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Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization

Monica Penon‐Portmann, Stephanie Lotz‐Esquivel, Alejandra Chavez Carrera, Mildred Jiménez‐Hernández, Danny Alvarado‐Romero, Sharon Segura‐Cordero, Fiorella Rimolo‐Donadio, Francisco Hevia‐Urrutia, Alfredo Mora‐Guevara, Manuel Saborío‐Rocafort, Gabriela Jiménez‐Arguedas, Ramsés Badilla‐Porras

JIMD Rep. 2020 Mar; 52(1): 55–62. Published online 2020 Feb 6. doi: 10.1002/jmd2.12098

PMCID:: PMC7052697

Abstract Article PDF–1.0M

Select item 70271952.

Systematic Nucleotide Exchange Analysis of ESTs From the Human Cancer Genome Project Report: Origins of 347 Unknown ESTs Indicate Putative Transcription of Non-Coding Genomic Regions

Ganesh Warthi, Pierre-Edouard Fournier, Hervé Seligmann

Front Genet. 2020; 11: 42. Published online 2020 Feb 11. doi: 10.3389/fgene.2020.00042

PMCID:: PMC7027195

Abstract Article PDF–1.2M

Select item 69286273.

Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining

Justyna Totoń-Żurańska, Przemysław Kapusta, Magda Rybak-Krzyszkowska, Katarzyna Lorenc, Julita Machlowska, Anna Skalniak, Erita Filipek, Dorota Pawlik, Paweł P. Wołkow

Int J Mol Sci. 2019 Dec; 20(23): 6006. Published online 2019 Nov 28. doi: 10.3390/ijms20236006

PMCID:: PMC6928627

Abstract Article PDF–1.9M

Select item 68627334.

Genetic variants of VEGFR-1 gene promoter in acute myocardial infarction

Haihua Wang, Shufang Zhang, Na Wang, Jie Zhang, Mingkai Chen, Xiaohui He, Yinghua Cui, Shuchao Pang, Bo Yan

Hum Genomics. 2019; 13: 56. Published online 2019 Nov 19. doi: 10.1186/s40246-019-0243-1

PMCID:: PMC6862733

Abstract Article PDF–1.8M

Select item 68264185.

A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair

Maria Valeria Esposito, Giuseppina Minopoli, Luciana Esposito, Valeria D’Argenio, Federica Di Maggio, Emanuele Sasso, Massimiliano D’Aiuto, Nicola Zambrano, Francesco Salvatore

Cancers (Basel) 2019 Oct; 11(10): 1454. Published online 2019 Sep 28. doi: 10.3390/cancers11101454

PMCID:: PMC6826418

Abstract Article PDF–7.8M

Select item 68257786.

The Nudix Hydrolase 15 (NUDT15) Gene Variants among Jordanian Arab Population

Yazun Bashir Jarrar, Maria Ghishan

Asian Pac J Cancer Prev. 2019; 20(3): 801–808. doi: 10.31557/APJCP.2019.20.3.801

PMCID:: PMC6825778

Abstract Article PDF–467K

Select item 68194367.

Bioinformatic Identification of miR-622 Key Target Genes and Experimental Validation of the miR-622-RNF8 Axis in Breast Cancer

Chuanyang Liu, Lu Min, Jingyu Kuang, Chushu Zhu, Xin-Yuan Qiu, Lingyun Zhu

Front Oncol. 2019; 9: 1114. Published online 2019 Oct 23. doi: 10.3389/fonc.2019.01114

PMCID:: PMC6819436

Abstract Article PDF–2.6M

Select item 65572048.

Deep sequencing of a recurrent oligodendroglioma and the derived xenografts reveals new insights into the evolution of human oligodendroglioma and candidate driver genes

Nadin D. Exner, Jaime Alberto Campos Valenzuela, Khalil Abou-El-Ardat, Hrvoje Miletic, Peter C. Huszthy, Petra M. Radehaus, Evelin Schröck, Rolf Bjerkvig, Lars Kaderali, Barbara Klink, Janice M. Nigro

Oncotarget. 2019 Jun 4; 10(38): 3641–3653. Published online 2019 Jun 4. doi: 10.18632/oncotarget.26950

PMCID:: PMC6557204

Abstract Article PDF–2.3M

Select item 65030299.

Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease

Zhiling Qian, Xiongwei Cui, Yunli Huang, Yanmin Liu, Ning Li, Sujun Zheng, Jun Jiang, Shichang Cui

Mol Genet Genomic Med. 2019 May; 7(5): e649. Published online 2019 Mar 18. doi: 10.1002/mgg3.649

PMCID:: PMC6503029

Abstract Article PDF–493K

Select item 650232210.

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease

Nivedita Singh, Pradeep Kallollimath, Mohd Hussain Shah, Saketh Kapoor, Vishwanath Kumble Bhat, Lakshminarayanapuram Gopal Viswanathan, Madhu Nagappa, Parayil S. Bindu, Arun B. Taly, Sanjib Sinha, Arun Kumar

PLoS One. 2019; 14(5): e0215779. Published online 2019 May 6. doi: 10.1371/journal.pone.0215779

PMCID:: PMC6502322

Abstract Article PDF–3.4M

Select item 641254211.

MicroRNA-92a promotes cell proliferation, migration and survival by directly targeting the tumor suppressor gene NF2 in colorectal and lung cancer cells

Krizelle Mae M. Alcantara, Reynaldo L. Garcia

Oncol Rep. 2019 Apr; 41(4): 2103–2116. Published online 2019 Feb 19. doi: 10.3892/or.2019.7020

PMCID:: PMC6412542

Abstract Article PDF–2.4M

Select item 632764112.

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

Abstract Article PDF–3.7M

Select item 623064413.

Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss

Satoko Abe, Shin‐ya Nishio, Yoh Yokota, Hideaki Moteki, Kozo Kumakawa, Shin‐ichi Usami

Clin Case Rep. 2018 Nov; 6(11): 2111–2116. Published online 2018 Sep 21. doi: 10.1002/ccr3.1800

PMCID:: PMC6230644

Abstract Article PDF–443K

Select item 617646214.

Differential expression profiles of microRNAs in highly and weakly invasive/metastatic pancreatic cancer cells

Xiaodong Tan, Lei Zhou, Huaitao Wang, Yifan Yang, Yang Sun, Zhaoping Wang, Xiaobo Zhang, Feng Gao, Hansi Li

Oncol Lett. 2018 Nov; 16(5): 6026–6038. Published online 2018 Aug 23. doi: 10.3892/ol.2018.9352

PMCID:: PMC6176462

Abstract Article PDF–1.5M

Select item 617617715.

Altered expression pattern of circular RNAs in metastatic oral mucosal melanoma

Houyu Ju, Liming Zhang, Lu Mao, Shuli Liu, Weiya Xia, Jingzhou Hu, Min Ruan, Guoxin Ren

Am J Cancer Res. 2018; 8(9): 1788–1800. Published online 2018 Sep 1.

PMCID:: PMC6176177

Abstract Article PDF–2.0M

Select item 617445816.

Genetic Identification in Early Onset Parkinsonism among Norwegian Patients

Emil K. Gustavsson, Joanne Trinh, Marna McKenzie, Stephanie Bortnick, Maria Skaalum Petersen, Matthew J. Farrer, Jan O. Aasly

Mov Disord Clin Pract. 2017 Jul-Aug; 4(4): 499–508. Published online 2017 May 23. doi: 10.1002/mdc3.12501

PMCID:: PMC6174458

Abstract Article PDF–357K

Select item 615882217.

CDX2 in colorectal cancer is an independent prognostic factor and regulated by promoter methylation and histone deacetylation in tumors of the serrated pathway

Janina Graule, Kristin Uth, Elia Fischer, Irene Centeno, José A. Galván, Micha Eichmann, Tilman T. Rau, Rupert Langer, Heather Dawson, Ulrich Nitsche, Peter Traeger, Martin D. Berger, Beat Schnüriger, Marion Hädrich, Peter Studer, Daniel Inderbitzin, Alessandro Lugli, Mario P. Tschan, Inti Zlobec

Clin Epigenetics. 2018; 10: 120. Published online 2018 Sep 26. doi: 10.1186/s13148-018-0548-2