PMC Links for Gene (Select 79809) - PMC

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

Abstract Article

Select item 97449564.

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

Abstract Article PDF–532K

Select item 95876375.

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

Abstract Article PDF–5.0M

Select item 51238886.

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

Abstract Article PDF–3.0M

Select item 53417267.

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

Abstract Article PDF–2.7M

Select item 30713018.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Erica E. Davis, Qi Zhang, Qin Liu, Bill H. Diplas, Lisa M. Davey, Jane Hartley, Corinne Stoetzel, Katarzyna Szymanska, Gokul Ramaswami, Clare V. Logan, Donna M. Muzny, Alice C. Young, David A. Wheeler, Pedro Cruz, Margaret Morgan, Lora R. Lewis, Praveen Cherukuri, Baishali Maskeri, Nancy F. Hansen, James C. Mullikin, Robert W. Blakesley, Gerard G. Bouffard, NISC Comparative Sequencing Program, Gabor Gyapay, Susanne Reiger, Burkhard Tönshoff, Ilse Kern, Neveen A. Soliman, Thomas J. Neuhaus, Kathryn J. Swoboda, Hulya Kayserili, Tomas E. Gallagher, Richard A. Lewis, Carsten Bergmann, Edgar A. Otto, Sophie Saunier, Peter J. Scambler, Philip L. Beales, Joseph G. Gleeson, Eamonn R. Maher, Tania Attié-Bitach, Hélène Dollfus, Colin A. Johnson, Eric D. Green, Richard A. Gibbs, Friedhelm Hildebrandt, Eric A. Pierce, Nicholas Katsanis

Nat Genet. Author manuscript; available in PMC 2011 Sep 1.

Published in final edited form as: Nat Genet. 2011 Mar; 43(3): 189–196. Published online 2011 Jan 23. doi: 10.1038/ng.756

PMCID:: PMC3071301

Abstract Article PDF–1.9M

Select item 39130439.

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

Abstract Article PDF–3.0M

Select item 328387310.

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

Abstract Article

Select item 294777011.

TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia

Saikat Mukhopadhyay, Xiaohui Wen, Ben Chih, Christopher D. Nelson, William S. Lane, Suzie J. Scales, Peter K. Jackson

Genes Dev. 2010 Oct 1; 24(19): 2180–2193. doi: 10.1101/gad.1966210

PMCID:: PMC2947770

Abstract Article PDF–1.9M

Select item 794845212.

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

Abstract Article PDF–3.6M

Select item 600581613.

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

Abstract Article PDF–1.6M

Select item 276866714.

A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene

Ji Luo, Michael J. Emanuele, Danan Li, Chad J. Creighton, Michael R. Schlabach, Thomas F. Westbrook, Kwok-kin Wong, Stephen J. Elledge

Cell. Author manuscript; available in PMC 2009 Nov 29.

Published in final edited form as: Cell. 2009 May 29; 137(5): 835–848. doi: 10.1016/j.cell.2009.05.006

PMCID:: PMC2768667

Abstract Article PDF–4.0M

Select item 436785715.

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

Abstract Article PDF–3.1M

Select item 486917016.

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

Abstract Article PDF–2.0M

Select item 549522517.

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

Abstract Article PDF–1.3M

Select item 659455118.

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

Abstract Article PDF–1.4M

Select item 582692619.

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

Abstract Article PDF–2.3M

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

Abstract Article PDF–438K

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