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Select item 99404411.

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla

Aude Tessier, Nathalie Roux, Lucile Boutaud, Elodie Lunel, Leila Hakkakian, Mélanie Parisot, Meriem Garfa-Traoré, Amale Ichkou, Nadia Elkhartoufi, Christine Bole, Patrick Nitschke, Jeanne Amiel, Jelena Martinovic, Férechté Encha-Razavi, Tania Attié-Bitach, Sophie Thomas

Acta Neuropathol Commun. 2023; 11: 29. Published online 2023 Feb 20. doi: 10.1186/s40478-023-01519-8

PMCID:: PMC9940441

Article PDF–2.3M

Select item 97818772.

Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome

Anam Simaab, Jai Krishin, Sultan Rashid Alaradi, Nighat Haider, Muqadar Shah, Asmat Ullah, Abdullah Abdullah, Wasim Ahmad, Torben Hansen, Sulman Basit

Medicina (Kaunas) 2022 Dec; 58(12): 1784. Published online 2022 Dec 4. doi: 10.3390/medicina58121784

PMCID:: PMC9781877

Article PDF–1.9M

Select item 97807583.

Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies

Annika Möller-Kerutt, Birgit Schönhoff, Yvonne Rellmann, Britta George, Daniela Anne Braun, Hermann Pavenstädt, Thomas Weide

Life Sci Alliance. 2023 Mar; 6(3): e202201649. Published online 2022 Dec 22. doi: 10.26508/lsa.202201649

PMCID:: PMC9780758

Article PDF–1.8M

Select item 42896874.

CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

Anne Slavotinek, Julie Kaylor, Heather Pierce, Michelle Cahr, Stephanie J. DeWard, Dina Schneidman-Duhovny, Adnan Alsadah, Fadi Salem, Gabriela Schmajuk, Lakshmi Mehta

Am J Hum Genet. 2015 Jan 8; 96(1): 162–169. doi: 10.1016/j.ajhg.2014.11.013

PMCID:: PMC4289687

Article PDF–960K

Select item 109929965.

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

Article PDF–4.6M

Select item 85199566.

Podocyte-specific Crb2 knockout mice develop focal segmental glomerulosclerosis

Akiko Tanoue, Kan Katayama, Yugo Ito, Kensuke Joh, Masaaki Toda, Taro Yasuma, Corina N. D’Alessandro-Gabazza, Hiroshi Kawachi, Kunimasa Yan, Masaaki Ito, Esteban C. Gabazza, Karl Tryggvason, Kaoru Dohi

Sci Rep. 2021; 11: 20556. Published online 2021 Oct 15. doi: 10.1038/s41598-021-00159-z

PMCID:: PMC8519956

Article PDF–12M

Select item 65229547.

Human iPSC-Derived Retinas Recapitulate the Fetal CRB1 CRB2 Complex Formation and Demonstrate that Photoreceptors and Müller Glia Are Targets of AAV5

Peter M. Quinn, Thilo M. Buck, Aat A. Mulder, Charlotte Ohonin, C. Henrique Alves, Rogier M. Vos, Monika Bialecka, Tessa van Herwaarden, Elon H.C. van Dijk, Mays Talib, Christian Freund, Harald M.M. Mikkers, Rob C. Hoeben, Marie-José Goumans, Camiel J.F. Boon, Abraham J. Koster, Susana M. Chuva de Sousa Lopes, Carolina R. Jost, Jan Wijnholds

Stem Cell Reports. 2019 May 14; 12(5): 906–919. Published online 2019 Apr 4. doi: 10.1016/j.stemcr.2019.03.002

PMCID:: PMC6522954

Article PDF–7.2M

Select item 61013918.

Association of crumbs homolog-2 with mTORC1 in developing podocyte

Sho Hamano, Yukino Nishibori, Ichiro Hada, Naoaki Mikami, Noriko Ito-Nitta, Daisuke Fukuhara, Akihiko Kudo, Zhijie Xiao, Masatoshi Nukui, Jaakko Patrakka, Karl Tryggvason, Kunimasa Yan

PLoS One. 2018; 13(8): e0202400. Published online 2018 Aug 20. doi: 10.1371/journal.pone.0202400

PMCID:: PMC6101391

Article PDF–4.1M

Select item 50276759.

