Article
FGF5 is a crucial regulator of hair length in humans.
Proceedings of the National Academy of Sciences of the United States of America - 22 Jul 2014
Higgins Claire A, Petukhova Lynn, Harel Sivan, Ho Yuan Y, Drill Esther, Shapiro Lawrence, Wajid Muhammad, Christiano Angela M
Abstract excerpt
Mechanisms that regulate the growth of eyelashes have remained obscure. We ascertained two families from Pakistan who presented with familial trichomegaly, or extreme eyelash growth. Using a combination of whole exome sequencing and homozygosity mapping, we identified distinct pathogenic mutations within fibroblast growth factor 5 (FGF5) that underlie the disorder. Subsequent sequencing of this gene in several...
Topics
- Amino Acid Sequence
- Exons
- Female
- Fibroblast Growth Factor 5
- Hair
- Hair Follicle
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation, Missense