29 citations
,
June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
556 citations
,
September 2008 in “Genes & Development” Wnt signaling is vital for cell growth, development, and cancer research.
March 2026 in “Dermatopathology” Different types of skin gland tumors have unique genetic traits, which can guide personalized treatments.
10 citations
,
November 2019 in “Journal of the European Academy of Dermatology and Venereology” The RAS pathway affects hair growth differently in CFCS and CS.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
173 citations
,
January 2014 in “Nature Cell Biology” Wnt signaling controls whether hair follicle stem cells stay inactive or regenerate hair.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
April 2018 in “Journal of Investigative Dermatology” Basonuclin 1 (BNC1) helps skin cells multiply and move, which is crucial for wound healing.
24 citations
,
February 2015 in “Experimental Cell Research” NFIC helps human dental stem cells grow and become tooth-like cells.
April 2026 in “Cellular and Molecular Immunology” SPT6 prevents excessive skin inflammation by blocking a feedback loop.
April 2023 in “Journal of Investigative Dermatology” Using DNase enzymes to break down harmful NETs could be a new treatment for Stevens-Johnson syndrome and toxic epidermal necrolysis.
16 citations
,
November 2024 in “Human Genetics and Genomics Advances” Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
9 citations
,
October 2008 in “Mutation research” N-acetyl-L-cysteine (NAC) can prevent DNA damage and protect cells from harm.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
April 2012 in “Cancer Research” Stat3 influences keratinocyte stem cell behavior, affecting differentiation and migration.
60 citations
,
September 2023 in “Science” BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
August 2019 in “Research Square (Research Square)” Certain long non-coding RNAs in cashmere goats affect hair growth when treated with a specific growth factor.
23 citations
,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
47 citations
,
April 2021 in “BMC Medical Genomics” Certain gene variants can influence acne risk and severity.
Mutations in specific genes cause different types of ectodermal dysplasias.
April 2018 in “Journal of Investigative Dermatology” Higher levels of nidogen1 and type IV collagen are found in basal cell carcinoma compared to normal skin.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
232 citations
,
July 1995 in “Nature Genetics” July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
October 2005 in “Nature reviews. Molecular cell biology (Print)” Hairless protein is key for hair growth, cell differences cause gene expression variation, and the N-end rule pathway senses nitric oxide for protein breakdown.
The naked mutation in mice causes hair loss and helps identify keratin genes.