24 citations
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July 2017 in “Structure” FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
2 citations
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July 2021 in “UNC Libraries” Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
227 citations
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January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
67 citations
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
20 citations
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July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
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.
12 citations
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February 2023 in “Applied and Environmental Microbiology” Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
23 citations
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December 2013 in “Molecules” N13-substituted evodiamine derivatives improved anticancer activity and solubility, showing promise for drug development.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
6 citations
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March 1996 in “Journal of Investigative Dermatology”
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
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.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
8 citations
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
3 citations
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January 2009 in “Sen'i Gakkaishi” Using both TGA and DTDG in hair straightening reduces hair damage compared to using TGA alone.