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Items: 1 to 20 of 23

1.
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome
Hongjun Fei, Yi Wu, Yanlin Wang, Junyu Zhang
Mol Genet Genomic Med. 2022 Mar; 10(3): e1877. Published online 2022 Jan 29. doi: 10.1002/mgg3.1877
PMCID:
PMC8922956
ArticlePDF–766K
2.
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants
Xiujuan Zhang, Yue Shen, Ping Li, Ruikun Cai, Chao Lu, Qian Li, Cuixia Chen, Yufei Yu, Tingting Cheng, Xian Wang, Minna Luo, Muqing Cao, Zongfu Cao, Xu Ma
Mol Genet Genomic Med. 2021 Jun; 9(6): e1682. Published online 2021 Apr 6. doi: 10.1002/mgg3.1682
PMCID:
PMC8222854
ArticlePDF–872K
3.
Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred With Oral-Facial-Digital Syndrome Type VI
Yavuz Bayram, Hatip Aydin, Tomasz Gambin, Zeynep Coban Akdemir, Mehmed M. Atik, Ender Karaca, Ali Karaman, Davut Pehlivan, Shalini N. Jhangiani, Richard A. Gibbs, James R. Lupski
Am J Med Genet A. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Am J Med Genet A. 2015 Sep; 167(9): 2132–2137. Published online 2015 Apr 6. doi: 10.1002/ajmg.a.37092
PMCID:
PMC4545386
ArticlePDF–657K
4.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Marta Romani, Francesca Mancini, Alessia Micalizzi, Andrea Poretti, Elide Miccinilli, Patrizia Accorsi, Emanuela Avola, Enrico Bertini, Renato Borgatti, Romina Romaniello, Serdar Ceylaner, Giangennaro Coppola, Stefano D’Arrigo, Lucio Giordano, Andreas R. Janecke, Mario Lituania, Kathrin Ludwig, Loreto Martorell, Tommaso Mazza, Sylvie Odent, Lorenzo Pinelli, Pilar Poo, Margherita Santucci, Sabrina Signorini, Alessandro Simonati, Ronen Spiegel, Franco Stanzial, Maja Steinlin, Brahim Tabarki, Nicole I. Wolf, Federica Zibordi, Eugen Boltshauser, Enza Maria Valente
Hum Genet. 2015; 134(1): 123–126. Published online 2014 Nov 19. doi: 10.1007/s00439-014-1508-3
PMCID:
PMC4282684
ArticlePDF–354K
5.
Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population
Myriam Srour, Jeremy Schwartzentruber, Fadi F. Hamdan, Luis H. Ospina, Lysanne Patry, Damian Labuda, Christine Massicotte, Sylvia Dobrzeniecka, José-Mario Capo-Chichi, Simon Papillon-Cavanagh, Mark E. Samuels, Kym M. Boycott, Michael I. Shevell, Rachel Laframboise, Valérie Désilets, FORGE Canada Consortium, Bruno Maranda, Guy A. Rouleau, Jacek Majewski, Jacques L. Michaud
Am J Hum Genet. 2012 Apr 6; 90(4): 693–700. doi: 10.1016/j.ajhg.2012.02.011
PMCID:
PMC3322222
ArticlePDF–531K
6.
A Genome-Wide Association Study Identifies Variants in Casein Kinase II (CSNK2A2) to be Associated with Leukocyte Telomere Length in a Punjabi Sikh Diabetic Cohort
Richa Saxena, Andrew Bjonnes, Jennifer Prescott, Patrick Dib, Praveen Natt, Jacqueline Lane, Megan Lerner, Jackie A. Cooper, Yuanqing Ye, Ka Wah Li, Cécilia G. Maubaret, Veryan Codd, Daniel Brackett, Lisa Mirabello, Peter Kraft, Colin P. Dinney, Donald Stowell, Marvin Peyton, Sarju Ralhan, Gurpreet S. Wander, Narinder K. Mehra, Klelia D. Salpea, Jian Gu, Xifeng Wu, Massimo Mangino, David J. Hunter, Immaculata De Vivo, Steve E. Humphries, Nilesh J. Samani, Tim D. Spector, Sharon A. Savage, Dharambir K. Sanghera
Circ Cardiovasc Genet. Author manuscript; available in PMC 2015 Jun 1.
Published in final edited form as: Circ Cardiovasc Genet. 2014 Jun; 7(3): 287–295. Published online 2014 May 3. doi: 10.1161/CIRCGENETICS.113.000412
PMCID:
PMC4106467
ArticlePDF–1.4M
7.
Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes
Ranad Shaheen, Eissa Faqeih, Muneera J Alshammari, Abdulrahman Swaid, Lihadh Al-Gazali, Elham Mardawi, Shinu Ansari, Sameera Sogaty, Mohammed Z Seidahmed, Muhammed I AlMotairi, Chantal Farra, Wesam Kurdi, Shatha Al-Rasheed, Fowzan S Alkuraya
Eur J Hum Genet. 2013 Jul; 21(7): 762–768. Published online 2012 Nov 21. doi: 10.1038/ejhg.2012.254
PMCID:
PMC3722952
ArticlePDF–1.4M
8.
