48 citations
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January 2003 in “Fertility and Sterility” In this study, researchers found no significant association between the D19S884 marker near the insulin receptor gene and polycystic ovary syndrome in women from Spain and Italy.
July 2024 in “Reactions Weekly” January 2024 in “Skin Appendage Disorders” 11 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
13 citations
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January 2009 in “The Open Dermatology Journal” This article describes a case of oral pigmentation that posed a diagnostic challenge in determining Addison’s disease and includes a brief review, reporting no new clinical results.
March 2019 in “Reactions Weekly” 9 citations
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July 2022 in “Journal of Clinical Oncology” This study found that oral paclitaxel combined with encequidar improved tumor response rates compared to intravenous paclitaxel in women with metastatic breast cancer, while also reducing neuropathy but increasing certain gastrointestinal and neutropenic side effects.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
76 citations
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January 1998 in “Mammalian Genome”
January 2016 in “Human & Experimental Toxicology” This study reported that CCT oligodeoxynucleotide induced patchy hair loss in male mice with specific genetic traits, suggesting gender and genetic preferences in immune response.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that stimulating olfactory receptors in human hair follicles with Sandalore® increases antimicrobial activity by upregulating dermcidin production, potentially offering a novel approach for treating hair follicle diseases with bacterial issues.
75 citations
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January 2004 in “Molecular and Cellular Biology” In this study, EDA-A2 transgenic mice exhibited multifocal myodegeneration dependent on XEDAR, suggesting a potential role for XEDAR in skeletal muscle homeostasis.
81 citations
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July 2012 in “Translational Psychiatry” In this pilot study, no significant differences were observed between memantine and placebo groups in young adults with Down syndrome on the primary memory outcomes, but some improvement was noted in a secondary measure.
1 citations
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January 2011 in “ScholarlyCommons (University of Pennsylvania)” In this study, researchers investigating the Drosophila testis niche system reported that Notch signaling is crucial for niche cell specification, with early gonadogenesis showing signals coming from outside the gonad to direct cell fate.
March 2024 in “Biochimica et biophysica acta. Molecular basis of disease” This study found that deferoxamine may protect against sensorineural hearing loss by reducing oxidative stress-induced hair cell death through iron chelation and activation of the Nrf2 signaling pathway in lab models.
October 2024 in “Journal of the Endocrine Society” This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.
January 1994 in “Toxicological Sciences” This study found that chronic high dosages of 2-(difluoromethyl)-dl-ornithine caused various toxicities in rats and dogs, with some effects potentially minimized at lower dosages.
This study found that activation of delta-opioid receptors in keratinocytes may delay the expression of the PER2 gene, suggesting a possible link to cancer development through circadian rhythm disruption.
April 2017 in “Journal of Investigative Dermatology” This study found that the PON1 192 R allele was associated with an increased risk of psoriasis and altered lipid profiles in patients from Western Mexico.
January 2004 in “Online Publication Service of Würzburg University (Würzburg University)” This study found that women with PCOS have higher activity of the enzyme 5alpha-reductase, which may contribute to their elevated androgen levels.
14 citations
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February 1991 in “FEBS Letters” This study found that introducing rat ornithine transcarbamylase gene into spf-ash mice improved liver and intestinal enzyme activity and normalized some metabolic indicators.
20 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This paper presents two cases of rare intraorbital ophthalmic artery aneurysms associated with arteriovenous malformations and discusses their clinical presentation, pathogenesis, and management, but reports no new clinical outcomes.
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This report provides an overview of polycystic ovarian disease, discussing its causes, symptoms, and management strategies, but presents no new clinical findings.
4 citations
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February 2023 in “Research Reports in Clinical Cardiology” This study found that the ACE gene DD genotype and D allele are linked to an increased risk of hypertensive IHD complications, with dyslipidemia also identified as a significant risk factor for ischemic heart disease.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
6 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This case report indicates that retinoblastoma can occur in a microphthalmic eye and recommends using multiple imaging techniques due to potential differences in calcification visibility.
21 citations
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November 2017 in “Cochrane library” This study concluded that laparoscopic ovarian drilling does not clearly improve menstrual regularity or androgenic symptoms in PCOS compared to most medical treatments, but it may have fewer gastrointestinal side effects than metformin plus clomiphene.
13 citations
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December 2001 in “Journal of Investigative Dermatology” This study demonstrated that the tracheal xenotransplant procedure is an effective technique for assessing the invasiveness of epidermal keratinocytes and studying factors affecting hair follicle formation.
37 citations
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June 2002 in “The Laryngoscope” This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.
November 2023 in “Scientific reports” This study presents the first report on cloning and characterizing the full-length cDNA of SRD5A1 in Indian catfish (Clarias magur), revealing expression differences across reproductive phases and increased expression post-Ovatide administration in ovaries and testis.