(Q28145552)

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

scientific article (publication date: June 2000)

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

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Netherton syndrome

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Alain Hovnanian

object named as

A Hovnanian

13

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author name string

S Chavanas

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C Bodemer

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A Rochat

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D Hamel-Teillac

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M Ali

5

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A D Irvine

6

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J L Bonafé

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J Wilkinson

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A Taïeb

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Y Barrandon

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J I Harper

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Y de Prost

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publication date

June 2000

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Nature Genetics

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25

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2

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141-2

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Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.

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https://api.crossref.org/works/10.1038%2F75977

7 January 2021

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inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2F75977

7 January 2021

based on heuristic

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ECM and Cell Surface Proteolysis: Regulating Cellular Ecology

1 reference

https://api.crossref.org/works/10.1038%2F75977

7 January 2021

based on heuristic

inferred from DOI database lookup

Inhibition of NF-kappaB activation and augmentation of IkappaBbeta by secretory leukocyte protease inhibitor during lung inflammation

1 reference

https://api.crossref.org/works/10.1038%2F75977

7 January 2021

based on heuristic

inferred from DOI database lookup

Activation of the heat shock factor 1 by serine protease inhibitors. An effect associated with nuclear factor-kappaB inhibition

1 reference

https://api.crossref.org/works/10.1038%2F75977

7 January 2021

based on heuristic

inferred from DOI database lookup

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

1 reference

https://api.crossref.org/works/10.1038%2F75977

7 January 2021

based on heuristic

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Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

1 reference

https://api.crossref.org/works/10.1038%2F75977

7 January 2021

based on heuristic

inferred from DOI database lookup

Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome: differentiation from other infantile erythrodermas and pathogenic implications

1 reference

https://api.crossref.org/works/10.1038%2F75977

7 January 2021

based on heuristic

inferred from DOI database lookup

IgE in asthma and atopy: cellular and molecular connections

1 reference

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Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations

1 reference

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7 January 2021

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The Association of Atopy with a Gain-of-Function Mutation in the α Subunit of the Interleukin-4 Receptor

1 reference

https://api.crossref.org/works/10.1038%2F75977

7 January 2021

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Genetic variants of IL-13 signalling and human asthma and atopy

1 reference

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based on heuristic

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Partial V(D)J recombination activity leads to Omenn syndrome

1 reference

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inferred from DOI database lookup

Cellular consequences of thrombin-receptor activation

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

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