Showing 781 - 800 results of 1,178 for search '"Genetic disorder', query time: 0.07s Refine Results
  1. 781

    Modulating DDAH/NOS Pathway to Discover Vasoprotective Insulin Sensitizers by Li Lai, Yohannes T. Ghebremariam

    Published 2016-01-01
    “…Insulin resistance syndrome (IRS) is a configuration of cardiovascular risk factors involved in the development of metabolic disorders including type 2 diabetes mellitus. In addition to diet, age, socioeconomic, and environmental factors, genetic factors that impair insulin signaling are centrally involved in the development and exacerbation of IRS. …”
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  2. 782

    Functional Properties of Human Stem Cell-Derived Neurons in Health and Disease by Jason P. Weick

    Published 2016-01-01
    “…These include new technologies such as direct conversion of somatic cell types into neurons and glia which may accelerate maturation and retain genetic hallmarks of aging. In addition, novel forms of genetic manipulations have brought human stem cells nearly on par with those of rodent with respect to gene targeting. …”
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  3. 783
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    Mycological Profile and Associated Factors Among Patients with Dermatophytosis in Astana, Kazakhstan by Alma Aimoldina, Ainura Smagulova, Gulnar Batpenova, Nellie Konnikov, Togzhan Algazina, Zulfiya Jetpisbayeva, Dinara Azanbayeva, Darkhan Amantayev, Vladimir Kiyan

    Published 2025-01-01
    “…This dermatophyte infection may be more serious in individuals with underlying somatic diseases, immunodeficiencies, endocrine disorders, or chronic illnesses. This study analyzed 313 patients with suspected dermatophytosis. …”
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  5. 785
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    Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism by Ragini Kondetimmanahalli, Jane Lynch, Gary Francis, Heather Gardner, Radhika Pillai

    Published 2025-01-01
    “…Screening laboratory studies for endocrine disorders, a skeletal survey if skeletal disproportion is evident, a karyotype or microarray (microarray favored if developmental delay is also present) and genetic testing for monogenic disorders will lead to a specific diagnosis in an additional subset of short children. …”
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  7. 787

    The impact of trauma and how to intervene: a narrative review of psychotraumatology over the past 15 years by Miranda Olff, Irma Hein, Ananda B. Amstadter, Cherie Armour, Marianne Skogbrott Birkeland, Eric Bui, Marylene Cloitre, Anke Ehlers, Julian D. Ford, Talya Greene, Maj Hansen, Nathaniel G. Harnett, Debra Kaminer, Catrin Lewis, Alessandra Minelli, Barbara Niles, Nicole R. Nugent, Neil Roberts, Matthew Price, Anthony N. Reffi, Soraya Seedat, Antonia V. Seligowski, Anka A. Vujanovic

    Published 2025-12-01
    “…Traumatic events may have a wide range of transdiagnostic mental and physical health consequences, not limited to posttraumatic stress disorder (PTSD). Research on genetic, molecular, and neurobiological influences show promise for further understanding underlying risk and resilience for trauma-related consequences. …”
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  8. 788
  9. 789

    Melanin-like nanoparticles slow cyst growth in ADPKD by dual inhibition of oxidative stress and CREB by Yongzhan Sun, Quan Zou, Huizheng Yu, Xiaoping Yi, Xudan Dou, Yu Yang, Zhiheng Liu, Hong Yang, Junya Jia, Yupeng Chen, Shao-Kai Sun, Lirong Zhang

    Published 2024-11-01
    “…Autosomal dominant polycystic kidney disease (ADPKD) is a chronic genetic disorder closely associated with increased oxidative stress and featured by the progressive enlargement of cysts originating from various segments of the renal tubules. …”
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  10. 790

    Evaluation of in-vitro and in-silico antidiabetic potential, glucose metabolism, antioxidant, cytotoxicity and phytochemical content of Ipomoea bolusiana Schinz and Ipomoea crassip... by Garland Kgosi More, Nolitha Nkobole, Charmy Twala, Sechaba Machedi, Tebogo Amos Moswetsa, Ramakwala Christinah Chokwe

    Published 2025-02-01
    “…Background: Diabetes Mellitus is a chronic metabolic disorder caused by genetic disorders and other factors such as the use of certain medications, pancreatic injury, and autoimmune diseases such as rheumatoid arthritis and high blood pressure. …”
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  11. 791

    Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review by Emad Bahashwan, Jaber Alfaifi, Sahar Elmaghawri Mohamed Moursi, Youssef Elbayoumi Soliman

    Published 2024-01-01
    “…Harlequin ichthyosis (HI) is a genetically inherited epidermal disorder due to the mutation of the ABCA12 gene, which is responsible for lipid transportation, and presents with large keratinised scales characterised by deep erythematous fissures, with ectropion and eclabium. …”
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  12. 792
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  15. 795

    Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome by Mohamed S. Al Riyami, Badria Al Ghaithi, Nadia Al Hashmi, Naifain Al Kalbani

    Published 2015-01-01
    “…Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal recessive inheritance. It results from genetic mutations of the AGXT gene, which is more common due to higher consanguinity rates in the developing countries. …”
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    The interplay of sex and genotype in disease associations: a comprehensive network analysis in the UK Biobank by Vivek Sriram, Jakob Woerner, Yong-Yeol Ahn, Dokyoon Kim

    Published 2025-01-01
    “…Analysis of pleiotropic contributions of two sexually-dimorphic single-nucleotide polymorphisms related to thyroid disorders further validated a distinct genetic architecture across sexes that influences associations, confirmed through examination of corresponding gene expression profiles from the GTEx Portal. …”
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  19. 799

    Prevalence of GCKR rs1260326 Variant in Subjects with Obesity Associated NAFLD and T2DM: A Case-Control Study in South Punjab, Pakistan by Tayyaba Nisar, Kashan Arshad, Zahid Abbas, Maira Ali Khan, Sohail Safdar, Rehan Sadiq Shaikh, Ali Saeed

    Published 2023-01-01
    “…This study was conducted to investigate the genetic association of the GCKR rs1260326 in NAFLD and T2DM in our population. …”
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  20. 800

    Drosophila Models of Parkinson's Disease: Discovering Relevant Pathways and Novel Therapeutic Strategies by Verónica Muñoz-Soriano, Nuria Paricio

    Published 2011-01-01
    “…Parkinson's disease (PD) is the second most common neurodegenerative disorder and is mainly characterized by the selective and progressive loss of dopaminergic neurons, accompanied by locomotor defects. …”
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