(Q52610104)

4 May 2018

title

A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. (English)

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4 May 2018

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M Farooq

1

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4 May 2018

M Ito

series ordinal

2

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4 May 2018

M Naito

series ordinal

3

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4 May 2018

Y Shimomura

series ordinal

4

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4 May 2018

language of work or name

English

0 references

publication date

19 July 2011

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4 May 2018

British Journal of Dermatology

published in

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4 May 2018

volume

165

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4 May 2018

issue

2

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4 May 2018

page(s)

425-431

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4 May 2018

Inherited disorders of desmosomes.

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

Desmoglein 4 in Hair Follicle Differentiation and Epidermal Adhesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

Identification of p2y9/GPR23 as a Novel G Protein-coupled Receptor for Lysophosphatidic Acid, Structurally Distant from the Edg Family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

Efficient selection for high-expression transfectants with a novel eukaryotic vector

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

Nonsense-mediated mRNA decay in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

Identification of the plakoglobin-binding domain in desmoglein and its role in plaque assembly and intermediate filament anchorage

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2011.10373.X

10.1111/J.1365-2133.2011.10373.X

21 January 2018

Identifiers

DOI

1 reference

4 May 2018

1 reference

4 May 2018