4 citations
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November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
344 citations
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May 2018 in “EMBO journal” Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
117 citations
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April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
1 citations
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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
10 citations
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December 1990 in “Archives of Dermatological Research” 10 citations
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January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
September 2020 in “Acta Scientific Cancer Biology” Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
15 citations
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April 2011 in “Biological Chemistry” Cathepsin E is crucial for normal skin cell differentiation and development.
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
28 citations
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July 2007 in “Development” TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
354 citations
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February 2011 in “Genes & Development” EZH1 and EZH2 are crucial for healthy hair growth and skin repair.
6 citations
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July 2021 in “Frontiers in Genetics” A gene variant causes a skin and hair disorder by disrupting protein balance.
12 citations
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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.
2 citations
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May 2022 in “Research Square (Research Square)” KGF-1 135 is a stable and effective alternative for treating oral mucositis.
January 2026 in “British Journal of Dermatology” ELF5 is essential for skin cell growth and maintenance.
3 citations
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August 2022 in “Archives animal breeding/Archiv für Tierzucht” Certain genetic changes in the KAP22-1 gene are linked to better wool quality in Egyptian sheep.
5 citations
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July 2014 in “Molecular Biology Reports”
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
83 citations
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May 2011 in “Experimental Dermatology” Sheep have 17 keratin genes, similar to humans, but with different expression patterns affecting wool and hair.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet2 and Tet3 enzymes are important for controlling hair growth and shape by affecting gene activity and DNA structure in hair follicles.
4 citations
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September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
January 2025 in “PLoS ONE” Elf5 controls skin cell growth and development, making it a potential target for skin treatments.
July 2012 in “European journal of cancer” MPA increases cancer spread by boosting Eph A2 activity.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
April 2023 in “Journal of Investigative Dermatology” Krox20 (Egr2) is important for the function of epithelial stem cells.
5 citations
,
May 2023 in “Microbial Cell Factories” A stable, active version of a growth factor was made in bacteria, showing promise for medical use.