A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis

Xia Yu; Fuyin Chen; Cheng Ni; Guolong Zhang; Luyao Zheng; Jia Zhang; Chengrang Li; Aileen Sandilands; Zhirong Yao; Ming Li

doi:10.1016/j.jid.2017.08.035

A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis

Xia Yu, Fuyin Chen, Cheng Ni, Guolong Zhang, Luyao Zheng, Jia Zhang, Chengrang Li, Aileen Sandilands, Zhirong Yao, Ming Li (Lead / Corresponding author)

Biological Chemistry and Drug Discovery

Research output: Contribution to journal › Letter › peer-review

9 Citations (Scopus)

350 Downloads (Pure)

Original language	English
Pages (from-to)	230-233
Number of pages	4
Journal	Journal of Investigative Dermatology
Volume	138
Issue number	1
Early online date	9 Sept 2017
DOIs	https://doi.org/10.1016/j.jid.2017.08.035
Publication status	Published - Jan 2018

Keywords

Journal article
Autosomal dominant
KRT25
Whole exome sequencing
ADWH/hypotrichosis

ASJC Scopus subject areas

Dermatology
Molecular Biology
Biochemistry
Cell Biology

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10.1016/j.jid.2017.08.035

Author Accepted ManuscriptAccepted author manuscript, 2.96 MBLicence: CC BY-NC-ND

MICA: Delivering Gene Silencing Therapy to the Epidermis and Ocular Surface
Hickerson, R. (Investigator) & McLean, I. (Investigator)
Medical Research Council
1/06/17 → 31/05/24
Project: Research

Cite this

@article{4fb0780a46ea414c8c9e44ec5bad139a,

title = "A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis",

keywords = "Journal article, Autosomal dominant , KRT25 , Whole exome sequencing , ADWH/hypotrichosis",

author = "Xia Yu and Fuyin Chen and Cheng Ni and Guolong Zhang and Luyao Zheng and Jia Zhang and Chengrang Li and Aileen Sandilands and Zhirong Yao and Ming Li",

note = "This work was supported by a grant from the National Nature Science Foundation of China (81472867) and a grant from Shanghai Municipal Education Commission-Gaofeng Clinical Medcine Grant Support (20161417).",

year = "2018",

month = jan,

doi = "10.1016/j.jid.2017.08.035",

language = "English",

volume = "138",

pages = "230--233",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Elsevier",

number = "1",

}

TY - JOUR

T1 - A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis

AU - Yu, Xia

AU - Chen, Fuyin

AU - Ni, Cheng

AU - Zhang, Guolong

AU - Zheng, Luyao

AU - Zhang, Jia

AU - Li, Chengrang

AU - Sandilands, Aileen

AU - Yao, Zhirong

AU - Li, Ming

N1 - This work was supported by a grant from the National Nature Science Foundation of China (81472867) and a grant from Shanghai Municipal Education Commission-Gaofeng Clinical Medcine Grant Support (20161417).

PY - 2018/1

Y1 - 2018/1

KW - Journal article

KW - Autosomal dominant

KW - KRT25

KW - Whole exome sequencing

KW - ADWH/hypotrichosis

U2 - 10.1016/j.jid.2017.08.035

DO - 10.1016/j.jid.2017.08.035

M3 - Letter

C2 - 28899683

SN - 0022-202X

VL - 138

SP - 230

EP - 233

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 1

ER -

A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis

Keywords

ASJC Scopus subject areas

Access to Document

Projects

MICA: Delivering Gene Silencing Therapy to the Epidermis and Ocular Surface

Cite this