PMC Links for Nucleotide (Select 1774638997) - PMC

Select item 67523211.

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study

Dominique P. Germain, Kathy Nicholls, Roberto Giugliani, Daniel G. Bichet, Derralynn A. Hughes, Laura M. Barisoni, Robert B. Colvin, J. Charles Jennette, Nina Skuban, Jeffrey P. Castelli, Elfrida Benjamin, Jay A. Barth, Christopher Viereck

Genet Med. 2019; 21(9): 1987–1997. Published online 2019 Feb 6. doi: 10.1038/s41436-019-0451-z

PMCID:: PMC6752321

Abstract Article PDF–770K

Select item 65716332.

Genotype–Phenotype Correlation in a New Fabry-Disease-Causing Mutation

Agnė Čerkauskaitė, Rimantė Čerkauskienė, Marius Miglinas, Arvydas Laurinavičius, Can Ding, Arndt Rolfs, Lina Vencevičienė, Jūratė Barysienė, Edita Kazėnaitė, Eglė Sadauskienė

Medicina (Kaunas) 2019 May; 55(5): 122. Published online 2019 May 7. doi: 10.3390/medicina55050122

PMCID:: PMC6571633

Abstract Article PDF–2.1M

Select item 63073253.

Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease

Chi Zhou, Jin Huang, Guanglin Cui, Hesong Zeng, Dao Wen Wang, Qiang Zhou

BMC Med Genet. 2018; 19: 219. Published online 2018 Dec 27. doi: 10.1186/s12881-018-0734-2

PMCID:: PMC6307325

Abstract Article PDF–4.5M

Select item 22897304.

Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion

J Cell Biol. 1992 Dec 1; 119(5): 1137–1150. doi: 10.1083/jcb.119.5.1137

PMCID:: PMC2289730

Summary PDF–2.7M

Select item 68242235.

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation

Dara McCreary, Ebun Omoyinmi, Ying Hong, Ciara Mulhern, Charalampia Papadopoulou, Marina Casimir, Yael Hacohen, Rodney Nyanhete, Helena Ahlfors, Thomas Cullup, Ming Lim, Kimberly Gilmour, Kshitij Mankad, Evangeline Wassmer, Stefan Berg, Cheryl Hemingway, Paul Brogan, Despina Eleftheriou

JAMA Netw Open. 2019 Oct; 2(10): e1914274. Published online 2019 Oct 30. doi: 10.1001/jamanetworkopen.2019.14274

PMCID:: PMC6824223

Abstract Article

Select item 66873426.

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani

Genet Mol Biol. 2019; 42(1 Suppl 1): 197–206. Published online 2019 Apr 11. doi: 10.1590/1678-4685-GMB-2018-0092

PMCID:: PMC6687342

Abstract Article PDF–1.0M

Select item 60462457.

A panel of three oxidative stress-related genes predicts overall survival in ovarian cancer patients received platinum-based chemotherapy

Jin Zhang, Lixiao Yang, Xiaohong Xiang, Zhuoying Li, Kai Qu, Ke Li

Aging (Albany NY) 2018 Jun; 10(6): 1366–1379. Published online 2018 Jun 17. doi: 10.18632/aging.101473

PMCID:: PMC6046245

Abstract Article PDF–1.8M

Select item 59478528.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study

Sneh Lata, Maddalena Marasa, Yifu Li, David A. Fasel, Emily Groopman, Vaidehi Jobanputra, Hila Rasouly, Adele Mitrotti, Rik Westland, Miguel Verbitsky, Jordan Nestor, Lindsey M. Slater, Vivette D’Agati, Marcin Zaniew, Anna Materna-Kiryluk, Francesca Lugani, Gianluca Caridi, Luca Rampoldi, Aditya Mattoo, Chad A. Newton, Maya K. Rao, Jai Radhakrishan, Wooin Ahn, Pietro A. Canetta, Andrew S. Bomback, Gerald B. Appel, Corinne Antignac, Glen S. Markowitz, Christine K. Garcia, Krzysztof Kiryluk, Simone Sanna-Cherchi, Ali G. Gharavi

Ann Intern Med. Author manuscript; available in PMC 2018 Jul 16.

Published in final edited form as: Ann Intern Med. 2018 Jan 16; 168(2): 100–109. Published online 2017 Dec 5. doi: 10.7326/M17-1319

Correction in:: Ann Intern Med. 2018 Feb 20; 168(4): 308.

PMCID:: PMC5947852

Abstract Article PDF–364K

Select item 54663859.

Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing

Yue Zhao, Yue Feng, Xiaoxue Ding, Shuwei Dong, Hong Zhang, Jiahuan Ding, Xueshan Xia

Int J Mol Med. 2017 Jul; 40(1): 121–129. Published online 2017 May 11. doi: 10.3892/ijmm.2017.2986

PMCID:: PMC5466385

Abstract Article PDF–1.2M

Select item 529787010.

