2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
2 citations
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June 2025 in “Journal of Investigative Dermatology”
January 2018 in “Journal of the American Academy of Dermatology” More extensive trials are needed to understand tofacitinib's role in treating severe hair loss.
16 citations
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July 2017 in “Rheumatology and Therapy” Tofacitinib, a medication for arthritis, showed potential for treating severe hair loss in a small Brazilian case series, but more research is needed.
9 citations
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October 2021 in “International Journal of Dermatology” Tofacitinib is effective and safe for treating severe hair loss in a Saudi population.
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.
18 citations
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November 2012 in “Australasian Journal of Dermatology” A 66-year-old man with a rare case of male frontal fibrosing alopecia did not regrow hair despite treatment.
13 citations
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July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
3 citations
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October 2021 in “Turkish Journal Of Neurology” Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
24 citations
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June 2016 in “Acta dermato-venereologica” Tofacitinib helped a young woman's severe hair loss and arthritis but not her plaque psoriasis.
March 2023 in “Journal of Cosmetic Dermatology” A genetic variant linked to hair thinning in Japanese women was found.
April 2012 in “Encyclopedia of Life Sciences” Different genes are linked to various types of hair loss.
1 citations
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October 2025 in “Journal of Allergy and Clinical Immunology” A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
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.
2 citations
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May 2019 in “Small ruminant research” Mutations in specific llama genes may affect fiber quality for textiles.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
42 citations
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March 2015 in “Anais Brasileiros de Dermatologia” Anti-TNF therapy can cause hair loss and skin issues.
1 citations
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January 2025 in “medRxiv” Trichotillomania may have a genetic link to psychiatric disorders.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
4 citations
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January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
4 citations
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May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
1 citations
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January 2022 in “European Journal of Pharmacology” Riboflavin 5′-phosphate (FMN) shows potential for treating androgen-related conditions but may be limited in treating prostate cancer.
7 citations
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April 2021 in “British Journal of Dermatology” Topical tofacitinib may effectively and safely regrow facial hair in some people with alopecia areata.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
January 2024 in “Dermatologic therapy” Tofacitinib is a safe treatment for hair loss in children, but long-term use may be needed for best results.
11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.