15 citations
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
14 citations
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February 2008 in “Stem Cells and Development” Seven genes are highly expressed in both germ-line and hematopoietic stem cells.
April 2023 in “Journal of Investigative Dermatology” LSD1 is essential for healthy skin development and creating the skin's protective barrier.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
17 citations
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September 2022 in “Genes & Genomics” Long non-coding RNAs affect feather growth in chickens in ways that don't follow traditional genetic rules.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
Blocking CXCR4 may help treat hidradenitis suppurativa.
30 citations
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August 2021 in “Oncogene” miR-22 helps skin cancer grow and spread by activating specific cell signals.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
11 citations
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June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
1 citations
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July 2017 in “PubMed” Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
3 citations
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January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” p120-catenin helps control skin inflammation by regulating cadherin levels.
74 citations
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
26 citations
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July 2016 in “PLOS ONE” Activating β-catenin in certain skin cells speeds up hair growth in mice.
7 citations
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October 2023 in “BMC Genomics” Noncoding RNAs help determine cashmere quality in goats.
December 2025 in “JGH Open” Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
April 2005 in “Journal of Investigative Dermatology” Vitamin D helps protect skin, PSORS1 gene's risk interval for psoriasis is expanded, hair follicles can be generated from mouse cells, and interferon-γ may cause pigmented skin lesions.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
15 citations
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January 1991 in “Mammalian Genome” 25 citations
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November 2015 in “Journal of Dermatological Science” Sebum helps protect human skin from microbes.
7 citations
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January 2021 in “The journal of gene medicine” Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
50 citations
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September 2023 in “Biomarker Research” S100A6 is important for cell functions and can help diagnose and treat diseases.
September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” CCCA can affect both genders and all ages, and it has a genetic component.
March 2025 in “Institutional Repositories DataBase (IRDB)” The testes significantly contribute to vitamin D metabolism and may affect male reproductive health and conditions like hair loss.
56 citations
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October 2007 in “Journal of Biological Chemistry” Cathepsin L is essential for heart health and its absence causes heart problems and hair loss.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.