10 citations
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September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
64 citations
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March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
4 citations
,
April 2010 in “Expert review of dermatology” Restoring immune privilege in hair follicles could help treat certain types of hair loss.
126 citations
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October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
26 citations
,
January 1992 in “Carcinogenesis” TPA strongly increases ODC activity in certain skin cells, potentially aiding tumor growth.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
7 citations
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January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” NIPP1 is important for healthy skin and could help treat skin inflammation.
66 citations
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January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
November 2022 in “Journal of the Endocrine Society” Immunotherapy for cancer caused a patient to develop a condition affecting hormone production, requiring ongoing hormone replacement therapy.
1 citations
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March 2023 in “Anais Brasileiros de Dermatologia” 181 citations
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December 2017 in “Trends in immunology” Intestinal intraepithelial lymphocytes are crucial for gut immunity and maintaining the mucosal barrier.
7 citations
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July 2018 in “Stem cell research” Hair samples can be used to create stem cells easily and non-invasively.
19 citations
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December 2006 in “Journal of Structural Biology” Type I and Type II keratin chains can form heterodimers despite sequence differences.
9 citations
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December 2020 in “International Journal of Medical Sciences” iPSCs help understand and treat neurodevelopmental disorders.
April 2023 in “Journal of Investigative Dermatology” Type 1/17 inflammation in psoriasis increases skin cell growth due to a molecule that could be a new treatment target.
6 citations
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July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
December 2015 in “OPAL (Open@LaTrobe) (La Trobe University)” QLT0267 stops hair follicle cell growth and movement.
171 citations
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June 2004 in “Journal of Investigative Dermatology” GLI2 activates GLI1, promoting skin tumor growth and hair development.
354 citations
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February 2011 in “Genes & Development” EZH1 and EZH2 are crucial for healthy hair growth and skin repair.
August 2021 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by disrupting hair follicle immunity, suggesting a new treatment approach.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
November 2022 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by themselves.
70 citations
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December 2004 in “Differentiation” The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Dermal EZH2 controls skin cell growth and differentiation in mice.
37 citations
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January 1986 in “Carcinogenesis” ODC expression in mouse skin and tumors is varied and can be inhibited by retinoic acid or cycloheximide.
March 2025 in “Experimental Dermatology” Overexpression of IKZF1 and Ikaros causes hair loss in mice similar to alopecia areata.
30 citations
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June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
26 citations
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October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.