43 citations
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May 1999 in “Journal of Biological Chemistry” Agouti protein affects melanocortin receptors through competitive antagonism and receptor down-regulation.
11 citations
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December 2018 in “Bone” Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
11 citations
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
1 citations
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April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
April 2018 in “Journal of Investigative Dermatology” High amphiregulin in the skin is a bad sign for acute graft-versus-host disease.
August 2024 in “British Journal of Dermatology” Rezpegaldesleukin shows promise for treating severe alopecia areata.
January 2016 in “Texas ScholarWorks (Texas Digital Library)” DORN1 receptor affects eATP-induced stomatal changes but not eADP in Arabidopsis thaliana.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” TYK2 inhibition may help treat alopecia areata by promoting hair growth and reducing immune response.
78 citations
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August 2012 in “Human molecular genetics online/Human molecular genetics” A new gene, JMJD1C, may affect testosterone levels in men.
11 citations
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November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
21 citations
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May 2023 in “The Journal of Allergy and Clinical Immunology In Practice” 18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
48 citations
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March 1993 in “The Laryngoscope” Cholesteatoma shows abnormal and increased EGF receptor expression, indicating its rapid growth.
April 2018 in “Journal of Investigative Dermatology” Ovol2 is important for proper skin healing and hair growth.
57 citations
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May 2014 in “Molecular Phylogenetics and Evolution” The research found how GPCR Class A Rhodopsin receptors are related and suggested possible substances they interact with.
January 2023 in “International Journal of Zoological Investigations” Certain genetic variations in IL-16 may increase the risk of alopecia areata.
15 citations
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December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
9 citations
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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.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
August 2019 in “Journal of Investigative Dermatology” Frog skin cells need the protein desmoplakin for proper development and cell layer formation.
232 citations
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July 1995 in “Nature Genetics”
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
9 citations
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August 2021 in “Biomedicines” 17β-estradiol boosts APE1/Ref-1 secretion in cells and mice via a calcium-dependent pathway.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” A specific genetic variation affects wool quality in sheep.
45 citations
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November 2012 The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
The KRTAP36-2 gene in sheep affects wool yield.
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.
July 2022 in “The Egyptian Journal of Hospital Medicine” Targeting IL-15 may help treat Alopecia Areata.