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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

Article PDF–1.2M

Select item 70256442.

Endoplasmic Reticulum Stress Activation in Alport Syndrome Varies Between Genotype and Cell Type

Cong Wang, Shenghui Liang, Shijia Xing, Ke Xu, Huijie Xiao, Haiyue Deng, Xiaoyuan Wang, Liangyi Chen, Jie Ding, Fang Wang

Front Genet. 2020; 11: 36. Published online 2020 Feb 10. doi: 10.3389/fgene.2020.00036

PMCID:: PMC7025644

Article PDF–4.2M

Select item 69746043.

Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families

Yanqin Zhang, Jie Ding, Suxia Wang, Hongwen Zhang, Xuhui Zhong, Xiaoyu Liu, Ke Xu, Fang Wang

Eur J Hum Genet. 2020 Feb; 28(2): 244–252. Published online 2019 Oct 1. doi: 10.1038/s41431-019-0523-1

PMCID:: PMC6974604

Article PDF–420K

Select item 69702764.

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

Article PDF–5.4M

Select item 69653895.

Long-term follow-up of an Alport syndrome patient with a novel mutation of COL4A5

Rong Xiang, Jing-Jing Li, Ji-Shi Liu, Liang-Liang Fan, Lin Li, Kun Xia, Hao Zhang

Int J Clin Exp Pathol. 2017; 10(8): 8709–8714. Published online 2017 Aug 1.

PMCID:: PMC6965389

Article PDF–423K

Select item 69003676.

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

Article PDF–545K

Select item 67963007.

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

Article PDF–2.6M

Select item 67875388.

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

Article PDF–344K

Select item 67859349.

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

Article PDF–7.6M

Select item 678545610.

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

Article PDF–351K

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

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

Article

Select item 666070013.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Article PDF–980K

Select item 662536514.

Genotype‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome

Shunlai Shang, Fei Peng, Tao Wang, Xiaoyuan Wu, Ping Li, Qinggang Li, Xiang M. Chen

Mol Genet Genomic Med. 2019 Jul; 7(7): e00741. Published online 2019 May 29. doi: 10.1002/mgg3.741

PMCID:: PMC6625365

Article PDF–1.1M

Select item 662512915.

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

Article PDF–373K

Select item 658645316.

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

Article PDF–274K

Select item 656557317.

Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique

Xuechao Zhao, Chen Chen, Yanfu Wei, Ganye Zhao, Lina Liu, Conghui Wang, Junjun Zhang, Xiangdong Kong

Mol Genet Genomic Med. 2019 Jun; 7(6): e653. Published online 2019 Apr 9. doi: 10.1002/mgg3.653

PMCID:: PMC6565573

Article PDF–638K

Select item 653659918.

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