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Select item 70571081.

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

Abstract Article PDF–894K

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 69957333.

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations

Qiang Lu, Liang Shang, Wo Tu Tian, Li Cao, Xue Zhang, Qing Liu

Ann Transl Med. 2020 Jan; 8(1): 8. doi: 10.21037/atm.2019.11.31

PMCID:: PMC6995733

Abstract Article PDF–1.1M

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 69127215.

Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies

Coralea Stephanou, Stella Tamana, Anna Minaidou, Panayiota Papasavva, Marina Kleanthous, Petros Kountouris

J Clin Med. 2019 Nov; 8(11): 1927. Published online 2019 Nov 9. doi: 10.3390/jcm8111927

PMCID:: PMC6912721

Abstract Article PDF–4.2M

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 676550810.

一种新的3.8 kb缺失α地贫基因的鉴定

黄革, 郑有为, 王景健, 吴际, 刘胜男

Nan Fang Yi Ke Da Xue Xue Bao. 2017 Jul 20; 37(7): 997–1000. Chinese. doi: 10.3969/j.issn.1673-4254.2017.07.26

PMCID:: PMC6765508

Abstract Article PDF–846K

Select item 674264611.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 672138512.

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 670268713.

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 656556514.

Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia

Zhuo Yang, Quexuan Cui, Wenzhe Zhou, Ling Qiu, Bing Han

Mol Genet Genomic Med. 2019 Jun; 7(6): e680. Published online 2019 Apr 9. doi: 10.1002/mgg3.680

Correction in:: Mol Genet Genomic Med. 2019 Nov; 7(11): e1018.

PMCID:: PMC6565565

Abstract Article PDF–620K

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 653010016.

Gene spectrum analysis of thalassemia for people residing in northern China

Zhuo Yang, Wenzhe Zhou, Quexuan Cui, Ling Qiu, Bing Han

BMC Med Genet. 2019; 20: 86. Published online 2019 May 22. doi: 10.1186/s12881-019-0818-7

PMCID:: PMC6530100

Abstract Article PDF–719K

Select item 650662517.

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 650301318.

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 650131819.

Molecular analysis of a large novel deletion causing α⁺-thalassemia

Jianlong Zhuang, Jie Tian, Jitao Wei, Yu Zheng, Qianmei Zhuang, Yuanbai Wang, Qingyue Xie, Shuhong Zeng, Geng Wang, Yanchao Pan, Yuying Jiang

BMC Med Genet. 2019; 20: 74. Published online 2019 May 6. doi: 10.1186/s12881-019-0797-8

PMCID:: PMC6501318

Abstract Article PDF–1.4M

Select item 644542320.

Clinical impact of the two ART resistance markers, K13 gene mutations and DPC3 in Vietnam

Maria Carmina Pau, Antonella Pantaleo, Ioannis Tsamesidis, Ha Hoang, Anh Tuan Tran, Thi Lien Hanh Nguyen, Thi Hang Giang Phan, Phuong Anh Ton Nu, Thi Minh Chau Ngo, Giuseppe Marchetti, Evelin Schwarzer, Pier Luigi Fiori, Philip S. Low, Chien Dinh Huynh, Francesco Michelangelo Turrini

PLoS One. 2019; 14(4): e0214667. Published online 2019 Apr 2. doi: 10.1371/journal.pone.0214667

PMCID:: PMC6445423

Abstract Article PDF–850K

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