15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
109 citations
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June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
May 2006 in “The Journal of Cell Biology” Keratin 17 is crucial for cell growth in wound healing by aiding protein synthesis.
June 1996 in “Journal of Dermatological Science”
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
10 citations
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September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
1 citations
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May 2024 in “Communications Biology” Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
September 2018 in “Fertility and Sterility” The HSD3B1 variant increases hair loss risk in overweight women with PCOS.
1 citations
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February 1991 in “Journal of Biological Chemistry” 27 citations
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April 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
3 citations
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December 2023 in “Aging” hsa_circ_0002980 can help stop liver cancer cells from growing and spreading.
3 citations
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February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
2 citations
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April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
19 citations
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September 2013 in “Psychoneuroendocrinology” Blocking CYP17A1 enzyme may help improve certain brain function issues related to dopamine.
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.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists created a detailed map of gene activity in different parts of human hair follicles.
35 citations
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April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
7 citations
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August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
2 citations
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December 2022 in “The Journal of Dermatology” Patients with hidradenitis suppurativa have higher levels of cell-free DNA in their blood.
21 citations
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December 2015 in “Development Growth & Differentiation” DHT is crucial for urethral formation, and its disruption can affect masculinization and lead to hypospadias.
165 citations
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February 2014 in “Phytotherapy Research” Myrtle has various health benefits and potential for medicine development.
61 citations
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June 2010 in “European Journal of Pharmaceutics and Biopharmaceutics” Cationic polymers improved liposome stability and increased skin absorption of aciclovir and minoxidil.
49 citations
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October 2014 in “International Scholarly Research Notices” Eclipta alba has many health benefits and contains compounds with potential for drug development.
43 citations
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July 2019 in “Stem Cells International” Advancements in creating skin grafts with biomaterials and stem cells are promising, but more research is needed for clinical application.