October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
7 citations
,
December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
27 citations
,
April 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
15 citations
,
March 2021 in “EMBO Reports” PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.
10 citations
,
July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
17 citations
,
June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
1 citations
,
May 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
The naked mutation in mice causes hair loss and helps identify keratin genes.
30 citations
,
March 2019 in “Archives animal breeding/Archiv für Tierzucht” The KRTAP15-1 gene affects cashmere fiber thickness in goats.
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
August 2001 in “The Journal of Cell Biology” A new keratin gene was found in mice, explaining hair growth.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
5 citations
,
May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
99 citations
,
February 2000 in “PubMed” Overexpressing PKCepsilon in mice reduces papillomas but increases carcinomas.
1 citations
,
April 2012 in “Cancer Research” Antizyme reduces tumor growth and normalizes skin cell development affected by MEK.
64 citations
,
February 2008 in “Cancer Research” Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.
3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
5 citations
,
June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
22 citations
,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
38 citations
,
January 2014 in “Journal of Dermatological Science” Krtap11-1 is important for hair strength and structure.
324 citations
,
May 2002 in “Oncogene” 33 citations
,
September 1990 in “Proceedings of the National Academy of Sciences” The study showed that a specific DNA sequence can control gene expression in hair growth areas of mice.