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Items: 1 to 20 of 34

1.
Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype
Olubayo U. Kolawole, Cheryl Y. Gregory-Evans, Riyaz Bikoo, Albert Z. Huang, Kevin Gregory-Evans
Mol Vis. 2023; 29: 329–337. Published online 2023 Dec 15.
PMCID:
PMC10805330
AbstractArticlePDF–569K
2.
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series
Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho, Jr, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang
Orphanet J Rare Dis. 2022; 17: 146. Published online 2022 Apr 1. doi: 10.1186/s13023-022-02295-9
PMCID:
PMC8973795
AbstractArticlePDF–2.2M
3.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Int J Mol Sci. 2021 Jun; 22(12): 6410. Published online 2021 Jun 15. doi: 10.3390/ijms22126410
PMCID:
PMC8232641
AbstractArticlePDF–1.6M
4.
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family
Miguel de Sousa Dias, Christian P. Hamel, Isabelle Meunier, Juliette Varin, Steven Blanchard, Fiona Boyard, José-Alain Sahel, Christina Zeitz
Mol Vis. 2017; 23: 131–139. Published online 2017 Mar 18.
PMCID:
PMC5360453
AbstractArticlePDF–1.4M
5.
STAMP alters the growth of transformed and ovarian cancer cells
Yuanzheng He, John A Blackford, Jr, Elise C Kohn, S Stoney Simons, Jr
BMC Cancer. 2010; 10: 128. Published online 2010 Apr 7. doi: 10.1186/1471-2407-10-128
PMCID:
PMC2858746
AbstractArticlePDF–1.0M
6.
Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants
Jasmina Cehajic-Kapetanovic, Cristina Martinez-Fernandez de la Camara, Johannes Birtel, Salwah Rehman, Michelle E. McClements, Peter Charbel Issa, Andrew J Lotery, Robert E. MacLaren
Proc Natl Acad Sci U S A. 2022 Dec 6; 119(49): e2208707119. Published online 2022 Nov 29. doi: 10.1073/pnas.2208707119
PMCID:
PMC9897430
AbstractArticlePDF–5.8M
7.
STAMP, a Novel Predicted Factor Assisting TIF2 Actions in Glucocorticoid Receptor-Mediated Induction and Repression
Yuanzheng He, S. Stoney Simons, Jr.
Mol Cell Biol. 2007 Feb; 27(4): 1467–1485. Published online 2006 Nov 20. doi: 10.1128/MCB.01360-06
PMCID:
PMC1800712
AbstractArticlePDF–1.0M
8.
Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations
Xun Sun, James H. Park, Jessica Gumerson, Zhijian Wu, Anand Swaroop, Haohua Qian, Antonina Roll-Mecak, Tiansen Li
Proc Natl Acad Sci U S A. 2016 May 24; 113(21): E2925–E2934. Published online 2016 May 9. doi: 10.1073/pnas.1523201113
PMCID:
PMC4889371
AbstractArticlePDF–2.1M
9.
Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy
Panagiotis I. Sergouniotis, Christina Chakarova, Cian Murphy, Mirjana Becker, Eva Lenassi, Gavin Arno, Monkol Lek, Daniel G. MacArthur, UCL-Exomes Consortium, Shomi S. Bhattacharya, Anthony T. Moore, Graham E. Holder, Anthony G. Robson, Uwe Wolfrum, Andrew R. Webster, Vincent Plagnol
Am J Hum Genet. 2014 May 1; 94(5): 760–769. doi: 10.1016/j.ajhg.2014.04.003
PMCID:
PMC4067560
AbstractArticlePDF–1.7M
10.
