PMC Links for Nucleotide (Select 1676317314) - PMC

Select item 41061401.

Phenotypic Characterization of 3 Families With Autosomal Dominant Retinitis Pigmentosa Due to Mutations in KLHL7

Yuquan Wen, Kirsten G. Locke, Martin Klein, Sara J. Bowne, Lori S. Sullivan, Joseph W. Ray, Stephen P. Daiger, David G. Birch, Dianna K. Hughbanks-Wheaton

Arch Ophthalmol. Author manuscript; available in PMC 2014 Jul 22.

Published in final edited form as: Arch Ophthalmol. 2011 Nov; 129(11): 1475–1482. doi: 10.1001/archophthalmol.2011.307

PMCID:: PMC4106140

Article PDF–2.2M

Select item 31909392.

Ubiquitin Ligase Activity of Cul3-KLHL7 Protein Is Attenuated by Autosomal Dominant Retinitis Pigmentosa Causative Mutation

Yu Kigoshi, Fuminori Tsuruta, Tomoki Chiba

J Biol Chem. 2011 Sep 23; 286(38): 33613–33621. Published online 2011 Aug 2. doi: 10.1074/jbc.M111.245126

PMCID:: PMC3190939

Article PDF–2.1M

Select item 26949743.

Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

James S. Friedman, Joseph W. Ray, Naushin Waseem, Kory Johnson, Matthew J. Brooks, Therése Hugosson, Debra Breuer, Kari E. Branham, Daniel S. Krauth, Sara J. Bowne, Lori S. Sullivan, Vesna Ponjavic, Lotta Gränse, Ritu Khanna, Edward H. Trager, Linn M. Gieser, Dianna Hughbanks-Wheaton, Radu I. Cojocaru, Noor M. Ghiasvand, Christina F. Chakarova, Magnus Abrahamson, Harald H.H. Göring, Andrew R. Webster, David G. Birch, Goncalo R. Abecasis, Yang Fann, Shomi S. Bhattacharya, Stephen P. Daiger, John R. Heckenlively, Sten Andréasson, Anand Swaroop

Am J Hum Genet. 2009 Jun 12; 84(6): 792–800. doi: 10.1016/j.ajhg.2009.05.007

PMCID:: PMC2694974

Article PDF–1.0M

Select item 43838614.

Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle

Janelle M. Spinazzola, Tara C. Smith, Min Liu, Elizabeth J. Luna, Elisabeth R. Barton

Hum Mol Genet. 2015 May 1; 24(9): 2470–2481. Published online 2015 Jan 20. doi: 10.1093/hmg/ddv008

PMCID:: PMC4383861

Article PDF–785K

Select item 35026945.

Transcriptomic Analysis of Postmortem Brain identifies Dysregulated Splicing Events in Novel Candidate Genes for Schizophrenia

Ori S. Cohen, Sarah Y. Mccoy, Frank A. Middleton, Sean Bialosuknia, Yanli Zhang-James, Lu Liu, Ming T. Tsuang, Stephen V. Faraone, Stephen J. Glatt

Schizophr Res. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Schizophr Res. 2012 Dec; 142(1-3): 188–199. Published online 2012 Oct 9. doi: 10.1016/j.schres.2012.09.015

PMCID:: PMC3502694

Article PDF–678K

Select item 27172116.

Promoter DNA Methylation of Oncostatin M receptor-β as a Novel Diagnostic and Therapeutic Marker in Colon Cancer

Myoung Sook Kim, Joost Louwagie, Beatriz Carvalho, Jochim S. Terhaar sive Droste, Hannah Lui Park, Young Kwang Chae, Keishi Yamashita, Junwei Liu, Kimberly Laskie Ostrow, Shizhang Ling, Rafael Guerrero-Preston, Semra Demokan, Zubeyde Yalniz, Nejat Dalay, Gerrit A. Meijer, Wim Van Criekinge, David Sidransky

PLoS One. 2009; 4(8): e6555. Published online 2009 Aug 7. doi: 10.1371/journal.pone.0006555

PMCID:: PMC2717211

Article PDF–895K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 6

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity