58 citations
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April 1998 in “Journal of biological chemistry/The Journal of biological chemistry” CYP2B12 enzyme in skin cells converts arachidonic acid into specific bioactive lipids.
11 citations
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April 2022 in “Biophysical Journal” Disulfide bonds in keratin fibers break more easily under stress, especially when wet, affecting fiber strength.
4 citations
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April 1955 in “Textile Research Journal” The effectiveness of reducing agents on hair fibers depends on their electrode potentials.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
2 citations
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July 2009 in “Mayo Clinic Proceedings” A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
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.
5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
11 citations
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February 2018 in “Amino acids” Copper and iron cause keratin damage in hair by converting methionine to homocysteine.
9 citations
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October 2008 in “Mutation research” N-acetyl-L-cysteine (NAC) can prevent DNA damage and protect cells from harm.
March 2026 in “Tissue Engineering and Regenerative Medicine” 51 citations
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December 2006 in “Mammalian Genome” 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.
June 2009 in “Mayo Clinic Proceedings” A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
232 citations
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July 1995 in “Nature Genetics” 49 citations
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January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” January 1964 in “OSTI OAI (U.S. Department of Energy Office of Scientific and Technical Information)” CXCL7 is essential for muscle repair by aiding early neutrophil infiltration.
8 citations
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August 2018 in “Journal of Investigative Dermatology” October 2021 in “Authorea (Authorea)” New hair perming method using tyrosine is gentler and can be done with a blow-dryer.
2 citations
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April 2018 in “Journal of Investigative Dermatology” Intralesional chemotherapy with 5-fluorouracil and methotrexate may worsen keratoacanthoma-type skin cancer in transplant patients.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
6 citations
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August 2016 in “Journal of Visualized Experiments” The CUBIC protocol allows detailed 3D visualization of proteins in mouse skin biopsies.
August 2024 in “Clinical Cosmetic and Investigational Dermatology” Enzyme injections can effectively treat epidermoid cysts without surgery.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.