PMC Links for Gene (Select 23418) - PMC

Malena Daich Varela, Michalis Georgiou, Yahya Alswaiti, Jamil Kabbani, Kaoru Fujinami, Yu Fujinami-Yokokawa, Shaheeni Khoda, Omar A. Mahroo, Anthony G. Robson, Andrew R. Webster, Alaa AlTalbishi, Michel Michaelides

Am J Ophthalmol. 2023 Feb; 246: 107–121. doi: 10.1016/j.ajo.2022.09.002

PMCID:: PMC10555856

Abstract Article PDF–2.2M

Select item 105454764.

CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids

Thilo M. Buck, Peter M.J. Quinn, Lucie P. Pellissier, Aat A. Mulder, Aldo Jongejan, Xuefei Lu, Nanda Boon, Daniëlle Koot, Hind Almushattat, Christiaan H. Arendzen, Rogier M. Vos, Edward J. Bradley, Christian Freund, Harald M.M. Mikkers, Camiel J.F. Boon, Perry D. Moerland, Frank Baas, Abraham J. Koster, Jacques Neefjes, Ilana Berlin, Carolina R. Jost, Jan Wijnholds

Stem Cell Reports. 2023 Sep 12; 18(9): 1793–1810. Published online 2023 Aug 3. doi: 10.1016/j.stemcr.2023.07.001

PMCID:: PMC10545476

Abstract Article PDF–8.7M

Select item 105311655.

Foveal Hypoplasia in CRB1-Related Retinopathies

Ana Catalina Rodriguez-Martinez, Bethany Elora Higgins, Vijay Tailor-Hamblin, Samantha Malka, Riccardo Cheloni, Alexander Mark Collins, John Bladen, Robert Henderson, Mariya Moosajee

Int J Mol Sci. 2023 Sep; 24(18): 13932. Published online 2023 Sep 11. doi: 10.3390/ijms241813932

PMCID:: PMC10531165

Abstract Article PDF–1.4M

Select item 94821906.

A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review

Wenhua Duan, Taicheng Zhou, Huawei Jiang, Minhui Zhang, Min Hu, Liwei Zhang

BMC Med Genomics. 2022; 15: 197. Published online 2022 Sep 17. doi: 10.1186/s12920-022-01356-z

PMCID:: PMC9482190

Abstract Article PDF–1.0M

Select item 87009767.

In Silico Analysis of Pathogenic CRB1 Single Nucleotide Variants and Their Amenability to Base Editing as a Potential Lead for Therapeutic Intervention

Julia-Sophia Bellingrath, Michelle E. McClements, Maria Kaukonen, Manuel Dominik Fischer, Robert E. MacLaren

Genes (Basel) 2021 Dec; 12(12): 1908. Published online 2021 Nov 27. doi: 10.3390/genes12121908

PMCID:: PMC8700976

Abstract Article PDF–2.2M

Select item 86577848.

Kévin Mairot, Vasily Smirnov, Béatrice Bocquet, Gilles Labesse, Carl Arndt, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, Dalil Hamroun, Danièle Denis, Marie-Christine Picot, Thierry David, Olivier Grunewald, Mako Pégart, Hélèna Huguet, Anne-Françoise Roux, Vasiliki Kalatzis, Claire-Marie Dhaenens, Isabelle Meunier

Int J Mol Sci. 2021 Dec; 22(23): 12642. Published online 2021 Nov 23. doi: 10.3390/ijms222312642

PMCID:: PMC8657784

Abstract Article PDF–3.3M

Select item 66611289.

Mohammad Saberi, Zahra Golchehre, Arezou Karamzade, Mona Entezam, Yeganeh Eshaghkhani, Elaheh Alavinejad, Hassan Khojasteh Jafari, Mohammad Keramatipour

Iran Biomed J. 2019 Sep; 23(5): 362–368. doi: 10.29252/.23.5.362

PMCID:: PMC6661128

Abstract Article PDF–861K

Select item 594565310.

