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 F. Dyrlund; Carsten Scavenius; Henrik Karring; Jeppe Prætorius; 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 F. Dyrlund, Carsten Scavenius, Henrik Karring, Jeppe Prætorius, Henrik Vorum, Daniel E. Otzen, Gordon K Klintworth, Jan J. Enghild^*

^*Kontaktforfatter

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

22 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
Udgave nummer	3-4
Sider (fra-til)	168-177
Antal sider	10
ISSN	1862-8346
DOI	https://doi.org/10.1002/prca.201300058
Status	Udgivet - 2014

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Poulsen, E. T., Runager, K., Risør, M. W., Dyrlund, T. F., Scavenius, C., Karring, H., Prætorius, 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{8bfa4cabaeac415aa89028a195fbcde3,

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 F.} and Carsten Scavenius and Henrik Karring and Jeppe Pr{\ae}torius 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",

doi = "10.1002/prca.201300058",

language = "English",

volume = "8",

pages = "168--177",

journal = "Proteomics - Clinical Applications",

issn = "1862-8346",

publisher = "Wiley",

number = "3-4",

}

Poulsen, ET, Runager, K, Risør, MW, Dyrlund, TF, Scavenius, C, Karring, H, Prætorius, 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, 2014, s. 168-177.

Publikation: Bidrag til tidsskrift › 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 F.

AU - Scavenius, Carsten

AU - Karring, Henrik

AU - Prætorius, Jeppe

AU - Vorum, Henrik

AU - Otzen, Daniel E.

AU - Klintworth, Gordon K

AU - Enghild, Jan J.

PY - 2014

Y1 - 2014

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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