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  1. Article ; Online: Differentially expressed microRNAs in maternal plasma for the noninvasive prenatal diagnosis of Down syndrome (trisomy 21).

    Kamhieh-Milz, Julian / Moftah, Reham Fadl Hassan / Bal, Gürkan / Futschik, Matthias / Sterzer, Viktor / Khorramshahi, Omid / Burow, Martin / Thiel, Gundula / Stuke-Sontheimer, Annegret / Chaoui, Rabih / Kamhieh-Milz, Sundrela / Salama, Abdulgabar

    BioMed research international

    2014  Volume 2014, Page(s) 402475

    Abstract: Objectives: Most developmental processes are under the control of small regulatory RNAs called microRNAs (miRNAs). We hypothesize that different fetal developmental processes might be reflected by extracellular miRNAs in maternal plasma and may be ... ...

    Abstract Objectives: Most developmental processes are under the control of small regulatory RNAs called microRNAs (miRNAs). We hypothesize that different fetal developmental processes might be reflected by extracellular miRNAs in maternal plasma and may be utilized as biomarkers for the noninvasive prenatal diagnosis of chromosomal aneuploidies. In this proof-of-concept study, we report on the identification of extracellular miRNAs in maternal plasma of Down syndrome (DS) pregnancies.
    Methods: Using high-throughput quantitative PCR (HT-qPCR), 1043 miRNAs were investigated in maternal plasma via comparison of seven DS pregnancies with age and fetal sex matched controls.
    Results: Six hundred and ninety-five miRNAs were identified. Thirty-six significantly differentially expressed mature miRNAs were identified as potential biomarkers. Hierarchical cluster analysis of these miRNAs resulted in the clear discrimination of DS from euploid pregnancies. Gene targets of the differentially expressed miRNAs were enriched in signaling pathways such as mucin type-O-glycans, ECM-receptor interactions, TGF-beta, and endocytosis, which have been previously associated with DS.
    Conclusions: miRNAs are promising and stable biomarkers for a broad range of diseases and may allow a reliable, cost-efficient diagnostic tool for the noninvasive prenatal diagnosis of DS.
    MeSH term(s) Adult ; Biomarkers/blood ; Down Syndrome/blood ; Down Syndrome/genetics ; Female ; Humans ; Male ; MicroRNAs/blood ; MicroRNAs/genetics ; Pregnancy ; Prenatal Diagnosis ; Transforming Growth Factor beta/genetics ; Trisomy
    Chemical Substances Biomarkers ; MicroRNAs ; Transforming Growth Factor beta
    Language English
    Publishing date 2014-11-12
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2698540-8
    ISSN 2314-6141 ; 2314-6133
    ISSN (online) 2314-6141
    ISSN 2314-6133
    DOI 10.1155/2014/402475
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: L1CAM-assoziierter Hydrozephalus (MASA) bei einem Säugling und einem achtjährigen Bruder mit gleichem Syndrom - Fallbericht

    Patino Mayer, J. / Chaoui, R. / Stuke-Sontheimer, Annegret / Harps, E. / Schwabe, G. / Mansouri, Gudrun / Schaarschmidt, K. / Schweigerer, L.

    Päd

    2013  Volume 19, Issue 4, Page(s) 188

    Language German
    Document type Article
    ZDB-ID 1315461-8
    ISSN 0949-7641
    Database Current Contents Medicine

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6760: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  3. Article: Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.

    Barber, John C K / Maloney, Viv / Hollox, Edward J / Stuke-Sontheimer, Annegret / du Bois, Gabi / Daumiller, Eva / Klein-Vogler, Ute / Dufke, Andreas / Armour, John A L / Liehr, Thomas

    European journal of human genetics : EJHG

    2005  Volume 13, Issue 10, Page(s) 1131–1136

    Abstract: It has been proposed that duplications of 8p23.1 are either euchromatic variants of the 8p23.1 defensin domain with no phenotypic consequences or true duplications associated with developmental delay and heart defects. Here, we provide evidence for both ... ...

    Abstract It has been proposed that duplications of 8p23.1 are either euchromatic variants of the 8p23.1 defensin domain with no phenotypic consequences or true duplications associated with developmental delay and heart defects. Here, we provide evidence for both alternatives in two new families. A duplication of most of band 8p23.1 (circa 5 Mb) was found in a girl of 8 years with pulmonary stenosis and mild language delay. BAC fluorescence in situ hybridisation (FISH) and multiplex amplifiable probe hybridisation (MAPH) showed that the two copies of the duplicated segment were sited, in an alternating fashion, between three copies of a circa 300-450 kb segment from 8p23.1 distal to REPD. Copy number of the variable 8p23.1 defensin domain was consistent with duplication but within the normal range. Duplication of the GATA-binding protein 4 gene (GATA4) in this patient and others with and without heart defects, suggests it is a dosage-sensitive gene with variable penetrance. A cytogenetically similar duplication of 8p23.1 was found at prenatal diagnosis in a fetus, father and grandmother. There was no duplication using BAC FISH but MAPH showed 11 copies of the 360 kb variable defensin domain which is within the expanded range found in previous euchromatic variant carriers. Semiquantitative FISH (SQ-FISH) was consistent with a simultaneous expansion of the adjacent olfactory receptor repeats. These results distinguish duplications of 8p23.1 with clinically significant consequences from benign copy number variants, which have not yet been associated with qualitative or quantitative traits.
    MeSH term(s) Child ; Chromosome Aberrations ; Chromosomes, Human, Pair 8 ; DNA-Binding Proteins/genetics ; Defensins/genetics ; Female ; GATA4 Transcription Factor ; Gene Duplication ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Language Development Disorders/genetics ; Male ; Nucleic Acid Hybridization ; Polymerase Chain Reaction ; Pulmonary Valve Stenosis/genetics ; Transcription Factors/genetics
    Chemical Substances DNA-Binding Proteins ; Defensins ; GATA4 Transcription Factor ; GATA4 protein, human ; Transcription Factors
    Language English
    Publishing date 2005-10
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/sj.ejhg.5201475
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3589: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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