Showing 901 - 920 results of 1,178 for search '"Genetic disorder', query time: 0.09s Refine Results
  1. 901
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    Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations by Mehmet Gunduz, Ozlem Unal

    Published 2016-01-01
    “…Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. …”
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    Article
  3. 903

    Gene networks for use in metabolomic data analysis of blood plasma from patients with postoperative delirium by V. A. Ivanisenko, N. V. Basov, A. A. Makarova, A. S. Venzel, A. D. Rogachev, P. S. Demenkov, T.  V. Ivanisenko, M. A. Kleshchev, E. V. Gaisler, G. B. Moroz, V. V. Plesko, Y. S. Sotnikova, Y. V. Patrushev, V. V. Lomivorotov, N. A. Kolchanov, A. G. Pokrovsky

    Published 2023-12-01
    “…Employing gene network reconstruction, we perceived a set of 82 regulatory enzymes affiliated with the genetic coordination of the sphingolipid metabolism pathway. …”
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    Article
  4. 904

    The Role of the Innate Immune System in Alzheimer’s Disease and Frontotemporal Lobar Degeneration: An Eye on Microglia by Elisa Ridolfi, Cinzia Barone, Elio Scarpini, Daniela Galimberti

    Published 2013-01-01
    “…While short-term microglial activity has generally a neuroprotective role, chronic activation has been implicated in the pathogenesis of neurodegenerative disorders, including AD and FTLD. In this framework, the purpose of this review is to give an overview of clinical features, genetics, and novel discoveries on biomolecular pathogenic mechanisms at the basis of these two neurodegenerative diseases and to outline current evidence regarding the role played by activated microglia in their pathogenesis.…”
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    Article
  5. 905

    Neural Plasticity in Common Forms of Chronic Headaches by Tzu-Hsien Lai, Ekaterina Protsenko, Yu-Chen Cheng, Marco L. Loggia, Gianluca Coppola, Wei-Ta Chen

    Published 2015-01-01
    “…Headaches are universal experiences and among the most common disorders. While headache may be physiological in the acute setting, it can become a pathological and persistent condition. …”
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  6. 906

    A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset by Ján Necpál, Martin Stelzer, Silvia Koščová, Michal Patarák

    Published 2016-01-01
    “…Various neurodegenerative disorders are manifested with CBS as a clinical phenotype, including corticobasal degeneration (CBD), progressive supranuclear palsy, Alzheimer’s disease, and CJD. …”
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    Article
  7. 907

    Smoking and Pulmonary Fibrosis: Novel Insights by Katerina D. Samara, George Margaritopoulos, Athol U. Wells, Nikolaos M. Siafakas, Katerina M. Antoniou

    Published 2011-01-01
    “…However, the relationship between smoking and autoimmune disorders is still conflicting. Rheumatoid arthritis results from the interaction between genetic and environmental factors, while the best established environmental factor is tobacco smoking. …”
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    Article
  8. 908

    Design of a Savitzky-Golay Filter-Based vEMG-FES System by Ruikai Cao, Yixuan Sheng, Anqin Dong, Honghai Liu

    Published 2025-01-01
    “…It is evident that voluntary effort plays a crucial role in electrical stimulation rehabilitation, facilitating neuroplasticity enhancement in patients with neurological disorders. In this paper, we present a multichannel system designed for simultaneous functional electrical stimulation (FES) and volitional EMG (vEMG) acquisition using shared electrodes. …”
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    Article
  9. 909

    Modern methods of studying of human gastro-intestinal microflora by Ye. A. Poluektova, O. S. Lyashenko, O. S. Shifrin, A. A. Sheptulin, V. T. Ivashkin

    Published 2014-08-01
    “…New data on relation of disorders of microflora with diseases of cardio-vascular system, disorders of metabolism, autoimmune and allergic diseases have appeared. …”
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    Article
  10. 910

    Sexual Dysfunction in Asian Males with Type 2 Diabetes Mellitus by Vurmila Venggadasamy, Loon Shin Ho, Badariah Ahmad, Khalid Abdul Kadir

    Published 2021-12-01
    “…In men with diabetes, several issues may occur in SD, such as erectile dysfunction (ED), ejaculatory disorders, orgasmic disorders, and reduced libido. …”
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    Article
  11. 911

    True Lies: The Double Life of the Nucleotide Excision Repair Factors in Transcription and DNA Repair by Nicolas Le May, Jean-Marc Egly, Frédéric Coin

    Published 2010-01-01
    “…NER defects lead to three genetic disorders that result in predisposition to cancers, accelerated aging, neurological and developmental defects. …”
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  12. 912

    Emerging Role of Histone Acetyltransferase in Stem Cells and Cancer by Daniela Trisciuoglio, Marta Di Martile, Donatella Del Bufalo

    Published 2018-01-01
    “…Thus, it is unsurprising that alteration of protein acetylation is involved in human disease, including metabolic disorders and cancers. In this context, different hematological and solid tumors are characterized by deregulation of the protein acetylation pattern as a result of genetic or epigenetic changes. …”
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    Androgenetic Alopecia: A Review by Sebastine Oseghae Oiwoh, Ademola Olusegun Enitan, Olubola Titilope Adegbosin, Adeolu Oladayo Akinboro, Emmanuel Olaniyi Onayemi

    Published 2024-04-01
    “…It results from the interactions between hormonal, genetic and other factors which determine the extent of hair loss and associated disorders (psychosocial and cardiovascular). …”
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  15. 915

    Helicobacter pylori Infection, Chronic Inflammation, and Genomic Transformations in Gastric MALT Lymphoma by Magdalena Witkowska, Piotr Smolewski

    Published 2013-01-01
    “…This world-wide distributed bacteria is in charge of most cases of not only upper gastrointestinal tract disorders but also some of extragastric problems. Constant stimulation of the immune system causes a B-lymphocytes proliferation, which is considered to be responsible for the neoplastic transformation. …”
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    Targeting Mitochondrial Dysfunction in Cerebral Ischemia: Advances in Pharmacological Interventions by Igor Belenichev, Olena Popazova, Nina Bukhtiyarova, Victor Ryzhenko, Sergii Pavlov, Elina Suprun, Valentyn Oksenych, Oleksandr Kamyshnyi

    Published 2025-01-01
    “…Mitochondrial dysfunction can arise from genetic mutations, ischemic events, hypoxia, and other environmental factors. …”
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  18. 918

    Diagnostic Pitfalls in Newborns and Babies with Blisters and Erosions by Elke Nischler, Alfred Klausegger, Clemens Hüttner, Gabriele Pohla-Gubo, Anja Diem, Johann W. Bauer, Helmut Hintner

    Published 2009-01-01
    “…In addition, we provide an overview of the rational use and the limitations of laboratory procedures such as microbial testing, routine light microscopy, immunofluorescence antigen mapping, transmission electron microscopy, and molecular genetic analysis.…”
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