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Items: 1 to 20 of 115

1.
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
ArticlePDF–1.2M
2.
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
ArticlePDF–5.4M
3.
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
ArticlePDF–545K
4.
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
ArticlePDF–2.6M
5.
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
ArticlePDF–344K
6.
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
ArticlePDF–7.6M
7.
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
ArticlePDF–351K
8.
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
ArticlePDF–1.8M
9.
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
ArticlePDF–1.2M
10.
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
ArticlePDF–3.6M
11.
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
Article
12.
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
ArticlePDF–531K
13.
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
ArticlePDF–373K
14.
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
ArticlePDF–274K
15.
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
ArticlePDF–4.8M
16.
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
ArticlePDF–1.6M
17.
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
ArticlePDF–2.1M
18.
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
Correction in:
Front Immunol. 2019; 10: 1184.
PMCID:
PMC6470723
ArticlePDF–1.5M
19.
Bilateral striatal necrosis due to homoplasmic mitochondrial 3697G>A mutation presents with incomplete penetrance and sex bias
Shanshan Zhong, Shumeng Wen, Yusen Qiu, Yanyan Yu, Ling Xin, Yang He, Xuguang Gao, Hezhi Fang, Daojun Hong, Jun Zhang
Mol Genet Genomic Med. 2019 Mar; 7(3): e541. Published online 2019 Jan 8. doi: 10.1002/mgg3.541
PMCID:
PMC6418351
ArticlePDF–865K
20.
Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism
Ilze Konrade, Julija Zavorikina, Aija Fridvalde, Dmitrijs Rots, Ieva Kalere, Ilze Strumfa, Maija Dambrova, Linda Gailite
Front Endocrinol (Lausanne) 2018; 9: 795. Published online 2019 Jan 17. doi: 10.3389/fendo.2018.00795
PMCID:
PMC6345100
ArticlePDF–1.7M

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