48 citations
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March 2010 in “PloS one” C/EBPalpha and C/EBPbeta are crucial for normal skin and oil gland cell development in adult mice.
2 citations
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
11 citations
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January 2018 in “Acta dermato-venereologica” Researchers found specific genes in the part of hair follicles that could help treat hair disorders.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
1 citations
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January 2015 in “The Journal of Dermatology” Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
1 citations
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November 2025 in “Aging Cell” EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
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.
15 citations
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April 2011 in “Biological Chemistry” Cathepsin E is crucial for normal skin cell differentiation and development.
July 2008 in “VTechWorks (Virginia Tech)” PrPC is important for neural differentiation in cattle and mouse embryonic stem cells.
25 citations
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April 2008 in “Clinical and experimental dermatology” EFFC might be common but underreported.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
5 citations
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March 2017 in “Gene” CAP1 decreases the expression of a hair-related protein in young Tan sheep's skin.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
20 citations
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August 2020 in “Stem Cell Research & Therapy” miR-150 helps blood vessel cells develop and speeds up blood clot healing.
6 citations
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December 2011 in “Nature” The circadian clock in skin cells controls their growth and rest cycles.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
1 citations
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March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” NAC1 controls certain enzymes that reduce root hair growth in Arabidopsis.
69 citations
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January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
June 2023 in “Frontiers in Bioengineering and Biotechnology” The conclusion is that accurately replicating the complexity of the extracellular matrix in the lab is crucial for creating realistic human tissue models.
30 citations
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June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
January 2026 in “British Journal of Dermatology” ELF5 is essential for skin cell growth and maintenance.
822 citations
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January 2021 in “Genome biology” scMC effectively separates biological signals from technical noise in single-cell genomics data.
74 citations
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
1 citations
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July 2023 in “Communications biology” Removing Mediator 1 from certain mouse cells causes teeth to grow hair instead of enamel.
26 citations
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September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
106 citations
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March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
October 2025 in “DOAJ (DOAJ: Directory of Open Access Journals)” Changes in the cochlea's extracellular matrix contribute to age-related hearing loss.