(Q33808625)

29 July 2017

title

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

1 reference

29 July 2017

Yutaka Shimomura

1

1 reference

29 July 2017

Muhammad Wajid

2

1 reference

29 July 2017

Abraham Zlotogorski

3

1 reference

29 July 2017

Young-Jin Lee

4

1 reference

29 July 2017

Robert H Rice

5

1 reference

29 July 2017

Angela M Christiano

6

1 reference

29 July 2017

language of work or name

English

0 references

publication date

5 March 2009

1 reference

Journal of Investigative Dermatology

29 July 2017

published in

1 reference

29 July 2017

volume

129

1 reference

29 July 2017

issue

8

1 reference

29 July 2017

page(s)

1927-1934

1 reference

PeptideAtlas: a resource for target selection for emerging targeted proteomics workflows

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

Protein abundance profiling of the Escherichia coli cytosol

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

Exponentially modified protein abundance index (emPAI) for estimation of absolute protein amount in proteomics by the number of sequenced peptides per protein

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

Keratins of the human hair follicle

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

Nonsense-mediated mRNA decay in health and disease

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

Alopecia universalis associated with a mutation in the human hairless gene

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

Defects in RNA splicing and the consequence of shortened translational reading frames

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

Proteome analysis of human hair shaft: from protein identification to posttranslational modification.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

ON A FAMILY WITH THE RECESSIVE TRAIT OF WOOLLY HAIR, HYPOTRICHOSIS AND OTHER ANOMALIES

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

Statistical Analysis of Membrane Proteome Expression Changes inSaccharomycescerevisiae

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859194

Woolly hair. Clinical and general aspects

30 October 2018

1 reference

12 December 2020

Hereditary woolly hair and keratosis pilaris

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Exposing the human nude phenotype

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FJID.2009.19

7 January 2021

inferred from DOI database lookup

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FJID.2009.19

7 January 2021

inferred from DOI database lookup

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FJID.2009.19

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/JID.2009.19

1 reference

Dimensions Publication ID

29 July 2017

0 references

1 reference

29 July 2017

1 reference