81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
65 citations
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March 2004 in “Journal of Clinical Investigation” Inhibiting ornithine decarboxylase may help prevent certain skin cancers.
39 citations
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February 2011 in “The Prostate/The prostate” Some men's prostate tissues have low enzyme levels due to genetic changes, possibly affecting treatment for prostate enlargement.
30 citations
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June 1993 in “The Journal of Cell Biology” The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
3 citations
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April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
16 citations
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January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
November 2024 in “Journal of Investigative Dermatology” 35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
December 2022 in “Acta Ophthalmologica” Dutasteride potentially improves cell survival and reduces retinal damage in retinitis pigmentosa.
50 citations
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December 2005 in “European Journal of Immunology” RXRα is crucial for proper immune response and links diet to immune function.
4 citations
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
25 citations
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May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
91 citations
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November 2008 in “Journal of biological chemistry/The Journal of biological chemistry” DGAT1 enzyme is crucial for healthy skin and hair by regulating retinoid levels.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Blocking mTORC1 activity with rapamycin could help increase hair pigmentation and growth, potentially reversing gray hair.
26 citations
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April 1996 in “Journal of Investigative Dermatology”
March 2005 in “Journal of The American Academy of Dermatology” Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.
4 citations
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January 2025 in “Translational Psychiatry” Remote photobiomodulation improves brain injury outcomes and behavior in rats.
88 citations
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August 2014 in “PLOS genetics” Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
A new easy-to-use biosensor was made to detect androgen receptor mRNA, which could help diagnose related conditions quickly.
September 2025 in “American Journal of Dermatopathology” PRAME is often present in Paget disease and could help in diagnosis, but more research is needed.
38 citations
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December 2009 in “Therapeutic Advances in Medical Oncology” The conclusion suggests that prostate cancer should be classified by castration status and that new therapies targeting androgen receptor signaling show promise.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
9 citations
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
March 2010 in “The Journal of Urology” Methylation of the 5-AR2 gene may cause resistance to Finasteride in BPH patients.
6 citations
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July 2005 in “Farmaco” A quick and simple method was created to identify minoxidil in hair-growth products using micellar electrokinetic capillary chromatography.
May 2026 in “ACS Catalysis” Efficient enzyme function relies on specific residue interactions and structural coordination.
January 2026 in “Advanced Science” Increasing XIAP and DDRGK1 can help prevent hearing loss from loud noise.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.