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.
11 citations
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
2 citations
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January 2004 in “Linchuang pifuke zazhi” ZD1839 can cause skin issues like acne and hair changes.
November 2011 in “ChemInform” 82 citations
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March 2013 in “PLoS ONE” Vemurafenib causes skin side effects similar to RASopathies, requiring regular skin checks and UVA protection.
17 citations
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December 2015 in “Bioorganic & Medicinal Chemistry” 3-tetrazolo steroidal analogs can strongly inhibit the enzyme linked to hair loss.
6 citations
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December 2022 in “Journal of Infection” The ACE1 gene variant doesn't affect long-COVID symptoms.
6 citations
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March 2005 in “The Journal of Urology” 6 citations
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April 2023 in “Current Issues in Molecular Biology” A specific gene variant may increase the risk of developing Alopecia Areata.
9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
September 2023 in “Journal of the American Academy of Dermatology” 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.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
124 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
March 2006 in “Hair transplant forum international” The document's conclusion cannot be provided because the document cannot be parsed.
21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
1 citations
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July 2020 in “Reviews in separation sciences” 3 citations
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June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
September 2002 in “Oncology Times” Promising cancer treatments were found, but the manufacturer closed.
January 2018 in “Genetic engineering & biotechnology news” A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
7 citations
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March 2000 in “CRC Press eBooks” November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)”
August 2023 in “MPPKI (Media Publikasi Promosi Kesehatan Indonesia) : The Indonesia journal of health promotion” The document's conclusion cannot be provided because the document is not available or cannot be parsed.
1 citations
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January 1996 in “Hair transplant forum international” The document's conclusion cannot be provided because the document is not available or cannot be parsed.
89 citations
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August 2008 in “Human genetics” The EDAR gene greatly affects hair thickness in Asian populations.
1 citations
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November 2023 in “SKIN The Journal of Cutaneous Medicine”