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Items: 14

1.
Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone
Wesley R. Lewis, Katie L. Bales, Dustin Z. Revell, Mandy J. Croyle, Staci E. Engle, Cheng Jack Song, Erik B. Malarkey, Cedric R. Uytingco, Dan Shan, Patrick J. Antonellis, Tim R. Nagy, Robert A. Kesterson, Michal M. Mrug, Jeffrey R. Martens, Nicolas F. Berbari, Alecia K. Gross, Bradley K. Yoder
FASEB J. 2019 Jan; 33(1): 1440–1455. Published online 2018 Aug 22. doi: 10.1096/fj.201801149R
PMCID:
PMC6355093
Article
2.
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms
Ozanna Burnicka-Turek, Jeffrey D. Steimle, Wenhui Huang, Lindsay Felker, Anna Kamp, Junghun Kweon, Michael Peterson, Roger H. Reeves, Cheryl L. Maslen, Peter J. Gruber, Xinan H. Yang, Jay Shendure, Ivan P. Moskowitz
Hum Mol Genet. 2016 Jul 15; 25(14): 3011–3028. Published online 2016 Jun 23. doi: 10.1093/hmg/ddw155
PMCID:
PMC5181596
ArticlePDF–1.1M
3.
Genetic link between renal birth defects and congenital heart disease
Jovenal T. San Agustin, Nikolai Klena, Kristi Granath, Ashok Panigrahy, Eileen Stewart, William Devine, Lara Strittmatter, Julie A. Jonassen, Xiaoqin Liu, Cecilia W. Lo, Gregory J. Pazour
Nat Commun. 2016; 7: 11103. Published online 2016 Mar 22. doi: 10.1038/ncomms11103
Correction in:
Nat Commun. 2016; 7: 11910.
PMCID:
PMC4804176
ArticlePDF–3.9M
4.
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone
Chunmei Li, Victor L. Jensen, Kwangjin Park, Julie Kennedy, Francesc R. Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F. Reiter, Oliver E. Blacque, Enza Maria Valente, Michel R. Leroux
PLoS Biol. 2016 Mar; 14(3): e1002416. Published online 2016 Mar 16. doi: 10.1371/journal.pbio.1002416
PMCID:
PMC4794247
ArticlePDF–8.5M
5.
Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling
Laura E. Yee, Francesc R. Garcia-Gonzalo, Rachel V. Bowie, Chunmei Li, Julie K. Kennedy, Kaveh Ashrafi, Oliver E. Blacque, Michel R. Leroux, Jeremy F. Reiter
PLoS Genet. 2015 Nov; 11(11): e1005627. Published online 2015 Nov 5. doi: 10.1371/journal.pgen.1005627
PMCID:
PMC4635004
ArticlePDF–7.7M
6.
Global genetic analysis in mice unveils central role for cilia in congenital heart disease
You Li, Nikolai T. Klena, George C Gabriel, Xiaoqin Liu, Andrew J. Kim, Kristi Lemke, Yu Chen, Bishwanath Chatterjee, William Devine, Rama Rao Damerla, Chien-fu Chang, Hisato Yagi, Jovenal T. San Agustin, Mohamed Thahir, Shane Anderton, Caroline Lawhead, Anita Vescovi, Herbert Pratt, Judy Morgan, Leslie Haynes, Cynthia L. Smith, Janan T. Eppig, Laura Reinholdt, Richard Francis, Linda Leatherbury, Madhavi K. Ganapathiraju, Kimimasa Tobita, Gregory J. Pazour, Cecilia W. Lo
Nature. Author manuscript; available in PMC 2015 Nov 28.
Published in final edited form as: Nature. 2015 May 28; 521(7553): 520–524. Published online 2015 Mar 25. doi: 10.1038/nature14269
PMCID:
PMC4617540
ArticlePDF–518K
7.
Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis
Shobi Veleri, Souparnika H. Manjunath, Robert N. Fariss, Helen May-Simera, Matthew Brooks, Trevor A. Foskett, Chun Gao, Teresa A. Longo, Pinghu Liu, Kunio Nagashima, Rivka A. Rachel, Tiansen Li, Lijin Dong, Anand Swaroop
Nat Commun. Author manuscript; available in PMC 2014 Dec 20.
Published in final edited form as: Nat Commun. 2014; 5: 4207. Published online 2014 Jun 20. doi: 10.1038/ncomms5207
PMCID:
PMC4096663
ArticlePDF–1.5M
8.
Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways
Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazan, Priya Kulkarni, Francesc R. Garcia-Gonzalo, Allen D. Seol, John F. O'Toole, Susanne Held, Heiko M. Reutter, William S. Lane, Muhammad Arshad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel A. Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson
Cell. Author manuscript; available in PMC 2012 Jun 26.
Published in final edited form as: Cell. 2011 May 13; 145(4): 513–528. doi: 10.1016/j.cell.2011.04.019
PMCID:
PMC3383065
ArticlePDF–2.0M
9.
A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition
Francesc R. Garcia-Gonzalo, Kevin C. Corbit, María Salomé Sirerol-Piquer, Gokul Ramaswami, Edgar A. Otto, Thomas R. Noriega, Allen D. Seol, Jon F. Robinson, Christopher L. Bennett, Dragana J. Josifova, José Manuel García-Verdugo, Nicholas Katsanis, Friedhelm Hildebrandt, Jeremy F. Reiter
Nat Genet. Author manuscript; available in PMC 2012 Feb 1.
Published in final edited form as: Nat Genet. 2011 Aug; 43(8): 776–784. Published online 2011 Jul 3. doi: 10.1038/ng.891
PMCID:
PMC3145011
ArticlePDF–2.3M
10.
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
Zhenxi Zhang, Francesco Lotti, Kimberly Dittmar, Ihab Younis, Lili Wan, Mumtaz Kasim, Gideon Dreyfuss
Cell. Author manuscript; available in PMC 2008 Jul 9.
Published in final edited form as: Cell. 2008 May 16; 133(4): 585–600. doi: 10.1016/j.cell.2008.03.031
PMCID:
PMC2446403
ArticlePDF–1.8M
11.
CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa
Abdul Noor, Christian Windpassinger, Megha Patel, Beata Stachowiak, Anna Mikhailov, Matloob Azam, Muhammad Irfan, Zahid Kamal Siddiqui, Farooq Naeem, Andrew D. Paterson, Muhammad Lutfullah, John B. Vincent, Muhammad Ayub
Am J Hum Genet. 2008 Apr 11; 82(4): 1011–1018. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.01.021
PMCID:
PMC2427291
ArticlePDF–1.2M
12.
RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer
Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki
Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600
PMCID:
PMC310992
ArticlePDF–3.4M
13.
Normalization and Subtraction of Cap-Trapper-Selected cDNAs to Prepare Full-Length cDNA Libraries for Rapid Discovery of New Genes
Piero Carninci, Yuko Shibata, Norihito Hayatsu, Yuichi Sugahara, Kazuhiro Shibata, Masayoshi Itoh, Hideaki Konno, Yasushi Okazaki, Masami Muramatsu, Yoshihide Hayashizaki
Genome Res. 2000 Oct; 10(10): 1617–1630. doi: 10.1101/gr.145100
PMCID:
PMC310980
ArticlePDF–1.4M
14.
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
ArticlePDF–118K

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