(Q34038725)

30 July 2017

title

Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene (English)

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Striate palmoplantar keratoderma

30 July 2017

main subject

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author name string

Alison G Barber

1

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30 July 2017

Muhammad Wajid

2

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30 July 2017

Morgana Columbo

3

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30 July 2017

Jillian Lubetkin

4

1 reference

30 July 2017

Angela M Christiano

5

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30 July 2017

publication date

27 December 2006

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Journal of Dermatological Science

30 July 2017

published in

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30 July 2017

volume

45

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30 July 2017

issue

3

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30 July 2017

page(s)

161-166

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Regulation of desmosome assembly and adhesion

30 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=2914539

Targetting of desmoglein 1 in inherited and acquired skin diseases.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914539

Targeting of p0071 to desmosomes and adherens junctions is mediated by different protein domains

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914539

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914539

Are desmosomes more than tethers for intermediate filaments?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914539

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914539

Clustered cadherin genes: a sequence-ready contig for the desmosomal cadherin locus on human chromosome 18

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914539

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914539

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914539

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914539

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914539

Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914539

Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914539

A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914539

Characterization of the desmosomal cadherin gene family: genomic organization of two desmoglein genes on human chromosome 18q12

29 October 2018

1 reference

12 December 2020

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

1 reference

12 December 2020

Abnormalities of keratinocyte maturation and differentiation in keratosis palmoplantaris striata. Immunohistochemical and ultrastructural study before and during etretinate therapy

1 reference

12 December 2020

Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon

1 reference

12 December 2020

Focal Palmoplantar Keratoderma Caused by an Autosomal Dominant Inherited Mutation in the Desmoglein 1 Gene

1 reference

12 December 2020

10.1016/J.JDERMSCI.2006.11.013

Identifiers

DOI

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30 July 2017

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30 July 2017

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