Identification, Replication, and Fine-Mapping of Loci Associated with Adult Height in Individuals of African Ancestry
Amidou N'Diaye, Gary K. Chen, Cameron D. Palmer, Bing Ge, Bamidele Tayo, Rasika A. Mathias, Jingzhong Ding, Michael A. Nalls, Adebowale Adeyemo, Véronique Adoue, Christine B. Ambrosone, Larry Atwood, Elisa V. Bandera, Lewis C. Becker, Sonja I. Berndt, Leslie Bernstein, William J. Blot, Eric Boerwinkle, Angela Britton, Graham Casey, Stephen J. Chanock, Ellen Demerath, Sandra L. Deming, W. Ryan Diver, Caroline Fox, Tamara B. Harris, Dena G. Hernandez, Jennifer J. Hu, Sue A. Ingles, Esther M. John, Craig Johnson, Brendan Keating, Rick A. Kittles, Laurence N. Kolonel, Stephen B. Kritchevsky, Loic Le Marchand, Kurt Lohman, Jiankang Liu, Robert C. Millikan, Adam Murphy, Solomon Musani, Christine Neslund-Dudas, Kari E. North, Sarah Nyante, Adesola Ogunniyi, Elaine A. Ostrander, George Papanicolaou, Sanjay Patel, Curtis A. Pettaway, Michael F. Press, Susan Redline, Jorge L. Rodriguez-Gil, Charles Rotimi, Benjamin A. Rybicki, Babatunde Salako, Pamela J. Schreiner, Lisa B. Signorello, Andrew B. Singleton, Janet L. Stanford, Alex H. Stram, Daniel O. Stram, Sara S. Strom, Bhoom Suktitipat, Michael J. Thun, John S. Witte, Lisa R. Yanek, Regina G. Ziegler, Wei Zheng, Xiaofeng Zhu, Joseph M. Zmuda, Alan B. Zonderman, Michele K. Evans, Yongmei Liu, Diane M. Becker, Richard S. Cooper, Tomi Pastinen, Brian E. Henderson, Joel N. Hirschhorn, Guillaume Lettre, Christopher A. Haiman
PLoS Genet. 2011 Oct; 7(10): e1002298. Published online 2011 Oct 6. doi: 10.1371/journal.pgen.1002298
Correction in:
PLoS Genet. 2011 Nov; 7(11): 10.1371/annotation/58c67154-3f10-4155-9085-dcd6e3689008.
PMCID:
PMC3188544
AbstractArticlePDF–486K
11.
The transcriptome of human CD34+ hematopoietic stem-progenitor cells
Yeong C. Kim, Qingfa Wu, Jun Chen, Zhenyu Xuan, Yong-Chul Jung, Michael Q. Zhang, Janet D. Rowley, San Ming Wang
Proc Natl Acad Sci U S A. 2009 May 19; 106(20): 8278–8283. Published online 2009 Apr 30. doi: 10.1073/pnas.0903390106
PMCID:
PMC2688877
AbstractArticlePDF–737K
12.
Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly
Sergi Rodriguez-Calado, Petra Van Damme, Francesc Xavier Avilés, Ana Paula Candiota, Sebastian Tanco, Julia Lorenzo
Int J Mol Sci. 2023 Jan; 24(2): 1273. Published online 2023 Jan 9. doi: 10.3390/ijms24021273
PMCID:
PMC9867282
AbstractArticlePDF–2.5M
13.
Shared genetic susceptibility to ischemic stroke and coronary artery disease – a genome-wide analysis of common variants
Martin Dichgans, Rainer Malik, Inke R. König, Jonathan Rosand, Robert Clarke, Solveig Gretarsdottir, Gudmar Thorleifsson, Braxton D. Mitchell, Themistocles L. Assimes, Christopher Levi, Christopher J. O′Donnell, Myriam Fornage, Unnur Thorsteinsdottir, Bruce M. Psaty, Christian Hengstenberg, Sudha Seshadri, Jeanette Erdmann, Joshua C. Bis, Annette Peters, Giorgio B. Boncoraglio, Winfried März, James F. Meschia, Sekar Kathiresan, M. Arfan Ikram, Ruth McPherson, Kari Stefansson, Cathie Sudlow, Muredach P. Reilly, John R. Thompson, Pankaj Sharma, Jemma C. Hopewell, John C. Chambers, Hugh Watkins, Peter M. Rothwell, Robert Roberts, the METASTROKE Consortium, the CARDIoGRAM consortium, the C4D consortium, the International Stroke Genetics Consortium, Hugh S. Markus, Nilesh J. Samani, Martin Farrall, Heribert Schunkert
Stroke. Author manuscript; available in PMC 2015 Jan 1.
Published in final edited form as: Stroke. 2014 Jan; 45(1): 24–36. Published online 2013 Nov 21. doi: 10.1161/STROKEAHA.113.002707
PMCID:
PMC4112102
AbstractArticlePDF–979K
14.
