(Q46551708)

23 December 2017

title

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

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23 December 2017

author name string

Yutaka Shimomura

1

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23 December 2017

Muhammad Wajid

2

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23 December 2017

Lynn Petukhova

3

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23 December 2017

Lawrence Shapiro

4

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23 December 2017

Angela M Christiano

5

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23 December 2017

language of work or name

English

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publication date

2 October 2008

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23 December 2017

Journal of Investigative Dermatology

published in

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23 December 2017

volume

129

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23 December 2017

issue

3

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23 December 2017

page(s)

622-628

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23 December 2017

A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

A novel type II cytokeratin, mK6irs, is expressed in the Huxley and Henle layers of the mouse inner root sheath

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

Hereditary woolly hair and keratosis pilaris

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

Lipase H, a new member of the triglyceride lipase family synthesized by the intestine

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

A novel phosphatidic acid-selective phospholipase A1 that produces lysophosphatidic acid

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

Disentangling the roots of inherited hair disorders.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

Unraveling the molecular mechanisms of hair and nail genodermatoses

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

Phosphatidic acid has a potential to promote hair growth in vitro and in vivo, and activates mitogen-activated protein kinase/extracellular signal-regulated kinase kinase in hair epithelial cells

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.290

7 January 2021

Identifiers

DOI

10.1038/JID.2008.290

1 reference

23 December 2017

release_wkykc677enez3ieuirkfbnecnm

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wkykc677enez3ieuirkfbnecnm

24 November 2022

mapped directly with Wikidata item

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23 December 2017