12 citations
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June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
23 citations
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July 2020 in “BMC Genomics” NCBP3, SDHA, and PTPRA are the best genes for accurate goat skin research.
100 citations
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December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
15 citations
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January 1991 in “Mammalian Genome” Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
26 citations
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December 2019 in “Stem Cell Reports” Proper tissue repair in adult skin requires specific histone hypomethylation.
3 citations
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April 2023 in “Frontiers in Pharmacology” ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.
76 citations
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June 2018 in “EMBO Reports” YAP and TAZ proteins are necessary for the development of two types of skin cancer.
92 citations
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January 2012 in “International Journal of Biological Sciences” The document introduced a new naming system for keratin-associated proteins to improve clarity and communication across species.
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
24 citations
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January 2018 in “Development” Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.
16 citations
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April 2024 in “Proceedings of the National Academy of Sciences” HDAC4 and HDAC7 are crucial for Th17 cell development and could be targeted to treat inflammatory diseases.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
17 citations
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June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
63 citations
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November 2009 in “British journal of dermatology/British journal of dermatology, Supplement” Sub3 is essential for fungus adherence but not for skin invasion.
17 citations
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April 2023 in “Aging” CNGA3, GLUD1, and SIRT1 are promising targets for treating aging and glioblastoma.
39 citations
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December 1998 in “Journal of Cell Science” The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.
178 citations
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May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
42 citations
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April 2021 in “JCI insight” Blocking JAK3 signaling can reverse hair loss from alopecia areata.
May 2025 in “Experimental Dermatology” A new genetic tool improves the study of hair growth and potential hair disorder treatments.
17 citations
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May 2018 in “BMC genomics” Researchers found genes and microRNAs that control curly fleece in Chinese Tan sheep.
April 2025 in “International Journal of General Medicine” The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
33 citations
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February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
August 2023 in “Journal of Investigative Dermatology” Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
January 2023 in “European journal of gynaecological oncology” KRT17 may be a new target for endometrial cancer treatment because it helps cancer cells move and form new blood vessels.
ERK activation spreads between cells in mouse skin, linked to cell division and influenced by TPA and EGF receptors.