2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
47 citations
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September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
9 citations
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November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
45 citations
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July 2009 in “Journal of human genetics” A gene variation is linked to hair thickness in Asians.
15 citations
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August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
10 citations
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September 1997 in “Molecular carcinogenesis” Mirex seems to promote a unique group of skin cells different from those affected by another tumor promoter, TPA.
5 citations
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March 2005 in “Journal of The American Academy of Dermatology”
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
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.
3 citations
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January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
1 citations
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January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
10 citations
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November 2009 in “Pigment cell & melanoma research” The document concludes that MGRN1 affects mouse fur color by interfering with a receptor's signaling, but its full role in the body is still unknown.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
5 citations
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September 2018 in “International journal of genomics” Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
9 citations
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March 2009 in “Psychoneuroendocrinology” Certain gene variations are linked to better memory in healthy Chinese women.
36 citations
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March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
7 citations
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January 2019 in “Australasian Journal of Dermatology” A genetic marker linked to a type of hair loss was found in most patients studied.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
The transporter protein SH1446 in Staphylococcus hominis is key to underarm odor production.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
41 citations
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December 1988 in “Journal of Investigative Dermatology” May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.
130 citations
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January 2000 in “Nature biotechnology”