Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation (Q35925326)

11 August 2017

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation (English)

1 reference

11 August 2017

Lynn Petukhova

1

1 reference

11 August 2017

Edilson C Sousa

2

1 reference

11 August 2017

Amalia Martinez-Mir

3

1 reference

11 August 2017

Anna Vitebsky

4

1 reference

11 August 2017

Lina G Dos Santos

5

1 reference

11 August 2017

Lawrence Shapiro

6

1 reference

11 August 2017

Chad Haynes

7

1 reference

11 August 2017

Derek Gordon

8

1 reference

11 August 2017

Yutaka Shimomura

9

1 reference

11 August 2017

Angela M Christiano

10

1 reference

11 August 2017

13 September 2008

1 reference

11 August 2017

1 reference

11 August 2017

92

1 reference

11 August 2017

5

1 reference

11 August 2017

273-278

1 reference

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

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

Molecular dissection of mesenchymal-epithelial interactions in the hair follicle

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

Molecular principles of hair follicle induction and morphogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

The importance of cationic amino acid transporter expression in human skin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

Alopecia universalis associated with a mutation in the human hairless gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

Mutation of the mouse klotho gene leads to a syndrome resembling ageing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

The fate of trichohyalin. Sequential post-translational modifications by peptidyl-arginine deiminase and transglutaminases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

Isolation of a gene encoding a putative leucine zipper structure that is induced by transforming growth factor beta 1 and other growth factors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

Disentangling the roots of inherited hair disorders.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

Opposing effects on TSC-22 expression by BMP and receptor tyrosine kinase signals in the developing feather tract.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

Exposing the human nude phenotype

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3341170

Desmoglein 4 in Hair Follicle Differentiation and Epidermal Adhesion

24 September 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.06.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.06.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.06.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.06.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.06.009

Profile of transforming growth factor-beta responses during the murine hair cycle

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.06.009

10.1016/J.YGENO.2008.06.009

7 January 2021

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

1 reference