PMC Links for Protein (Select 71153499) - PMC

Select item 55611871.

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum

Sci Rep. 2017; 7: 8654. Published online 2017 Aug 17. doi: 10.1038/s41598-017-09035-1

PMCID:: PMC5561187

Abstract Article PDF–2.4M

Select item 34903762.

Next-generation genetic testing for retinitis pigmentosa

Kornelia Neveling, Rob W.J. Collin, Christian Gilissen, Ramon A.C. van Huet, Linda Visser, Michael P. Kwint, Sabine J. Gijsen, Marijke N. Zonneveld, Nienke Wieskamp, Joep de Ligt, Anna M. Siemiatkowska, Lies H. Hoefsloot, Michael F. Buckley, Ulrich Kellner, Kari E. Branham, Anneke I. den Hollander, Alexander Hoischen, Carel Hoyng, B. Jeroen Klevering, L. Ingeborgh van den Born, Joris A. Veltman, Frans P.M. Cremers, Hans Scheffer

Hum Mutat. 2012 Jun; 33(6): 963–972. Published online 2012 Feb 14. doi: 10.1002/humu.22045

PMCID:: PMC3490376

Abstract Article PDF–459K

Select item 32931093.

CRB1 mutations in inherited retinal dystrophies

Kinga Bujakowska, Isabelle Audo, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Thierry Léveillard, Mélanie Letexier, Jean-Paul Saraiva, Christine Lonjou, Wassila Carpentier, José-Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz

Hum Mutat. Author manuscript; available in PMC 2013 Feb 1.

Published in final edited form as: Hum Mutat. 2012 Feb; 33(2): 306–315. Published online 2011 Dec 27. doi: 10.1002/humu.21653

PMCID:: PMC3293109

Abstract Article PDF–1.9M

Select item 32248424.

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping

Anna M. Siemiatkowska, Kentar Arimadyo, Luminita M. Moruz, Galuh D.N. Astuti, Marta de Castro-Miro, Marijke N. Zonneveld, Tim M. Strom, Ilse J. de Wijs, Lies H. Hoefsloot, Sultana M.H. Faradz, Frans P.M. Cremers, Anneke I. den Hollander, Rob W.J. Collin

Mol Vis. 2011; 17: 3013–3024. Published online 2011 Nov 18.

PMCID:: PMC3224842

Abstract Article PDF–4.5M

Select item 30943465.

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

Lin Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Xiaodong Jiao, Qingjiong Zhang, J. Fielding Hejtmancik

PLoS One. 2011; 6(5): e19458. Published online 2011 May 13. doi: 10.1371/journal.pone.0019458

PMCID:: PMC3094346

Abstract Article PDF–100K

Select item 27868846.

Molecular characterization of retinitis pigmentosa in Saudi Arabia

Mohammed A. Aldahmesh, Leen Abu Safieh, Hisham Alkuraya, Ali Al-Rajhi, Hanan Shamseldin, Mais Hashem, Fatemah Alzahrani, Arif O. Khan, Faisal Alqahtani, Zuhair Rahbeeni, Mohammed Alowain, Hanif Khalak, Salwa Al-Hazzaa, Brian F. Meyer, Fowzan S. Alkuraya

Mol Vis. 2009; 15: 2464–2469. Published online 2009 Nov 24.

PMCID:: PMC2786884

Abstract Article PDF–2.3M

Select item 24930257.

Molecular characterization of Leber congenital amaurosis in Koreans

Moon-Woo Seong, Seong Yeon Kim, Young Suk Yu, Jeong-Min Hwang, Ji Yeon Kim, Sung Sup Park

Mol Vis. 2008; 14: 1429–1436. Published online 2008 Aug 4.

PMCID:: PMC2493025

Abstract Article PDF–1.2M

Select item 22136768.

The full-ORF clone resource of the German cDNA Consortium

Stephanie Bechtel, Heiko Rosenfelder, Anny Duda, Christian Peter Schmidt, Ute Ernst, Ruth Wellenreuther, Alexander Mehrle, Claudia Schuster, Andre Bahr, Helmut Blöcker, Dagmar Heubner, Andreas Hoerlein, Guenter Michel, Holger Wedler, Karl Köhrer, Birgit Ottenwälder, Annemarie Poustka, Stefan Wiemann, Ingo Schupp

BMC Genomics. 2007; 8: 399. Published online 2007 Oct 31. doi: 10.1186/1471-2164-8-399

PMCID:: PMC2213676

Abstract Article PDF–939K

Select item 17355239.

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa

S Bernal, M Calaf, M Garcia-Hoyos, B Garcia-Sandoval, J Rosell, A Adan, C Ayuso, M Baiget

J Med Genet. 2003 Jul; 40(7): e89. doi: 10.1136/jmg.40.7.e89

PMCID:: PMC1735523

Summary PDF–173K

Select item 122603410.

Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

Anneke I. den Hollander, John R. Heckenlively, L. Ingeborgh van den Born, Yvette J. M. de Kok, Saskia D. van der Velde-Visser, Ulrich Kellner, Bernhard Jurklies, Mary J. van Schooneveld, Anita Blankenagel, Klaus Rohrschneider, Bernd Wissinger, Johan R. M. Cruysberg, August F. Deutman, Han G. Brunner, Eckart Apfelstedt-Sylla, Carel B. Hoyng, Frans P. M. Cremers

Am J Hum Genet. 2001 Jul; 69(1): 198–203. Published online 2001 May 24. doi: 10.1086/321263

Correction in:: Am J Hum Genet. 2001 Nov; 69(5): 1160.

PMCID:: PMC1226034

Abstract Article PDF–168K

Select item 52892811.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 668113412.

A Conserved Di‐Basic Motif of Drosophila Crumbs Contributes to Efficient ER Export

Alexandra Kumichel, Katja Kapp, Elisabeth Knust

Traffic. 2015 Jun; 16(6): 604–616. Published online 2015 Apr 14. doi: 10.1111/tra.12273

PMCID:: PMC6681134

Abstract Article PDF–18M

Select item 554896113.

Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families

Mohammad Ghofrani, Mahin Yahyaei, Han G. Brunner, Frans P.M. Cremers, Morteza Movasat, Muhammad Imran Khan, Mohammad Keramatipour

Iran Biomed J. 2017 Sep; 21(5): 294–302. doi: 10.18869/acadpub.ibj.21.5.294

PMCID:: PMC5548961

Abstract Article PDF–1.1M

Select item 545854314.

Biological functions of fucose in mammals

Michael Schneider, Esam Al-Shareffi, Robert S Haltiwanger

Glycobiology. 2017 Jul; 27(7): 601–618. Published online 2017 May 4. doi: 10.1093/glycob/cwx034

PMCID:: PMC5458543

Abstract Article PDF–1.4M

Select item 469532615.

Priorities and trends in the study of proteins in eye research, 1924–2014

Richard D. Semba, Maggie Lam, Kai Sun, Pingbo Zhang, Debra A. Schaumberg, Luigi Ferrucci, Peipei Ping, Jennifer E. Van Eyk

Proteomics Clin Appl. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Proteomics Clin Appl. 2015 Dec; 9(0): 1105–1122. Published online 2015 Sep 16. doi: 10.1002/prca.201500006

PMCID:: PMC4695326

Abstract Article PDF–1.7M

Select item 368395616.

Interaction of colloidal gold nanoparticles with human blood: effects on particle size and analysis of plasma protein binding profiles

Marina A. Dobrovolskaia, Anil K. Patri, Jiwen Zheng, Jeffrey D. Clogston, Nader Ayub, Parag Aggarwal, Barry W. Neun, Jennifer B. Hall, Scott E. McNeil

Nanomedicine. Author manuscript; available in PMC 2013 Jun 17.

Published in final edited form as: Nanomedicine. 2009 Jun; 5(2): 106–117. Published online 2008 Dec 13. doi: 10.1016/j.nano.2008.08.001

PMCID:: PMC3683956

Abstract Article PDF–3.1M

Select item 315702817.

Protein Profiling of Human Nonpigmented Ciliary Epithelium Cell Secretome: The Differentiation Factors Characterization for Retinal Ganglion Cell line

Ming-Hui Yang, Raghu R. Krishnamoorthy, Shiang-Bin Jong, Pei-Yu Chu, Yuan-Han Yang, Wen-Cheng Chen, Sharon Chia-Ju Chen, Adnan Dibas, Thomas Yorio, Tze-Wen Chung, Yu-Chang Tyan

J Biomed Biotechnol. 2011; 2011: 901329. Published online 2011 Aug 10. doi: 10.1155/2011/901329

Correction in:: J Biomed Biotechnol. 2011; 2011: 239089.

PMCID:: PMC3157028

Abstract Article PDF–1.6M

Select item 304816418.

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

Frauke Coppieters, Ingele Casteels, Françoise Meire, Sarah De Jaegere, Sally Hooghe, Nicole van Regemorter, Hilde Van Esch, Aušra Matulevičienė, Luis Nunes, Valérie Meersschaut, Sophie Walraedt, Lieve Standaert, Paul Coucke, Heidi Hoeben, Hester Y Kroes, Johan Vande Walle, Thomy de Ravel, Bart P Leroy, Elfride De Baere

Hum Mutat. 2010 Oct; 31(10): E1709–E1766. doi: 10.1002/humu.21336

PMCID:: PMC3048164

Abstract Article PDF–430K

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