A clinical and molecular characterisation of CRB1-associated maculopathy

Kamron N. Khan, Anthony Robson, Omar A. R. Mahroo, Gavin Arno, Chris F. Inglehearn, Monica Armengol, Naushin Waseem, Graham E. Holder, Keren J. Carss, Lucy F. Raymond, Andrew R. Webster, Anthony T. Moore, Martin McKibbin, Maria M. van Genderen, James A. Poulter, Michel Michaelides, UK Inherited Retinal Disease Consortium

Eur J Hum Genet. 2018 May; 26(5): 687–694. Published online 2018 Feb 1. doi: 10.1038/s41431-017-0082-2

PMCID:: PMC5945653

Abstract Article PDF–579K

Select item 556118711.

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 534675112.

Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing

Lan Lu, Xizhen Wang, David Lo, Jingning Weng, xiaohong Liu, Juhua Yang, Fen He, Yun Wang, Xuyang Liu

Oncotarget. 2016 Nov 29; 7(48): 79797–79804. Published online 2016 Oct 28. doi: 10.18632/oncotarget.12971

PMCID:: PMC5346751

Abstract Article PDF–2.6M

Select item 414501513.

Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype

Stephen H. Tsang, Tomas Burke, Maris Oll, Suzanne Yzer, Winston Lee, Yajing (Angela) Xie, Rando Allikmets

Ophthalmology. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: Ophthalmology. 2014 Sep; 121(9): 1773–1782. Published online 2014 May 6. doi: 10.1016/j.ophtha.2014.03.010

PMCID:: PMC4145015

Abstract Article PDF–877K

Select item 363780614.

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

Marta Corton, Sorina D Tatu, Almudena Avila-Fernandez, Elena Vallespín, Ignacio Tapias, Diego Cantalapiedra, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Sara Bernal, Blanca García-Sandoval, Montserrat Baiget, Carmen Ayuso

Orphanet J Rare Dis. 2013; 8: 20. Published online 2013 Feb 5. doi: 10.1186/1750-1172-8-20

PMCID:: PMC3637806

Abstract Article PDF–258K

Select item 362629615.

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa

Leila Tiab, Leila Largueche, Ibtissem Chouchane, Kaouthar Derouiche, Francis L. Munier, Leila El Matri, Daniel F. Schorderet

Mol Vis. 2013; 19: 829–834. Published online 2013 Apr 5.

PMCID:: PMC3626296

Abstract Article PDF–1.0M

Select item 347292316.

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen

Codrut C. Paun, Benjamin J. Pijl, Anna M. Siemiatkowska, Rob W.J. Collin, Frans P.M. Cremers, Carel B. Hoyng, Anneke I. den Hollander

Mol Vis. 2012; 18: 2447–2453. Published online 2012 Oct 4.

PMCID:: PMC3472923

Abstract Article PDF–1.4M

Select item 329310917.

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 249303118.

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

Ana Bustamante-Aragones, Elena Vallespin, Marta Rodriguez de Alba, Maria Jose Trujillo-Tiebas, Cristina Gonzalez-Gonzalez, Dan Diego-Alvarez, Rosa Riveiro-Alvarez, Isabel Lorda-Sanchez, Carmen Ayuso, Carmen Ramos

Mol Vis. 2008; 14: 1388–1394. Published online 2008 Aug 4.

PMCID:: PMC2493031

Abstract Article PDF–394K

Select item 122603419.

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 1099299620.

Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina

Isabel F Stehle, Joel A Imventarza, Franziska Woerz, Felix Hoffmann, Karsten Boldt, Tina Beyer, Peter MJ Quinn, Marius Ueffing

Life Sci Alliance. 2024 Jun; 7(6): e202302440. Published online 2024 Apr 3. doi: 10.26508/lsa.202302440

PMCID:: PMC10992996

Abstract Article PDF–4.6M

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PMC Links for Gene (Select 23418) (47)
PMC
protein crumbs homolog 1 isoform X4 [Homo sapiens]
protein crumbs homolog 1 isoform X4 [Homo sapiens]
gi|2462507242|ref|XP_054191648.1|

Protein
PREDICTED: Homo sapiens crumbs cell polarity complex component 1 (CRB1), transcr...
PREDICTED: Homo sapiens crumbs cell polarity complex component 1 (CRB1), transcript variant X6, mRNA
gi|2462507243|ref|XM_054335674.1|

Nucleotide
Homo sapiens transmembrane protein 243 (TMEM243), transcript variant 5, mRNA
Homo sapiens transmembrane protein 243 (TMEM243), transcript variant 5, mRNA
gi|1890334286|ref|NM_001329475.2|

Nucleotide

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