(Q45182349)

10 December 2017

title

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

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10 December 2017

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10 December 2017

Andrew N. J. McKenzie

object named as

Andrew N J McKenzie

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10 December 2017

Niamh E Mangan

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10 December 2017

Duncan R Hewett

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10 December 2017

Alison L Simons

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10 December 2017

Helen E Jolin

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10 December 2017

Shelia M Green

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10 December 2017

publication date

8 December 2004

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10 December 2017

published in

Human Molecular Genetics

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10 December 2017

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10 December 2017

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10 December 2017

page(s)

335-346

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Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides

10 December 2017

cites work

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI030

Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing

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Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families

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Neonatal and infantile erythrodermas: a retrospective study of 51 patients

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

21 January 2018

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LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome

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Gene polymorphism in Netherton and common atopic disease

21 January 2018

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Association between polymorphisms in serine protease inhibitor, kazal type 5 and asthma phenotypes in a large German population sample

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Association of SPINK5 gene polymorphisms with atopic dermatitis in the Japanese population

21 January 2018

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Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the Japanese

21 January 2018

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Identification of 9 genes differentially expressed in head and neck squamous cell carcinoma

21 January 2018

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LEKTI, a novel 15-domain type of human serine proteinase inhibitor

21 January 2018

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LEKTI: a multidomain serine proteinase inhibitor with pathophysiological relevance

21 January 2018

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Inhibition of serine proteinases plasmin, trypsin, subtilisin A, cathepsin G, and elastase by LEKTI: a kinetic analysis

21 January 2018

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Biochemical features, molecular biology and clinical relevance of the human 15-domain serine proteinase inhibitor LEKTI

21 January 2018

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SPINK5: a gene for atopic dermatitis and asthma

21 January 2018

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SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases

21 January 2018

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Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis

21 January 2018

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Epithelial barrier function: assembly and structural features of the cornified cell envelope

21 January 2018

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Klf4 is a transcription factor required for establishing the barrier function of the skin

21 January 2018

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

21 January 2018

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Filaggrin: a keratin filament associated protein

21 January 2018

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Stratum corneum moisturization at the molecular level.

21 January 2018

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Regulated expression of human filaggrin in keratinocytes results in cytoskeletal disruption, loss of cell-cell adhesion, and cell cycle arrest

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI030

Epidermal-specific defect of GPI anchor in Pig-a null mice results in Harlequin ichthyosis-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI030

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI030

Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI030

21 January 2018

Identifiers

DOI

10.1093/HMG/DDI030

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10 December 2017

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