Monozygote Zwillinge mit Klinefelter-Syndrom (konkordant) und systemischem Lupus erythematodes (diskordant)

Schlegelberger, Brigitte; Schlegelberger, T.; Kekow, Jörn; Gross, Wolfgang L.; Grote, W.

doi:10.1007/bf01727439

Cited by 7 publications

(4 citation statements)

References 32 publications

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“…The MZ twin pairs in these reports are informative either because both twins are affected, with a different phenotype in each twin, or because only one twin from an MZ twin pair is affected. Our fascination for twins and the educational value of discordant MZ twins is illustrated by three reports that appear to be based on a one single MZ twin pair [Michalski et al, 1978; Schlegelberger et al, 1984, 1986] discordant for Klinefelter syndrome.…”

Section: Discordant Mz Twinsmentioning

confidence: 99%

Plasma‐deposited tetraglyme surfaces greatly reduce total blood protein adsorption, contact activation, platelet adhesion, platelet procoagulant activity, and in vitro thrombus deposition

Cao

Chang

Lee

et al. 2007

J Biomedical Materials Res

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The ability of tetraethylene glycol dimethyl ether (tetraglyme) plasma deposited coatings exhibiting ultralow fibrinogen adsorption to reduce blood activation was studied with six in vitro methods, namely fibrinogen and von Willebrand's factor adsorption, total protein adsorption, clotting time in recalcified plasma, platelet adhesion and procoagulant activity, and whole blood thrombosis in a disturbed flow catheter model. Surface plasmon resonance results showed that tetraglyme surfaces strongly resisted the adsorption of all proteins from human plasma. The clotting time in the presence of tetraglyme surfaces was lengthened compared with controls, indicating a lower activation of the intrinsic coagulation cascade. Platelet adhesion and thrombin generation by adherent platelets were greatly reduced on tetraglyme-coated materials, compared with uncoated and Biospan-coated glass slides. In the in vitro disturbed blood flow model, tetraglyme plasma coated catheters had 50% less thrombus than did the uncoated catheters. Tetraglyme-coated materials thus had greatly reduced blood interactions as measured with all six methods. The improved blood compatibility of plasma-deposited tetraglyme is thus not only due to their reduced platelet adhesion and activation, but also to a generalized reduction in blood interactions.

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Section: Discordant Mz Twinsmentioning

confidence: 99%

Plasma‐deposited tetraglyme surfaces greatly reduce total blood protein adsorption, contact activation, platelet adhesion, platelet procoagulant activity, and in vitro thrombus deposition

Cao

Chang

Lee

et al. 2007

J Biomedical Materials Res

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“…However, additional disorders associated with KS are less readily explained by perturbations of hypothalamic‐pituitary axis, such as an increased incidence of mediastinal tumors among children (Hasle et al, ) as well as a range of neurocognitive and psychiatric disturbances (Groth et al, ). The variable prevalence and severity of these characteristics among non‐mosaic KS subjects, as well as reports of phenotypic discordance among monozygotic twins (Davis and Wade, ; Michalski et al, ; Schlegelberger et al, ), suggest a role for epigenetic mediators.…”

Section: Introductionmentioning

confidence: 98%

Genome-wide site-specific differential methylation in the blood of individuals with Klinefelter syndrome

et al. 2015

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Klinefelter syndrome (KS) (47 XXY) is a common sex-chromosome aneuploidy with an estimated prevalence of 1 in every 660 male births. Investigations into the associations between DNA methylation and the highly variable clinical manifestations of KS have largely focused on the supernumerary X chromosome; systematic investigations of the epigenome have been limited. We obtained genome-wide DNA methylation data from peripheral blood using the Illumina HumanMethylation450K platform in 5 KS (47 XXY), 102 male (46 XY), and 113 female (46 XX) control subjects participating in the chronic obstructive pulmonary disease (COPD) Gene Study. Empirical Bayes-mediated models were used to test for differential methylation by KS status. CpG sites with a false-discovery rate <0.05 from the first-generation HumanMethylation27K platform were further examined in an independent replication cohort of 2 KS subjects, 590 male, and 495 female controls drawn from the International COPD Genetics Network (ICGN). Differential methylation at sites throughout the genome were identified, including 86 CpG sites that were differentially methylated in KS subjects relative to both male and female controls. CpG sites annotated to the HEN1 methyltransferase homolog 1 (HENMT1), calcyclin-binding protein (CACYBP), and GTPase-activating protein (SH3 domain)-binding protein 1 (G3BP1) genes were among the “KS-specific” loci that were replicated in ICGN. We therefore conclude that site-specific differential methylation exists throughout the genome in KS. The functional impact and clinical relevance of these differentially methylated loci should be explored in future studies.

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“…The MZ twin pairs in these reports are informative either because both twins are affected, with a different phenotype in each twin, or because only one twin from an MZ twin pair is affected. Our fascination for twins and the educational value of discordant MZ twins is illustrated by three reports that appear to be based on a one single MZ twin pair [Michalski et al, 1978;Schlegelberger et al, 1984Schlegelberger et al, , 1986] discordant for Klinefelter syndrome. Tables I and II provide an overview of the publications, which report a difference in phenotype between members from MZ twin pairs.…”

Section: Discordant Mz Twinsmentioning

confidence: 95%

Identical but not the same: The value of discordant monozygotic twins in genetic research

Zwijnenburg

Meijers-Heijboer

Boomsma³

2010

American J of Med Genetics Pt B

107

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Monozygotic (MZ) twins show remarkable resemblance in many aspects of behavior, health, and disease. Until recently, MZ twins were usually called "genetically identical"; however, evidence for genetic and epigenetic differences within rare MZ twin pairs has accumulated. Here, we summarize the literature on MZ twins discordant for Mendelian inherited disorders and chromosomal abnormalities. A systematic literature search for English articles on discordant MZ twin pairs was performed in Web of Science and PubMed. A total number of 2,016 publications were retrieved and reviewed and 439 reports were retained. Discordant MZ twin pairs are informative in respect to variability of phenotypic expression, pathogenetic mechanisms, epigenetics, and post-zygotic mutagenesis and may serve as a model for research on genetic defects. The analysis of single discordant MZ twin pairs may represent an elegant approach to identify genes in inherited disorders.

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Monozygote Zwillinge mit Klinefelter-Syndrom (konkordant) und systemischem Lupus erythematodes (diskordant)

Cited by 7 publications

References 32 publications

Plasma‐deposited tetraglyme surfaces greatly reduce total blood protein adsorption, contact activation, platelet adhesion, platelet procoagulant activity, and in vitro thrombus deposition

Plasma‐deposited tetraglyme surfaces greatly reduce total blood protein adsorption, contact activation, platelet adhesion, platelet procoagulant activity, and in vitro thrombus deposition

Genome-wide site-specific differential methylation in the blood of individuals with Klinefelter syndrome

Identical but not the same: The value of discordant monozygotic twins in genetic research

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