PMC Links for Nucleotide (Select 1519243307) - PMC

Leigh Anne Swayne, Nathaniel P. Murphy, Sirisha Asuri, Lena Chen, Xiaoxue Xu, Sarah McIntosh, Chao Wang, Peter J. Lancione, Jason D. Roberts, Charles Kerr, Shubhayan Sanatani, Elizabeth Sherwin, Crystal F. Kline, Mingjie Zhang, Peter J. Mohler, Laura T. Arbour

Circ Cardiovasc Genet. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: Circ Cardiovasc Genet. 2017 Jan; 10(1): e001537. doi: 10.1161/CIRCGENETICS.116.001537

PMCID:: PMC5312931

Article PDF–1.5M

Select item 22909085.

440-kD ankyrinB: structure of the major developmentally regulated domain and selective localization in unmyelinated axons

J Cell Biol. 1993 Dec 2; 123(6): 1463–1473. doi: 10.1083/jcb.123.6.1463

PMCID:: PMC2290908

Summary PDF–2.7M

Select item 22890746.

Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genes

J Cell Biol. 1991 Jul 2; 114(2): 241–253. doi: 10.1083/jcb.114.2.241

PMCID:: PMC2289074

Summary PDF–1.9M

Select item 21330707.

Nervous System Defects of Ankyrin_B (−/−) Mice Suggest Functional Overlap between the Cell Adhesion Molecule L1 and 440-kD Ankyrin_Bin Premyelinated Axons

Paula Scotland, Daixing Zhou, Helene Benveniste, Vann Bennett

J Cell Biol. 1998 Nov 30; 143(5): 1305–1315. doi: 10.1083/jcb.143.5.1305

PMCID:: PMC2133070

Article PDF–1.6M

Select item 18013608.

Mapping of a Gene for Long QT Syndrome to Chromosome 4q25-27

Jean-Jacques Schott, Flavien Charpentier, Sophie Peltier, Patrick Foley, Emmanuel Drouin, Jean-Brieuc Bouhour, Patricia Donnelly, Gilles Vergnaud, Lucien Bachner, Jean-Paul Moisan, Hervé Le Marec, Olivier Pascal

Am J Hum Genet. 1995 Nov; 57(5): 1114–1122.

PMCID:: PMC1801360

Summary Page Browse PDF–1.2M

Select item 70107679.

Genetic Basis and Genotype–Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy

Xin-Lin Zhang, Jun Xie, Rong-Fang Lan, Li-Na Kang, Lian Wang, Wei Xu, Biao Xu

Sci Rep. 2020; 10: 2226. Published online 2020 Feb 10. doi: 10.1038/s41598-020-58984-7

PMCID:: PMC7010767

Article PDF–1.5M

Select item 692376810.

The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci

Elisabeth Luisa Germer, Sophie Imhoff, Carles Vilariño-Güell, Meike Kasten, Philip Seibler, Norbert Brüggemann, International Parkinson’s Disease Genomics Consortium, Christine Klein, Joanne Trinh

Front Neurol. 2019; 10: 1284. Published online 2019 Dec 13. doi: 10.3389/fneur.2019.01284

PMCID:: PMC6923768

Article PDF–390K

Select item 578385311.

Whole‐exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death

Hao Huang, Ya‐Qin Chen, Liang‐Liang Fan, Shuai Guo, Jing‐Jing Li, Jie‐Yuan Jin, Rong Xiang

J Cell Mol Med. 2018 Feb; 22(2): 1350–1354. Published online 2017 Oct 27. doi: 10.1111/jcmm.13409

PMCID:: PMC5783853

Article PDF–423K

Select item 493901412.

Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

Aisha Al-Shamsi, Jozef L. Hertecant, Abdul-Kader Souid, Fatma A. Al-Jasmi

Orphanet J Rare Dis. 2016; 11: 94. Published online 2016 Jul 8. doi: 10.1186/s13023-016-0474-3

PMCID:: PMC4939014

Article PDF–477K

Select item 479134013.

Mining of single nucleotide polymorphisms in the 3' untranslated region of liver cancer-implicated miR-122 target genes

Padmanaban S. Suresh, Thejaswini Venkatesh, Rie Tsutsumi

Ann Transl Med. 2016 Mar; 4(5): 102. doi: 10.21037/atm.2016.02.13

PMCID:: PMC4791340

Article PDF–98K

Select item 452177914.

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

Catarina Allegue, Mònica Coll, Jesus Mates, Oscar Campuzano, Anna Iglesias, Beatriz Sobrino, Maria Brion, Jorge Amigo, Angel Carracedo, Pedro Brugada, Josep Brugada, Ramon Brugada

PLoS One. 2015; 10(7): e0133037. Published online 2015 Jul 31. doi: 10.1371/journal.pone.0133037

PMCID:: PMC4521779

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Select item 366153415.

Transcriptome Analysis Reveals New Insights into the Modulation of Endometrial Stromal Cell Receptive Phenotype by Embryo-Derived Signals Interleukin-1 and Human Chorionic Gonadotropin: Possible Involvement in Early Embryo Implantation

Amélie Bourdiec, Ezequiel Calvo, C. V. Rao, Ali Akoum

PLoS One. 2013; 8(5): e64829. Published online 2013 May 22. doi: 10.1371/journal.pone.0064829

PMCID:: PMC3661534

Article PDF–864K

Select item 333531416.

Expression profiling of uterine leiomyomata cytogenetic subgroups reveals distinct signatures in matched myometrium: transcriptional profiling of the t(12;14) and evidence in support of predisposing genetic heterogeneity

Jennelle C. Hodge, Tae-Min Kim, Jonathan M. Dreyfuss, Priya Somasundaram, Nicole C. Christacos, Marissa Rousselle, Bradley J. Quade, Peter J. Park, Elizabeth A. Stewart, Cynthia C. Morton

Hum Mol Genet. 2012 May 15; 21(10): 2312–2329. Published online 2012 Feb 17. doi: 10.1093/hmg/dds051