PMC Links for Nucleotide (Select 1519245732) - 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

Abstract 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

Abstract 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

Abstract Article PDF–1.0M

Select item 54602144.

Opposing activities of oncogenic MIR17HG and tumor suppressive MIR100HG clusters and their gene targets regulate replicative senescence in human adult stem cells

Mary F. Lopez, Ping Niu, Lu Wang, Maryann Vogelsang, Meenakshi Gaur, Bryan Krastins, Yueqiang Zhao, Aibek Smagul, Aliya Nussupbekova, Aikan A. Akanov, I. King Jordan, Victoria V. Lunyak

NPJ Aging Mech Dis. 2017; 3: 7. Published online 2017 Apr 20. doi: 10.1038/s41514-017-0006-y

PMCID:: PMC5460214

Abstract Article PDF–2.9M

Select item 44968575.

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

Chang-Ki Yoon, Nayoung K. D. Kim, Je-Gun Joung, Joo Young Shin, Jung Hyun Park, Hye-Hyun Eum, Hae-ock Lee, Woong-Yang Park, Hyeong Gon Yu

BMC Genomics. 2015; 16(1): 515. Published online 2015 Jul 9. doi: 10.1186/s12864-015-1723-x

PMCID:: PMC4496857

Abstract Article PDF–571K

Select item 30532936.

Identification of Disease-Causing Mutations in Autosomal Dominant Retinitis Pigmentosa (adRP) Using Next-Generation DNA Sequencing

Sara J. Bowne, Lori S. Sullivan, Daniel C. Koboldt, Li Ding, Robert Fulton, Rachel M. Abbott, Erica J. Sodergren, David G. Birch, Dianna H. Wheaton, John R. Heckenlively, Qin Liu, Eric A. Pierce, George M. Weinstock, Stephen P. Daiger

Invest Ophthalmol Vis Sci. 2011 Jan; 52(1): 494–503. Published online 2011 Jan 25. doi: 10.1167/iovs.10-6180

PMCID:: PMC3053293

Abstract Article PDF–896K

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