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy

C. P. Thomas, M. A. Mansilla, R. Sompallae, S. O. Mason, C. J. Nishimura, M. J. Kimble, C. A. Campbell, A. E. Kwitek, B. W. Darbro, Z. A. Stewart, R. J. H. Smith

Am J Transplant. 2017 Feb; 17(2): 401–410. Published online 2016 Aug 24. doi: 10.1111/ajt.13970

PMCID:: PMC5297870

Abstract Article PDF–172K

Select item 507889911.

Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report

Yosep Chong, Minyoung Kim, Eun Sil Koh, Seok Joon Shin, Ho-Shik Kim, Sungjin Chung

BMC Med Genet. 2016; 17: 76. Published online 2016 Oct 24. doi: 10.1186/s12881-016-0338-7

PMCID:: PMC5078899

Abstract Article PDF–931K

Select item 500063712.

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort

Speranza Rubattu, Cristina Bozzao, Ermelinda Pennacchini, Erika Pagannone, Beatrice Maria Musumeci, Maria Piane, Aldo Germani, Camilla Savio, Pietro Francia, Massimo Volpe, Camillo Autore, Luciana Chessa

Int J Mol Sci. 2016 Aug; 17(8): 1239. Published online 2016 Jul 30. doi: 10.3390/ijms17081239

PMCID:: PMC5000637

Abstract Article PDF–229K

Select item 499927613.

Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease

Xiaoxia Pan, Yan Ouyang, Zhaohui Wang, Hong Ren, Pingyan Shen, Weiming Wang, Yaowen Xu, Liyan Ni, Xialian Yu, Xiaonong Chen, Wen Zhang, Li Yang, Xiao Li, Jing Xu, Nan Chen

PLoS One. 2016; 11(8): e0161330. Published online 2016 Aug 25. doi: 10.1371/journal.pone.0161330

PMCID:: PMC4999276

Abstract Article PDF–734K

Select item 478554914.

Identification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease

Toshiko Umeda, Seiji Hashimoto, Kazuyuki Noriyasu, Ayumi Takamura, Miwa Fujisaki, Yoshikatsu Eto

Hum Genome Var. 2015; 2: 15044. Published online 2015 Nov 12. doi: 10.1038/hgv.2015.44

PMCID:: PMC4785549

Abstract Article PDF–749K

Select item 419391015.

Expression of GBGT1 is epigenetically regulated by DNA methylation in ovarian cancer cells

Francis Jacob, Megan P Hitchins, André Fedier, Kevin Brennan, Sheri Nixdorf, Neville F Hacker, Robyn Ward, Viola A Heinzelmann-Schwarz

BMC Mol Biol. 2014; 15: 24. Published online 2014 Oct 7. doi: 10.1186/1471-2199-15-24

PMCID:: PMC4193910

Abstract Article PDF–1.7M

Select item 343860016.

XIAONAN KANG, NIAN WANG, CHEN PEI, LU SUN, RUIXIA SUN, JIE CHEN, YINKUN LIU

Exp Ther Med. 2012 Mar; 3(3): 415–422. Published online 2011 Dec 23. doi: 10.3892/etm.2011.430

PMCID:: PMC3438600

Abstract Article PDF–785K

Select item 343653217.

α-Galactosidase Aggregation Is a Determinant of Pharmacological Chaperone Efficacy on Fabry Disease Mutants

Aleksandra Siekierska, Greet De Baets, Joke Reumers, Rodrigo Gallardo, Stanislav Rudyak, Kerensa Broersen, Jose Couceiro, Joost Van Durme, Joost Schymkowitz, Frederic Rousseau

J Biol Chem. 2012 Aug 17; 287(34): 28386–28397. Published online 2012 Jul 6. doi: 10.1074/jbc.M112.351056

PMCID:: PMC3436532

Abstract Article PDF–2.1M

Select item 182848218.

Gene Expression Pattern in Human Brain Endothelial Cells in Response to Neisseria meningitidis

Alexandra Schubert-Unkmeir, Olga Sokolova, Ursula Panzner, Martin Eigenthaler, Matthias Frosch

Infect Immun. 2007 Feb; 75(2): 899–914. Published online 2006 Nov 27. doi: 10.1128/IAI.01508-06

PMCID:: PMC1828482

Abstract Article PDF–307K

Select item 127431019.

Mammalian BEX, WEX and GASP genes: Coding and non-coding chimaerism sustained by gene conversion events

Eitan E Winter, Chris P Ponting

BMC Evol Biol. 2005; 5: 54. Published online 2005 Oct 12. doi: 10.1186/1471-2148-5-54

PMCID:: PMC1274310

Abstract Article PDF–1.2M

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