI domain 6.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

12R-lipoxygenase deficiency disrupts epidermal barrier function

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis?

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

The epidermal barrier function is dependent on the serine protease CAP1/Prss8

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Matriptase: potent proteolysis on the cell surface

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Co-localization of the channel activating protease prostasin/(CAP1/PRSS8) with its candidate activator, matriptase.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Delineation of matriptase protein expression by enzymatic gene trapping suggests diverging roles in barrier function, hair formation, and squamous cell carcinogenesis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Loss of proteolytically processed filaggrin caused by epidermal deletion of Matriptase/MT-SP1.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Live imaging of chronic inflammation caused by mutation of zebrafish Hai1.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase)

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Evidence for a matriptase-prostasin proteolytic cascade regulating terminal epidermal differentiation

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Genetic syndrome with ichthyosis: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and woolly hair; second report

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Matriptase and its putative role in cancer

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Molecular cloning, tissue-specific expression, and cellular localization of human prostasin mRNA

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Epidermal differentiation: the role of proteases and their inhibitors

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.311

7 January 2021

Identifiers

DOI

10.1038/JID.2008.311

1 reference

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

3980954

1021992494

0 references

3980954

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference