Zobrazeno 1 - 10
of 186
pro vyhledávání: '"Gordon K, Klintworth"'
Autor:
Natalie A. Afshari, Robert P. Igo, Nathan J. Morris, Dwight Stambolian, Shiwani Sharma, V. Lakshmi Pulagam, Steven Dunn, John F. Stamler, Barbara J. Truitt, Jacqueline Rimmler, Abraham Kuot, Christopher R. Croasdale, Xuejun Qin, Kathryn P. Burdon, S. Amer Riazuddin, Richard Mills, Sonja Klebe, Mollie A. Minear, Jiagang Zhao, Elmer Balajonda, George O. Rosenwasser, Keith H Baratz, V. Vinod Mootha, Sanjay V. Patel, Simon G. Gregory, Joan E. Bailey-Wilson, Marianne O. Price, Francis W. Price, Jamie E. Craig, John H. Fingert, John D. Gottsch, Anthony J. Aldave, Gordon K. Klintworth, Jonathan H. Lass, Yi-Ju Li, Sudha K. Iyengar
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-8 (2017)
Fuchs endothelial corneal dystrophy (FECD) is one of the most common reasons for corneal transplantation, and is known to cluster in families. Here, the authors discover new genetic loci associated with FECD with sex-specific effects and implications
Externí odkaz:
https://doaj.org/article/d1c65f3362014583bd22c5188abefc76
Autor:
Yi-Ju Li, Mollie A Minear, Jacqueline Rimmler, Bei Zhao, Elmer Balajonda, Michael A Hauser, R Rand Allingham, Allen O Eghrari, S Amer Riazuddin, Nicholas Katsanis, John D Gottsch, Simon G Gregory, Gordon K Klintworth, Natalie A Afshari
Publikováno v:
PLoS ONE, Vol 6, Iss 4, p e18044 (2011)
Fuchs endothelial corneal dystrophy (FECD) is a common, late-onset disorder of the corneal endothelium. Although progress has been made in understanding the genetic basis of FECD by studying large families in which the phenotype is transmitted in an
Externí odkaz:
https://doaj.org/article/6728000597c34a7097af38dd6639c715
Autor:
Kathryn P. Burdon, Marianne O. Price, Natalie A. Afshari, Simon G. Gregory, Jiagang Zhao, S. Amer Riazuddin, Sanjay V. Patel, Elmer Balajonda, Sudha K. Iyengar, Christopher R. Croasdale, Jamie E Craig, Venkateswara Mootha, Gordon K. Klintworth, Barbara Truitt, John F. Stamler, George O D Rosenwasser, Shiwani Sharma, Abraham Kuot, Jonathan H. Lass, Mollie A. Minear, Richard A. Mills, Steven P. Dunn, Sonja Klebe, Keith H. Baratz, John H. Fingert, Anthony J. Aldave, Xuejun Qin, Dwight Stambolian, V. Lakshmi Pulagam, John D. Gottsch, Joan E. Bailey-Wilson, Francis W. Price, Nathan Morris, Yi-Ju Li, Robert P. Igo, J. B. Rimmler
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-8 (2017)
Nature Communications
Nature Communications
The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand the genetic aetiology of Fuchs endothelial corneal dystrophy (FECD), the most prevalent corneal disorder r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78aba81960472d88ac8bad9b04f110f5
https://doaj.org/article/d1c65f3362014583bd22c5188abefc76
https://doaj.org/article/d1c65f3362014583bd22c5188abefc76
Autor:
John E. Sutphin, Walter Lisch, G. Van Rij, Gordon K. Klintworth, Berthold Seitz, Shigeru Kinoshita, Cecilie Bredrup, Michael W. Belin, Anthony J. Aldave, Tero Kivelä, Jayne S. Weiss, Mark J. Mannis, Francis L. Munier, Eung Kweon Kim, Christopher J. Rapuano, Hans Ulrik Møller, Massimo Busin
Publikováno v:
Klinische Monatsblätter für Augenheilkunde. 228:S1-S39
BACKGROUND: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification. Abnormalities in different genes can cause a single phenotype, whereas different defects i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::397dca8b9f7715723d553bc27f07076d
https://doi.org/10.1055/s-0029-1245895
https://doi.org/10.1055/s-0029-1245895
Autor:
Gordon K. Klintworth, James V. Jester
Publikováno v:
Clinical & Experimental Ophthalmology. 38:23-33
The current paper reviews the genetic basis of diseases affecting the cornea, including corneal dystrophies and systemic diseases with corneal manifestations (e.g. the mucopolysaccharidoses), discusses the mechanisms by which corneal injury and disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4465e2616eaecdc08d4b4ce57af2c4f2
https://doi.org/10.1111/j.1442-9071.2010.02365.x
https://doi.org/10.1111/j.1442-9071.2010.02365.x
Autor:
Kasper Runager, Torben Møller-Pedersen, Gordon K. Klintworth, Ida B. Thøgersen, Heririk Karring, Jan J. Enghild, Zuzana Valnickova
Publikováno v:
Karring, H, Runager, K, Valnickova, Z, Thøgersen, I B, Møller-Pedersen, T, Klintworth, G K & Enghild, J J 2010, ' Differential expression and processing of transforming growth factor beta induced protein (TGFBIp) in the normal human cornea during postnatal development and aging ', Experimental Eye Research, vol. 90, pp. 57-62 . https://doi.org/10.1016/j.exer.2009.09.011
Karring, H, Runager, K, Valnickova, Z, Thøgersen, I, Møller-Pedersen, T, Klintworth, G K & Enghild, J J 2010, ' Differential expression and processing of transforming growth factor beta induced protein (TGFBIp) in the normal human cornea during postnatal development and aging ', Experimental Eye Research, vol. 90, no. 1, pp. 57-62 . https://doi.org/10.1016/j.exer.2009.09.011
Karring, H, Runager, K, Valnickova, Z, Thøgersen, I, Møller-Pedersen, T, Klintworth, G K & Enghild, J J 2010, ' Differential expression and processing of transforming growth factor beta induced protein (TGFBIp) in the normal human cornea during postnatal development and aging ', Experimental Eye Research, vol. 90, no. 1, pp. 57-62 . https://doi.org/10.1016/j.exer.2009.09.011
Udgivelsesdato: 2010-Jan Transforming growth factor beta induced protein (TGFBIp, also named keratoepithelin) is an extracellular matrix protein abundant in the cornea. The purpose of this study was to determine the expression and processing of TGFBI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444790c9fe893f18e92c9d8258e3ca9f
https://doi.org/10.1016/j.exer.2009.09.011
https://doi.org/10.1016/j.exer.2009.09.011
Autor:
Torsten Nygaard Kristensen, Gordon K. Klintworth, Kasper Runager, F. Xavier Gomis-Rüth, Jan J. Enghild, Raquel García-Castellanos, Niels Chr. Nielsen, Zuzana Valnickova
Publikováno v:
Acta Crystallographica Section F Structural Biology and Crystallization Communications; Vol 65
Runager, K, García-Castellanos, R, Valnickova, Z, Kristensen, T, Nielsen, N C, Klintworth, G K, Gomis-Rüth, F X & Enghild, J J 2009, ' Purification, crystallization and preliminary X-ray diffraction of wild-type and mutant recombinant human transforming growth factor beta-induced protein (TGFBIp) ', Acta Crystallographica. Section F: Structural Biology and Crystallization Communications Online, vol. 65, no. Pt 3, pp. 299-303 . https://doi.org/10.1107/S1744309109005016
Digital.CSIC. Repositorio Institucional del CSIC
instname
Runager, K, García-Castellanos, R, Valnickova, Z, Kristensen, T, Nielsen, N C, Klintworth, G K, Gomis-Rüth, F X & Enghild, J J 2009, ' Purification, crystallization and preliminary X-ray diffraction of wild-type and mutant recombinant human transforming growth factor beta-induced protein (TGFBIp) ', Acta Crystallographica. Section F: Structural Biology and Crystallization Communications Online, vol. 65, no. Pt 3, pp. 299-303 . https://doi.org/10.1107/S1744309109005016
Digital.CSIC. Repositorio Institucional del CSIC
instname
Transforming growth factor β-induced protein (TGFBIp) has been linked to several corneal dystrophies as certain point mutations in the protein may give rise to a progressive accumulation of insoluble protein material in the human cornea. Little is k
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c96d9ec9c7cd57777a752af38b84339
Autor:
Anand S, Lagoo, Christopher, Haggerty, Young, Kim, Matthew, Hammons, Kenneth, Neufeld, Catherine, Redher, Julie, Woodward, Gordon K, Klintworth
Publikováno v:
Archives of Pathology & Laboratory Medicine. 132:1405-1416
Context.—Marginal zone lymphomas (MZLs) are the most common lymphomas encountered in the orbit and ocular adnexa. The accurate categorization of these lymphomas is critical to avoid undertreatment or overtreatment. Objective.—To identify features
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbe4eabdc404341011701dd8b125ba86
https://doi.org/10.5858/2008-132-1405-mfolot
https://doi.org/10.5858/2008-132-1405-mfolot
Autor:
Gordon K. Klintworth, Brandy L. Bowling, Martin Filipec, Shomi S. Bhattacharya, Katerina Jirsova, Stephen J. Tuft, Petra Liskova, Neil D. Ebenezer, Alison J. Hardcastle
Publikováno v:
Ophthalmic Research. 40:105-108
Aims: To evaluate mutations in the transforming-growth-factor-β-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies. Methods: The coding sequence of the TGFBI gene was analysed in 22 affected Czech individual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4123d1cf1570954c935d380102f3a3bd
https://doi.org/10.1159/000115325
https://doi.org/10.1159/000115325
Autor:
Birgit Sander, Gordon K. Klintworth, Thomas Martini Jørgensen, Thor Eysteinsson, Fridbert Jonasson
Publikováno v:
Acta Ophthalmologica Scandinavica. 85:862-867
Purpose To locate the mildest and/or earliest changes in the retina and/or choroid in Sveinsson chorioretinal atrophy (SCRA), using more advanced techniques than previous studies. Methods We used fundus photography, intravenous fluorescein angiograph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35c5067ef217e1b034b4b9fe4a5bcf33
https://doi.org/10.1111/j.1600-0420.2007.01002.x
https://doi.org/10.1111/j.1600-0420.2007.01002.x