January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
2 citations
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June 2021 in “Research Square (Research Square)” A new gene mutation causes long hair in some Maine Coon cats.
30 citations
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October 1999 in “Differentiation” Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
173 citations
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July 2012 in “British Journal of Dermatology” Dabrafenib can cause skin growths and sometimes low-grade skin cancer.
4 citations
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October 2013 in “PLoS ONE” Vemurafenib causes significant skin side effects, requiring regular dermatologist care and sun protection.
20 citations
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February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
2 citations
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November 2008 in “Medical Hypotheses” VEGF and its receptor might cause hair loss.
42 citations
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April 2009 in “Human Genetics” A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
November 2011 in “APMIS. Acta pathologica, microbiologica et immunologica Scandinavica./APMIS” Polyomavirus A2 infection in newborn mice caused hair follicle tumors.
23 citations
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March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
December 2025 in “International Journal of Surgery” GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
5 citations
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December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge 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.
2 citations
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June 2014 in “مجلة مركز بحوث التقنيات الاحيائية” Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
January 2024 in “Wiadomości Lekarskie” Pemigatinib may be effective for treating ZMYM2::FGFR1 fusion-positive leukemia.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
49 citations
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August 2004 in “The FASEB Journal” Mice with human skin protein K8 had more skin problems and cancer.
3 citations
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April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
4 citations
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October 2023 in “African Journal of Urology” Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
March 2024 in “EMBO molecular medicine” Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.