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Items: 1 to 20 of 105

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.
Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis
Yang Han, Xiuli Wang, Liyun Zheng, Tingting Zhu, Yuwei Li, Jiaqi Hong, Congcong Xu, Peiguang Wang, Min Gao
Front Genet. 2020; 11: 21. Published online 2020 Feb 4. doi: 10.3389/fgene.2020.00021
PMCID:
PMC7010634
ArticlePDF–1.1M
3.
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
4.
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
5.
Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations
Asia Parveen, Sher Alam Khan, Muhammad Usman Mirza, Hina Bashir, Fatima Arshad, Maria Iqbal, Waseem Ahmad, Ahsan Wahab, Amal Fiaz, Sidra Naz, Fareeha Ashraf, Tayyaba Mobeen, Salman Aziz, Syed Shoaib Ahmed, Noor Muhammad, Nehal F. Hassib, Mostafa I. Mostafa, Nagwa E. Gaboon, Roquyya Gul, Saadullah Khan, Matheus Froeyen, Muhammad Shoaib, Naveed Wasif
Int J Mol Sci. 2019 Nov; 20(21): 5282. Published online 2019 Oct 24. doi: 10.3390/ijms20215282
PMCID:
PMC6862269
ArticlePDF–3.1M
6.
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
7.
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
8.
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
9.
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
10.
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
11.
A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia
Marzieh Rahbaran, Maryam Hassani Doabsari, Simindokht Salavitabar, Neda Mokhberian, Ziba Morovvati, Saeid Morovvati
Cell Mol Biol Lett. 2019; 24: 54. Published online 2019 Aug 19. doi: 10.1186/s11658-019-0174-9
PMCID:
PMC6700831
ArticlePDF–1.0M
12.
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
13.
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
14.
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
15.
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
16.
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
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.
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
19.
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
20.
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
ArticlePDF–2.4M

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