85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
2 citations
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January 2020 in “BioMed Research International” Phaeodactylum tricornutum extract helps hair follicle cells grow by activating the ERK1/2 pathway.
2 citations
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July 2005 in “International Joint Conference on Artificial Intelligence” EREG therapy may help treat hair loss by promoting hair growth.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
8 citations
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April 1997 in “Experimental Dermatology” hHbl gene is active in hair shaft cells and some pilomatricomas.
12 citations
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February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
24 citations
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September 2019 in “Experimental cell research” BMP2 helps hair follicle stem cells become specialized by increasing PTEN, which causes autophagy.
May 2010 in “Europe PMC (PubMed Central)” Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
40 citations
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May 2005 in “Journal of Cell Science” Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
17 citations
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
39 citations
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November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” Fatp4 is crucial for healthy skin development and function.
37 citations
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January 1993 in “Journal of Investigative Dermatology” 9 citations
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February 2024 in “mBio” Biliverdin IXβ and IXδ help Pseudomonas aeruginosa adapt to chronic infections.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
4 citations
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July 2023 in “Frontiers in Microbiology” HGF combined with ADA is highly accurate for diagnosing tuberculous pleural effusion, especially in younger females.
September 2023 in “Çukurova medical journal (Online)/Çukurova medical journal” EZH2 levels decrease as fetuses develop and are higher in adult skin, which may affect skin growth and repair.
98 citations
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June 2008 in “Human mutation” A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
354 citations
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February 2011 in “Genes & Development” EZH1 and EZH2 are crucial for healthy hair growth and skin repair.
7 citations
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December 1970 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” 11 citations
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June 2010 in “Medical Molecular Morphology” 33 citations
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August 2009 in “Journal of Investigative Dermatology” Overexpressing the epigen gene in mice leads to enlarged sebaceous glands and greasy fur.
36 citations
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August 2011 in “Experimental Dermatology” Eccrine sweat gland's clear cells likely cause excessive sweating in hyperhidrosis.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
August 2019 in “Journal of Investigative Dermatology” The study found that tight junctions reach the top layer of the skin's stratum granulosum, not just the second top layer as previously thought.
3 citations
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February 2022 in “Journal of Dermatological Science” Early onset female hair loss is linked to lower hair density, scalp issues, and certain genetic factors.