Expansion of phenotype and genotypic data in CRB2-related syndrome

Ryan E Lamont, Wen-Hann Tan, A Micheil Innes, Jillian S Parboosingh, Dina Schneidman-Duhovny, Aleksandar Rajkovic, John Pappas, Pablo Altschwager, Stephanie DeWard, Anne Fulton, Kathryn J Gray, Max Krall, Lakshmi Mehta, Lance H Rodan, Devereux N Saller, Jr, Deanna Steele, Deborah Stein, Svetlana A Yatsenko, François P Bernier, Anne M Slavotinek

Eur J Hum Genet. 2016 Oct; 24(10): 1436–1444. Published online 2016 Mar 23. doi: 10.1038/ejhg.2016.24

PMCID:: PMC5027675

Article PDF–541K

Select item 428968910.

Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome

Lwaki Ebarasi, Shazia Ashraf, Agnieszka Bierzynska, Heon Yung Gee, Hugh J. McCarthy, Svjetlana Lovric, Carolin E. Sadowski, Werner Pabst, Virginia Vega-Warner, Humphrey Fang, Ania Koziell, Michael A. Simpson, Ismail Dursun, Erkin Serdaroglu, Shawn Levy, Moin A. Saleem, Friedhelm Hildebrandt, Arindam Majumdar

Am J Hum Genet. 2015 Jan 8; 96(1): 153–161. doi: 10.1016/j.ajhg.2014.11.014

PMCID:: PMC4289689

Article PDF–3.3M

Select item 286529211.

Human CRB2 Inhibits γ-Secretase Cleavage of Amyloid Precursor Protein by Binding to the Presenilin Complex

Yachiyo Mitsuishi, Hiroshi Hasegawa, Akinori Matsuo, Wataru Araki, Toshiharu Suzuki, Shinji Tagami, Masayasu Okochi, Masatoshi Takeda, Ronald Roepman, Masaki Nishimura

J Biol Chem. 2010 May 14; 285(20): 14920–14931. Published online 2010 Mar 18. doi: 10.1074/jbc.M109.038760

PMCID:: PMC2865292

Article PDF–2.0M

Select item 458591512.

CRB2 completes a fully expressed Crumbs complex in the Retinal Pigment Epithelium

Antonio E. Paniagua, Saúl Herranz-Martín, David Jimeno, Ángela M. Jimeno, Saray López-Benito, Juan Carlos Arévalo, Almudena Velasco, José Aijón, Concepción Lillo

Sci Rep. 2015; 5: 14504. Published online 2015 Sep 25. doi: 10.1038/srep14504

PMCID:: PMC4585915

Article PDF–1.7M

Select item 180429113.

Structural Basis for the Methylation State-Specific Recognition of Histone H4-K20 by 53BP1 and Crb2 in DNA Repair

Maria Victoria Botuyan, Joseph Lee, Irene M. Ward, Ja-Eun Kim, James R. Thompson, Junjie Chen, Georges Mer

Cell. Author manuscript; available in PMC 2007 Dec 29.

Published in final edited form as: Cell. 2006 Dec 29; 127(7): 1361–1373. doi: 10.1016/j.cell.2006.10.043

PMCID:: PMC1804291

Article PDF–1.3M

Select item 289890414.

Follow-Up Association Studies of Chromosome Region 9q and Nonsyndromic Cleft Lip/Palate

Ariadne Letra, Renato Menezes, Manika Govil, Renata F. Fonseca, Toby McHenry, José M. Granjeiro, Eduardo E. Castilla, Iêda M. Orioli, Mary L. Marazita, Alexandre R. Vieira

Am J Med Genet A. Author manuscript; available in PMC 2010 Jul 7.

Published in final edited form as: Am J Med Genet A. 2010 Jul; 152A(7): 1701–1710. doi: 10.1002/ajmg.a.33482

PMCID:: PMC2898904

Article PDF–389K

Select item 180207715.

Mapping of transcription start sites of human retina expressed genes

Valeria Roni, Ronald Carpio, Bernd Wissinger

BMC Genomics. 2007; 8: 42. Published online 2007 Feb 7. doi: 10.1186/1471-2164-8-42

PMCID:: PMC1802077

Article PDF–578K

Select item 273408116.

