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Items: 1 to 20 of 123

1.
Over expression of METRN predicts poor clinical prognosis in colorectal cancer
Xin Xu, Chihao Zhang, Yan Xia, Jiwei Yu
Mol Genet Genomic Med. 2020 Mar; 8(3): e1102. Published online 2019 Dec 20. doi: 10.1002/mgg3.1102
PMCID:
PMC7057108
AbstractArticlePDF–894K
2.
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
AbstractArticlePDF–1.2M
3.
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing
Sun Hee Rosenthal, Weimin Sun, Ke Zhang, Yan Liu, Quoclinh Nguyen, Anna Gerasimova, Camille Nery, Linda Cheng, Carolyn Castonguay, Elaine Hiller, James Li, Christopher Elzinga, David Wolfson, Alla Smolgovsky, Rebecca Chen, Arlene Buller-Burckle, Joseph Catanese, Andrew Grupe, Felicitas Lacbawan, Renius Owen
Biomed Res Int. 2020; 2020: 3289023. Published online 2020 Jan 22. doi: 10.1155/2020/3289023
PMCID:
PMC6998746
AbstractArticlePDF–443K
4.
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder
Lauren Cascio, Chin‐Fu Chen, Rini Pauly, Sujata Srikanth, Kelly Jones, Cindy D. Skinner, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto
Mol Genet Genomic Med. 2020 Jan; 8(1): e1036. Published online 2019 Nov 7. doi: 10.1002/mgg3.1036
PMCID:
PMC6978257
AbstractArticlePDF–826K
5.
Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach
Javier Oliver, Rosalía Quezada Urban, Claudia Alejandra Franco Cortés, Clara Estela Díaz Velásquez, Ana Lorena Montealegre Paez, Rafael Adrián Pacheco-Orozco, Carlos Castro Rojas, Reggie García-Robles, Juan Javier López Rivera, Sandra Gaitán Chaparro, Ana Milena Gómez, Fernando Suarez Obando, Gustavo Giraldo, Maria Isabel Maya, Paula Hurtado-Villa, Ana Isabel Sanchez, Norma Serrano, Ana Isabel Orduz Galvis, Sandra Aruachan, Johanna Nuñez Castillo, Cecilia Frecha, Cecilia Riggi, Federico Jauk, Eva María Gómez García, Claudia Lorena Carranza, Vanessa Zamora, Gabriela Torres Mejía, Isabelle Romieu, Carlos Arturo Castañeda, Miluska Castillo, Rina Gitler, Adriana Antoniano, Ernesto Rojas Jiménez, Luis Enrique Romero Cruz, Fernando Vallejo Lecuona, Iván Delgado Enciso, Abril Bernardette Martínez Rizo, Alejandro Flores Carranza, Verónica Benites Godinez, Claudia Fabiola Méndez Catalá, Luis Alonso Herrera, Yolanda Irasema Chirino, Luis Ignacio Terrazas, Sandra Perdomo, Felipe Vaca Paniagua
Front Oncol. 2019; 9: 1429. Published online 2019 Dec 20. doi: 10.3389/fonc.2019.01429
PMCID:
PMC6933010
AbstractArticlePDF–815K
6.
The Metabolite Repair Enzyme Phosphoglycolate Phosphatase Regulates Central Carbon Metabolism and Fosmidomycin Sensitivity in Plasmodium falciparum
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
AbstractArticlePDF–1003K
7.
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
AbstractArticlePDF–11M
8.
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
AbstractArticlePDF–1.7M
9.
Hb I: A α‐globin chain variant causing unexpected HbA1c 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
AbstractArticlePDF–474K
10.
DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes
Marcy E. Richardson, Hansook Chong, Wenbo Mu, Blair R. Conner, Vickie Hsuan, Sara Willett, Stephanie Lam, Pei Tsai, Tina Pesaran, Adam C. Chamberlin, Min-Sun Park, Phillip Gray, Rachid Karam, Aaron Elliott
Genet Med. 2019; 21(3): 683–693. Published online 2018 Jul 28. doi: 10.1038/s41436-018-0092-7
Correction in:
Genet Med. 2019; 21(7): 1669.
PMCID:
PMC6752314
AbstractArticlePDF–436K
11.
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
AbstractArticlePDF–786K
12.
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
AbstractArticlePDF–1.3M
13.
A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk
Madison R. Bishop, Anna L. W. Huskey, John Hetzel, Nancy D. Merner
PLoS One. 2019; 14(8): e0220929. Published online 2019 Aug 15. doi: 10.1371/journal.pone.0220929
PMCID:
PMC6695138
AbstractArticlePDF–1.6M
14.
Novel RNA and DNA strand exchange activity of the PALB2 DNA binding domain and its critical role for DNA repair in cells
Jaigeeth Deveryshetty, Thibaut Peterlini, Mikhail Ryzhikov, Nadine Brahiti, Graham Dellaire, Jean-Yves Masson, Sergey Korolev
eLife. 2019; 8: e44063. Published online 2019 Apr 29. doi: 10.7554/eLife.44063
PMCID:
PMC6533086
AbstractArticlePDF–4.9M
15.
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
AbstractArticlePDF–2.8M
16.
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
AbstractArticlePDF–1.7M
17.
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
AbstractArticlePDF–1.2M
18.
Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples
Falk Zakrzewski, Laura Gieldon, Andreas Rump, Michael Seifert, Konrad Grützmann, Alexander Krüger, Sina Loos, Silke Zeugner, Karl Hackmann, Joseph Porrmann, Johannes Wagner, Karin Kast, Pauline Wimberger, Gustavo Baretton, Evelin Schröck, Daniela Aust, Barbara Klink
BMC Cancer. 2019; 19: 396. Published online 2019 Apr 27. doi: 10.1186/s12885-019-5584-6
PMCID:
PMC6487025
AbstractArticlePDF–2.2M
19.
Functional Analysis of Promoter Variants in Genes Involved in Sex Steroid Action, DNA Repair and Cell Cycle Control
Yosr Hamdi, Martin Leclerc, Martine Dumont, Stéphane Dubois, Martine Tranchant, Guy Reimnitz, Penny Soucy, Pauline Cassart, Manon Ouimet, Daniel Sinnett, M’Hamed Lajmi Lakhal Chaieb, Jacques Simard
Genes (Basel) 2019 Mar; 10(3): 186. Published online 2019 Feb 28. doi: 10.3390/genes10030186
PMCID:
PMC6470759
AbstractArticlePDF–3.4M
20.
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
AbstractArticlePDF–2.6M

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