Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1684/ejd.2009.0717 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Gene detection in a family with monilethrix and treatment with 5% topical minoxidil.
Skin Res Technol
January 2023
Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital, Zhengzhou, Henan, China.
Article Synopsis
- * Genetic testing revealed a specific mutation (p.E402K) in the KRT86 gene in the proband and her father, absent in the mother and healthy controls.
- * After six months of using topical minoxidil, the proband showed significant improvements in hair density and quality, with no side effects reported.
Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix.
Chin Med J (Engl)
August 2013
Department of Dermatology, Peking University Third Hospital, Beijing, China.
Background: Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. In this study, we collected a Han monilethrix family to detect the mutations in patients and investigated the correlation between the genotype and phenotype of monilethrix.
Methods: In this study, we identified a Chinese family with monilethrix through light microscopic and scanning electron microscopic (SEM) examination.
Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
Genet Couns
June 2009
Karadeniz Technical University, Faculty of Medicine, Department Medical Biology, Trabzon, Turkey.
Monilethrix, a rare autosomal dominant disease characterized by hair fragility and follicular hyperkeratosis, is caused by mutations in three type II hair cortex keratins. The human keratin family comprises 54 members, 28 type I and 26 type II. The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia.
View Article and Find Full Text PDF[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
April 2008
Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430022 P. R. China.
Objective: To identify the human hair basic kerat in 6 gene (hHB6) gene mutation in a mother and her daughter with monilethrix.
Methods: Clinical data were obtained by investigating the pedigree and examining the patients' hair and skin. Total genomic DNA of the family participants was isolated.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!