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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 69702762.

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 69003673.

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 67963004.

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 67875385.

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 67859346.

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 67854567.

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 67761868.

Genome profiling revealed the activation of IL2RG/JAK3/STAT5 in peripheral T-cell lymphoma expressing the ITK-SYK fusion gene

Lei-Lei Zhang, Hua-Xiong Pan, Yi-Xuan Wang, Tao Guo, Lin Liu

Int J Oncol. 2019 Nov; 55(5): 1077–1089. Published online 2019 Sep 20. doi: 10.3892/ijo.2019.4882

PMCID:: PMC6776186

Abstract Article PDF–1.8M

Select item 67426469.

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 667947910.

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 666203911.

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 663662412.

Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1

E. Mamcarz, S. Zhou, T. Lockey, H. Abdelsamed, S.J. Cross, G. Kang, Z. Ma, J. Condori, J. Dowdy, B. Triplett, C. Li, G. Maron, J.C. Aldave Becerra, J.A. Church, E. Dokmeci, J.T. Love, A.C. da Matta Ain, H. van der Watt, X. Tang, W. Janssen, B.Y. Ryu, S.S. De Ravin, M.J. Weiss, B. Youngblood, J.R. Long‑Boyle, S. Gottschalk, M.M. Meagher, H.L. Malech, J.M. Puck, M.J. Cowan, B.P. Sorrentino

N Engl J Med. Author manuscript; available in PMC 2019 Oct 18.

Published in final edited form as: N Engl J Med. 2019 Apr 18; 380(16): 1525–1534. doi: 10.1056/NEJMoa1815408

PMCID:: PMC6636624

Abstract Article PDF–531K

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 658645314.

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 653659915.

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 653408716.

Family-Based Next-Generation Sequencing Study Identifies an IL2RG Variant in an Infant with Primary Immunodeficiency

Aravind K. Bandari, Sunil Bhat, MV Archana, Sunita Yadavalli, Krishna Patel, Pavithra Rajagopalan, Anil K. Madugundu, Manisha Madkaikar, Kavita Reddy, Babylakshmi Muthusamy, Akhilesh Pandey

OMICS. 2019 May 1; 23(5): 285–290. Published online 2019 May 17. doi: 10.1089/omi.2018.0196

PMCID:: PMC6534087

Abstract Article PDF–1.6M

Select item 652557417.

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 647072318.

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

Cristina Cifaldi, Immacolata Brigida, Federica Barzaghi, Matteo Zoccolillo, Valentina Ferradini, Davide Petricone, Maria Pia Cicalese, Dejan Lazarevic, Davide Cittaro, Maryam Omrani, Enrico Attardi, Francesca Conti, Alessia Scarselli, Maria Chiriaco, Silvia Di Cesare, Francesco Licciardi, Montin Davide, Francesca Ferrua, Clementina Canessa, Claudio Pignata, Silvia Giliani, Simona Ferrari, Georgia Fousteri, Graziano Barera, Pietro Merli, Paolo Palma, Simone Cesaro, Marco Gattorno, Antonio Trizzino, Viviana Moschese, Loredana Chini, Anna Villa, Chiara Azzari, Andrea Finocchi, Franco Locatelli, Paolo Rossi, Federica Sangiuolo, Alessandro Aiuti, Caterina Cancrini, Gigliola Di Matteo

Front Immunol. 2019; 10: 316. Published online 2019 Apr 11. doi: 10.3389/fimmu.2019.00316