April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
226 citations
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May 2004 in “Journal of Biological Chemistry” Collagen XXII is a marker for tissue junctions, aiding in structural integrity and found in muscles, heart, skin, and arthritic joints.
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August 2000 in “Experimental Cell Research” 13 citations
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January 2018 in “Advances in experimental medicine and biology” A KRT32 gene variant causes loose anagen hair syndrome.
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
January 2025 in “Cell Communication and Signaling” CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
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July 1998 in “Journal of Investigative Dermatology” The 4C32 gene may help in mouse skin development and differentiation.
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
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April 1996 in “Journal of Investigative Dermatology” 30 citations
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February 2008 in “Journal of Investigative Dermatology”
Meis2 is essential for touch sensation and nerve function in mice.
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November 2011 in “Nature Communications” Wnt/β-catenin signaling is crucial for cell fusion in placental development.
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November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
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January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
Lhx2 helps retinal cells respond to signals for eye development.
32 citations
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January 2020 in “Journal of Molecular Histology” K31 can identify clear secretory cells in human sweat glands.
49 citations
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October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
April 2023 in “Journal of clinical and translational science” August 2021 in “The Journal of Physiology” NKCC1 transporters help control neuron excitability and inhibition.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
172 citations
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March 2019 in “The EMBO Journal” FERONIA and LRX proteins help control cell growth in plants by regulating vacuole expansion.
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February 2009 in “Journal of dermatological science” Pitx2 helps outer root sheath cells differentiate but can't start hair growth on its own.
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November 2011 in “Nature Neuroscience”
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.
January 2016 in “DOAJ (DOAJ: Directory of Open Access Journals)” Collagen XVII is important for cell functions and its absence can worsen cancer outcomes.