153 citations
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June 2015 in “GenomeBiology.com” The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
234 citations
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November 2009 in “American journal of human genetics” Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
11 citations
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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
1 citations
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April 2018 in “Journal of Investigative Dermatology” PRC1 is essential for proper skin development and stem cell formation by controlling gene activity.
10 citations
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January 2013 in “Journal of skin cancer” PKC ε increases hair follicle stem cell turnover and may raise skin cancer risk.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
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January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
5 citations
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September 2021 in “Journal of Molecular Histology” LHX2, with other markers, can identify hair placodes in rats.
21 citations
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January 1995 in “Molecular Biology Reports” Scientists discovered two versions of a new human hair keratin gene.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
38 citations
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November 1991 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Keratins 8 and 14 can help identify and diagnose benign skin tumors.
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October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
April 2017 in “Journal of Investigative Dermatology” Removing the Crif1 gene in mouse skin disrupts skin balance and hair growth.
120 citations
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August 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cytokeratin 19 and cytokeratin 15 are key markers for monitoring the quality and self-renewing potential of engineered skin.
4 citations
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January 2021 in “Journal of Clinical Medical Research” c-Kit is important for heart regeneration and cancer development.
14 citations
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March 2015 in “Stem Cell Research & Therapy” ABCG2 protein marks stem-like skin cells in human epidermis.
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
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November 2011 in “Development” Trps1 is essential for proper hair follicle development.
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May 2001 in “Development” Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
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January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
2 citations
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February 2021 in “FEBS open bio” Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
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February 1993 in “Journal of Biological Chemistry” KAP6 genes are conserved across species and active in hair follicles.
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.