226 citations
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August 2006 in “Molecular and Cellular Biology” EGF signaling affects gene expression in skin cells, influencing hair growth and potentially cancer.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
33 citations
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October 2014 in “Veterinary Dermatology” Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
6 citations
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June 2021 in “Developmental biology” Dermal EZH2 controls skin cell development and hair growth in mice.
35 citations
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April 1998 in “PubMed” Activated erbB-2 in mice skin causes severe skin and hair abnormalities.
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.
August 2019 in “Journal of Invertebrate Pathology” Thymosin beta 4 protects cells from damage by blocking a harmful microRNA and boosting a protective gene.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
January 2007 in “Bristol Research (University of Bristol)” Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
January 2016 in “Institutional Repositories DataBase (IRDB)” Sebaceous glands help study fatty acid transporters and binding proteins.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
3 citations
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July 2017 in “Journal of Investigative Dermatology” SSEA-4 can distinguish between eccrine and apocrine sweat gland ducts.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
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.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
March 2016 in “Experimental Dermatology” EGFR helps hair follicles transition properly by controlling Stathmin levels.
109 citations
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October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing UBE2N from skin cells causes inflammation and immune response, which can be lessened with specific inhibitors.
7 citations
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September 1997 in “PubMed”
1 citations
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November 2023 in “Journal of neurology” A patient with a nerve disorder died from infection complications after developing insulin resistance from a treatment.
21 citations
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November 2009 in “Dermatologic Clinics” The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Hemoglobin α acts as an antioxidant in skin cells, especially protecting hair follicle stem cells from UV damage.
May 2010 in “Europe PMC (PubMed Central)” Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
3 citations
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September 2024 in “Journal of Microbiology and Biotechnology” Human placenta extract reduces inflammation and symptoms in atopic dermatitis.
19 citations
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April 1999 in “British Journal of Dermatology” Keratin 2e shows a unique pattern in developing fetal skin, different from other keratins.