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- Title
TRPS1 Haploinsufficiency Results in Increased STAT3 and SOX9 mRNA Expression in Hair Follicles in Trichorhinophalangeal Syndrome.
- Authors
Akitaka Shibata; Kana Tanahashi; Kazumitsu Sugiura; Masashi Akiyama
- Abstract
The article describes the case of a 26-year-old Japanese woman with trichorhinophalangeal syndrome 1 (TRPS1), a genetic disorder. Topics discussed include the clinical features of people with TRPS1 which include slow-growing hair and bulbous pear-shaped nose, analysis of the mRNA levels of the patient's TRPS1 and TRPS1-related molecules expressed by cutaneous epithelial cells using RNA samples from her plucked hairs, and the occurrence of mRNA decay in plucked hairs.
- Subjects
MESSENGER RNA; HAIRPIN (Genetics); MOLECULAR structure of nucleic acids
- Publication
Acta Dermato-Venereologica, 2015, Vol 95, Issue 5, p620
- ISSN
0001-5555
- Publication type
Case Study
- DOI
10.2340/00015555-1948