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Huan-Lan Bai, Zhi-Feng Lu, Jing-Jing Zhao, Xin Ma, Xue-Heng Li, Hui Xu, Shao-Guo Wu, Chun-Min Kang, Jing-Bo Lu, Yuan-Jun Xu, Lei Xiao, Qian Wu, Shu Ye, Qian Wang, Lei Zheng, Yan-Wei Hu

Physiol Genomics. 2019 Dec 1; 51(12): 644–656. Published online 2019 Nov 4. doi: 10.1152/physiolgenomics.00077.2019

PMCID:: PMC6962594

Article

Select item 69048735.

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

Article PDF–1003K

Select item 69002766.

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 68562967.

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 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 67605849.

Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family

Qin Wang, Jianming Zhang, Hui Wang, Qing Feng, Fuwei Luo, Jiansheng Xie

J Hum Genet. 2019; 64(11): 1067–1073. Published online 2019 Aug 19. doi: 10.1038/s10038-019-0651-z

PMCID:: PMC6760584

Article PDF–686K

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 662739612.

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders

Carmela Fusco, Silvia Morlino, Lucia Micale, Alessandro Ferraris, Paola Grammatico, Marco Castori

Genes (Basel) 2019 Jun; 10(6): 442. Published online 2019 Jun 10. doi: 10.3390/genes10060442

PMCID:: PMC6627396

Article PDF–1.7M

Select item 653140813.

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

Select item 650662514.

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 650301315.

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 642085616.

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 641836317.

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 632764118.

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 628657819.

Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report

Anna Keravnou, Evy Bashiardes, Kyriaki Michailidou, Marinos Soteriou, Areti Moushi, Marios Cariolou

BMC Med Genet. 2018; 19: 208. Published online 2018 Dec 7. doi: 10.1186/s12881-018-0728-0

PMCID:: PMC6286578

Article PDF–999K

Select item 628270820.

hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update

Meng Wang, Keith M. Callenberg, Raymond Dalgleish, Alexandre Fedtsov, Naomi K. Fox, Peter J. Freeman, Kevin B. Jacobs, Piotr Kaleta, Andrew J. McMurry, Andreas Prlić, Veena Rajaraman, Reece K. Hart

Hum Mutat. 2018 Dec; 39(12): 1803–1813. Published online 2018 Sep 5. doi: 10.1002/humu.23615

PMCID:: PMC6282708

Article PDF–795K

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