October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
Lysine carboxymethyl cysteinate (LCC) protects skin from UVB damage by activating autophagy.
2 citations
,
November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
59 citations
,
July 1972 in “Biochemistry” Transamidases help form strong crosslinks in hair proteins, crucial for hair strength.
372 citations
,
December 2004 in “Nature Genetics” September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
4 citations
,
May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
January 2019 in “Proceedings for Annual Meeting of The Japanese Pharmacological Society” Nε-(carboxymethyl) lysine delays hair growth by blocking a key protein.
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.
January 1999 in “Journal of Investigative Dermatology”
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
53 citations
,
June 1983 in “Journal of Investigative Dermatology” The enzyme is crucial for skin cell development and can be activated without proteolytic activation.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
7 citations
,
December 1956 in “Science” 1 citations
,
December 1956 in “Science”
10 citations
,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
May 2024 in “Frontiers in medicine” A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
February 2019 in “International Journal of Dermatology and Clinical Research” Nε-(carboxymethyl) lysine delays hair growth by blocking a key protein.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” 5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
1 citations
,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
32 citations
,
August 1982 in “Journal of the American Academy of Dermatology” GLPLS and LPP are variants of lichen planus.