Full text in PMC (nucleotide) for Gene (Select 79728) - PMC

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

Abstract Article PDF–443K

Select item 69782574.

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

Abstract Article PDF–826K

Select item 69330105.

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

Abstract Article PDF–815K

Select item 69048736.

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

Abstract Article PDF–1003K

Select item 69002767.

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

Abstract Article PDF–11M

Select item 68562968.

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

Abstract Article PDF–1.7M

Select item 68185769.

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

Abstract Article PDF–474K

Select item 675231410.

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

Abstract Article PDF–436K

Select item 672138511.

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

Abstract Article PDF–786K

Select item 670268712.

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

Abstract Article PDF–1.3M

Select item 669513813.

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

Abstract Article PDF–1.6M

Select item 653308614.

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

Abstract Article PDF–4.9M

Select item 653140815.

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

Abstract Article PDF–2.8M

Select item 650662516.

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

Abstract Article PDF–1.7M

Select item 650301317.

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

Abstract Article PDF–1.2M

Select item 648702518.

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

Abstract Article PDF–2.2M

Select item 647075919.

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

Abstract Article PDF–3.4M

Select item 642085620.

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

Abstract Article PDF–2.6M

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