(Q28240418)

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More than one gene involved in monilethrix: intracellular but also extracellular players

scientific article (publication date: June 2006)

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title

More than one gene involved in monilethrix: intracellular but also extracellular players (English)

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author name string

Jurgen Schweizer

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language of work or name

English

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publication date

June 2006

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published in

Journal of Investigative Dermatology

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volume

126

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issue

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page(s)

1216-9

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cites work

Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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inferred from DOI database lookup

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

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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Keratins of the human hair follicle

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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Human hair abnormalities resulting from inherited desmosome gene mutations.

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

based on heuristic

inferred from DOI database lookup

A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model.

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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Lanceolate hair (lah): a recessive mouse mutation with alopecia and abnormal hair.

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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Evidence for genetic heterogeneity in monilethrix

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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Lanceolate hair-J (lahJ): a mouse model for human hair disorders

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

based on heuristic

inferred from DOI database lookup

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FSJ.JID.5700266

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7 January 2021

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Identifiers

DOI

10.1038/SJ.JID.5700266

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Dimensions Publication ID

1013001255

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PubMed publication ID

16702971

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ResearchGate publication ID

7078599

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