September 2011 in “Urology” Biofeedback treatment for dysfunctional voiding in adults showed no symptom improvement.
13 citations
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February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
January 2025 in “Genetics in Medicine Open” A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Truncated LTBP-1 disrupts TGF-beta signaling, affecting hair growth.
January 2021 in “ABC Heart Failure & Cardiomyopathy” A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
Blocking the Mitochondrial Pyruvate Carrier causes stress in hair follicles, which can be reduced by an ISR inhibitor.
49 citations
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November 2019 in “Egyptian Journal of Medical Human Genetics” Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
December 2025 in “Zenodo (CERN European Organization for Nuclear Research)” Post-drug syndromes are often overlooked, and better systems and education are needed to improve drug safety.
January 2018 in “ScholarWorks @UVM (University of Vermont)” Selenium in proteins helps prevent over-oxidation and supports chemical reversibility.
September 2008 in “Pediatric Rheumatology” Two children with lysinuric protein intolerance showed symptoms similar to lupus.
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December 2017 in “Journal of pharmaceutical and biomedical analysis” The method effectively detects banned substances in urine for sports antidoping.
188 citations
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January 2022 in “PubMed” Advancements in understanding, diagnosing, and managing congenital adrenal hyperplasia have improved treatment and long-term outcomes.
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December 2016 in “Experimental cell research” The research found a way to identify and study skin cells with stem cell traits, revealing they behave differently in culture and questioning current stemness assessment methods.
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January 1994 in “Journal of hepatology” Cyclosporine A therapy changes sex hormone levels differently in pre-menopausal and post-menopausal women with primary biliary cirrhosis.
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March 2023 in “Journal of Ethnopharmacology” Jieduquyuziyin prescription helps treat SLE with atherosclerosis by improving cholesterol removal and reducing inflammation.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
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May 2009 in “Journal of child neurology” Valproic acid does not change biotinidase enzyme activity in children's blood.
January 2004 in “Indian Journal of Nephrology” 2 citations
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January 2012 HSA nanoparticles can improve tamoxifen delivery for breast cancer treatment, reducing side effects.
28 citations
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February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
232 citations
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June 1975 in “Journal of Steroid Biochemistry” Cyproterone acetate is effective for acne but less so for hirsutism and alopecia, with some side effects and quick menstrual cycle recovery after treatment.
48 citations
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April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
Apraglutide and N-acetylcysteine (NAC) show promise in reducing cytarabine's harmful effects on organs.
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April 2021 in “Oncology Times” Trodelvy™ helped some patients with advanced breast cancer, but had side effects.
1 citations
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November 2001 in “Acc Current Journal Review” Electron Beam Tomography (EBT) is a useful additional test to stress testing for detecting heart disease.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
8 citations
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May 2024 in “ACS Applied Materials & Interfaces” PCL nanoscaffold-based liver spheroids are effective for drug screening and studying liver toxicity.
4 citations
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June 2025 in “Medeniyet Medical Journal” TMPRSS2 is crucial for COVID-19 infection and is a potential target for treatment.
15 citations
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October 1970 in “Archives of disease in childhood” Hair amino acid levels can indicate metabolic disorders.
January 2018 in “Murdoch Research Repository (Murdoch University)” Improved genetic diagnosis of PCOS can lead to better patient outcomes.