24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
5 citations
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June 2012 in “Journal of Investigative Dermatology” A new mouse model for vitiligo helps study immune responses and potential treatments.
July 2024 in “Journal of Investigative Dermatology” INTASYL is a promising, adaptable RNAi technology for treating skin cancers.
27 citations
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December 2013 in “Endocrinology” Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
31 citations
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July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
34 citations
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October 1975 in “Biochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis” 10 citations
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February 2022 in “Cancers” More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.
42 citations
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September 2012 in “PLoS ONE” Bezafibrate treatment improved skin and spleen health in aging mice but didn't extend lifespan.
1 citations
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
47 citations
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
3 citations
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June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
5 citations
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July 2014 in “Molecular Biology Reports” 20 citations
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March 2021 in “Cancers” Certain genetic variants increase the risk of aggressive prostate cancer.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
January 2026 in “BMC Veterinary Research” A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
6 citations
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October 1998 in “Experimental Dermatology” Normal skin results from interactions between EGF and the Tabby mutation.
4 citations
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September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
10 citations
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August 1998 in “Journal of Investigative Dermatology”
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.
12 citations
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June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
January 2004 in “Molecular biotechnology”
188 citations
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May 2009 in “Plant physiology” Researchers found 19 genes important for root hair growth in a plant called Arabidopsis.
187 citations
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December 2005 in “Experimental Dermatology” Estrogens can improve skin aging but carry risks; more research is needed on safer treatments.
47 citations
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July 2013 in “Pharmacological Reviews” Regenerative pharmacology, which combines drugs with regenerative medicine, shows promise for repairing damaged body parts and needs more interdisciplinary research.
45 citations
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April 2018 in “Nature Reviews Urology” Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.
36 citations
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October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
32 citations
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March 2019 in “Climacteric” Premature ovarian insufficiency (POI) can harm women's sexual health, and they may benefit from hormone therapy and counseling.