11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
4 citations
,
January 2023 in “Journal of Clinical Investigation” This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
This study used whole-genome resequencing to analyze genetic diversity and selection in 17 rabbit breeds, identifying genes linked to traits like coat color and body size, which could inform breeding and conservation efforts.
30 citations
,
December 1999 in “Journal of Investigative Dermatology Symposium Proceedings” This study found that in vitro treatments with 5alpha-reductase inhibitors and androgen receptor antagonists strongly stimulate VEGF expression in dermal papilla cells.
May 2025 in “Acta Biomaterialia” This study developed microneedles combining insulin-like growth factor-1 and type XVII collagen, showing more effective hair regeneration and reduced inflammation compared to minoxidil in a mouse model of androgenetic alopecia.