PCOS involves genetic and immune factors, especially T cells, affecting its development.
Blocking CXCR4 may help treat hidradenitis suppurativa.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
13 citations
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November 1995 in “European Archives of Oto-Rhino-Laryngology” 42 citations
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February 2000 in “Journal of Investigative Dermatology” Type VII collagen absence helps skin development by allowing tissue remodeling.
3 citations
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March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
9 citations
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July 2007 in “Journal of Investigative Dermatology” Claudin expression changes help the skin respond to injury.
12 citations
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January 2013 in “Acta Histochemica” Junctional proteins stabilize the inner root sheath and connect the companion layer in human hair.
6 citations
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April 2021 in “NAR Genomics and Bioinformatics” PolyQ repeats in neural proteins evolve together, affecting brain function and disease.
1 citations
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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
May 2005 in “Comparative and Functional Genomics” June 1999 in “Connective tissue” 7 citations
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March 2023 in “The Journal of Biochemistry” LONRF1 is important for oxidative damage response and tissue remodeling during wound healing.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
60 citations
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November 2013 in “Development” Keratin 79 marks a new group of cells that are key for creating and repairing the hair follicle's structure.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
March 2026 in “Folia Histochemica et Cytobiologica” LTBP1 is a key regulator in diseases and a potential target for new treatments.
35 citations
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January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” CD98hc's role in skin health decreases with age.
23 citations
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
23 citations
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January 1986 Involucrin is crucial for skin cell maturation and protection.
April 2018 in “Journal of Investigative Dermatology” IL-9 increases skin cell movement but decreases their ability to invade, and this effect is controlled by cell contractility, not by MMPs.
11 citations
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August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
14 citations
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August 2014 in “The FASEB Journal” CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
15 citations
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November 2022 in “Cell Death and Disease” CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
November 2022 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by themselves.
2 citations
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October 2012 in “Experimental Dermatology” Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.