November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
27 citations
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February 2003 in “European Journal Of Oral Sciences” SVpgC2a cells show abnormal growth and keratin changes, modeling early cancer development.
46 citations
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September 2007 in “Journal of Investigative Dermatology” 50 citations
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February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
September 2025 in “Science Advances” PADI4 enzyme slows down cell growth in developing hair follicles.
January 2022 in “SSRN Electronic Journal” LncRNA RP11-818024.3 helps hair growth and recovery in hair loss by boosting cell survival and reducing cell death.
October 2025 in “Journal of the Endocrine Society” A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
1 citations
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August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
November 2025 in “DOAJ (DOAJ: Directory of Open Access Journals)” CD25+ CD4+ Tregs and certain plasma proteins are linked to hair loss.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
December 2015 in “PLOS Genetics” 3 citations
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January 2014 Collagen XVIII and Bmx tyrosine kinase are important for hair growth and skin cancer development.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
January 2013 in “Faculty of Health; Institute of Health and Biomedical Innovation” Four genetic risk areas related to male-pattern baldness were identified, with WNT signaling playing a role in its development.
April 2023 in “Journal of Investigative Dermatology” A protein called MPZL3 in mitochondria slows down hair growth and could be a target for treating hair growth disorders.
12 citations
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February 2010 in “Journal of the European Academy of Dermatology and Venereology” Some people with chronic hair loss may have thyroid autoimmunity.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” TET enzymes are important for skin and hair development by controlling gene activity in specific areas.
November 2011 in “APMIS. Acta pathologica, microbiologica et immunologica Scandinavica./APMIS” Polyomavirus A2 infection in newborn mice caused hair follicle tumors.
18 citations
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December 2016 in “European journal of pharmacology” A new compound slows cancer cell growth and causes cell death by blocking cell cycle progression and increasing cell-damaging molecules.
5 citations
,
January 2016 in “Dermatology” No significant link between CAG repeat numbers and female pattern hair loss in Han Chinese population.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
2 citations
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September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
41 citations
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October 2011 in “Clinical and Experimental Dermatology” G allele of AR Stul polymorphism linked to higher hair loss risk, especially in white people.
32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
13 citations
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January 2023 in “Annual Review of Cancer Biology” Cancer risk is linked to the balance of mutations and environmental factors, not just the number of mutations.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
6 citations
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July 2020 in “The Kaohsiung Journal of Medical Sciences” Inhibiting the PI3K/Akt pathway may help prevent radiation-induced liver injury.
April 2023 in “Journal of Investigative Dermatology” An automated system can predict death risk in thin melanoma by analyzing immune cells.
4 citations
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February 2018 in “Journal of Investigative Dermatology” The document concludes that a protein involved in hair growth may link to baldness and that more research is needed on its role in hair loss and skin cancer treatments.