4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
252 citations
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November 1995 in “The EMBO Journal” Blocking EGFR in mice causes hair loss and skin changes.
February 2026 in “Pediatric Dermatology”
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October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
1 citations
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March 2024 in “Signal transduction and targeted therapy” NF-κB signaling is crucial in many diseases and can be targeted for new treatments.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
2 citations
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January 1960 in “Australian Journal of Biological Sciences” The Naked gene in mice causes abnormal sebaceous glands and disrupts hair follicle organization.
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September 2012 in “Oncogene”
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April 2018 in “Journal of Investigative Dermatology” Fzd2 is important for skin and hair development through various signaling ways.
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December 2003 in “Journal of Biological Chemistry” Epiprofin helps cells grow in developing teeth, hair, and limbs.
April 2019 in “Journal of Investigative Dermatology” Blocking LFA-1 prevents hair loss in mice.
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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.
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February 1991 in “Development” Fos protein is crucial for cell transition to cornification in keratinized tissues.
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January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
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June 1997 in “The American Journal of Human Genetics” 79 citations
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December 1999 in “Mechanisms of Development” Whn is crucial for hair growth in certain areas by controlling a specific gene.
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
225 citations
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April 2018 in “Journal of Investigative Dermatology” Two main types of fibroblasts with unique functions and additional subtypes were identified in human skin.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
14 citations
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April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
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June 2004 in “Development” FGF signaling is crucial for starting feather development in chicken embryos.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
46 citations
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August 2006 in “Mechanisms of Development” Runx1 is crucial for proper hair structure and development.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
10 citations
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December 2008 in “Molecular Carcinogenesis” The PML protein helps prevent skin cancer in mice.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
April 2025 in “International Journal of Dermatology” Renaming frontal fibrosing alopecia to a syndrome could improve diagnosis and treatment.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
8 citations
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October 2020 in “Stem cell research & therapy” DNMT1 helps turn hair follicle stem cells into fat cells by blocking a specific microRNA.