(Q37951619)

25 August 2017

title

Congenital hair loss disorders: rare, but not too rare (English)

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25 August 2017

Yutaka Shimomura

1

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25 August 2017

publication date

2 November 2011

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The Journal of Dermatology

25 August 2017

published in

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25 August 2017

volume

39

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25 August 2017

issue

1

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25 August 2017

page(s)

3-10

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The secret life of the hair follicle

25 August 2017

cites work

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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

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

21 January 2018

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

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

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

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

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

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Identification and characterization of a novel lysophosphatidic acid receptor, p2y5/LPA6

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Mice with a null mutation of the TGF alpha gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation.

21 January 2018

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TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice.

21 January 2018

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The mouse waved-2 phenotype results from a point mutation in the EGF receptor tyrosine kinase

21 January 2018

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

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'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments

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

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

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Family with "pure" hair-nail ectodermal dysplasia

21 January 2018

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A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

21 January 2018

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Expression of hair keratins in the adult nail unit: an immunohistochemical analysis of the onychogenesis in the proximal nail fold, matrix and nail bed.

21 January 2018

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Mutations in GJB6 cause hidrotic ectodermal dysplasia

21 January 2018

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Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture

21 January 2018

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Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families

21 January 2018

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K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle

21 January 2018

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Inherited disorders of desmosomes.

21 January 2018

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Desmoglein 4 in Hair Follicle Differentiation and Epidermal Adhesion

21 January 2018

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

21 January 2018

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

21 January 2018

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A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles

21 January 2018

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No evidence of skin blisters with human desmocollin-3 gene mutation

21 January 2018

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Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

21 January 2018

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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

21 January 2018

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Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

21 January 2018

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

21 January 2018

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Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

21 January 2018

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

21 January 2018

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Classical cadherin adhesion molecules: coordinating cell adhesion, signaling and the cytoskeleton

21 January 2018

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Links between signal transduction, transcription and adhesion in epithelial bud development

21 January 2018

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

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

Alopecia universalis associated with a mutation in the human hairless gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

The role of the hairless (hr) gene in the regulation of hair follicle catagen transformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

Order and disorder in corneocyte adhesion

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

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

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

Hereditary hypotrichosis simplex of the scalp

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1346-8138.2011.01395.X

10.1111/J.1346-8138.2011.01395.X

21 January 2018

Identifiers

DOI

1 reference

25 August 2017

1 reference