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Carsten Scavenius

Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene

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Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene. / Poulsen, Ebbe Toftgaard; Runager, Kasper; Risør, Michael W; Dyrlund, Thomas Franck; Scavenius, Carsten; Karring, Henrik; Praetorius, Jeppe; Vorum, Henrik; Otzen, Daniel E; Klintworth, Gordon K; Enghild, Jan J.

In: Proteomics - Clinical Applications, Vol. 8, No. 3-4, 04.2014, p. 168-177.

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Author

Poulsen, Ebbe Toftgaard ; Runager, Kasper ; Risør, Michael W ; Dyrlund, Thomas Franck ; Scavenius, Carsten ; Karring, Henrik ; Praetorius, Jeppe ; Vorum, Henrik ; Otzen, Daniel E ; Klintworth, Gordon K ; Enghild, Jan J. / Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene. In: Proteomics - Clinical Applications. 2014 ; Vol. 8, No. 3-4. pp. 168-177.

Bibtex

@article{c3b5ac1957be427dabb53b492fe043f3,
title = "Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene",
abstract = "In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or a A546D/P551Q double substitution in TGFBIp, can be ascribed to (I) a difference in the proteomes of corneal amyloid deposits, (II) altered proteolysis of TGFBIp or (III) structural changes of TGFBIp introduced by the P551Q amino acid substitution.",
author = "Poulsen, {Ebbe Toftgaard} and Kasper Runager and Ris{\o}r, {Michael W} and Dyrlund, {Thomas Franck} and Carsten Scavenius and Henrik Karring and Jeppe Praetorius and Henrik Vorum and Otzen, {Daniel E} and Klintworth, {Gordon K} and Enghild, {Jan J}",
note = "{\textcopyright} 2013 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim.",
year = "2014",
month = apr,
doi = "10.1002/prca.201300058",
language = "English",
volume = "8",
pages = "168--177",
journal = "Proteomics - Clinical Applications",
issn = "1862-8346",
publisher = "Wiley - V C H Verlag GmbH & Co. KGaA",
number = "3-4",

}

RIS

TY - JOUR

T1 - Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene

AU - Poulsen, Ebbe Toftgaard

AU - Runager, Kasper

AU - Risør, Michael W

AU - Dyrlund, Thomas Franck

AU - Scavenius, Carsten

AU - Karring, Henrik

AU - Praetorius, Jeppe

AU - Vorum, Henrik

AU - Otzen, Daniel E

AU - Klintworth, Gordon K

AU - Enghild, Jan J

N1 - © 2013 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim.

PY - 2014/4

Y1 - 2014/4

N2 - In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or a A546D/P551Q double substitution in TGFBIp, can be ascribed to (I) a difference in the proteomes of corneal amyloid deposits, (II) altered proteolysis of TGFBIp or (III) structural changes of TGFBIp introduced by the P551Q amino acid substitution.

AB - In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or a A546D/P551Q double substitution in TGFBIp, can be ascribed to (I) a difference in the proteomes of corneal amyloid deposits, (II) altered proteolysis of TGFBIp or (III) structural changes of TGFBIp introduced by the P551Q amino acid substitution.

U2 - 10.1002/prca.201300058

DO - 10.1002/prca.201300058

M3 - Journal article

C2 - 24302499

VL - 8

SP - 168

EP - 177

JO - Proteomics - Clinical Applications

JF - Proteomics - Clinical Applications

SN - 1862-8346

IS - 3-4

ER -