50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
May 2018 in “Dermatologic Surgery” 6 citations
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March 1996 in “Journal of Investigative Dermatology” 22 citations
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April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
5 citations
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October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
September 2012 in “대한피부과학회지” Desmocollin 1 helps maintain skin structure during fetal development.
10 citations
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September 2022 in “Cellular and Molecular Life Sciences” SOX9 is essential for the development of various organs and hair follicles.
1 citations
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July 2017 in “Cancer Research” Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
April 2026 in “Apollo (University of Cambridge)” SOX9 is crucial for cell development and repair but can cause fibrosis and cancer if misregulated.
November 2020 in “Journal of The American Academy of Dermatology” The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
5 citations
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January 2001 in “Journal of dermatological science” The G(S) alpha subunit gene may help start hair follicle growth in newborn mice.
1 citations
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January 2012 The CRABP I gene in cashmere goats is highly conserved but has unique features at specific amino sites.
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.
171 citations
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June 2004 in “Journal of Investigative Dermatology” GLI2 activates GLI1, promoting skin tumor growth and hair development.
3 citations
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March 2014 in “Journal of Industrial Microbiology & Biotechnology” Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
15 citations
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November 2020 in “Development” Stem cells in the eye have different roles and behaviors, helping maintain and repair the eye's surface.
13 citations
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June 2014 in “Molecular therapy” The lentiviral array can monitor and predict gene activity during stem cell differentiation.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
August 2005 in “The Journal of Cell Biology” Sgk3 kinase is essential for normal hair growth in mice.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
3 citations
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March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
1 citations
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January 2013 51 citations
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December 2006 in “Mammalian Genome” 2 citations
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September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
5 citations
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May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
1 citations
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September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.