477 citations
,
March 2004 in “Proceedings of the National Academy of Sciences” The DMI3 gene is essential for nodule development and symbiosis in certain plants.
April 2019 in “Journal of Investigative Dermatology” FGFR2 signaling controls Merkel cell formation in different skin regions.
April 2018 in “Journal of Investigative Dermatology” Id2 gene helps keep hair follicle stem cells inactive.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
333 citations
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March 2000 in “Proceedings of the National Academy of Sciences” Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
6 citations
,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” IGN genes may regulate hair growth and could be targeted for hair-loss treatments.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
23 citations
,
April 2016 in “American Journal of Pathology” The research suggests that a specific skin gene can be controlled by signals within and between cells and is wrongly activated in certain skin diseases.
22 citations
,
April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
1 citations
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January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
16 citations
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April 1978 in “Genetics Research” Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.
1 citations
,
July 2025 in “Scientific Reports” CD133+ cells are crucial for hair growth.
2 citations
,
March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
3 citations
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July 2023 in “Cells” MG53 helps reduce skin damage caused by nitrogen mustard.
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.
5 citations
,
September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
133 citations
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January 2009 in “Nature” Lgr5 and the vitamin D receptor are key in controlling skin inflammation and tumor risk in mice.
1 citations
,
September 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing Dicer from pigment cells in newborn mice causes early hair graying and changes in cell migration molecules.
The transporter protein SH1446 in Staphylococcus hominis is key to underarm odor production.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
April 2024 in “African Journal of Biological Sciences” The patient with lupus and Degos' disease showed significant improvement with treatment.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
1 citations
,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
August 2001 in “The Journal of Cell Biology” A new keratin gene was found in mice, explaining hair growth.
3 citations
,
May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.