10 citations
,
January 2013 in “Journal of skin cancer” PKC ε increases hair follicle stem cell turnover and may raise skin cancer risk.
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.
July 2025 in “Journal of Cutaneous Pathology” Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
14 citations
,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
4 citations
,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
11 citations
,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
25 citations
,
May 1994 in “Journal of Investigative Dermatology” Researchers found a new gene, hacl-1, that is active in mouse hair follicles during hair growth and may be important for hair biology.
132 citations
,
February 2002 in “Journal of Biological Chemistry” HOXC13 is crucial for regulating hair keratin genes in hair follicles.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
51 citations
,
February 2004 in “Journal of Investigative Dermatology” MCSP may help identify and regulate skin stem cells, affecting hair growth and regeneration.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
3 citations
,
March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
8 citations
,
May 2005 in “Fertility and Sterility” A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
94 citations
,
October 1994 in “The Journal of Cell Biology” Too much keratin 16 in mice skin causes abnormal skin thickening and structure.
77 citations
,
March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
117 citations
,
August 1999 in “Nature Genetics” 46 citations
,
May 1995 in “Proceedings of the National Academy of Sciences” A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
October 2025 in “Physiologia” Spermidine may improve skin health and hair growth by enhancing cell function.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
112 citations
,
January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
6 citations
,
January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
13 citations
,
November 2009 in “Journal of Dermatological Science” A gene mutation causes woolly hair in a Syrian patient.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.