Discordant phenotypic expression of Alport syndrome in monozygotic twins

Matsukura, Hiro; Higuchi, Akira; Ieki, A; Miyawaki, Toko

doi:10.5414/cnp62313

Cited by 4 publications

(2 citation statements)

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“…Furthermore, a mutation in IRF6 was found in the affected twin from an MZ twin pair discordant for Van der Woude syndrome [Kondo et al, 2002] and discordance for a point mutation in FLNA explains the occurrence of otopalatodigital syndrome in one twin from an MZ twin pair [Robertson et al, 2006]. Mosaicism of a mutation in the COL4A5 gene in the affected twin was suggested to cause discordance of Alport syndrome in an MZ twin pair [Matsukura et al, 2004]. These reports highlight the potential value of discordant MZ twins in identifying new genes [Mansilla et al, 2005].…”

Section: Mz Twins Discordant For Chromosomal Abnormalities and Mendelmentioning

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: Mz Twins Discordant For Chromosomal Abnormalities and Mendelmentioning

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

View full text Add to dashboard Cite

show abstract

Section: Mz Twins Discordant For Chromosomal Abnormalities and Mendelmentioning

confidence: 99%

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

128

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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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