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Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations
Published 2016-01-01“…Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. …”
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903
Gene networks for use in metabolomic data analysis of blood plasma from patients with postoperative delirium
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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904
The Role of the Innate Immune System in Alzheimer’s Disease and Frontotemporal Lobar Degeneration: An Eye on Microglia
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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905
Neural Plasticity in Common Forms of Chronic Headaches
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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906
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset
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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907
Smoking and Pulmonary Fibrosis: Novel Insights
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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908
Design of a Savitzky-Golay Filter-Based vEMG-FES System
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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909
Modern methods of studying of human gastro-intestinal microflora
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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910
Sexual Dysfunction in Asian Males with Type 2 Diabetes Mellitus
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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911
True Lies: The Double Life of the Nucleotide Excision Repair Factors in Transcription and DNA Repair
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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912
Emerging Role of Histone Acetyltransferase in Stem Cells and Cancer
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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913
Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln)
Published 2025-04-01“…Adenylyl cyclase 5 (ADCY5)-related diseases are a rare group of genetic disorders that commonly present in childhood. …”
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914
Androgenetic Alopecia: A Review
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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915
Helicobacter pylori Infection, Chronic Inflammation, and Genomic Transformations in Gastric MALT Lymphoma
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
Published 2025-01-01“…Mitochondrial dysfunction can arise from genetic mutations, ischemic events, hypoxia, and other environmental factors. …”
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918
Diagnostic Pitfalls in Newborns and Babies with Blisters and Erosions
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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919
Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease
Published 2025-01-01Get full text
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