Showing 141 - 160 results of 180 for search '"Genetic disorder', query time: 0.07s Refine Results
  1. 141

    Advances in regenerative medicine-based approaches for skin regeneration and rejuvenation by Nathalia Silva Dutra Alves, Gustavo Roncoli Reigado, Mayara Santos, Izabela Daniel Sardinha Caldeira, Henrique dos Santos Hernandes, Bruna Leticia Freitas-Marchi, Elina Zhivov, Felipe Santiago Chambergo, Viviane Abreu Nunes

    Published 2025-02-01
    “…These methods hold promise for treating a range of conditions, from chronic wounds and burns to age-related skin changes and genetic disorders. Challenges remain in optimizing these therapies for broader accessibility and ensuring long-term safety and efficacy.…”
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  2. 142

    How endocrine disruptors affect fish reproduction on multiple levels: A review by Socha Magdalena, Chyb Jarosław, Suder Aleksandra, Bojarski Bartosz

    Published 2024-09-01
    “…., hormonal disruption in the HPG axis, gametogenesis disorders, disturbed embryogenesis, etc.). Even at low concentrations, EDCs can exhibit reproductive toxicity in fishes. …”
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  3. 143

    The corpus callosum in people with congenital adrenal hyperplasia (CAH) by Eileen Luders, Debra Spencer, Caitlin Dale, Ieuan A. Hughes, Ajay Thankamony, Umasuthan Srirangalingam, Helena Gleeson, Helen Simpson, Melissa Hines, Florian Kurth

    Published 2025-02-01
    “…Abstract Congenital Adrenal Hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands. …”
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  4. 144
  5. 145

    Topical steroids as alternative to systemic hormonal treatment for inflammatory bowel diseases in pediatric practice by E. N. Fedulova, O. V. Shumilova, O. V. Fedorova, O. A. Tutina, G. V. Medyantseva

    Published 2011-05-01
    “…Etiopathogenesis of IBD represents the cascade of self-maintaining pathophysiological reactions: adaptive microcirculational, hypoxicmetabolic, autoimmune inflammatory and dysbiotic disorders emerging on a background of genetic features of the body under the effect of unfavorable environmental factors. …”
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  6. 146

    Narrative Literature Review of Potential Atrial Fibrillation Mechanism of Action Induced by Discontinuation of Benzodiazepines by Agnė Okulevičiūtė, Gabija Laubner Sakalauskienė

    Published 2023-11-01
    “…There is evidence that genetic diversity can influence the response to BZDs through GABA receptors. …”
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  7. 147

    The link between spreading depolarization and innate immunity in the central nervous system by Kadir Oguzhan Soylu, Muge Yemisci, Hulya Karatas

    Published 2025-02-01
    “…Genetic factors, particularly familial hemiplegic migraine (FHM), exacerbate neuroinflammatory responses to SD, leading to increased susceptibility and prolonged headache behaviors. …”
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  8. 148

    Caveolin Gene, a Possible Risk Factor for Metabolic Syndrome in Humans: A Systematic Review and Meta-Analysis by Mohadeseh Arefian, Sadegh Mazaheri-Tehrani, Maryam Yazdi, Roya Kelishadi

    Published 2025-01-01
    “…Background: Studies show that caveolin genes are associated with metabolic disorders, so we aimed to systematically review the association between caveolin genes and metabolic syndrome in human studies. …”
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  9. 149
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  11. 151

    Prevalence and spectrum of haemoglobinopathies in females of reproductive age group- A first tertiary care center experience in Punjab, North India by Vikram Narang, Anshul Jain, Sumit Grover, Ankita Soni, Monika Narang, Ashima Taneja

    Published 2023-07-01
    “…According to estimates, approximately 7% of the world population is a carrier of Hb disorders, leading to high morbidity and mortality. …”
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  12. 152
  13. 153

    Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study by Salam Al kindi, Salam Al kindi, Altaf Al-Mamari, Shoaib Al-Zadjali, Mohamed Al-Rawahi, Ali Al Madhani, Anil V. Pathare

