(Q24678447)

English

The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope

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scholarly article

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The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope (English)

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author name string

A Ishida-Yamamoto

1

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J A McGrath

2

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H Lam

3

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H Iizuka

4

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R A Friedman

5

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A M Christiano

6

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language of work or name

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publication date

September 1997

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American Journal of Human Genetics

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61

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3

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581-9

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Biochemical, Structural, and Transglutaminase Substrate Properties Of Human Loricrin, the Major Epidermal Cornified Cell Envelope Protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

7 April 2017

Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

7 April 2017

The human loricrin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

7 April 2017

Empirical Predictions of Protein Conformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

7 April 2017

The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

7 April 2017

Prediction of protein secondary structure at better than 70% accuracy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

7 April 2017

Frontiers in keratodermas: pushing the envelope

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

28 September 2017

Topology prediction for helical transmembrane proteins at 86% accuracy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

28 September 2017

Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

28 September 2017

Transmembrane helices predicted at 95% accuracy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

28 September 2017

Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

28 September 2017

Erythrokeratodermia variabilis. Report of three cases and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

28 September 2017

Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

28 September 2017

Progressive erythrokeratodermia and cochlear hearing impairment. A case report and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

28 September 2017

Progressive Symmetric Erythrokeratodermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

28 September 2017

Further evidence for localization of the gene of erythrokeratodermia variabilis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

30 May 2018

Progressive symmetric erythrokeratodermia of Darier Gottron

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

30 May 2018

Characterisation of eight monoclonal antibodies to involucrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715943

30 May 2018

Progressive symmetric erythrokeratodermia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Erythrokeratodermia Congenitalis Progressiva Symmetrica (Gottron)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Erythrokeratodermia congenitalis progressiva symmetrica (Gottron). II. An analysis of kinetics of epidermal cell proliferation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Erythrokeratodermia progressiva symmetrica: report of 10 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic linkage between erythrokeratodermia variabilis and Rh locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive symmetric erythrokeratodermia. Histological and ultrastructural study of patient before and after treatment with etretinate

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Progressive erythrokeratodermia. Ultrastructural and biochemical study]

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is erythrokeratoderma one disorder? A clinical and ultrastructural study of two siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[A case report of progressive symmetric erythrokeratodermia and a review of progressive erythrokeratodermia in Japan]

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive partially symmetric erythrokeratodermia with deafness: histological and ultrastructural evidence for a subtype distinct from Schnyder's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Histological and ultrastructural study of a family with erythrokeratodermia progressiva symmetrica

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differences in involucrin immunolabeling within cornified cell envelopes in normal and psoriatic epidermis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunoelectron microscopic analysis of cornified cell envelope formation in normal and psoriatic epidermis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9326323

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Keratoma hereditarium mutilans

1 reference

https://api.crossref.org/works/10.1086%2F515518

7 January 2021

based on heuristic

inferred from DOI database lookup

Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope

1 reference

https://api.crossref.org/works/10.1086%2F515518

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal Dominant Keratoderma, Ichthyosiform Dermatosis and Elevated Serum Beta-Glucuronidase

1 reference

https://api.crossref.org/works/10.1086%2F515518

7 January 2021

based on heuristic

inferred from DOI database lookup

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