August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
46 citations
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May 1995 in “Proceedings of the National Academy of Sciences” A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
Mutations in specific genes cause different types of ectodermal dysplasias.
1 citations
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January 2008
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
21 citations
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September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
3 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
76 citations
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February 1993 in “Journal of Biological Chemistry” KAP6 genes are conserved across species and active in hair follicles.
31 citations
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March 2016 in “Journal of Investigative Dermatology” AKR1B10 enzyme may cause keloid scars and could be a treatment target.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
52 citations
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April 2013 in “Developmental Cell” Brg1 is crucial for hair growth and skin repair by maintaining stem cells and promoting regeneration.
38 citations
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November 2020 in “International journal of biochemistry & cell biology” Keratin proteins are essential for keeping the cells in the human colon healthy and stable.
August 2019 in “Journal of Investigative Dermatology” Frog skin cells need the protein desmoplakin for proper development and cell layer formation.
September 2023 in “HAL (Le Centre pour la Communication Scientifique Directe)” Peptide nanoparticles can effectively deliver CRISPR-Cas9 to target KRAS mutations in cancer.
318 citations
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October 1998 in “The Journal of Cell Biology” Keratin 17 is important for skin development and may help define skin cell types.
April 2023 in “Journal of Investigative Dermatology” Blocking casein kinase 1 in skin cells can help melanocyte precursors move better, potentially helping with conditions like vitiligo or gray hair.
8 citations
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August 1987 in “The Journal of Dermatology” BKN-1 antibody targets specific keratin in basal cell epithelioma and normal skin basal cells.
7 citations
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May 2022 in “Cancers” UC.145 may be a new biomarker for predicting gastric cancer.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
324 citations
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May 2002 in “Oncogene”
6 citations
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September 2020 in “Advanced Biology” Blue-light activation of TrkA improves hair-follicle stem cells' ability to become neurons and glial cells.
4 citations
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January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
33 citations
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August 2000 in “Experimental Cell Research” 98 citations
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December 2015 in “The Journal of Cell Biology” Keratin is crucial for skin barrier formation and affects mitochondrial function.
40 citations
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September 2010 in “Journal of Biological Chemistry” Keratin K80 is an ancient protein found in various tissues, important for cell structure and tissue differentiation.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Esrp1 is important for skin health by helping form and maintain the skin barrier.
144 citations
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March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
January 2019 in “Advances in stem cells and their niches” Krox20 is important for cell differentiation in the brain and hair follicles.
37 citations
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June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
January 2017 in “Journal of Chemical Biological and Physical Sciences” Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.