(Q84965768)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971920%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Keratin 71 mutations: from water dogs to woolly hair (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971920%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

Sivan Harel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971920%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

Angela M Christiano

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971920%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

language of work or name

English

0 references

publication date

1 October 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971920%20AND%20SRC:MED&resulttype=core&format=json

Journal of Investigative Dermatology

13 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971920%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

volume

132

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971920%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971920%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

page(s)

2315-2317

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22971920%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/jid.2012.291

13 February 2020

exact match

0 references

cites work

Coat variation in the domestic dog is governed by variants in three genes

1 reference

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Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study

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'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments

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7 January 2021

Scratching the surface of skin development

1 reference

https://api.crossref.org/works/10.1038%2FJID.2012.291

7 January 2021

A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2012.291

7 January 2021

LPA-producing enzyme PA-PLA₁α regulates hair follicle development by modulating EGFR signalling

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https://api.crossref.org/works/10.1038%2FJID.2012.291

7 January 2021

Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH

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https://api.crossref.org/works/10.1038%2FJID.2012.291

7 January 2021

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%2FJID.2012.291

7 January 2021

Identification of the rat Rex mutation as a 7-bp deletion at splicing acceptor site of the Krt71 gene.

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https://api.crossref.org/works/10.1038%2FJID.2012.291

7 January 2021

Keratins of the human hair follicle

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https://api.crossref.org/works/10.1038%2FJID.2012.291

7 January 2021

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

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7 January 2021

The expression of desmosomal and corneodesmosomal antigens shows specific variations during the terminal differentiation of epidermis and hair follicle epithelia

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7 January 2021

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

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7 January 2021

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%2FJID.2012.291

7 January 2021

New consensus nomenclature for mammalian keratins

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7 January 2021

APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

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7 January 2021

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

1 reference

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7 January 2021

Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair

1 reference

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7 January 2021

Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia

1 reference

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7 January 2021

Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture

1 reference

https://api.crossref.org/works/10.1038%2FJID.2012.291

7 January 2021

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

1 reference

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7 January 2021

Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

1 reference

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7 January 2021

An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae

1 reference

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7 January 2021