5 citations
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December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
April 2017 in “Journal of Investigative Dermatology” Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
June 2018 in “Surgical Case Reports” S-1 treatment led to a complete response in pancreatic cancer with manageable side effects.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
25 citations
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April 1985 in “Journal of Investigative Dermatology” September 2025 in “Journal of Investigative Dermatology” SLC3A2 is crucial for hair follicle stem cell function and hair growth.
354 citations
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February 2011 in “Genes & Development” EZH1 and EZH2 are crucial for healthy hair growth and skin repair.
November 2025 in “Journal of Investigative Dermatology” AMP-303 injections can increase hair growth in androgenetic alopecia with minimal side effects.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” CTCF protein is essential for skin and hair follicle development in mice.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
21 citations
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July 2018 in “International Journal of Molecular Sciences” Foxn1 is crucial for skin development and healing, and altering its expression may aid regenerative medicine.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
31 citations
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October 2010 in “Progress in lipid research” LPA3 is crucial for embryo implantation and links LPA to prostaglandin signaling.
5 citations
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October 2016 in “Experimental Dermatology” Activin A is important for creating new hair follicles.
22 citations
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December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” A mouse gene mutation increases the risk of skin cancer.
December 2024 in “Stem Cell Research & Therapy” ZO-1 helps hair follicle stem cells renew better by changing their structure.
17 citations
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June 2023 in “Pharmaceuticals” Inflammasome proteins may help diagnose and treat Parkinson's disease.
3 citations
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March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
April 2017 in “Journal of Investigative Dermatology” Reduced Stx17 expression may contribute to Alopecia Areata.
1 citations
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July 2024 in “Journal of Investigative Dermatology” Immune cells boost stem cell activity in hairy moles, causing more hair growth.
27 citations
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June 2013 in “Genes & development” Cav1.2 affects hair growth and could be a target for hair loss treatments.
2 citations
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May 2023 in “The Journal of Immunology” NXC736 significantly reduced hair loss in mice with alopecia areata.
22 citations
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September 2001 in “Journal of Investigative Dermatology” S100A8 and S100A9 proteins help form hair shafts during growth.
11 citations
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August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
106 citations
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October 2016 in “Cell Stem Cell” PDGFA/AKT signaling is important for the growth and maintenance of certain skin fat cells.
8 citations
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September 2017 in “Scientific Reports” MAD2B slows down the growth of skin cells that are important for hair development by interacting with TCF4.
29 citations
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October 2010 in “Journal of Investigative Dermatology” Activating Kras in mouse skin causes excess skin and hair loss.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.