Full text in PMC (nucleotide) for Gene (Select 5336) - PMC

Laure Dumont, Mark B. Richardson, Phillip van der Peet, Danushka S. Marapana, Tony Triglia, Matthew W. A. Dixon, Alan F. Cowman, Spencer J. Williams, Leann Tilley, Malcolm J. McConville, Simon A. Cobbold

mBio. 2019 Nov-Dec; 10(6): e02060-19. Published online 2019 Dec 10. doi: 10.1128/mBio.02060-19

PMCID:: PMC6904873

Article PDF–1003K

Select item 69002765.

CRISPR/Cas9 gene correction of HbH-CS thalassemia-induced pluripotent stem cells

Xie Yingjun, Xie Yuhuan, Chen Yuchang, Li Dongzhi, Wang Ding, Song Bing, Yang Yi, Lu Dian, Xue Yanting, Xiong Zeyu, Liu Nengqing, Chen Diyu, Sun Xiaofang

Ann Hematol. 2019; 98(12): 2661–2671. Published online 2019 Sep 9. doi: 10.1007/s00277-019-03763-2

PMCID:: PMC6900276

Article PDF–11M

Select item 68562966.

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso, Montserrat Rodríguez-Pedreira, Rogelio Simón, Ana Camacho, Pilar Quijada, Salvador Ibanez-Mico, Mª Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Mª Llanos Carrasco, Feliciano Ramos, Mª Luz Couce, Mª Luz Ruiz-Falcó, Luis Gutierrez-Solana, Margarita Martínez-Atienza

Front Neurosci. 2019; 13: 1135. Published online 2019 Nov 8. doi: 10.3389/fnins.2019.01135

PMCID:: PMC6856296

Article PDF–1.7M

Select item 68242237.

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

Article

Select item 68185768.

Hb I: A α‐globin chain variant causing unexpected HbA_1c results

Anping Xu, Jian Sun, Jie Li, Weidong Chen, Ruoyang Zheng, Zhonghou Han, Ling Ji

J Clin Lab Anal. 2019 Feb; 33(2): e22671. Published online 2018 Sep 17. doi: 10.1002/jcla.22671

PMCID:: PMC6818576

Article PDF–474K

Select item 67792899.

Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration

Andrea R. Waksmunski, Michelle Grunin, Tyler G. Kinzy, Robert P. Igo, Jr, Jonathan L. Haines, Jessica N. Cooke Bailey, for the International Age-Related Macular Degeneration Genomics Consortium

Invest Ophthalmol Vis Sci. 2019 Sep; 60(12): 4041–4051. doi: 10.1167/iovs.19-27827

PMCID:: PMC6779289

Article PDF–1.0M

Select item 672138510.

Anoctamin 3: A Possible Link between Cluster Headache and Ca²⁺ Signaling

Caroline Ran, Carmen Fourier, Donia Arafa, Franziska Liesecke, Christina Sjöstrand, Elisabet Waldenlind, Anna Steinberg, Andrea Carmine Belin

Brain Sci. 2019 Aug; 9(8): 184. Published online 2019 Jul 30. doi: 10.3390/brainsci9080184

PMCID:: PMC6721385

Article PDF–786K

Select item 670268711.

Different gene expression profiles in subcutaneous & visceral adipose tissues from Mexican patients with obesity

María D. Ronquillo, Alla Mellnyk, Noemí Cárdenas-Rodríguez, Emmanuel Martínez, David A. Comoto, Liliana Carmona-Aparicio, Norma E. Herrera, Eleazar Lara, Armando Pereyra, Esaú Floriano-Sánchez

Indian J Med Res. 2019 May; 149(5): 616–626. doi: 10.4103/ijmr.IJMR_1165_17

PMCID:: PMC6702687

Article PDF–1.3M

Select item 653140812.

Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome

F. Zhong, H. Ying, W. Jia, X. Zhou, H. Zhang, Q. Guan, J. Xu, L. Fang, J. Zhao, C. Xu

J Endocrinol Invest. 2019; 42(6): 653–665. Published online 2018 Nov 10. doi: 10.1007/s40618-018-0966-1

PMCID:: PMC6531408

Article PDF–2.8M

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MicroRNA-146b Overexpression Promotes Human Bladder Cancer Invasion via Enhancing ETS2-Mediated mmp2 mRNA Transcription

Junlan Zhu, Chunxia Xu, Liming Ruan, Jianping Wu, Yang Li, Xingguo Zhang

Mol Ther Nucleic Acids. 2019 Jun 7; 16: 531–542. Published online 2019 Apr 14. doi: 10.1016/j.omtn.2019.04.007

PMCID:: PMC6506625

Article PDF–1.7M

Select item 650301314.

Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China

Chan Zhang, Weiwei Guo, Yujing Cheng, Qi Li, Xin Yang, Run Dai, Linhao Zhu, Wanlu Chen

Mol Genet Genomic Med. 2019 May; 7(5): e574. Published online 2019 Apr 5. doi: 10.1002/mgg3.574

PMCID:: PMC6503013

Article PDF–1.2M

Select item 642085615.

An ARC-regulated IL1β/Cox-2/PGE2/β-catenin/ARC circuit controls leukemia-microenvironment interactions and confers drug resistance in AML

Bing Z. Carter, Po Yee Mak, Xiangmeng Wang, Wenjing Tao, Vivian Ruvolo, Duncan Mak, Hong Mu, Jared K. Burks, Michael Andreeff

Cancer Res. Author manuscript; available in PMC 2020 Mar 15.

Published in final edited form as: Cancer Res. 2019 Mar 15; 79(6): 1165–1177. Published online 2019 Jan 23. doi: 10.1158/0008-5472.CAN-18-0921

PMCID:: PMC6420856

Article PDF–2.6M

Select item 641836316.

Interaction of germline variants in a family with a history of early‐onset clear cell renal cell carcinoma

Emmanuelle Nicolas, Elena V. Demidova, Waleed Iqbal, Ilya G. Serebriiskii, Ramilia Vlasenkova, Pooja Ghatalia, Yan Zhou, Kim Rainey, Andrea F. Forman, Roland L. Dunbrack, Jr, Erica A. Golemis, Michael J. Hall, Mary B. Daly, Sanjeevani Arora

Mol Genet Genomic Med. 2019 Mar; 7(3): e556. Published online 2019 Jan 24. doi: 10.1002/mgg3.556

PMCID:: PMC6418363

Article PDF–1.8M

Select item 641371717.

Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies

Djuro Karanovic, Ian C. Michelow, Anthony R. Hayward, Suk See DeRavin, Ottavia M. Delmonte, Michael E. Grigg, Adam Kerry Dobbs, Julie E. Niemela, Jennifer Stoddard, Zaid Alhinai, Natasha Rybak, Nancy Hernandez, Stefania Pittaluga, Sergio D. Rosenzweig, Gulbu Uzel, Luigi D. Notarangelo

Front Immunol. 2019; 10: 77. Published online 2019 Feb 14. doi: 10.3389/fimmu.2019.00077

PMCID:: PMC6413717

Article PDF–3.3M

Select item 635576418.

Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease

Maria Carolina Dalmasso, Luis Ignacio Brusco, Natividad Olivar, Carolina Muchnik, Claudia Hanses, Esther Milz, Julian Becker, Stefanie Heilmann-Heimbach, Per Hoffmann, Federico A. Prestia, Pablo Galeano, Mariana Soledad Sanchez Avalos, Luis Eduardo Martinez, Mariana Estela Carulla, Pablo Javier Azurmendi, Cynthia Liberczuk, Cristina Fezza, Marcelo Sampaño, Maria Fierens, Guillermo Jemar, Patricia Solis, Nancy Medel, Julieta Lisso, Zulma Sevillano, Paolo Bosco, Paola Bossù, Gianfranco Spalletta, Daniela Galimberti, Michelangelo Mancuso, Benedetta Nacmias, Sandro Sorbi, Patrizia Mecocci, Alberto Pilotto, Paolo Caffarra, Francesco Panza, Maria Bullido, Jordi Clarimon, Pascual Sánchez-Juan, Eliecer Coto, Florentino Sanchez-Garcia, Caroline Graff, Martin Ingelsson, Céline Bellenguez, Eduardo Miguel Castaño, Claudia Kairiyama, Daniel Gustavo Politis, Silvia Kochen, Horacio Scaro, Wolfgang Maier, Frank Jessen, Carlos Alberto Mangone, Jean-Charles Lambert, Laura Morelli, Alfredo Ramirez

Transl Psychiatry. 2019; 9: 55. Published online 2019 Jan 31. doi: 10.1038/s41398-019-0394-9

PMCID:: PMC6355764

Article PDF–821K

Select item 632764119.

Identification of differentially expressed non-coding RNAs and mRNAs involved in Qi stagnation and blood stasis syndrome

Guang Chen, Jialiang Gao, Haoqiang He, Chao Liu, Yongmei Liu, Jun Li, Jie Wang

Exp Ther Med. 2019 Feb; 17(2): 1206–1223. Published online 2018 Dec 7. doi: 10.3892/etm.2018.7068

PMCID:: PMC6327641

Article PDF–3.7M

Select item 629168720.

Gene expression profiling: identification of gene expression in human MSC chondrogenic differentiation

Ming Gong, Tangzhao Liang, Hao Zhang, Shaochu Chen, Yawei Hu, Jianhua Zhou, Xuan Zhang, Wang Zhang, Xiaojing Geng, Xuenong Zou

Am J Transl Res. 2018; 10(11): 3555–3566. Published online 2018 Nov 15.

PMCID:: PMC6291687

Article PDF–1.5M

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