December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
August 2025 in “Dermatology and Therapy” JAK inhibitors show promise for treating alopecia areata but have serious side effects.
4 citations
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
December 2025 in “International Journal of Innovative Technologies in Social Science” Oral JAK inhibitors effectively treat alopecia areata and are generally well-tolerated.
7 citations
,
May 2005 in “Experimental Dermatology” Two mouse mutations cause similar hair loss despite different skin changes.
JAK inhibitors show promise in treating moderate to severe alopecia areata.
Suppressing ODC activity reduces tumor growth in hair follicles.
76 citations
,
February 2007 in “Cancer Research” Protein Kinase Cε increases skin sensitivity to UV damage and skin cancer risk.
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
3 citations
,
May 2023 in “Clinical drug investigation” JAK inhibitors for alopecia areata are linked to minor side effects like headache and acne, but not to an increased risk of serious adverse events.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
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.
7 citations
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September 2019 in “Journal of Cellular Physiology” Akt2 protein is essential for normal cell division in early mouse embryos.
113 citations
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May 2002 in “PubMed” Overexpressing COX-2 in mice skin reduces skin tumor development.
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of TET2 increases the risk of skin and oral cancer.
6 citations
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March 2016 in “Scandinavian journal of immunology” Janus kinase inhibitors show promise in treating alopecia areata but need more safety research.
8 citations
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January 2015 in “Genetics and Molecular Research” Certain gene variations increase the risk of alopecia areata in Koreans.
January 2023 in “International Journal of Zoological Investigations” Certain genetic variations in IL-16 may increase the risk of alopecia areata.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
February 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” JAK inhibitors may help treat alopecia areata by reversing hair loss.
30 citations
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December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
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.
January 2026 in “Clinical and Experimental Dermatology” Ruxolitinib helped a patient with alopecia areata regrow hair.