12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
2 citations
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October 2015 in “Human Gene Therapy” The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
January 2002 in “映像情報メディア学会技術報告” Some prostate cancers have gene changes that may affect treatment with certain drugs.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
37 citations
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December 2020 in “PLANT PHYSIOLOGY” A mutant FERONIA gene affects root hair growth at high temperatures.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
11 citations
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June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
26 citations
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December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
133 citations
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January 2009 in “Nature” Lgr5 and the vitamin D receptor are key in controlling skin inflammation and tumor risk in mice.
12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
39 citations
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March 2008 in “Journal of biological chemistry/The Journal of biological chemistry” GLI2 increases follistatin production in human skin cells.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
1 citations
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February 2021 in “Scholars international journal of anatomy and physiology” Different forms of FGF5 either promote or inhibit hair growth.
6 citations
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January 2020 in “International journal of biological sciences” Removing the ROBO4 gene in mice reduces skin inflammation and hair loss by affecting certain inflammation pathways and gene expression.
1 citations
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January 2019 in “British Poultry Science” VEGF and VEGFR-2 genes influence feather maturity, and specific genetic markers can improve chicken breeding.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
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.
40 citations
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December 2010 in “Human Genetics” 126 citations
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October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
13 citations
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
2 citations
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January 2019 in “Annals of Dermatology” Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
114 citations
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January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” Frizzled receptors are essential for various body development processes and maintaining certain body functions.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” Certain gene variations may increase the risk and severity of alopecia areata.