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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 66794798.

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 66620399.

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 662512910.

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 658645311.

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 656200412.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Dorota Monies, Mohammed Abouelhoda, Mirna Assoum, Nabil Moghrabi, Rafiullah Rafiullah, Naif Almontashiri, Mohammed Alowain, Hamad Alzaidan, Moeen Alsayed, Shazia Subhani, Edward Cupler, Maha Faden, Amal Alhashem, Alya Qari, Aziza Chedrawi, Hisham Aldhalaan, Wesam Kurdi, Sameena Khan, Zuhair Rahbeeni, Maha Alotaibi, Ewa Goljan, Hadeel Elbardisy, Mohamed ElKalioby, Zeeshan Shah, Hibah Alruwaili, Amal Jaafar, Ranad Albar, Asma Akilan, Hamsa Tayeb, Asma Tahir, Mohammed Fawzy, Mohammed Nasr, Shaza Makki, Abdullah Alfaifi, Hanna Akleh, Suad Yamani, Dalal Bubshait, Mohammed Mahnashi, Talal Basha, Afaf Alsagheir, Musad Abu Khaled, Khalid Alsaleem, Maisoon Almugbel, Manal Badawi, Fahad Bashiri, Saeed Bohlega, Raashida Sulaiman, Ehab Tous, Syed Ahmed, Talal Algoufi, Hamoud Al-Mousa, Emadia Alaki, Susan Alhumaidi, Malak Althagafi, Hadeel Alghamdi, Malak Alghamdi, Ahmed Sahly, Shapar Nahrir, Ali Al-Ahmari, Hisham Alkuraya, Ali Almehaidib, Mohammed Abanemai, Fahad Alsohaibaini, Bandar Alsaud, Rand Arnaout, Ghada M.H. Abdel-Salam, Hasan Aldhekri, Suzan AlKhater, Khalid Alqadi, Essam Alsabban, Turki Alshareef, Khalid Awartani, Hanaa Banjar, Nada Alsahan, Ibraheem Abosoudah, Abdullah Alashwal, Wajeeh Aldekhail, Sami Alhajjar, Sulaiman Al-Mayouf, Abdulaziz Alsemari, Walaa Alshuaibi, Saeed Altala, Abdulhadi Altalhi, Salah Baz, Muddathir Hamad, Tariq Abalkhail, Badi Alenazi, Alya Alkaff, Fahad Almohareb, Fuad Al Mutairi, Mona Alsaleh, Abdullah Alsonbul, Somaya Alzelaye, Shakir Bahzad, Abdulaziz Bin Manee, Ola Jarrad, Neama Meriki, Bassem Albeirouti, Amal Alqasmi, Mohammed AlBalwi, Nawal Makhseed, Saeed Hassan, Isam Salih, Mustafa A. Salih, Marwan Shaheen, Saadeh Sermin, Shamsad Shahrukh, Shahrukh Hashmi, Ayman Shawli, Ameen Tajuddin, Abdullah Tamim, Ahmed Alnahari, Ibrahim Ghemlas, Maged Hussein, Sami Wali, Hatem Murad, Brian F. Meyer, Fowzan S. Alkuraya

Am J Hum Genet. 2019 Jun 6; 104(6): 1182–1201. Published online 2019 May 23. doi: 10.1016/j.ajhg.2019.04.011

Correction in:: Am J Hum Genet. 2019 Oct 3; 105(4): 879.

PMCID:: PMC6562004

Abstract Article PDF–546K

Select item 653659913.

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 652557414.

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 641835115.

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

Abstract Article PDF–865K

Select item 634510016.

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

Abstract Article PDF–1.7M

Select item 632238417.

The key protein of endosomal mRNP transport Rrm4 binds translational landmark sites of cargo mRNAs

Lilli Olgeiser, Carl Haag, Susan Boerner, Jernej Ule, Anke Busch, Janine Koepke, Julian König, Michael Feldbrügge, Kathi Zarnack

EMBO Rep. 2019 Jan; 20(1): e46588. Published online 2018 Dec 14. doi: 10.15252/embr.201846588

PMCID:: PMC6322384

Abstract Article PDF–2.4M

Select item 628270818.

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

Abstract Article PDF–795K

Select item 627609019.

V-ATPases and osteoclasts: ambiguous future of V-ATPases inhibitors in osteoporosis

Xiaohong Duan, Shaoqing Yang, Lei Zhang, Tielin Yang

Theranostics. 2018; 8(19): 5379–5399. Published online 2018 Oct 26. doi: 10.7150/thno.28391

PMCID:: PMC6276090

Abstract Article PDF–1.2M

Select item 611928920.

Plasticity of Functional MAOA Gene Methylation in Acrophobia

Miriam A Schiele, Christiane Ziegler, Leonie Kollert, Andrea Katzorke, Christoph Schartner, Yasmin Busch, Daniel Gromer, Andreas Reif, Paul Pauli, Jürgen Deckert, Martin J Herrmann, Katharina Domschke

Int J Neuropsychopharmacol. 2018 Sep; 21(9): 822–827. Published online 2018 May 31. doi: 10.1093/ijnp/pyy050

PMCID:: PMC6119289

Abstract Article PDF–242K

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