Read more about the article Metabolic and transcriptional elucidation of the carotenoid biosynthesis pathway in peel and flesh tissue of loquat fruit during on-tree development.
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Metabolic and transcriptional elucidation of the carotenoid biosynthesis pathway in peel and flesh tissue of loquat fruit during on-tree development.

Abstract Carotenoids are the main colouring substances found in orange-fleshed loquat fruits. The aim of this study was to unravel the carotenoid biosynthetic pathway of loquat fruit (cv. 'Obusa') in…

Continue ReadingMetabolic and transcriptional elucidation of the carotenoid biosynthesis pathway in peel and flesh tissue of loquat fruit during on-tree development.
Read more about the article Aqueous Solubility Enhancement for Bioassays of Insoluble Inhibitors and QSPR Analysis: A TNF-α Study.
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Aqueous Solubility Enhancement for Bioassays of Insoluble Inhibitors and QSPR Analysis: A TNF-α Study.

Abstract The aim of this study is to improve the aqueous solubility of a group of compounds without interfering with their bioassay as well as to create a relevant prediction…

Continue ReadingAqueous Solubility Enhancement for Bioassays of Insoluble Inhibitors and QSPR Analysis: A TNF-α Study.
Read more about the article European contribution to the study of ROS: A summary of the findings and prospects for the future from the COST action BM1203 (EU-ROS).
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European contribution to the study of ROS: A summary of the findings and prospects for the future from the COST action BM1203 (EU-ROS).

Abstract The European Cooperation in Science and Technology (COST) provides an ideal framework to establish multi-disciplinary research networks. COST Action BM1203 (EU-ROS) represents a consortium of researchers from different disciplines…

Continue ReadingEuropean contribution to the study of ROS: A summary of the findings and prospects for the future from the COST action BM1203 (EU-ROS).
Read more about the article Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN.
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Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN.

Abstract . Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression. Later-onset, more slowly progressive PKAN often presents with neuropsychiatric as…

Continue ReadingOpen-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN.
Read more about the article Preconception and prenatal genetic counselling.
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Preconception and prenatal genetic counselling.

Abstract Identifying individuals at risk of having children affected by genetic conditions or congenital anomalies allows counselling that aims to inform reproductive decisions. This process takes place either at the…

Continue ReadingPreconception and prenatal genetic counselling.
Read more about the article Epidemiology of Amyotrophic Lateral Sclerosis in the Republic of Cyprus: A 25-Year Retrospective Study.
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Epidemiology of Amyotrophic Lateral Sclerosis in the Republic of Cyprus: A 25-Year Retrospective Study.

Abstract Amyotrophic lateral sclerosis (ALS) is a rare, rapidly progressive neurodegenerative disease. Despite wide variability in the incidence and prevalence of ALS, there is evidence of positive temporal trends and…

Continue ReadingEpidemiology of Amyotrophic Lateral Sclerosis in the Republic of Cyprus: A 25-Year Retrospective Study.
Read more about the article Neuronal Expression of Truncated Tau Efficiently Promotes Neurodegeneration in Animal Models: Pitfalls of Toxic Oligomer Analysis.
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Neuronal Expression of Truncated Tau Efficiently Promotes Neurodegeneration in Animal Models: Pitfalls of Toxic Oligomer Analysis.

Abstract Animal models of neurodegeneration induced by neuronal expression of truncated tau protein emerge as an important tool for understanding the pathogenesis of human tauopathies and for therapy development. Here…

Continue ReadingNeuronal Expression of Truncated Tau Efficiently Promotes Neurodegeneration in Animal Models: Pitfalls of Toxic Oligomer Analysis.
Read more about the article PRACTICE OF CONSANGUINITY AND ATTITUDES TOWARDS RISK IN THE PASHTUN POPULATION OF KHYBER PAKHTUNKHWA, PAKISTAN.
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PRACTICE OF CONSANGUINITY AND ATTITUDES TOWARDS RISK IN THE PASHTUN POPULATION OF KHYBER PAKHTUNKHWA, PAKISTAN.

Abstract SummaryThis study aimed to investigate the frequency of consanguineous marriages and level of understanding of consanguinity-associated genetic risks in the Pashtun population, Pakistan. Information was gathered using a detailed…

Continue ReadingPRACTICE OF CONSANGUINITY AND ATTITUDES TOWARDS RISK IN THE PASHTUN POPULATION OF KHYBER PAKHTUNKHWA, PAKISTAN.
Read more about the article Hierarchical cortical transcriptome disorganization in autism.
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Hierarchical cortical transcriptome disorganization in autism.

Abstract Autism spectrum disorders (ASD) are etiologically heterogeneous and complex. Functional genomics work has begun to identify a diverse array of dysregulated transcriptomic programs (e.g., synaptic, immune, cell cycle, DNA…

Continue ReadingHierarchical cortical transcriptome disorganization in autism.
Read more about the article Variations in the 3’UTR of the Gene in Heterozygous Females with Hyperandrogenaemia.
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Variations in the 3’UTR of the Gene in Heterozygous Females with Hyperandrogenaemia.

Abstract Heterozygosity for mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed to seek evidence on the phenotype-genotype correlation in female…

Continue ReadingVariations in the 3’UTR of the Gene in Heterozygous Females with Hyperandrogenaemia.