The Experts below are selected from a list of 534 Experts worldwide ranked by ideXlab platform
Oguz Kul - One of the best experts on this subject based on the ideXlab platform.
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RESEARCH ARTICLE Increased Expressions of ADAMTS-13, Neuronal Nitric Oxide Synthase, and Neurofilament Correlate with Severity of Neuropathology in Border Disease Virus-
2016Co-Authors: Infected Small Ruminants, Gungor Cagdas Dincel, Oguz KulAbstract:Border Disease (BD), caused by Pestivirus from the family Flaviviridae, leads to serious re-productive losses and brain anomalies such as Hydranencephaly and cerebellar hypoplasia in aborted fetuses and neonatal lambs. In this report it is aimed to investigate the expression of neuronal nitric oxide synthase (nNOS), A Disintegrin And Metalloprotease with Throm-bospondin type I repeats-13 (ADAMTS-13), and neurofilament (NF) in the brain tissue in small ruminants infected with Border Disease Virus (BDV) and to identify any correlation be-tween hypomyelinogenesis and BD neuropathology. Results of the study revealed that the levels of ADAMTS-13 (p<0.05), nNOS (p<0.05), and NF (p<0.05) were remarkably higher in BDV-infected brain tissue than in the uninfected control. It was suggested that L-arginine-NO synthase pathway is activated after infection by BDV and that the expression of NF and nNOS is associated with the severity of BD. A few studies have focused on ADAMTS-13 ex-pression in the central nervous system, and its function continues to remain unclear. The most prominent finding from our study was that ADAMTS-13, which contain two CUB do-mains, has two CUB domains and its high expression levels are probably associated wit
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increased expressions of adamts 13 neuronal nitric oxide synthase and neurofilament correlate with severity of neuropathology in border disease virus infected small ruminants
PLOS ONE, 2015Co-Authors: Gungor Cagdas Dincel, Oguz KulAbstract:Border Disease (BD), caused by Pestivirus from the family Flaviviridae, leads to serious reproductive losses and brain anomalies such as Hydranencephaly and cerebellar hypoplasia in aborted fetuses and neonatal lambs. In this report it is aimed to investigate the expression of neuronal nitric oxide synthase (nNOS), A Disintegrin And Metalloprotease with Thrombospondin type I repeats-13 (ADAMTS-13), and neurofilament (NF) in the brain tissue in small ruminants infected with Border Disease Virus (BDV) and to identify any correlation between hypomyelinogenesis and BD neuropathology. Results of the study revealed that the levels of ADAMTS-13 (p<0.05), nNOS (p<0.05), and NF (p<0.05) were remarkably higher in BDV-infected brain tissue than in the uninfected control. It was suggested that L-arginine-NO synthase pathway is activated after infection by BDV and that the expression of NF and nNOS is associated with the severity of BD. A few studies have focused on ADAMTS-13 expression in the central nervous system, and its function continues to remain unclear. The most prominent finding from our study was that ADAMTS-13, which contain two CUB domains, has two CUB domains and its high expression levels are probably associated with the development of the central nervous system (CNS). The results also clearly indicate that the interaction of ADAMTS-13 and NO may play an important role in the regulation and protection of the CNS microenvironment in neurodegenerative diseases. In addition, NF expression might indicate the progress of the disease. To the best of the authors’knowledge, this is the first report on ADAMTS-13 expression in the CNS of BDV-infected small ruminants.
J P Fryns - One of the best experts on this subject based on the ideXlab platform.
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two siblings with early onset fetal akinesia deformation sequence and Hydranencephaly further evidence for autosomal recessive inheritance of Hydranencephaly fowler type
American Journal of Medical Genetics, 2002Co-Authors: Ingrid Witters, Ph Moerma, Koenraad Devriend, D Van Schoubroeck, F A Van Assche, J P FrynsAbstract:We report a 13-week-old female fetus with early onset fetal akinesia deformation sequence (FADS) and Hydranencephaly. In a previous pregnancy, the same ultrasonographic findings were noted at 13 weeks. Fetopathological examination of both female fetuses confirmed FADS with severe arthogryposis, multiple pterygia, and muscular hypoplasia. Neuropathological examination showed massive cystic dilatation of the cerebral ventricles (Hydranencephaly) with calcification of the basal ganglion and brain stem and a proliferative vasculopathy throughout the central nervous system. The findings in the two female siblings document the earliest echographic diagnosis of Hydranencephaly, Fowler type, and this observation further supports autosomal recessive inheritance of this distinct type of Hydranencephaly. © 2002 Wiley-Liss, Inc.
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two siblings with early onset fetal akinesia deformation sequence and Hydranencephaly further evidence for autosomal recessive inheritance of Hydranencephaly fowler type
American Journal of Medical Genetics, 2002Co-Authors: Ingrid Witters, D Van Schoubroeck, F A Van Assche, Koenraad Devriendt, Ph. Moerman, P Braet, J P FrynsAbstract:We report a 13-week-old female fetus with early onset fetal akinesia deformation sequence (FADS) and Hydranencephaly. In a previous pregnancy, the same ultrasonographic findings were noted at 13 weeks. Fetopathological examination of both female fetuses confirmed FADS with severe arthogryposis, multiple pterygia, and muscular hypoplasia. Neuropathological examination showed massive cystic dilatation of the cerebral ventricles (Hydranencephaly) with calcification of the basal ganglion and brain stem and a proliferative vasculopathy throughout the central nervous system. The findings in the two female siblings document the earliest echographic diagnosis of Hydranencephaly, Fowler type, and this observation further supports autosomal recessive inheritance of this distinct type of Hydranencephaly.
Gungor Cagdas Dincel - One of the best experts on this subject based on the ideXlab platform.
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RESEARCH ARTICLE Increased Expressions of ADAMTS-13, Neuronal Nitric Oxide Synthase, and Neurofilament Correlate with Severity of Neuropathology in Border Disease Virus-
2016Co-Authors: Infected Small Ruminants, Gungor Cagdas Dincel, Oguz KulAbstract:Border Disease (BD), caused by Pestivirus from the family Flaviviridae, leads to serious re-productive losses and brain anomalies such as Hydranencephaly and cerebellar hypoplasia in aborted fetuses and neonatal lambs. In this report it is aimed to investigate the expression of neuronal nitric oxide synthase (nNOS), A Disintegrin And Metalloprotease with Throm-bospondin type I repeats-13 (ADAMTS-13), and neurofilament (NF) in the brain tissue in small ruminants infected with Border Disease Virus (BDV) and to identify any correlation be-tween hypomyelinogenesis and BD neuropathology. Results of the study revealed that the levels of ADAMTS-13 (p<0.05), nNOS (p<0.05), and NF (p<0.05) were remarkably higher in BDV-infected brain tissue than in the uninfected control. It was suggested that L-arginine-NO synthase pathway is activated after infection by BDV and that the expression of NF and nNOS is associated with the severity of BD. A few studies have focused on ADAMTS-13 ex-pression in the central nervous system, and its function continues to remain unclear. The most prominent finding from our study was that ADAMTS-13, which contain two CUB do-mains, has two CUB domains and its high expression levels are probably associated wit
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increased expressions of adamts 13 neuronal nitric oxide synthase and neurofilament correlate with severity of neuropathology in border disease virus infected small ruminants
PLOS ONE, 2015Co-Authors: Gungor Cagdas Dincel, Oguz KulAbstract:Border Disease (BD), caused by Pestivirus from the family Flaviviridae, leads to serious reproductive losses and brain anomalies such as Hydranencephaly and cerebellar hypoplasia in aborted fetuses and neonatal lambs. In this report it is aimed to investigate the expression of neuronal nitric oxide synthase (nNOS), A Disintegrin And Metalloprotease with Thrombospondin type I repeats-13 (ADAMTS-13), and neurofilament (NF) in the brain tissue in small ruminants infected with Border Disease Virus (BDV) and to identify any correlation between hypomyelinogenesis and BD neuropathology. Results of the study revealed that the levels of ADAMTS-13 (p<0.05), nNOS (p<0.05), and NF (p<0.05) were remarkably higher in BDV-infected brain tissue than in the uninfected control. It was suggested that L-arginine-NO synthase pathway is activated after infection by BDV and that the expression of NF and nNOS is associated with the severity of BD. A few studies have focused on ADAMTS-13 expression in the central nervous system, and its function continues to remain unclear. The most prominent finding from our study was that ADAMTS-13, which contain two CUB domains, has two CUB domains and its high expression levels are probably associated with the development of the central nervous system (CNS). The results also clearly indicate that the interaction of ADAMTS-13 and NO may play an important role in the regulation and protection of the CNS microenvironment in neurodegenerative diseases. In addition, NF expression might indicate the progress of the disease. To the best of the authors’knowledge, this is the first report on ADAMTS-13 expression in the CNS of BDV-infected small ruminants.
Mitsuhiro Kato - One of the best experts on this subject based on the ideXlab platform.
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Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.
