2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
45 citations
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December 2006 in “Biopolymers” Permanent waving weakens hair by altering its protein structure.
15 citations
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April 2003 in “Journal of Dermatological Science” Gene differences may affect baldness treatment response in Korean men.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
30 citations
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October 2009 in “Journal of Veterinary Internal Medicine” A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
89 citations
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August 2008 in “Human genetics” The EDAR gene greatly affects hair thickness in Asian populations.
57 citations
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November 2006 in “International Journal of Cancer” A49T gene variant linked to higher prostate cancer risk, lower hormone levels, and slightly reduced balding risk.
The study found genetic variations in sheep linked to traits like milk production, growth, and health.
January 2024 in “Archives of Dermatological Research” Different types of male pattern baldness have unique inflammation-related protein patterns.
5 citations
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January 1981 Keratin proteins in hair are complex and come from multiple gene families.
51 citations
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September 2020 in “Cell Metabolism” Glutamine metabolism affects hair stem cell maintenance and their ability to change back to stem cells.
9 citations
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
Different androgen concentrations affect wool-related gene expression differently in Hetian and Karakul sheep breeds.
12 citations
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January 2018 in “Journal of Clinical Laboratory Analysis” Certain IL-18 gene variations may increase the risk of alopecia areata.
May 2017 in “Journal of The American Academy of Dermatology” PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
1 citations
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August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
60 citations
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January 2021 in “BMC Genomics” The study mapped genetic variations in sheep, linking them to traits like milk production and growth.
April 2026 in “BMC Genomics” Hair type differences in cashmere goats are linked to keratin and cytoskeletal organization.
2 citations
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August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
February 2024 in “Scientific reports” Four genes are potential markers for hair loss condition alopecia areata, linked to a specific type of cell death.
45 citations
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July 2009 in “Journal of human genetics” A gene variation is linked to hair thickness in Asians.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
29 citations
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August 2005 in “Biopolymers” L-cysteine slows down the breaking of bonds in hair due to electrostatic interactions.
August 2025 in “International Journal of Molecular Sciences” AVT is highly conserved and may have antimicrobial properties.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” 848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
16 citations
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September 1999 in “Journal of Investigative Dermatology Symposium Proceedings”
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
12 citations
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January 2013 in “International Journal of Genomics” The study identified key genes involved in goat hair growth.
174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.