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        385-396 of 538 results for 'Gene'

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        Host genetic factors in American cutaneous leishmaniasis: A critical appraisal of studies conducted in an endemic area of Brazil

        This paper reviews American cutaneous leishmaniasis (ACL) immunogenetics in the state of Bahia (BA), northeastern Brazil, highlighting the interacting roles... ...

        Research

        A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease

        We have revealed a novel SH2D1A gene mutation in a patient with XLP resulting in fulminant refractory EBV-driven HLH, which is a recognized severe complication ...

        Research

        DeepCAGE transcriptomics identify HOXD10 as a transcription factor regulating lymphatic endothelial responses to VEGF-C

        The role of HOXD10 in the regulation of VEGFR-3 signaling in lymphatic endothelial cells, and in the control of lymphangiogenesis and permeability ...

        Research

        Novel oncogenic PDGFRA mutations in pediatric high-grade gliomas

        The outcome for children with high-grade gliomas (HGG) remains dismal, with a 2-year survival rate of only 10% to 30%. ...

        Research

        Maternal Dietary Intake of Folate and Vitamins B6 and B12 During Pregnancy and Risk of Childhood Brain Tumors

        This Australia-wide study examines whether maternal intake of folate and vitamins B6 and B12 during pregnancy is associated with development of brain tumors... ...

        Research

        Ultraviolet radiation exposure and serum vitamin D levels in young children

        This paper examined the link between UV exposure and vitamin D production in young children to determine how long it takes for sun exposure to affect serum... ...

        Research

        The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

        This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme. ...

        Research

        Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital Microcephaly

        The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation. ...

        Research

        Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder

        CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder. ...

        Research

        Toxoplasma gondii infection is associated with mitochondrial dysfunction in-vitro

        Our results show perturbation of host mitochondrial function following T. gondii infection that likely impacts on pathogenesis of disease. ...

        Research

        Ovulation induction and subfertile untreated conception groups offer improved options for interpreting risks associated with ART

        To identify and characterise appropriate comparison groups for population studies of health outcomes in ART-conceived births: ovulation induction (OI), subfertile untreated and fertile natural conceptions. Our secondary objective was to examine whether known risks of pregnancy complications and adverse birth outcomes in ART births are elevated in comparison with subfertile (untreated and OI) conception groups. ...

        Research

        Mitochondrial mistranslation modulated by metabolic stress causes cardiovascular disease and reduced lifespan

        Changes in the rate and fidelity of mitochondrial protein synthesis impact the metabolic and physiological roles of mitochondria. Here we explored how environmental stress in the form of a high-fat diet modulates mitochondrial translation and affects lifespan in mutant mice with error-prone or hyper-accurate mitochondrial ribosomes. Intriguingly, although both mutations are metabolically beneficial in reducing body weight, decreasing circulating insulin and increasing glucose tolerance during a high-fat diet, they manifest divergent (either deleterious or beneficial) outcomes in a tissue-specific manner. ...

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