(Q39730475)

14 September 2017

title

Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis (English)

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14 September 2017

4

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14 September 2017

5

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14 September 2017

Toshifumi Nomura

6

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author name string

Satoru Shinkuma

1

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14 September 2017

Masashi Akiyama

2

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14 September 2017

Asuka Inoue

3

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14 September 2017

Ken Arita

7

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14 September 2017

Riichiro Abe

8

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14 September 2017

Kei Ito

9

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14 September 2017

Hideki Nakamura

10

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14 September 2017

Hideyuki Ujiie

11

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14 September 2017

Akihiko Shibaki

12

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14 September 2017

Hiraku Suga

13

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14 September 2017

Yuichiro Tsunemi

14

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14 September 2017

Wataru Nishie

15

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14 September 2017

Hiroshi Shimizu

16

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14 September 2017

publication date

1 May 2010

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14 September 2017

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14 September 2017

volume

31

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14 September 2017

issue

5

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14 September 2017

page(s)

602-610

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

14 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

Structure and function of extracellular phospholipase A1 belonging to the pancreatic lipase gene family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

Haploview: analysis and visualization of LD and haplotype maps

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

Structural basis for the substrate selectivity of pancreatic lipases and some related proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

Biochemical and molecular characterization of two phosphatidic acid-selective phospholipase A1s, mPA-PLA1alpha and mPA-PLA1beta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

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/10.1002%2FHUMU.21235

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/10.1002%2FHUMU.21235

7 January 2021

Involvement of the Arg-Asp-His catalytic triad in enzymatic cleavage of the phosphodiester bond

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

ADAMs as mediators of EGF receptor transactivation by G protein-coupled receptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

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/10.1002%2FHUMU.21235

7 January 2021

In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

Ectodomain shedding of epidermal growth factor receptor ligands is required for keratinocyte migration in cutaneous wound healing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

Genetic evidence for a novel human desmosomal cadherin, desmoglein 4

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21235

7 January 2021

Identifiers

DOI

10.1002/HUMU.21235

1 reference

14 September 2017

1 reference