Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes. (Q34290662)

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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)

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19 October 2019

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4

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19 October 2019

Lindsay A. Farrer

5

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19 October 2019

author name string

E I Rogaev

1

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19 October 2019

E A Rogaeva

2

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19 October 2019

E K Ginter

3

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19 October 2019

A B Shlensky

6

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19 October 2019

A N Pritkov

7

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19 October 2019

V N Mordovtsev

8

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19 October 2019

P H St George-Hyslop

9

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19 October 2019

language of work or name

English

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publication date

1 October 1993

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19 October 2019

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19 October 2019

volume

5

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19 October 2019

issue

2

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19 October 2019

page(s)

158-162

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https://scigraph.springernature.com/pub.10.1038/ng1093-158

19 October 2019

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cites work

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

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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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Hypovitaminosis-A in a family with tylosis and clinodactyly

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KERATOSIS PALMARIS ET PLANTARIS

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

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Organization, structure, and polymorphisms of the human profilaggrin gene

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Structure and evolution of the human involucrin gene

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Expression of retinoic acid receptor genes in keratinizing front of skin

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A second-generation linkage map of the human genome

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

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7 January 2021

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

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7 January 2021

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

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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

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

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7 January 2021

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

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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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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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

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7 January 2021

Changes in keratin gene expression during terminal differentiation of the keratinocyte

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7 January 2021

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

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7 January 2021

Two RFLPs near HOX2@/NGFR at locus D17S444E

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1038/NG1093-158

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

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