January 2015 in “OpenBU/Boston University Institutional Repository (Boston University)” Neuropilin 2 may be a biomarker for melanoma and affects melanocyte behavior.
28 citations
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September 1998 in “Journal of Investigative Dermatology” Two distinct caspases in human skin help with cell death and skin formation.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
CCC1 is essential for ion balance and proper plant cell function.
11 citations
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
24 citations
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August 2017 in “Prostaglandins & Other Lipid Mediators” CRTH2 antagonists might be useful for treating many conditions because they play a role in immune and inflammation responses.
September 2023 in “Frontiers in cell and developmental biology” Vav2 changes how hair follicle stem cells' genes work as they age, which might improve regeneration but also raise cancer risk.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
April 2017 in “Journal of Investigative Dermatology” The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
January 2008 in “OhioLink ETD Center (Ohio Library and Information Network)” SARMs work differently in tissues due to unique interactions and structures.
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May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
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June 2000 in “Japanese Journal of Cancer Research” Dimethylarsinic acid speeds up skin tumor growth in certain mice.
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August 2014 in “Biochemical and Biophysical Research Communications” ODC overexpression in hair cells increases tumor growth by reducing Notch signaling.
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August 2017 in “PLoS ONE” 61 functional keratin genes were identified in dogs and horses, leading to updated gene annotations.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
201 citations
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May 2001 in “Proceedings of the National Academy of Sciences” Overexpression of COX-2 in mice skin causes abnormal skin and hair development.
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January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
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September 2008 in “Developmental biology” Retinoic acid-binding proteins in skin are regulated by β-catenin and Notch signalling.
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June 2005 in “Journal of Investigative Dermatology” PAD enzymes play a key role in hair growth and structure.
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April 2003 in “Journal of Investigative Dermatology” Four specific keratins in hair follicles help understand hair structure and function.
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June 2011 in “The EMBO Journal” TCF/Lef1 activity is essential for proper skin cell development and renewal.
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December 1991 in “Annals of the New York Academy of Sciences” SMAD4 is crucial for muscle repair in young adults but not in aged mice.
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October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
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February 1991 in “Development” Fos protein is crucial for cell transition to cornification in keratinized tissues.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
March 2025 in “International Journal of Molecular Sciences” PLIN2 affects hair growth in cashmere goats, potentially improving cashmere quality.
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July 2022 in “Journal of Biological Chemistry” WWP2 is crucial for tooth development in mice.
5 citations
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October 2022 in “Biology” CAP1 helps Arabidopsis plants grow better under ammonium stress.