March 2026 in “Journal of Personalized Medicine” Genetic differences affect breast cancer treatment success with tamoxifen in South African patients.
November 2025 in “Biomedicine & Pharmacotherapy” Calcium blockers may help prevent hearing loss by protecting hair cells.
15 citations
,
January 1991 in “Mammalian Genome” April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
23 citations
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September 2013 in “Molecular Carcinogenesis” Increased Stat3 activity reduces hair follicle stem cells and boosts other stem/progenitor cells.
20 citations
,
May 2007 in “Asian-Australasian Journal of Animal Sciences” KAP8.2 gene variations affect cashmere quality in goats.
10 citations
,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
November 2024 in “Journal of Investigative Dermatology” 135 citations
,
May 1994 in “Medical Entomology and Zoology” Mouse models help study genetic skin diseases.
March 2023 in “Journal of Cosmetic Dermatology” A genetic variant linked to hair thinning in Japanese women was found.
December 2023 in “The journal of cell biology/The Journal of cell biology” The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
52 citations
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April 2013 in “Developmental Cell” Brg1 is crucial for hair growth and skin repair by maintaining stem cells and promoting regeneration.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
5 citations
,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
March 2009 in “Encyclopedia of Life Sciences” Mutations in keratin genes cause skin disorders, but new treatments show promise.
January 2003 in “The Chinese Journal of Burns Wounds & Surface Ulcers” CK 19 expression is higher in more severe skin cancers.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
2 citations
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April 2020 in “International Journal of Dermatology and Venereology” Beta-HPV and MCPyV are linked to certain skin cancers, with ongoing research and vaccine development.
20 citations
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December 2000 in “Fertility and Sterility” The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
September 2006 in “Experimental Dermatology” Targeting multiple pathways and understanding genetic mutations are crucial for effective melanoma therapy.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
178 citations
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May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
Basal cell carcinoma behaves like hair follicles and targeting specific pathways may help treat it.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
25 citations
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June 2017 in “Journal of Investigative Dermatology” HPV8 causes skin cancer by expanding specific skin stem cells.
23 citations
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
37 citations
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November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
5 citations
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July 2014 in “Molecular Biology Reports”
November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology” WNT10B is linked to cancer development and affects survival and disease progression in various cancers.