125 citations
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August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
17 citations
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August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
19 citations
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August 2018 in “JAMA dermatology” Mesenchymal stem cells in people with Hidradenitis Suppurativa are more inflammatory, possibly contributing to the disease.
April 2023 in “Journal of Investigative Dermatology” Disrupting a specific protein's function in hair follicle stem cells triggers their activation and a self-healing process.
84 citations
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April 2002 in “Archives of Dermatology” Loose anagen hair syndrome may be caused by keratin gene mutations.
11 citations
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January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
July 2023 in “The Keio Journal of Medicine” Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
31 citations
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October 1992 in “PubMed” A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
1 citations
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September 2021 in “Journal of Cosmetic Dermatology” Certain gene variations may increase the risk of hair loss in Egyptians.
35 citations
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May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
1 citations
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October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
14 citations
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April 2013 in “Journal of dermatological science” Hairless protein reduces Msx2 gene activity, affecting hair follicle development.
10 citations
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August 2023 in “The EMBO Journal” Kdm6b is crucial for skin cell differentiation.
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December 2017 in “Journal of Experimental Botany” AtCSLD3 and GhCSLD3 genes enhance root growth and cell elongation in plants.
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September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
24 citations
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June 2012 in “BMC Research Notes” The HGCA tool helps identify genes that work together by analyzing their co-expression patterns.
29 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
40 citations
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December 2010 in “Human Genetics” 3 citations
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October 2021 in “Turkish Journal Of Neurology” Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
April 2018 in “Journal of Investigative Dermatology” Stabilizing HIF1A in hair follicles increases glycolysis, which may help reduce oxidative stress and support hair growth.
26 citations
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August 2019 in “Stem Cell Research & Therapy” PBX1 helps hair stem cells grow and change by turning on certain cell signals and preventing cell death, which may be useful for hair regrowth treatments.
277 citations
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July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
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June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
2 citations
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January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
June 2022 in “Dermatologic Therapy” Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.
11 citations
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May 1996 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The main enzyme found in pubic skin that could be targeted to treat excessive hair growth is 5 alpha-R2.