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Items: 1 to 20 of 26

1.
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants
Yingying Li, Liying Dai, Hong Xu, Jin Huang, Jinqiu Zhang, Zhenzhu Mei, Rui Zhang
Mol Genet Genomic Med. 2024 Mar; 12(3): e2399. Published online 2024 Mar 4. doi: 10.1002/mgg3.2399
PMCID:
PMC10912793
AbstractArticlePDF–9.2M
2.
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B
Luke Viehl, Daniel J. Wegner, Stanley P. Hmiel, Frances V. White, Sanjay Jain, F. S. Cole, Jennifer A. Wambach
Pediatr Nephrol. Author manuscript; available in PMC 2023 Feb 1.
Published in final edited form as: Pediatr Nephrol. 2023 Feb; 38(2): 605–609. Published online 2022 Jun 13. doi: 10.1007/s00467-022-05616-z
PMCID:
PMC9744956
AbstractArticlePDF–532K
3.
Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes
Weicheng Chen, Feifei Wang, Weijia Zeng, Xinyan Zhang, Libing Shen, Yuan Zhang, Xiangyu Zhou
Hum Genomics. 2022; 16: 48. Published online 2022 Oct 22. doi: 10.1186/s40246-022-00421-z
PMCID:
PMC9587637
AbstractArticlePDF–5.0M
4.
A novel heterotaxy gene: Expansion of the phenotype of TTC21B‐spectrum disease
Alanna Strong, Dong Li, Frank Mentch, Hakon Hakonarson
Am J Med Genet A. 2021 Apr; 185(4): 1266–1269. Published online 2021 Feb 5. doi: 10.1002/ajmg.a.62093
PMCID:
PMC9290470
AbstractArticlePDF–643K
5.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
6.
A conserved acetylation switch enables pharmacological control of tubby-like protein stability
Evan M. Kerek, Kevin H. Yoon, Shu Y. Luo, Jerry Chen, Robert Valencia, Olivier Julien, Andrew J. Waskiewicz, Basil P. Hubbard
J Biol Chem. 2021 Jan-Jun; 296: 100073. Published online 2020 Nov 23. doi: 10.1074/jbc.RA120.015839
PMCID:
PMC7948452
AbstractArticlePDF–3.6M
7.
PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling
Adnan Shami Shah, Alex G. Batrouni, Dongsung Kim, Amith Punyala, Wendy Cao, Chun Han, Michael L. Goldberg, Marcus B. Smolka, Jeremy M. Baskin
Cell Rep. Author manuscript; available in PMC 2019 Jun 26.
Published in final edited form as: Cell Rep. 2019 May 14; 27(7): 2157–2170.e8. doi: 10.1016/j.celrep.2019.04.060
PMCID:
PMC6594551
AbstractArticlePDF–1.4M
8.
Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B
Morag R. Hunter, Geoffrey G. Hesketh, Tomasz H. Benedyk, Anne-Claude Gingras, Stephen C. Graham
J Mol Biol. 2018 Jul 6; 430(14): 2153–2163. doi: 10.1016/j.jmb.2018.05.019
PMCID:
PMC6005816
AbstractArticlePDF–1.6M
9.
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
AbstractArticlePDF–2.3M
10.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
11.
Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing
Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114
PMCID:
PMC5495225
AbstractArticlePDF–1.3M
12.
Intraflagellar transport-A complex mediates ciliary entry and retrograde trafficking of ciliary G protein–coupled receptors
Tomoaki Hirano, Yohei Katoh, Kazuhisa Nakayama
Mol Biol Cell. 2017 Feb 1; 28(3): 429–439. doi: 10.1091/mbc.E16-11-0813
PMCID:
PMC5341726
AbstractArticlePDF–2.7M
13.
Role for the IFT-A complex in selective transport to the primary cilium
Wenxiang Fu, Lei Wang, Sehyun Kim, Ji Li, Brian David Dynlacht
Cell Rep. Author manuscript; available in PMC 2016 Nov 25.
Published in final edited form as: Cell Rep. 2016 Nov 1; 17(6): 1505–1517. doi: 10.1016/j.celrep.2016.10.018
PMCID:
PMC5123888
AbstractArticlePDF–3.0M
14.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491
PMCID:
PMC4869170
AbstractArticlePDF–2.0M
15.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
16.
New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing
Fernanda Luisa Basei, Gabriela Vaz Meirelles, Germanna Lima Righetto, Deivid Lucas dos Santos Migueleti, Juliana Helena Costa Smetana, Jörg Kobarg
Proteome Sci. 2015; 13: 11. Published online 2015 Feb 26. doi: 10.1186/s12953-015-0065-6
PMCID:
PMC4367857
AbstractArticlePDF–3.1M
17.
A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS
Evelyne Huynh Cong, Albane A. Bizet, Olivia Boyer, Stéphanie Woerner, Olivier Gribouval, Emilie Filhol, Christelle Arrondel, Sophie Thomas, Flora Silbermann, Guillaume Canaud, Jamil Hachicha, Nasr Ben Dhia, Marie-Noëlle Peraldi, Kais Harzallah, Daouia Iftene, Laurent Daniel, Marjolaine Willems, Laure-Hélène Noel, Christine Bole-Feysot, Patrick Nitschké, Marie-Claire Gubler, Géraldine Mollet, Sophie Saunier, Corinne Antignac
J Am Soc Nephrol. 2014 Nov; 25(11): 2435–2443. Published online 2014 May 29. doi: 10.1681/ASN.2013101126
PMCID:
PMC4214529
AbstractArticle
18.
Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence
Beate St Pourcain, David H Skuse, William P Mandy, Kai Wang, Hakon Hakonarson, Nicholas J Timpson, David M Evans, John P Kemp, Susan M Ring, Wendy L McArdle, Jean Golding, George Davey Smith
Mol Autism. 2014; 5: 18. Published online 2014 Feb 24. doi: 10.1186/2040-2392-5-18
PMCID:
PMC3940728
AbstractArticlePDF–962K
19.
Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy
Edgar A. Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J. Allen, Weibin Zhou, Rannar Airik, Toby W. Hurd, Amiya K. Ghosh, Matthias T. Wolf, Bernd Hoppe, Thomas J. Neuhaus, Detlef Bockenhauer, David V. Milford, Neveen A. Soliman, the GPN Study Group, Corinne Antignac, Sophie Saunier, Colin A. Johnson, Friedhelm Hildebrandt
J Med Genet. Author manuscript; available in PMC 2014 Feb 4.
Published in final edited form as: J Med Genet. 2011 Feb; 48(2): 105–116. Published online 2010 Nov 10. doi: 10.1136/jmg.2010.082552
Correction in:
J Med Genet. 2015 Dec; 52(12): 866.
PMCID:
PMC3913043
AbstractArticlePDF–3.0M
20.
Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation
Cecilia Gascue, Perciliz L. Tan, Magdalena Cardenas-Rodriguez, Gabriela Libisch, Tamara Fernandez-Calero, Yangfan P. Liu, Soledad Astrada, Carlos Robello, Hugo Naya, Nicholas Katsanis, Jose L. Badano
J Cell Sci. 2012 Jan 15; 125(2): 362–375. doi: 10.1242/jcs.089375
PMCID:
PMC3283873
AbstractArticle

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