(Q34290662)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504553%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

title

Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504553%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

1 reference

4

1 reference

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19 October 2019

Lindsay A. Farrer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504553%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

author name string

E I Rogaev

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504553%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

E A Rogaeva

2

1 reference

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19 October 2019

E K Ginter

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7504553%20AND%20SRC:MED&resulttype=core&format=json

19 October 2019

A B Shlensky

6

1 reference

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19 October 2019

A N Pritkov

7

1 reference

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19 October 2019

V N Mordovtsev

8

1 reference

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19 October 2019

P H St George-Hyslop

9

1 reference

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19 October 2019

language of work or name

English

0 references

publication date

1 October 1993

1 reference

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19 October 2019

1 reference

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19 October 2019

volume

5

1 reference

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19 October 2019

issue

2

1 reference

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19 October 2019

page(s)

158-162

1 reference

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A group of type I keratin genes on human chromosome 17: characterization and expression

19 October 2019

cites work

1 reference

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Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden

21 January 2018

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7 January 2021

Hypovitaminosis-A in a family with tylosis and clinodactyly

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7 January 2021

KERATOSIS PALMARIS ET PLANTARIS

1 reference

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7 January 2021

Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12

1 reference

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7 January 2021

Organization, structure, and polymorphisms of the human profilaggrin gene

1 reference

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7 January 2021

Structure and evolution of the human involucrin gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021

Expression of retinoic acid receptor genes in keratinizing front of skin

1 reference

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7 January 2021

A second-generation linkage map of the human genome

1 reference

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7 January 2021

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

1 reference

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7 January 2021

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

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7 January 2021

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

1 reference

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7 January 2021

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

1 reference

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7 January 2021

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q

1 reference

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7 January 2021

Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021

Identification of an orthologous mammalian cytokeratin gene. High degree of intron sequence conservation during evolution of human cytokeratin 10.

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021

Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21.

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021

Cloning and characterization of the t(15;17) translocation breakpoint region in acute promyelocytic leukemia

1 reference

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7 January 2021

Glycine loops in proteins: their occurence in certain intermediate filament chains, loricrins and single-stranded RNA binding proteins

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

1 reference

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7 January 2021

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

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7 January 2021

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1 reference

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7 January 2021

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

1 reference

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7 January 2021

The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021

Different keratin polypeptides in epidermis and other epithelia of human skin: a specific cytokeratin of molecular weight 46,000 in epithelia of the pilosebaceous tract and basal cell epitheliomas

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021

Changes in keratin gene expression during terminal differentiation of the keratinocyte

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021

Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021

Two RFLPs near HOX2@/NGFR at locus D17S444E

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021

Absence of duplication of chromosome 21 genes in familial and sporadic Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021

A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021

An algorithm to improve the computational efficiency of genetic linkage analysis.

1 reference

https://api.crossref.org/works/10.1038%2FNG1093-158

7 January 2021