PMC Links for Gene (Select 51259) - PMC

Select item 13774941.

A gene for Meckel syndrome maps to chromosome 11q13.

J Roume, E Genin, V Cormier-Daire, H W Ma, B Mehaye, T Attie, F Razavi-Encha, C Fallet-Bianco, A Buenerd, F Clerget-Darpoux, A Munnich, M Le Merrer

Am J Hum Genet. 1998 Oct; 63(4): 1095–1101. doi: 10.1086/302062

PMCID:: PMC1377494

Abstract

Select item 11806922.

Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation

Enza Maria Valente, Damiano Carmelo Salpietro, Francesco Brancati, Enrico Bertini, Tiziana Galluccio, Gaetano Tortorella, Silvana Briuglia, Bruno Dallapiccola

Am J Hum Genet. 2003 Sep; 73(3): 663–670. Published online 2003 Aug 7. doi: 10.1086/378241

PMCID:: PMC1180692

Abstract Article PDF–258K

Select item 11806913.

Linkage Analysis in Families with Joubert Syndrome Plus Oculo-Renal Involvement Identifies the CORS2 Locus on Chromosome 11p12-q13.3

Lesley C. Keeler, Sarah E. Marsh, Esther P. Leeflang, Christopher G. Woods, László Sztriha, Lihadh Al-Gazali, Aithala Gururaj, Joseph G. Gleeson

Am J Hum Genet. 2003 Sep; 73(3): 656–662. Published online 2003 Aug 13. doi: 10.1086/378206

PMCID:: PMC1180691

Abstract Article PDF–379K

Select item 28017454.

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg

Am J Hum Genet. 2010 Jan 8; 86(1): 93–97. doi: 10.1016/j.ajhg.2009.12.007

Correction in:: Am J Hum Genet. 2010 Feb 12; 86(2): 294.

PMCID:: PMC2801745

Abstract Article PDF–251K

Select item 80767665.

NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate

Luigi D’Angelo, Elisa Astro, Monica De Luise, Ivana Kurelac, Nikkitha Umesh-Ganesh, Shujing Ding, Ian M. Fearnley, Giuseppe Gasparre, Massimo Zeviani, Anna Maria Porcelli, Erika Fernandez-Vizarra, Luisa Iommarini

Cell Rep. 2021 Apr 20; 35(3): 109002. Published online 2021 Apr 21. doi: 10.1016/j.celrep.2021.109002

PMCID:: PMC8076766

Abstract Article

Select item 28940126.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli, Jeong Ho Lee, Jennifer L. Silhavy, Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Sveva Romani, Barbara Illi, Matthew Adams, Katarzyna Szymanska, Annalisa Mazzotta, Ji Eun Lee, Jerlyn C. Tolentino, Dominika Swistun, Carmelo D. Salpietro, Carmelo Fede, Stacey Gabriel, Carsten Russ, Kristian Cibulskis, Carrie Sougnez, Friedhelm Hildebrandt, Edgar A. Otto, Susanne Held, Bill H. Diplas, Erica Davis, Mario Mikula, Charles M. Strom, Bruria Ben-Ze’ev, Dorit Lev, Tally Lerman Sagie, Marina Michelson, Yuval Yaron, Amanda Krause, Eugen Boltshauser, Nadia Elkhartoufi, Joelle Roume, Stavit Shalev, Arnold Munnich, Sophie Saunier, Chris Inglehearn, Ali Saad, Adila Alkindy, Sophie Thomas, Michel Vekemans, Bruno Dallapiccola, Nicholas Katsanis, Colin A. Johnson, Tania Attié-Bitach, Joseph G. Gleeson

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

Published in final edited form as: Nat Genet. 2010 Jul; 42(7): 619–625. Published online 2010 May 30. doi: 10.1038/ng.594

PMCID:: PMC2894012

Abstract Article PDF–2.5M

Select item 36716107.

