November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
3 citations
,
March 2025 in “Science Advances” A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
6 citations
,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
11 citations
,
January 1997 in “Journal of Dermatological Science” A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
27 citations
,
April 2018 in “Scientific Reports” Psoriasis patients' immune response to a hair protein depends on their specific gene type.
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.
40 citations
,
December 2010 in “Human Genetics” 15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
153 citations
,
June 2015 in “GenomeBiology.com” The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.
23 citations
,
January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
January 2026 in “JCEM Case Reports” Genetics may play a significant role in gender dysphoria.
July 2017 in “Cancer Research” Krt15+ cells in mice can resist radiation, regenerate tissue, and start tumors, suggesting new cancer treatment targets.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
1 citations
,
July 2017 in “Cancer Research” Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
January 2004 in “Linchuang pifuke zazhi” Black hairs have more pigment-related genes, while gray hairs have more keratin-related genes.
23 citations
,
August 1983 in “PubMed” Clq deficiency is linked to systemic lupus erythematosus symptoms.
4 citations
,
October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.