32 citations
,
November 1998 in “Journal of Biological Chemistry” Mouse and human keratin 16 can both form filaments, with differences likely due to the tail domain, not the helical domain.
30 citations
,
October 2014 in “PLOS ONE” BAF200 is essential for proper heart and coronary artery formation.
9 citations
,
June 2019 in “Cell cycle/Cell cycle (Georgetown, Tex. Online)” A specific RNA increases hair stem cell growth and skin healing by affecting a protein through interaction with a microRNA.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
3 citations
,
June 1993 in “Hair transplant forum international” The document's conclusion cannot be provided because the content is not available to parse.
7 citations
,
April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
6 citations
,
April 2016 in “Australasian journal of dermatology” Renal transplant patients on tacrolimus and sirolimus may develop acne keloidalis nuchae.
98 citations
,
May 2016 in “Genes” Understanding wool keratin-associated proteins in sheep can help improve wool quality through selective breeding.
62 citations
,
August 2006 in “Journal of Chromatography B” Modern techniques have improved the understanding of keratin proteins, revealing their roles in various cells and potential in disease diagnosis.
27 citations
,
April 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
6 citations
,
January 2006 in “Journal of dermatological science” Runx1 helps control the KAP5 gene in human hair follicles.
1 citations
,
May 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
158 citations
,
February 2012 in “Journal of Investigative Dermatology” FGF18 helps keep hair in its resting phase, affecting hair growth cycles.
15 citations
,
August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
27 citations
,
July 2013 in “Journal of Investigative Dermatology” Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.
July 2024 in “Journal of Investigative Dermatology” DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
2 citations
,
January 2018 The document reports the 19th global case of a rare skin condition in a patient from Colombia.
3 citations
,
January 2014 Collagen XVIII and Bmx tyrosine kinase are important for hair growth and skin cancer development.
3 citations
,
April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
4 citations
,
January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
2 citations
,
July 2021 in “UNC Libraries” Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
76 citations
,
February 1993 in “Journal of Biological Chemistry” KAP6 genes are conserved across species and active in hair follicles.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
34 citations
,
February 2012 in “American Journal of Dermatopathology” Calretinin can help identify certain skin structures and tumors.
The study concludes that Twenty-nail dystrophy is more common in boys among children and in women among adults, with varying response to treatment.
140 citations
,
October 2008 in “Nature Genetics”
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.