April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
November 2003 in “Journal of Investigative Dermatology” Topical Imiquimod may fight vascular tumors by affecting blood vessels or the immune system, low iron might be linked to some hair loss, removing the top skin layer helps vitamin C get in, genetic testing helps diagnose skin conditions, and too much iron could worsen skin inflammation.
May 2003 in “Journal of Investigative Dermatology” The meeting covered advances in understanding hair growth, causes of hair loss, and potential treatments.
32 citations
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November 2016 in “Journal of Dental Research” Pannexin 3 is important for bone formation and the development of bone cells.
4 citations
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January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
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.
33 citations
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August 2000 in “Experimental Cell Research” A KRT32 gene variant causes loose anagen hair syndrome.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
January 2025 in “Cell Communication and Signaling” CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
1 citations
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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.
25 citations
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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.
13 citations
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January 2018 in “Advances in experimental medicine and biology” Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
Meis2 is essential for touch sensation and nerve function in mice.
22 citations
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July 1998 in “Journal of Investigative Dermatology” The 4C32 gene may help in mouse skin development and differentiation.
Lhx2 helps retinal cells respond to signals for eye development.
1 citations
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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.
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 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
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.
32 citations
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January 2020 in “Journal of Molecular Histology” K31 can identify clear secretory cells in human sweat glands.
3 citations
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October 2021 in “Neuroscience Letters”
101 citations
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November 2011 in “Nature Communications” Wnt/β-catenin signaling is crucial for cell fusion in placental development.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.