29 citations
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July 2013 in “The Journal of Sexual Medicine” Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.
31 citations
,
November 2015 in “PloS one” Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.
55 citations
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November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
74 citations
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July 1995 in “PubMed” Lowering homocyst(e)ine levels can reverse skin and hair lightening by restoring enzyme activity needed for pigmentation.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
83 citations
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April 1992 in “Journal of Biological Chemistry” Four-amino acid part makes enzyme sensitive to finasteride.
21 citations
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January 2021 in “Frontiers in Pharmacology” Thiopurines help treat IBD but require genetic testing to avoid side effects.
October 2023 in “Cell & bioscience” A special gene region controls the re-emergence of a primitive wool type in Merino sheep, improving their wool yield and adaptability.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
31 citations
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February 1997 in “The Journal of Clinical Endocrinology and Metabolism” People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
2 citations
,
May 2024 in “BMC Genomics” Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
10 citations
,
September 2004 in “PubMed” Vitamin D receptor FokI gene variation is not linked to alopecia areata.
January 2026 in “MDPI (MDPI AG)” The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
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.
February 2010 in “Journal of The American Academy of Dermatology” Methotrexate treatment for rheumatoid arthritis has a serious infection rate of about two per 100 patient-years.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
The number of CAG repeats in the androgen receptor gene doesn't significantly affect female pattern hair loss in the Han Chinese population.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
4 citations
,
December 2013 in “British Journal of Dermatology” ESR2 gene linked to female-pattern hair loss.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
Mutations in specific genes cause different types of ectodermal dysplasias.
April 2010 in “Dermatology Times”
January 2016 in “International Journal of Dermatology and Venereology” DNA methylation changes are linked to skin diseases with inflammation.
195 citations
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June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
20 citations
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April 2014 in “Autoimmunity” A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
48 citations
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April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.