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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
510 citations
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August 2006 in “Endocrinology” The vitamin D receptor is involved in multiple body functions beyond calcium regulation, including immune response and rapid reactions not related to gene activity.
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August 2005 in “Archives of Dermatological Research” HSPC016 gene is important for hair growth.
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June 2023 in “Human Genomics” MX1 and AR genes are linked to milder COVID-19, while TMPRSS2 increases severe risk, especially in women.
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January 2022 in “BMC Biology” Environmental factors affect reproductive traits by altering the SRD5A1 gene.
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
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September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
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August 2015 in “The Journal of Steroid Biochemistry and Molecular Biology” The vitamin D receptor can regulate genes and affect hair and hormone levels without its usual activator.
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
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November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Signals from skin cells controlled by Rac proteins help turn certain precursor cells into white fat cells.
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January 2007 in “Journal of biological chemistry/The Journal of biological chemistry” Stress activates a special function of the Vitamin D receptor with the help of c-Jun, which can also prevent cell death.
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October 2024 in “International Journal of Molecular Sciences” CRET therapy affects inflammation in skin cells by changing cytokine levels and activating certain proteins.
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August 2008 in “Reviews in endocrine and metabolic disorders” Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
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November 2021 in “Oncology Research and Treatment” Low Vitamin D receptor levels in breast cancer are linked to worse outcomes and more bone metastases, and could be a marker for prognosis.
January 2021 in “Deep Blue (University of Michigan)” Androgen receptors in the brain affect metabolism and reproduction differently in males and females, and may help manage PCOS symptoms in females.
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July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
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September 2017 in “Journal of Investigative Dermatology” Blocking a specific enzyme can reduce the negative impact of stress hormones on hair growth cells.
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December 2014 in “Cell Biochemistry and Function” Nuclear hormone receptors play a significant role in skin wound healing and could lead to better treatment methods.