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

Ebbe Toftgaard Poulsen; Kasper Runager; Michael W Risør; Thomas Franck Dyrlund; Carsten Scavenius; Henrik Karring; Jeppe Praetorius; Henrik Vorum; Daniel E Otzen; Gordon K Klintworth; Jan J Enghild

doi:10.1002/prca.201300058

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

Ebbe Toftgaard Poulsen, Kasper Runager, Michael W Risør, Thomas Franck Dyrlund, Carsten Scavenius, Henrik Karring, Jeppe Praetorius, Henrik Vorum, Daniel E Otzen, Gordon K Klintworth, Jan J Enghild

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Tidsskriftartikel › Forskning › peer review

25 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	Proteomics - Clinical Applications
Vol/bind	8
Nummer	3-4
Sider (fra-til)	168-177
Antal sider	10
ISSN	1862-8346
DOI	https://doi.org/10.1002/prca.201300058
Status	Udgivet - apr. 2014

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10.1002/prca.201300058

Citationsformater

Poulsen, E. T., Runager, K., Risør, M. W., Dyrlund, T. F., Scavenius, C., Karring, H., Praetorius, J., Vorum, H., Otzen, D. E., Klintworth, G. K., & Enghild, J. J. (2014). Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene. Proteomics - Clinical Applications, 8(3-4), 168-177. https://doi.org/10.1002/prca.201300058

@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-VCH Verlag",

number = "3-4",

}

Poulsen, ET, Runager, K, Risør, MW, Dyrlund, TF, Scavenius, C, Karring, H, Praetorius, J, Vorum, H, Otzen, DE, Klintworth, GK & Enghild, JJ 2014, 'Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene', Proteomics - Clinical Applications, bind 8, nr. 3-4, s. 168-177. https://doi.org/10.1002/prca.201300058

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 et al.
I: Proteomics - Clinical Applications, Bind 8, Nr. 3-4, 04.2014, s. 168-177.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Tidsskriftartikel › Forskning › peer review

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

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

SN - 1862-8346

VL - 8

SP - 168

EP - 177

JO - Proteomics - Clinical Applications

JF - Proteomics - Clinical Applications

IS - 3-4

ER -

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

Abstract

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