CEMIP, acting as a scaffold protein for bridging GRAF1 and MIB1, promotes colorectal cancer metastasis via activating CDC42/MAPK pathway
Guojie Xu, Lei Zhao, Qingling Hua, Lanqing Wang, Hongli Liu, Zhenyu Lin, Min Jin, Jing Wang, Pengfei Zhou, Kunyu Yang, Gang Wu, Dandan Yu, Dejun Zhang, Tao Zhang
Cell Death Dis. 2023 Feb; 14(2): 167. Published online 2023 Feb 27. doi: 10.1038/s41419-023-05644-z
PMCID:
PMC9971195
AbstractArticlePDF–15M
15.
A genome-scale protein interaction profile of Drosophila p53 uncovers additional nodes of the human p53 network
Andrea Lunardi, Giulio Di Minin, Paolo Provero, Marco Dal Ferro, Marcello Carotti, Giannino Del Sal, Licio Collavin
Proc Natl Acad Sci U S A. 2010 Apr 6; 107(14): 6322–6327. Published online 2010 Mar 22. doi: 10.1073/pnas.1002447107
PMCID:
PMC2851947
AbstractArticlePDF–1.0M
16.
Expression of Conjoined Genes: Another Mechanism for Gene Regulation in Eukaryotes
Tulika Prakash, Vineet K. Sharma, Naoki Adati, Ritsuko Ozawa, Naveen Kumar, Yuichiro Nishida, Takayoshi Fujikake, Tadayuki Takeda, Todd D. Taylor
PLoS One. 2010; 5(10): e13284. Published online 2010 Oct 12. doi: 10.1371/journal.pone.0013284
PMCID:
PMC2953495
AbstractArticlePDF–1.0M
17.
Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins
Sascha E. Dho, Nancy Silva-Gagliardi, Fabio Morgese, Etienne Coyaud, Emily Lamoureux, Donna M. Berry, Brian Raught, C. Jane McGlade
Sci Rep. 2019; 9: 12471. Published online 2019 Aug 28. doi: 10.1038/s41598-019-48902-x
PMCID:
PMC6713736
AbstractArticlePDF–5.6M
18.
Exploiting TRIM37-driven centrosome dysfunction to kill breast cancer cells
Zhong Y. Yeow, Bramwell G. Lambrus, Rebecca Marlow, Kevin H. Zhan, Mary-Anne Durin, Lauren T. Evans, Phillip M. Scott, Thao Phan, Elizabeth Park, Lorena A. Ruiz, Daniela Moralli, Eleanor G. Knight, Luned M. Badder, Daniela Novo, Syed Haider, Catherine M. Green, Andrew NJ Tutt, Christopher J Lord, J. Ross Chapman, Andrew J. Holland
Nature. Author manuscript; available in PMC 2021 Sep 9.
Published in final edited form as: Nature. 2020 Sep; 585(7825): 447–452. Published online 2020 Sep 9. doi: 10.1038/s41586-020-2690-1
PMCID:
PMC7597367
AbstractArticlePDF–1.7M
19.
Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods
Lis Jakobsen, Katja Vanselow, Marie Skogs, Yusuke Toyoda, Emma Lundberg, Ina Poser, Lasse G Falkenby, Martin Bennetzen, Jens Westendorf, Erich A Nigg, Mathias Uhlen, Anthony A Hyman, Jens S Andersen
EMBO J. 2011 Apr 20; 30(8): 1520–1535. Published online 2011 Mar 11. doi: 10.1038/emboj.2011.63
PMCID:
PMC3102290
AbstractArticlePDF–1.3M
20.
Shotgun sequencing of the human transcriptome with ORF expressed sequence tags
Emmanuel Dias Neto, Ricardo Garcia Correa, Sergio Verjovski-Almeida, Marcelo R. S. Briones, Maria Aparecida Nagai, Wilson da Silva, Jr., Marco Antonio Zago, Silvana Bordin, Fernando Ferreira Costa, Gustavo Henrique Goldman, Alex F. Carvalho, Adriana Matsukuma, Gilson S. Baia, David H. Simpson, Adriana Brunstein, Paulo S. L. de Oliveira, Philipp Bucher, C. Victor Jongeneel, Michael J. O'Hare, Fernando Soares, Ricardo R. Brentani, Luis F. L. Reis, Sandro J. de Souza, Andrew J. G. Simpson
Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3491–3496. doi: 10.1073/pnas.97.7.3491
PMCID:
PMC16267
AbstractArticlePDF–111K

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