PMC Links for Nucleotide (Select 1519243872) - PMC

Select item 63511301.

CERKL regulates autophagy via the NAD-dependent deacetylase SIRT1

Xuebin Hu, Zhaojing Lu, Shanshan Yu, James Reilly, Fei Liu, Danna Jia, Yayun Qin, Shanshan Han, Xiliang Liu, Zhen Qu, Yuexia Lv, Jingzhen Li, Yuwen Huang, Tao Jiang, Haibo Jia, Qing Wang, Jingyu Liu, Xinhua Shu, Zhaohui Tang, Mugen Liu

Autophagy. 2019; 15(3): 453–465. Published online 2018 Sep 25. doi: 10.1080/15548627.2018.1520548

PMCID:: PMC6351130

Abstract Article PDF–2.7M

Select item 11819002.

Mutation of CERKL, a Novel Human Ceramide Kinase Gene, Causes Autosomal Recessive Retinitis Pigmentosa (RP26)

Miquel Tuson, Gemma Marfany, Roser Gonzàlez-Duarte

Am J Hum Genet. 2004 Jan; 74(1): 128–138. Published online 2003 Dec 16. doi: 10.1086/381055

PMCID:: PMC1181900

Abstract Article PDF–459K

Select item 10512193.

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

M Bayés, B Goldaracena, A Martínez-Mir, M I Iragui-Madoz, T Solans, P Chivelet, E Bussaglia, M A Ramos-Arroyo, M Baiget, L Vilageliu, S Balcells, R Gonzàlez-Duarte, D Grinberg

J Med Genet. 1998 Feb; 35(2): 141–145. doi: 10.1136/jmg.35.2.141

PMCID:: PMC1051219

Summary Page Browse PDF–1.1M

Select item 54071814.

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association

Pooja Biswas, Jacque L. Duncan, Bruno Maranhao, Igor Kozak, Kari Branham, Luis Gabriel, Jonathan H. Lin, Giulio Barteselli, Mili Navani, John Suk, Michelle Parke, Catherine Schlechter, Richard G. Weleber, John R. Heckenlively, Gislin Dagnelie, Pauline Lee, S. Amer Riazuddin, Radha Ayyagari

Physiol Genomics. 2017 Apr 1; 49(4): 216–229. Published online 2017 Jan 27. doi: 10.1152/physiolgenomics.00096.2016

PMCID:: PMC5407181

Abstract Article

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 43478826.

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

Li Zhao, Feng Wang, Hui Wang, Yumei Li, Sharon Alexander, Keqing Wang, Colin E. Willoughby, Jacques E. Zaneveld, Lichun Jiang, Zachry T. Soens, Philip Earle, David Simpson, Giuliana Silvestri, Rui Chen

Hum Genet. Author manuscript; available in PMC 2015 Aug 1.

Published in final edited form as: Hum Genet. 2015 Feb; 134(2): 217–230. Published online 2014 Dec 4. doi: 10.1007/s00439-014-1512-7

PMCID:: PMC4347882

Abstract Article PDF–1.1M

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