Frontiers in neuroscience, 2015Co-Authors: Mitsuhiro KatoAbstract:Neuronal migration disorders are human (or animal) diseases that result from a disruption in the normal movement of neurons from their original birth site to their final destination during early development. As a consequence, the neurons remain somewhere along their migratory route, their location depending on the pathological mechanism and its severity. The neurons form characteristic abnormalities, which are morphologically classified into several types, such as lissencephaly, heterotopia, and cobblestone dysplasia. Polymicrogyria is classified as a group of malformations that appear secondary to post-migration development; however, recent findings of the underlying molecular mechanisms reveal overlapping processes in the neuronal migration and post-migration development stages. Mutations of many genes are involved in neuronal migration disorders, such as LIS1 and DCX in classical lissencephaly spectrum, TUBA1A in microlissencephaly with agenesis of the corpus callosum, and RELN and VLDLR in lissencephaly with cerebellar hypoplasia. ARX is of particular interest from basic and clinical perspectives because it is critically involved in tangential migration of GABAergic interneurons in the forebrain and its mutations cause a variety of phenotypes ranging from Hydranencephaly or lissencephaly to early-onset epileptic encephalopathies, including Ohtahara syndrome and infantile spasms or intellectual disability with no brain malformations. The recent advances in gene and genome analysis technologies will enable the genetic basis of neuronal migration disorders to be unraveled, which, in turn, will facilitate genotype-phenotype correlations to be determined.
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mutations of arx are associated with striking pleiotropy and consistent genotype phenotype correlation
Human Mutation, 2004Co-Authors: Mitsuhiro Kato, Soma Das, Kristin S Petras, Kunio Kitamura, Kenichirou Morohashi, Diane Abuelo, Mason Barr, Dominique Bonneau, Angela F BradyAbstract:We recently identified mutations of ARX in nine genotypic males with X-linked lissencephaly with abnormal genitalia (XLAG), and in several female relatives with isolated agenesis of the corpus callosum (ACC). We now report 13 novel and two recurrent mutations of ARX, and one nucleotide change of uncertain significance in 20 genotypic males from 16 families. Most had XLAG, but two had Hydranencephaly and abnormal genitalia, and three males from one family had Proud syndrome or ACC with abnormal genitalia. We obtained detailed clinical information on all 29 affected males, including the nine previously reported subjects. Premature termination mutations consisting of large deletions, frameshifts, nonsense mutations, and splice site mutations in exons 1 to 4 caused XLAG or Hydranencephaly with abnormal genitalia. Nonconservative missense mutations within the homeobox caused less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome. A nonconservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. In addition, several less severe phenotypes without malformations have been reported, including mental retardation with cryptogenic infantile spasms (West syndrome), other seizure types, dystonia or autism, and nonsyndromic mental retardation. The ARX mutations associated with these phenotypes have included polyalanine expansions or duplications, missense mutations, and one deletion of exon 5. Together, the group of phenotypes associated with ARX mutations demonstrates remarkable pleiotropy, but also comprises a nearly continuous series of developmental disorders that begins with Hydranencephaly, lissencephaly, and agenesis of the corpus callosum, and ends with a series of overlapping syndromes with apparently normal brain structure.
Ingrid Witters - One of the best experts on this subject based on the ideXlab platform.
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two siblings with early onset fetal akinesia deformation sequence and Hydranencephaly further evidence for autosomal recessive inheritance of Hydranencephaly fowler type
American Journal of Medical Genetics, 2002Co-Authors: Ingrid Witters, Ph Moerma, Koenraad Devriend, D Van Schoubroeck, F A Van Assche, J P FrynsAbstract:We report a 13-week-old female fetus with early onset fetal akinesia deformation sequence (FADS) and Hydranencephaly. In a previous pregnancy, the same ultrasonographic findings were noted at 13 weeks. Fetopathological examination of both female fetuses confirmed FADS with severe arthogryposis, multiple pterygia, and muscular hypoplasia. Neuropathological examination showed massive cystic dilatation of the cerebral ventricles (Hydranencephaly) with calcification of the basal ganglion and brain stem and a proliferative vasculopathy throughout the central nervous system. The findings in the two female siblings document the earliest echographic diagnosis of Hydranencephaly, Fowler type, and this observation further supports autosomal recessive inheritance of this distinct type of Hydranencephaly. © 2002 Wiley-Liss, Inc.
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two siblings with early onset fetal akinesia deformation sequence and Hydranencephaly further evidence for autosomal recessive inheritance of Hydranencephaly fowler type
American Journal of Medical Genetics, 2002Co-Authors: Ingrid Witters, D Van Schoubroeck, F A Van Assche, Koenraad Devriendt, Ph. Moerman, P Braet, J P FrynsAbstract:We report a 13-week-old female fetus with early onset fetal akinesia deformation sequence (FADS) and Hydranencephaly. In a previous pregnancy, the same ultrasonographic findings were noted at 13 weeks. Fetopathological examination of both female fetuses confirmed FADS with severe arthogryposis, multiple pterygia, and muscular hypoplasia. Neuropathological examination showed massive cystic dilatation of the cerebral ventricles (Hydranencephaly) with calcification of the basal ganglion and brain stem and a proliferative vasculopathy throughout the central nervous system. The findings in the two female siblings document the earliest echographic diagnosis of Hydranencephaly, Fowler type, and this observation further supports autosomal recessive inheritance of this distinct type of Hydranencephaly.
