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Select item 70271951.

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 70127432.

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

Gloria Muñoz, David García‐Seisdedos, Crina Ciubotariu, Miguel Piris‐Villaespesa, Marta Gandía, Fernando Martín‐Moro, Luis G. Gutiérrez‐Solana, Marta Morado, Javier López‐Jiménez, Antonio Sánchez‐Herranz, Jesús Villarrubia, Francisco J. del Castillo

JIMD Rep. 2020 Jan; 51(1): 53–61. Published online 2019 Dec 1. doi: 10.1002/jmd2.12078

PMCID:: PMC7012743

Abstract Article PDF–1.2M

Select item 69702763.

Preparation and SPECT/CT Imaging of ¹⁷⁷Lu-Labeled Peptide Nucleic Acid (PNA) Targeting CITED1: Therapeutic Evaluation in Tumor-Bearing Nude Mice

Jia Li, Lei Zhang, Wenbo Li, Chengming Lei, Yiyi Cao, Ying Wang, Zhengjie Wang, Hua Pang

Onco Targets Ther. 2020; 13: 487–496. Published online 2020 Jan 15. doi: 10.2147/OTT.S238098

PMCID:: PMC6970276

Abstract Article PDF–5.4M

Select item 69003674.

Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines

Katherine Johansen Taber, Jeraldine Lim‐Harashima, Harris Naemi, Jim Goldberg

Mol Genet Genomic Med. 2019 Dec; 7(12): e1024. Published online 2019 Nov 6. doi: 10.1002/mgg3.1024

PMCID:: PMC6900367

Abstract Article PDF–545K

Select item 67963005.

An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

Dario Balestra, Iva Maestri, Alessio Branchini, Mattia Ferrarese, Francesco Bernardi, Mirko Pinotti

Front Genet. 2019; 10: 974. Published online 2019 Oct 10. doi: 10.3389/fgene.2019.00974

PMCID:: PMC6796300

Abstract Article PDF–2.6M

Select item 67875386.

Genomics and the future of psychopharmacology: MicroRNAs offer novel therapeutics 

David Gurwitz

Dialogues Clin Neurosci. 2019 Jun; 21(2): 131–148. doi: 10.31887/DCNS.2019.21.2/dgurwitz

PMCID:: PMC6787538

Abstract Article PDF–344K

Select item 67859347.

Circ-SMARCA5 suppresses progression of multiple myeloma by targeting miR-767-5p

Haiyan Liu, Yan Wu, Shunye Wang, Jie Jiang, Chenlu Zhang, Yijing Jiang, Xingfeng Wang, Lewen Hong, Hongming Huang

BMC Cancer. 2019; 19: 937. Published online 2019 Oct 10. doi: 10.1186/s12885-019-6088-0

PMCID:: PMC6785934

Abstract Article PDF–7.6M

Select item 67854568.

Somatic mosaicism of androgen receptor gene in an androgen insensitivity syndrome patient conceived through assisted reproduction technique

Hao Wang, Hui Zhu, Nan Wang, Tong Cheng, Bing Han, Shuangxia Zhao, Huaidong Song, Kaixiang Cheng, Yang Liu, Jie Qiao

Mol Genet Genomic Med. 2019 Oct; 7(10): e00906. Published online 2019 Aug 20. doi: 10.1002/mgg3.906

PMCID:: PMC6785456

Abstract Article PDF–351K

Select item 67814169.

Prevalence and distribution of G6PD deficiency: implication for the use of primaquine in malaria treatment in Ethiopia

Eugenia Lo, Daibin Zhong, Beka Raya, Kareen Pestana, Cristian Koepfli, Ming-Chieh Lee, Delenasaw Yewhalaw, Guiyun Yan

Malar J. 2019; 18: 340. Published online 2019 Oct 7. doi: 10.1186/s12936-019-2981-x

PMCID:: PMC6781416

Abstract Article PDF–1.6M

Select item 668387210.

Impact of G6PD status on red cell storage and transfusion outcomes

Matthew S. Karafin, Richard O. Francis

Blood Transfus. 2019 Jul; 17(4): 289–295. Published online 2018 Jul 30. doi: 10.2450/2019.0092-19

PMCID:: PMC6683872

Abstract Article PDF–1.3M

Select item 667947911.

Patterns of conservation of spliceosomal intron structures and spliceosome divergence in representatives of the diplomonad and parabasalid lineages

Andrew J. Hudson, David C. McWatters, Bradley A. Bowser, Ashley N. Moore, Graham E. Larue, Scott W. Roy, Anthony G. Russell

BMC Evol Biol. 2019; 19: 162. Published online 2019 Aug 2. doi: 10.1186/s12862-019-1488-y

PMCID:: PMC6679479

Abstract Article PDF–3.6M

Select item 666203912.

Cytotoxic Effects of Juglone and Pterocarya fraxinifolia on Prostate Cancer Cells

Morteza Mahdavi, Mohammad Azadbakht, Akbar Vahdati, Mohammad Shokrzadeh, Ayub Farhadi

J Pharm Bioallied Sci. 2019 Jul-Sep; 11(3): 195–204. doi: 10.4103/jpbs.JPBS_203_18

PMCID:: PMC6662039

Abstract Article

Select item 662512913.

Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin‐two cases

Dragana Protic, Elber Y. Aydin, Flora Tassone, Maria M. Tan, Randi J. Hagerman, Andrea Schneider

Mol Genet Genomic Med. 2019 Jul; 7(7): e00745. Published online 2019 May 18. doi: 10.1002/mgg3.745

PMCID:: PMC6625129

Abstract Article PDF–373K

Select item 659589214.

Prediction of functional consequences of the five newly discovered G6PD variations in Taiwan

Yen-Hui Chiu, Yu-Ning Liu, Hsiao-Jan Chen, Ying-Chen Chang, Shu-Min Kao, Mei-Ying Liu, Ying-Yen Weng, Kwang-Jen Hsiao, Tze-Tze Liu

Data Brief. 2019 Aug; 25: 104129. Published online 2019 Jun 11. doi: 10.1016/j.dib.2019.104129

PMCID:: PMC6595892

Abstract Article PDF–2.2M

Select item 658645315.

Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome

Jafar NASIRI, Mansoor SALEHI, Majid HOSSEINZADEH, Mahdi ZAMANI, Shirin FATTAHPOUR, Omid ARYANI, Esmat FAZEL NAJAFABADI, Maryam JABARZADEH, Sara ASADI, Tahereh GHOLAMREZAPOUR, Maryam SEDGHI, Fatemeh GHORBANI

Iran J Child Neurol. 2019 Summer; 13(3): 25–34.

PMCID:: PMC6586453

Abstract Article PDF–274K

Select item 654957516.

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants

Jianling Ji, Lishuang Shen, Moiz Bootwalla, Catherine Quindipan, Tatiana Tatarinova, Dennis T. Maglinte, Jonathan Buckley, Gordana Raca, Sulagna C. Saitta, Jaclyn A. Biegel, Xiaowu Gai

Cold Spring Harb Mol Case Stud. 2019 Apr; 5(2): a003756. doi: 10.1101/mcs.a003756

PMCID:: PMC6549575

Abstract Article PDF–3.3M

Select item 653659917.

Hypomethylation‐mediated activation of cancer/testis antigen KK‐LC‐1 facilitates hepatocellular carcinoma progression through activating the Notch1/Hes1 signalling

Zhiqiang Chen, Xueliang Zuo, Liyong Pu, Yao Zhang, Guoyong Han, Long Zhang, Zhengshan Wu, Wei You, Jianjie Qin, Xinzheng Dai, Hongbing Shen, Xuehao Wang, Jindao Wu

Cell Prolif. 2019 May; 52(3): e12581. Published online 2019 Mar 20. doi: 10.1111/cpr.12581

PMCID:: PMC6536599

Abstract Article PDF–4.8M

Select item 652557418.

Effect of Deubiquitinase Ovarian Tumor Domain-Containing Protein 5 (OTUD5) on Radiosensitivity of Cervical Cancer by Regulating the Ubiquitination of Akt and its Mechanism

Fengling Yin, Houguang He, Bei Zhang, Jianhua Zheng, Meng Wang, Meng Zhang, Hongxia Cui

Med Sci Monit. 2019; 25: 3469–3475. Published online 2019 May 10. doi: 10.12659/MSM.912904

PMCID:: PMC6525574

Abstract Article PDF–2.1M

Select item 651937119.

ClinGen Allele Registry links information about genetic variants

Piotr Pawliczek, Ronak Y. Patel, Lillian R. Ashmore, Andrew R. Jackson, Chris Bizon, Tristan Nelson, Bradford Powell, Robert R. Freimuth, Natasha Strande, Neethu Shah, Sameer Paithankar, Matt W. Wright, Selina Dwight, Jimmy Zhen, Melissa Landrum, Peter McGarvey, Larry Babb, Sharon E. Plon, Aleksandar Milosavljevic, on behalf of the Clinical Genome (ClinGen) Resource

Hum Mutat. 2018 Nov; 39(11): 1690–1701. Published online 2018 Oct 11. doi: 10.1002/humu.23637

PMCID:: PMC6519371

Abstract Article PDF–1.1M

Select item 644375020.

Earlier Initiation of Antiretroviral Treatment Coincides With an Initial Control of the HIV-1 Sub-Subtype F1 Outbreak Among Men-Having-Sex-With-Men in Flanders, Belgium

Lore Vinken, Katrien Fransen, Lize Cuypers, Ivailo Alexiev, Claudia Balotta, Laurent Debaisieux, Carole Seguin-Devaux, Sergio García Ribas, Perpétua Gomes, Francesca Incardona, Rolf Kaiser, Jean Ruelle, Murat Sayan, Simona Paraschiv, Roger Paredes, Martine Peeters, Anders Sönnerborg, Ellen Vancutsem, Anne-Mieke Vandamme, Sigi Van den Wijngaert, Marc Van Ranst, Chris Verhofstede, Tanja Stadler, Philippe Lemey, Kristel Van Laethem

Front Microbiol. 2019; 10: 613. Published online 2019 Mar 26. doi: 10.3389/fmicb.2019.00613

PMCID:: PMC6443750

Abstract Article PDF–4.9M

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