6 citations
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November 2022 in “Antioxidants” OR2AT4 helps reduce aging and cell damage in human skin cells.
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February 2018 in “The Plant Journal” PLDζ2 and NPC4 have different roles in lipid changes and root hair growth in Arabidopsis under low phosphate, with PLDζ2 reducing root hair growth and NPC4 promoting it.
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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.
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June 2012 in “PloS one” A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
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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.
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
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February 1993 in “Journal of Biological Chemistry” KAP6 genes are conserved across species and active in hair follicles.
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August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
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March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
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June 2012 in “Stem Cells” TACE/ADAM17 is essential for maintaining healthy hair and hair follicle stem cells.
January 2024 in “JAAD case reports” MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
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June 1994 in “Journal of Investigative Dermatology” Alopecia areata in these mice is inherited, more common in young females, and can be treated with triamcinolone acetonide.
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January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
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May 2022 in “BMC Veterinary Research” lncRNAs play a key role in hair follicle development, affecting cashmere quality and yield.
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April 2020 in “medRxiv (Cold Spring Harbor Laboratory)” The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
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March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
November 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
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January 2020 in “Genes” The KRTAP21-2 gene affects wool length and quality in sheep.
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
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September 2011 in “British Journal of Dermatology” Epigenetic changes in blood cells may contribute to alopecia areata.