112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
18 citations
,
June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
694 citations
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April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
23 citations
,
August 2017 in “Genome” Gene expression affects fur development in rex rabbits.
July 2017 in “OPAL (Open@LaTrobe) (La Trobe University)” High-throughput LC-MS screening is effective for finding new autotaxin inhibitors for asthma treatment.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” Desmosomes are crucial for skin and heart development, and JNK may help regulate them.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
31 citations
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February 2007 in “Molecular Carcinogenesis” Overexpressing ATF3 in mice's epithelial cells may lead to oral cancer.
1 citations
,
January 2022 in “BMC Genomic Data” The study found that androgen receptors in skin cells mainly affect the focal adhesion pathway and control the caveolin-1 gene, with implications for new treatments for related diseases.
158 citations
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December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
Blocking CXCR4 may help treat hidradenitis suppurativa.
20 citations
,
August 2005 in “Journal of Cutaneous Pathology” The protein ARA70/ELE1 is involved in male pattern baldness, and lower levels of its short form may lead to hair thinning.
42 citations
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July 2007 in “Journal of Biological Chemistry” Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
December 2023 in “The Sri Lanka Journal of Dermatology” A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
6 citations
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January 2010 in “Neoplasma” Certain gene patterns in breast cancer are linked to how active hormone receptors are and could affect patient survival.
1 citations
,
January 2025 in “Frontiers in Oncology” REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
46 citations
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June 2015 in “Journal of Investigative Dermatology” Androgen receptor activity blocks Wnt/β-catenin signaling, affecting hair growth and skin cell balance.
February 2026 in “Advanced Science” Targeting the p300/AR axis may help treat polycystic ovary syndrome.
49 citations
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January 2010 in “Plant and Cell Physiology” LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.
309 citations
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June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
23 citations
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January 2014 in “International Journal of Biological Sciences” African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
1 citations
,
August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
4 citations
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January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
23 citations
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December 2013 in “Molecular cancer therapeutics” Breast cancer treatments work better with AR activation, improving results and reducing side effects.
79 citations
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January 2002 in “Nucleic Acids Research” BMP-2 activates the Dlx3 gene in mouse skin cells, important for hair and skin development.
4 citations
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August 2025 in “Plant Cell & Environment” Azospirillum brasilense promotes root hair growth in Arabidopsis by increasing auxin and activating specific genes.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.