2 citations
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February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
26 citations
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March 2006 in “Endocrine, metabolic & immune disorders. Drug targets” This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
May 2026 in “ACS Catalysis” Efficient enzyme function relies on specific residue interactions and structural coordination.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
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January 2011 in “International Journal of Cosmetic Science” 1,2,3,4-tetrahydroquinoline compounds are great for stable, pure blue hair dye.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
195 citations
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February 2005 in “Journal of biological chemistry/The Journal of biological chemistry” The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
28 citations
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October 2014 in “Development” Fz3 and Fz6 can partially replace each other in tissue polarity and axon guidance.
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
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June 2001 in “Bioorganic & Medicinal Chemistry” Changing the C-ring structure in certain compounds can make them better at blocking a specific human enzyme.
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
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June 2021 in “Developmental biology” Dermal EZH2 controls skin cell development and hair growth in mice.
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
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October 2004 in “Differentiation” Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
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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.
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
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January 2021 in “Theranostics” The targeted nanohybrids effectively reduced psoriasis symptoms and improved skin health.
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
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October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
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January 2018 in “Interdisciplinary sciences: computational life sciences” Accurate protein modeling can help develop new treatments for prostate cancer and other diseases.
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.