Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix (Q34434093)

2 August 2017

title

Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix (English)

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2 August 2017

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H. Winter

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9 November 2024

M. A. Rogers

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9 November 2024

L. Langbein

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H. P. Stevens

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I. M. Leigh

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C. Labrèze

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S. Roul

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A. Taieb

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T. Krieg

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J. Schweizer

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9 November 2024

language of work or name

English

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publication date

1 August 1997

1 reference

2 August 2017

August 1997

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9241275

full work available at URL

9 November 2024

http://www.nature.com/articles/ng0897-372

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http://www.nature.com/articles/ng0897-372.pdf

9 November 2024

file format

Portable Document Format

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9 November 2024

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2 August 2017

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2 August 2017

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2 August 2017

page(s)

372-374

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Acidic and basic hair/nail ("hard") keratins: their colocalization in upper cortical and cuticle cells of the human hair follicle and their relationship to "soft" keratins

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

Sequence and expression of murine type I hair keratins mHa2 and mHa3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

A cDNA encoding the human type I hair keratin hHa1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

Sequence data and chromosomal localization of human type I and type II hair keratin genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

Sequences and differential expression of three novel human type-II hair keratins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

Intermediate filaments in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

The complement of native alpha-keratin polypeptides of hair-forming cells: a subset of eight polypeptides that differ from epithelial cytokeratins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

7 January 2021

A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

7 January 2021

Genomic characterization of the human type I cuticular hair keratin hHa2 and identification of an adjacent novel type I hair keratin gene hHa5

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

7 January 2021

Monilethrix: an electron microscopic and electron histochemical study

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

7 January 2021

A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

7 January 2021

Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

7 January 2021

Monilethrix: a clinicopathological illustration of a cortical defect

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

7 January 2021

Pathogenesis of monilethrix: computer stereography and electron microscopy

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

7 January 2021

Ichthyosis bullosa of Siemens--a disease involving keratin 2e

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

7 January 2021

Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

7 January 2021

Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

7 January 2021

Evidence for genetic heterogeneity in monilethrix

1 reference

https://api.crossref.org/works/10.1038%2FNG0897-372

7 January 2021

Journal of Investigative Dermatology

106

843

BP Korge

1996

1 reference

Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain

9 November 2024

1 reference

9 November 2024

Identifiers

DOI

10.1038/NG0897-372

1 reference

2 August 2017

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