A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1-Reference-Cited by-同舟云学术

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A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1

Published:1998-07 Issue:1 Volume:111 Page:169-172
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Winter Hermelita,Labrèze Christine,Chapalain Valérie,Surlève-Bazeille Jean Etienne,Mercier Michel,Rogers Michael A.,Taieb Alain,Schweizer Jürgen

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference23 articles.

1. Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expression;Birch-machin;Br J Dermatol,1997

2. Characterization and chromosamal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle;Bowden;J Invest Dermatol,1998

3. Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes;Cooper;Hum Genet,1989

4. Monilethrix: a clinicopathological illustration of a cortical defect;De Berker;Br J Dermatol,1993

5. Of mice and men: Genetic disorders of the cytoskeleton;Fuchs;Mol Biol Cell,1997

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1. A new KRT86 mutation in a Chinese family with monilethrix;Clinical and Experimental Dermatology;2021-11-23

2. Alopezien und Hypotrichosen im Kindesalter: Wann muss an genetische Diagnostik gedacht werden?;Monatsschrift Kinderheilkunde;2021-01-19

3. Ectodermal Dysplasias;Harper's Textbook of Pediatric Dermatology;2019-11-20

4. Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene;Journal of the European Academy of Dermatology and Venereology;2017-06-01

5. NovelKRT83andKRT86mutations associated with monilethrix;Experimental Dermatology;2015-02-26

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