    Published 2025-02-01
    “…X-linked sideroblastic anemia (XLSA) (MIM 300752) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors. …”
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  14. 154

    Impact of elexacaftor-tezacaftor-ivacaftor in lung transplantation for cystic fibrosis in the United States by Tahuanty A. Pena, MD, MS, Brittany Wright, PharmD, Kalpaj R. Parekh, MBBS, Julia Kleney-Tait, MD, PhD

    Published 2025-02-01
    “…These findings underscore the transformative impact of CFTR modulators like ETI on the natural history of CF, highlighting the importance of continued advancements in precision medicine for genetic disorders. Future studies should investigate long-term outcomes and sustained trends in lung transplantation needs among pwCF.…”
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  15. 155

    Direct and Indirect Methods for Studying Human Gut Microbiota by V. T. Ivashkin, O. S. Medvedev, E. A. Poluektova, A. V. Kudryavtseva, I. R. Bakhtogarimov, A. E. Karchevskaya

    Published 2022-08-01
    “…Currently, molecular genetic methods are used mainly for basic research and do not have a unified protocol for data analysis, which makes it difficult to implement them in clinical practice. …”
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  16. 156

    Genomic analysis and replication kinetics of the closely related EHV-1 neuropathogenic 21P40 and abortigenic 97P70 strains by Eslam Mohamed, Ines Zarak, Nick Vereecke, Sebastiaan Theuns, Kathlyn Laval, Hans Nauwynck

    Published 2025-01-01
    “…Both strains exhibited a nucleotide identity of 99.96%, with only seven genetic mutations in ORFs 13, 24, 30, 32, 40, 65, and 71. …”
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  17. 157

    Transitioning from wet lab to artificial intelligence: a systematic review of AI predictors in CRISPR by Ahtisham Fazeel Abbasi, Muhammad Nabeel Asim, Andreas Dengel

    Published 2025-02-01
    “…This groundbreaking technology holds immense potential for the development of targeted therapies for a wide range of diseases, including cancers, genetic disorders, and hereditary diseases. CRISPR-Cas9 based genome editing is a multi-step process such as designing a precise gRNA, selecting the appropriate Cas protein, and thoroughly evaluating both on-target and off-target activity of the Cas9-gRNA complex. …”
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  18. 158

    Clinical and endoscopical and morphofunctional scores in evaluation of development of gastroesophageal reflux disease in various age groups by M. A. Osadchuk, A. M. Zolotovitskaya, N. V. Kireyeva, S. N. Nikolenko, I. M. Kvetnoy

    Published 2012-09-01
    “…Thus in age aspect these disorders aggravate and total disturbance of neurohumoral regulation of the upper parts of the gut that determines extraesophageal manifestations of GERD is observed. …”
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  19. 159

    Advancements in the Treatment of Mucopolysaccharidoses: From Established Therapies to Gene Therapy by Joanna Wanat, Wojciech Homa, Aleksandra Warunek, Gabriela Gronowicz, Izabela Dzikowska, Agata Siejka, Daria Stefaniak, Weronika Zielińska, Michał Chról

    Published 2025-02-01
    “… Introduction and purpose Mucopolysaccharidoses (MPS), a subset of inborn errors of metabolism (IEM), are genetic disorders requiring pediatricians to recognize non-specific symptoms and carefully monitor newborns. …”
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  20. 160

    A guide to selecting high-performing antibodies for Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PPP2R5D) for use in Western Blot, immunoprecipi... by Carl Laflamme, Kathleen Southern, Riham Ayoubi, Maryam Fotouhi, Charles Alende

    Published 2024-07-01
    “…Pathogenic mutations in the PPP2R5D gene are linked to clinical symptoms characterized by neurodevelopmental delay, intellectual disability, and autism spectrum disorders. The etiology of these genetic disorders remains unknown, which can partly be due to the lack of independently characterized antibodies. …”
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