The Experts below are selected from a list of 150 Experts worldwide ranked by ideXlab platform

Anthony H.v. Schapira - One of the best experts on this subject based on the ideXlab platform.

  • Mitochondrial DNA Depletion Syndrome is Expressed in Amniotic Fluid Cell Cultures
    The American journal of pathology, 1999
    Co-Authors: Julian Blake, J. Mark Cooper, James V. Leonard, Andrew M. M. Morris, R. George F. Gray, Patrick J. Mckiernan, Anthony H.v. Schapira
    Abstract:

    Mitochondrial DNA depletion syndrome is an autosomal inherited disease associated with grossly reduced Cellular levels of mitochondrial DNA in infancy. Most patients are born after a full and uncomplicated pregnancy, are normal at birth, but develop symptoms in the early neonatal period. These observations have led to the suggestion that the patients have a defect affecting the control of mitochondrial DNA copy number after birth. Using immunocytochemical techniques, we demonstrated that the disease is already expressed in Amniotic Fluid Cells. Detection of mitochondrial DNA depletion in these fetal Cells indicates that the defect may already be expressed early in embryological development.

  • Short Communication Mitochondrial DNA Depletion Syndrome is Expressed in Amniotic Fluid Cell Cultures
    1999
    Co-Authors: Julian Blake, J. Mark Cooper, James V. Leonard, Andrew M. M. Morris, Patrick J. Mckiernan, R. George, F. Gray, Anthony H.v. Schapira
    Abstract:

    Mitochondrial DNA depletion syndrome is an autosomal inherited disease associated with grossly reduced Cellular levels of mitochondrial DNA in infancy. Most patients are born after a full and uncomplicated pregnancy, are normal at birth, but develop symptoms in the early neonatal period. These observations have led to the suggestion that the patients have a defect affecting the control of mitochondrial DNA copy number after birth. Using immunocytochemical techniques, we demonstrated that the disease is already expressed in Amniotic Fluid Cells. Detection of mitochondrial DNA depletion in these fetal Cells indicates that the defect may already be expressed early in embryological development. (Am J Pathol 1999, 155:67‐70) Mitochondrial DNA (mtDNA) depletion syndrome is a recently recognized disorder involving a quantitative defect of mtDNA. It presents in infancy with hepatorenal failure, myopathy, hypotonia, hypoglycemia, and lactic acidosis. Investigation demonstrates levels of mtDNA which may be less than 5% of control levels in the affected tissues of

Julian Blake - One of the best experts on this subject based on the ideXlab platform.

  • Mitochondrial DNA Depletion Syndrome is Expressed in Amniotic Fluid Cell Cultures
    The American journal of pathology, 1999
    Co-Authors: Julian Blake, J. Mark Cooper, James V. Leonard, Andrew M. M. Morris, R. George F. Gray, Patrick J. Mckiernan, Anthony H.v. Schapira
    Abstract:

    Mitochondrial DNA depletion syndrome is an autosomal inherited disease associated with grossly reduced Cellular levels of mitochondrial DNA in infancy. Most patients are born after a full and uncomplicated pregnancy, are normal at birth, but develop symptoms in the early neonatal period. These observations have led to the suggestion that the patients have a defect affecting the control of mitochondrial DNA copy number after birth. Using immunocytochemical techniques, we demonstrated that the disease is already expressed in Amniotic Fluid Cells. Detection of mitochondrial DNA depletion in these fetal Cells indicates that the defect may already be expressed early in embryological development.

  • Short Communication Mitochondrial DNA Depletion Syndrome is Expressed in Amniotic Fluid Cell Cultures
    1999
    Co-Authors: Julian Blake, J. Mark Cooper, James V. Leonard, Andrew M. M. Morris, Patrick J. Mckiernan, R. George, F. Gray, Anthony H.v. Schapira
    Abstract:

    Mitochondrial DNA depletion syndrome is an autosomal inherited disease associated with grossly reduced Cellular levels of mitochondrial DNA in infancy. Most patients are born after a full and uncomplicated pregnancy, are normal at birth, but develop symptoms in the early neonatal period. These observations have led to the suggestion that the patients have a defect affecting the control of mitochondrial DNA copy number after birth. Using immunocytochemical techniques, we demonstrated that the disease is already expressed in Amniotic Fluid Cells. Detection of mitochondrial DNA depletion in these fetal Cells indicates that the defect may already be expressed early in embryological development. (Am J Pathol 1999, 155:67‐70) Mitochondrial DNA (mtDNA) depletion syndrome is a recently recognized disorder involving a quantitative defect of mtDNA. It presents in infancy with hepatorenal failure, myopathy, hypotonia, hypoglycemia, and lactic acidosis. Investigation demonstrates levels of mtDNA which may be less than 5% of control levels in the affected tissues of

Lisa Hui - One of the best experts on this subject based on the ideXlab platform.