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies
Rama Rao Damerla, Cheng Cui, George C. Gabriel, Xiaoqin Liu, Branch Craige, Brian C. Gibbs, Richard Francis, You Li, Bishwanath Chatterjee, Jovenal T. San Agustin, Thibaut Eguether, Ramiah Subramanian, George B. Witman, Jacques L. Michaud, Gregory J. Pazour, Cecilia W. Lo
Hum Mol Genet. 2015 Jul 15; 24(14): 3994–4005. Published online 2015 Apr 15. doi: 10.1093/hmg/ddv137
PMCID:
PMC4476446
ArticlePDF–1.4M
9.
Ovarian tumorB1-mediated heat shock transcription factor 1 deubiquitination is critical for glycolysis and development of endometriosis
Xi Ling, Jiayi Lu, Xiaoyun Wang, Lan Liu, Lu Liu, Yadi Wang, Yujun Sun, Chune Ren, Chao Lu, Zhenhai Yu
iScience. 2022 Nov 18; 25(11): 105363. Published online 2022 Oct 14. doi: 10.1016/j.isci.2022.105363
PMCID:
PMC9626688
ArticlePDF–6.0M
10.
A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition
Yahya Benslimane, María Sánchez‐Osuna, Jasmin Coulombe‐Huntington, Thierry Bertomeu, Danielle Henry, Caroline Huard, Éric Bonneil, Pierre Thibault, Mike Tyers, Lea Harrington
Aging Cell. 2021 Apr; 20(4): e13331. Published online 2021 Mar 4. doi: 10.1111/acel.13331
PMCID:
PMC8045932
ArticlePDF–1.9M
11.
A Human MAP Kinase Interactome
Sourav Bandyopadhyay, Chih-yuan Chiang, Jyoti Srivastava, Merril Gersten, Suhaila White, Russell Bell, Cornelia Kurschner, Christopher H. Martin, Mike Smoot, Sudhir Sahasrabudhe, Diane L. Barber, Sumit K. Chanda, Trey Ideker
Nat Methods. Author manuscript; available in PMC 2011 Apr 1.
Published in final edited form as: Nat Methods. 2010 Oct; 7(10): 801–805. doi: 10.1038/nmeth.1506
PMCID:
PMC2967489
ArticlePDF–1.2M
12.
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
ArticlePDF–111K
13.
Protein interactome reveals converging molecular pathways among autism disorders
Yasunari Sakai, Chad A. Shaw, Brian C. Dawson, Diana V. Dugas, Zaina Al-Mohtaseb, David E. Hill, Huda Y. Zoghbi
Sci Transl Med. Author manuscript; available in PMC 2011 Dec 8.
Published in final edited form as: Sci Transl Med. 2011 Jun 8; 3(86): 86ra49. doi: 10.1126/scitranslmed.3002166
PMCID:
PMC3169432
ArticlePDF–6.0M
14.
Competitive binding of E3 ligases TRIM26 and WWP2 controls SOX2 in glioblastoma
Tatenda Mahlokozera, Bhuvic Patel, Hao Chen, Patrick Desouza, Xuan Qu, Diane D. Mao, Daniel Hafez, Wei Yang, Rukayat Taiwo, Mounica Paturu, Afshin Salehi, Amit D. Gujar, Gavin P. Dunn, Nima Mosammaparast, Allegra A. Petti, Hiroko Yano, Albert H. Kim
Nat Commun. 2021; 12: 6321. Published online 2021 Nov 3. doi: 10.1038/s41467-021-26653-6
PMCID:
PMC8566473
ArticlePDF–2.7M
15.
The human cytoplasmic dynein interactome reveals novel activators of motility
William B Redwine, Morgan E DeSantis, Ian Hollyer, Zaw Min Htet, Phuoc Tien Tran, Selene K Swanson, Laurence Florens, Michael P Washburn, Samara L Reck-Peterson
eLife. 2017; 6: e28257. Published online 2017 Jul 18. doi: 10.7554/eLife.28257
PMCID:
PMC5533585
ArticlePDF–5.9M
16.
Multiplexed kinase interactome profiling quantifies cellular network activity and plasticity
Martin Golkowski, Andrea Lius, Tanmay Sapre, Ho-Tak Lau, Taylor Moreno, Dustin J. Maly, Shao-En Ong
Mol Cell. Author manuscript; available in PMC 2023 Apr 4.
Published in final edited form as: Mol Cell. 2023 Mar 2; 83(5): 803–818.e8. Published online 2023 Feb 2. doi: 10.1016/j.molcel.2023.01.015
PMCID:
PMC10072906
ArticlePDF–4.2M
17.
Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics
Eric J. Bennett, John Rush, Steven P. Gygi, J. Wade Harper
Cell. Author manuscript; available in PMC 2011 Dec 10.
Published in final edited form as: Cell. 2010 Dec 10; 143(6): 951–965. doi: 10.1016/j.cell.2010.11.017
PMCID:
PMC3008586
ArticlePDF–3.0M
18.
Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases
Marija Buljan, Rodolfo Ciuffa, Audrey van Drogen, Anton Vichalkovski, Martin Mehnert, George Rosenberger, Sohyon Lee, Markku Varjosalo, Lucia Espona Pernas, Vincent Spegg, Berend Snijder, Ruedi Aebersold, Matthias Gstaiger
Mol Cell. 2020 Aug 6; 79(3): 504–520.e9. doi: 10.1016/j.molcel.2020.07.001
PMCID:
PMC7427327
Article
19.
VIRMA mediates preferential m6A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation
Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu
Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0
PMCID:
PMC5826926
ArticlePDF–2.3M
20.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
ArticlePDF–3.8M

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