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Jeong Ho Lee, Jennifer L. Silhavy, Ji Eun Lee, Lihadh Al-Gazali, Sophie Thomas, Erica E. Davis, Stephanie L. Bielas, Kiley J. Hill, Miriam Iannicelli, Francesco Brancati, Stacey B. Gabriel, Carsten Russ, Clare V. Logan, Saghira Malik Sharif, Christopher P. Bennett, Masumi Abe, Friedhelm Hildebrandt, Bill H. Diplas, Tania Attié-Bitach, Nicholas Katsanis, Anna Rajab, Roshan Koul, Laszlo Sztriha, Elizabeth R. Waters, Susan Ferro-Novick, C. Geoffrey Woods, Colin A. Johnson, Enza Maria Valente, Maha S. Zaki, Joseph G. Gleeson

Science. Author manuscript; available in PMC 2013 Jun 4.

Published in final edited form as: Science. 2012 Feb 24; 335(6071): 966–969. Published online 2012 Jan 26. doi: 10.1126/science.1213506

PMCID:: PMC3671610

Abstract Article PDF–1.6M

Select item 36573838.

Basal Vertebrates Clarify the Evolutionary History of Ciliopathy-Associated Genes Tmem138 and Tmem216

Byrappa Venkatesh, Vydianathan Ravi, Alison P. Lee, Wesley C. Warren, Sydney Brenner

Mol Biol Evol. 2013 Jan; 30(1): 62–65. Published online 2012 Aug 30. doi: 10.1093/molbev/mss215

PMCID:: PMC3657383

Abstract Article PDF–574K

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 558080010.

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

Nils J. Lambacher, Ange-Line Bruel, Teunis J. P. van Dam, Katarzyna Szymańska, Gisela G. Slaats, Stefanie Kuhns, Gavin J. McManus, Julie E. Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Burglen, Diane Doummar, Jean-Baptiste Rivière, Laurence Faivre, Tania Attié-Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Christel Thauvin-Robinet, Oliver E. Blacque

Nat Cell Biol. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Nat Cell Biol. 2016 Jan; 18(1): 122–131. Published online 2015 Nov 23. doi: 10.1038/ncb3273

PMCID:: PMC5580800

Abstract Article PDF–2.4M

Select item 31093411.

Cloning and Functional Analysis of cDNAs with Open Reading Frames for 300 Previously Undefined Genes Expressed in CD34+ Hematopoietic Stem/Progenitor Cells

Qing-Hua Zhang, Min Ye, Xin-Yan Wu, Shuang-Xi Ren, Meng Zhao, Chun-Jun Zhao, Gang Fu, Yu Shen, Hui-Yong Fan, Gang Lu, Ming Zhong, Xiang-Ru Xu, Ze-Guang Han, Ji-Wang Zhang, Jiong Tao, Qiu-Hua Huang, Jun Zhou, Geng-Xi Hu, Jian Gu, Sai-Juan Chen, Zhu Chen

Genome Res. 2000 Oct; 10(10): 1546–1560. doi: 10.1101/gr.140200

PMCID:: PMC310934

Abstract Article PDF–1.3M

Select item 926261412.

A dual-activity topoisomerase complex regulates mRNA translation and turnover

Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang

Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538

PMCID:: PMC9262614

Abstract Article PDF–3.6M

Select item 268304713.

Ubiquitin-mediated proteolysis of HuR by heat shock

Kotb Abdelmohsen, Subramanya Srikantan, Xiaoling Yang, Ashish Lal, Hyeon Ho Kim, Yuki Kuwano, Stefanie Galban, Kevin G Becker, Davida Kamara, Rafael de Cabo, Myriam Gorospe

EMBO J. 2009 May 6; 28(9): 1271–1282. Published online 2009 Mar 26. doi: 10.1038/emboj.2009.67

PMCID:: PMC2683047

Abstract Article PDF–1.4M

Select item 508937414.

A dynamic protein interaction landscape of the human centrosome-cilium interface

Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier

Cell. Author manuscript; available in PMC 2016 Dec 3.

Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065

PMCID:: PMC5089374

Abstract Article PDF–1.5M

Select item 13924115.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 317805916.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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