The molecular bases for the palmoplantar keratodermas (Q33815904)

29 July 2017

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title

The molecular bases for the palmoplantar keratodermas (English)

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29 July 2017

Paller AS

1

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29 July 2017

publication date

1 November 1999

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29 July 2017

published in

Pediatric Dermatology

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volume

16

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29 July 2017

issue

6

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page(s)

483-486

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Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation

29 July 2017

cites work

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https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

A mutation in the mucosal keratin K4 is associated with oral white sponge nevus

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

The palmoplantar keratodermas: much more than palms and soles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

A functional "knockout" of human keratin 14

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

The regulation of splice-site selection, and its role in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

Genetic linkage of Meleda disease to chromosome 8qter

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

Loss of heterozygosity in sporadic oesophageal tumors in the tylosis oesophageal cancer (TOC) gene region of chromosome 17q

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1525-1470.1999.00126.X

10.1046/J.1525-1470.1999.00126.X

21 January 2018

Identifiers

DOI

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29 July 2017

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