Full text in PMC (nucleotide) for Gene (Select 260305) - PMC

Select item 60809251.

SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium

Rachayata Dharmat, Aiden Eblimit, Michael A. Robichaux, Zhixian Zhang, Thanh-Minh T. Nguyen, Sung Yun Jung, Feng He, Antrix Jain, Yumei Li, Jun Qin, Paul Overbeek, Ronald Roepman, Graeme Mardon, Theodore G. Wensel, Rui Chen

J Cell Biol. 2018 Aug 6; 217(8): 2851–2865. doi: 10.1083/jcb.201712117

PMCID:: PMC6080925

Abstract Article PDF–2.8M

Select item 50625892.

Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR

Kollu N. Rao, Wei Zhang, Linjing Li, Cecinio Ronquillo, Wolfgang Baehr, Hemant Khanna

Hum Mol Genet. 2016 May 15; 25(10): 2005–2012. Published online 2016 Mar 2. doi: 10.1093/hmg/ddw075

PMCID:: PMC5062589

Abstract Article PDF–928K

Select item 46350043.

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

Abstract Article PDF–7.7M

Select item 33830654.

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

Abstract Article PDF–2.0M

Select item 30169095.

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

Jungyeon Won, Caralina Marín de Evsikova, Richard S. Smith, Wanda L. Hicks, Malia M. Edwards, Chantal Longo-Guess, Tiansen Li, Jürgen K. Naggert, Patsy M. Nishina

Hum Mol Genet. 2011 Feb 1; 20(3): 482–496. Published online 2010 Nov 15. doi: 10.1093/hmg/ddq494

PMCID:: PMC3016909

Abstract Article PDF–1004K

Select item 4200056.

Erratum

Am J Hum Genet. 2002 Dec; 71(6): 1489.

Corrects:: Am J Hum Genet. 2002 Nov; 71(5): 1161–1167.

PMCID:: PMC420005

Correction PDF–16K

Select item 3850917.

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

Edgar Otto, Julia Hoefele, Rainer Ruf, Adelheid M. Mueller, Karl S. Hiller, Matthias T. F. Wolf, Maria J. Schuermann, Achim Becker, Ralf Birkenhäger, Ralf Sudbrak, Hans C. Hennies, Peter Nürnberg, Friedhelm Hildebrandt

Am J Hum Genet. 2002 Nov; 71(5): 1161–1167. Published online 2002 Aug 29. doi: 10.1086/344395

Correction in:: Am J Hum Genet. 2002 Dec; 71(6): 1489.

PMCID:: PMC385091

Abstract Article PDF–649K

Select item 3109928.

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

Abstract Article PDF–3.4M

Select item 3109809.

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

Abstract Article PDF–1.4M

Select item 13924110.

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

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