27 citations
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March 2012 in “Dermatologic Surgery” Higher caspase-1 levels found in balding scalps; reducing it may help treat hair loss.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
November 2022 in “Journal of Investigative Dermatology” The research found specific genes that are more active in balding cells, which could be causing hair loss.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
July 2024 in “Journal of Investigative Dermatology” Brepocitinib improves cicatricial alopecia and reduces key immune markers.
11 citations
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February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis” A new method can detect mutations in mice by observing changes in hair follicle cells.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
August 2021 in “Journal of medical science and clinical research” An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
15 citations
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January 1991 in “Mammalian Genome”
7 citations
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August 2022 in “Experimental dermatology” Blocking YAP/TAZ could be a new way to treat skin cancer.
June 2018 in “Journal of Dermatological Science” UV radiation may cause DNA changes in skin, certain UVB therapy helps psoriasis, a new gene mutation is linked to mild piebaldism, different immune cells affect psoriasis, a drug promotes hair growth, and some cancer drugs could treat skin barrier issues.
January 2018 in “Stem cell biology and regenerative medicine” ATP-dependent chromatin remodeling is crucial for skin development and stem cell function.
72 citations
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July 2012 in “Journal of Investigative Dermatology” Mice lacking a key DNA methylation enzyme in skin cells have a lower chance of activating stem cells necessary for hair growth, leading to progressive hair loss.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
19 citations
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May 2016 in “Matrix Biology” Deleting a specific protein in skin cells disrupts normal hair growth and development.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
2 citations
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May 2022 in “The journal of immunology/The Journal of immunology” BST2 protein and certain T cells increase in early alopecia areata.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Increasing type 17 collagen reduces aging signs in skin cells caused by UV light.
6 citations
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May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
September 2006 in “Experimental Dermatology” Targeting multiple pathways and understanding genetic mutations are crucial for effective melanoma therapy.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
April 2026 in “npj Parkinson s Disease” VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
52 citations
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July 2011 in “PubMed” TRPS1 is crucial for bone, kidney, and hair follicle development.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.