  • global gene expression analysis of Amniotic Fluid Cell free rna from recipient twins with twin twin transfusion syndrome
    Prenatal Diagnosis, 2013
    Co-Authors: Lisa Hui, Heather C. Wick, Kenneth J Moise, Anthony Johnson, Francois I Luks, Sina Haeri
    Abstract:

    Objective The objective of this study was to understand the biological pathways involved in twin–twin transfusion syndrome (TTTS) by performing global gene expression analysis of Amniotic Fluid (AF) Cell-free RNA. Methods A prospective whole transcriptome microarray study analyzing Cell-free RNA in AF from TTTS recipient twins and singleton controls was carried out. Significantly differentially regulated genes in TTTS cases (N = 8) versus matched controls (N = 8) were identified and pathways analyses performed. Significant gene expression differences between stage II TTTS recipients (N = 5) and stage III TTTS recipients with abnormal Doppler measurements (N = 5) were also analyzed. Results Analysis of paired data from TTTS cases and controls revealed differential expression of 801 genes, which were significantly enriched for neurological disease and cardiovascular system pathways. We also identified cardiovascular genes and pathways associated with the presence of critically abnormal Doppler measurements in stage III TTTS recipients. Conclusions This study provides the first transcriptome-wide data on the impact of TTTS on fetal development. Our results show that gene expression involving neurological and cardiovascular pathways are altered in recipient fetuses prior to surgical treatment. This has relevance for the origins of long-term complications seen in survivors and for the development of future fetal biomarkers. © 2013 John Wiley & Sons, Ltd.

  • Global gene expression analysis of term Amniotic Fluid Cell-free fetal RNA.
    Obstetrics and gynecology, 2013
    Co-Authors: Lisa Hui, Heather C. Wick, Andrea G. Edlow, Janet M. Cowan, Diana W. Bianchi
    Abstract:

    OBJECTIVE:To identify the tissue expression patterns and biological pathways enriched in term Amniotic Fluid Cell-free fetal RNA by comparing functional genomic analyses of term and second-trimester Amniotic Fluid supernatants.METHODS:This was a prospective whole genome microarray study comparing ei

Diana W. Bianchi - One of the best experts on this subject based on the ideXlab platform.

  • Global gene expression analysis of term Amniotic Fluid Cell-free fetal RNA.
    Obstetrics and gynecology, 2013
    Co-Authors: Lisa Hui, Heather C. Wick, Andrea G. Edlow, Janet M. Cowan, Diana W. Bianchi
    Abstract:

    OBJECTIVE:To identify the tissue expression patterns and biological pathways enriched in term Amniotic Fluid Cell-free fetal RNA by comparing functional genomic analyses of term and second-trimester Amniotic Fluid supernatants.METHODS:This was a prospective whole genome microarray study comparing ei

  • functional genomic analysis of Amniotic Fluid Cell free mrna suggests that oxidative stress is significant in down syndrome fetuses
    Proceedings of the National Academy of Sciences of the United States of America, 2009
    Co-Authors: Donna K Slonim, Umadevi Tantravahi, Janet M. Cowan, Keiko Koide, Kirby L Johnson, Zina Jarrah, Diana W. Bianchi
    Abstract:

    To characterize the differences between second trimester Down syndrome (DS) and euploid fetuses, we used Affymetrix microarrays to compare gene expression in uncultured Amniotic Fluid supernatant samples. Functional pathway analysis highlighted the importance of oxidative stress, ion transport, and G protein signaling in the DS fetuses. Further evidence supporting these results was derived by correlating the observed gene expression patterns to those of small molecule drugs via the Connectivity Map. Our results suggest that there are secondary adverse consequences of DS evident in the second trimester, leading to testable hypotheses about possible antenatal therapy for DS.

Andrew M. M. Morris - One of the best experts on this subject based on the ideXlab platform.

  • Mitochondrial DNA Depletion Syndrome is Expressed in Amniotic Fluid Cell Cultures
    The American journal of pathology, 1999
    Co-Authors: Julian Blake, J. Mark Cooper, James V. Leonard, Andrew M. M. Morris, R. George F. Gray, Patrick J. Mckiernan, Anthony H.v. Schapira
    Abstract:

    Mitochondrial DNA depletion syndrome is an autosomal inherited disease associated with grossly reduced Cellular levels of mitochondrial DNA in infancy. Most patients are born after a full and uncomplicated pregnancy, are normal at birth, but develop symptoms in the early neonatal period. These observations have led to the suggestion that the patients have a defect affecting the control of mitochondrial DNA copy number after birth. Using immunocytochemical techniques, we demonstrated that the disease is already expressed in Amniotic Fluid Cells. Detection of mitochondrial DNA depletion in these fetal Cells indicates that the defect may already be expressed early in embryological development.

  • Short Communication Mitochondrial DNA Depletion Syndrome is Expressed in Amniotic Fluid Cell Cultures
    1999
    Co-Authors: Julian Blake, J. Mark Cooper, James V. Leonard, Andrew M. M. Morris, Patrick J. Mckiernan, R. George, F. Gray, Anthony H.v. Schapira
    Abstract:

    Mitochondrial DNA depletion syndrome is an autosomal inherited disease associated with grossly reduced Cellular levels of mitochondrial DNA in infancy. Most patients are born after a full and uncomplicated pregnancy, are normal at birth, but develop symptoms in the early neonatal period. These observations have led to the suggestion that the patients have a defect affecting the control of mitochondrial DNA copy number after birth. Using immunocytochemical techniques, we demonstrated that the disease is already expressed in Amniotic Fluid Cells. Detection of mitochondrial DNA depletion in these fetal Cells indicates that the defect may already be expressed early in embryological development. (Am J Pathol 1999, 155:67‐70) Mitochondrial DNA (mtDNA) depletion syndrome is a recently recognized disorder involving a quantitative defect of mtDNA. It presents in infancy with hepatorenal failure, myopathy, hypotonia, hypoglycemia, and lactic acidosis. Investigation demonstrates levels of mtDNA which may be less than 5% of control levels in the affected tissues of