DNA sequence and analysis of human chromosome 9

S. J. Humphray, K. Oliver, A. R. Hunt, R. W. Plumb, J. E. Loveland, K. L. Howe, T. D. Andrews, S. Searle, S. E. Hunt, C. E. Scott, M. C. Jones, R. Ainscough, J. P. Almeida, K. D. Ambrose, R. I. S. Ashwell, A. K. Babbage, S. Babbage, C. L. Bagguley, J. Bailey, R. Banerjee, D. J. Barker, K. F. Barlow, K. Bates, H. Beasley, O. Beasley, C. P. Bird, S. Bray-Allen, A. J. Brown, J. Y. Brown, D. Burford, W. Burrill, J. Burton, C. Carder, N. P. Carter, J. C. Chapman, Y. Chen, G. Clarke, S. Y. Clark, C. M. Clee, S. Clegg, R. E. Collier, N. Corby, M. Crosier, A. T. Cummings, J. Davies, P. Dhami, M. Dunn, I. Dutta, L. W. Dyer, M. E. Earthrowl, L. Faulkner, C. J. Fleming, A. Frankish, J. A. Frankland, L. French, D. G. Fricker, P. Garner, J. Garnett, J. Ghori, J. G. R. Gilbert, C. Glison, D. V. Grafham, S. Gribble, C. Griffiths, S. Griffiths-Jones, R. Grocock, J. Guy, R. E. Hall, S. Hammond, J. L. Harley, E. S. I. Harrison, E. A. Hart, P. D. Heath, C. D. Henderson, B. L. Hopkins, P. J. Howard, P. J. Howden, E. Huckle, C. Johnson, D. Johnson, A. A. Joy, M. Kay, S. Keenan, J. K. Kershaw, A. M. Kimberley, A. King, A. Knights, G. K. Laird, C. Langford, S. Lawlor, D. A. Leongamornlert, M. Leversha, C. Lloyd, D. M. Lloyd, J. Lovell, S. Martin, M. Mashreghi-Mohammadi, L. Matthews, S. McLaren, K. E. McLay, A. McMurray, S. Milne, T. Nickerson, J. Nisbett, G. Nordsiek, A. V. Pearce, A. I. Peck, K. M. Porter, R. Pandian, S. Pelan, B. Phillimore, S. Povey, Y. Ramsey, V. Rand, M. Scharfe, H. K. Sehra, R. Shownkeen, S. K. Sims, C. D. Skuce, M. Smith, C. A. Steward, D. Swarbreck, N. Sycamore, J. Tester, A. Thorpe, A. Tracey, A. Tromans, D. W. Thomas, M. Wall, J. M. Wallis, A. P. West, S. L. Whitehead, D. L. Willey, S. A. Williams, L. Wilming, P. W. Wray, L. Young, J. L. Ashurst, A. Coulson, H. Blöcker, R. Durbin, J. E. Sulston, T. Hubbard, M. J. Jackson, D. R. Bentley, S. Beck, J. Rogers, I. Dunham

Nature. Author manuscript; available in PMC 2009 Aug 28.

Published in final edited form as: Nature. 2004 May 27; 429(6990): 369–374. doi: 10.1038/nature02465

PMCID:: PMC2734081

Article PDF–1006K

Select item 263705017.

Large-Scale Proteomics and Phosphoproteomics of Urinary Exosomes

Patricia A. Gonzales, Trairak Pisitkun, Jason D. Hoffert, Dmitry Tchapyjnikov, Robert A. Star, Robert Kleta, Nam Sun Wang, Mark A. Knepper

J Am Soc Nephrol. 2009 Feb; 20(2): 363–379. doi: 10.1681/ASN.2008040406

PMCID:: PMC2637050

Article

Select item 377350518.

In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine

Simona Principe, E. Ellen Jones, Yunee Kim, Ankit Sinha, Julius O. Nyalwidhe, Jasmin Brooks, O. John Semmes, Dean A. Troyer, Raymond S. Lance, Thomas Kislinger, Richard R. Drake

Proteomics. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Proteomics. 2013 May; 13(0): 1667–1671. Published online 2013 Apr 23. doi: 10.1002/pmic.201200561

PMCID:: PMC3773505

Article PDF–630K

Select item 1023742219.

TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Article PDF–23M

Select item 135612920.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Article PDF–438K

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