Functional Characterization of a Novel Loss ‐of‐Function Mutation of PRPS1 related to Early‐Onset Progressive Nonsyndromic Hearing Loss in Koreans (DFNX1): Potential Implications on Future Therapeutic Intervention
ConclusionsDFNX1 turned out to account for about 2.4% (1/42) of moderate SNHL in a Korean pediatric population. Confirmation of PRPS1 activity deficiency and an audiologic phenotype that initially begins in a milder form of SNHL, as in our family, should indicate the necessity for rigorous genetic screening as early as possible. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - September 30, 2016 Category: Genetics & Stem Cells Authors: So Young Kim, Ah Reum Kim, Nayoung K. D. Kim, Chung Lee, Jin Hee Han, Min Young Kim, Eun ‐Hee Jeon, Woong‐Yang Park, Rahul Mittal, Denise Yan, Xue Zhong Liu, Byung Yoon Choi Tags: RESEARCH ARTICLE Source Type: research
MicroRNA ‐107 is downregulated and having tumor suppressive effect in breast cancer by negatively regulating BDNF
ConclusionMiR‐107 is downregulated and having tumor suppressive effect in breast cancer, likely through the regulation on its inverted downstream target of BDNF. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - September 30, 2016 Category: Genetics & Stem Cells Authors: Bo Gao, Shuai Hao, Wuguo Tian, Yan Jiang, Mei Zhang, Lingjie Guo, Jianjie Zhao, Gang Zhang, Jie Yan, Donglin Luo Tags: RESEARCH ARTICLE Source Type: research
Genetic variation of MMP ‐2(‐735 C > T) and MMP ‐9(‐1562 C > T) gene in risk of development of HAND and severity of HAND
ConclusionsIndividuals with the MMP‐2 ‐735CT genotype, −735 T allele and combined genotype MMP‐2 ‐735TT + MMP‐9 ‐1562CC had an enhanced risk of developing HAND. Those with the MMP‐2 ‐735 CT genotype, −735 T allele and combined genotype of MMP‐2‐735TT + MMP‐9‐1562CC were suggested to have protection from developing severe HAND. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - September 26, 2016 Category: Genetics & Stem Cells Authors: HariOm Singh, Shruti D. Marathe, Vijay Nema, Manisha V. Ghate, Raman R. Gangakhedkar Tags: RESEARCH ARTICLE Source Type: research
Telomere length ‐related gene ACYP2 polymorphism is associated with the risk of HAPE in Chinese Han population
ConclusionsThe present study found that the ACYP2 gene polymorphism significantly decreased the risk of HAPE. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - September 26, 2016 Category: Genetics & Stem Cells Authors: Yongjun He, Xiyang Zhang, Xun Li, Jieli Du, Xue He, Zhiying Zhang, Yuan Zhang, Longli Kang, Tianbo Jin, Dongya Yuan Tags: Research Article Source Type: research
Lentiviral HSV ‐Tk.007‐mediated suicide gene therapy is not toxic for normal brain cells
ConclusionsWe show that HSV‐Tk.007‐mediated suicide gene therapy is not toxic to normal brain cells. This observation is of high relevance for the translation of lentivirus‐mediated suicide gene therapies into the clinic for the treatment of brain tumor patients. Copyright © 2016 John Wiley & Sons, Ltd. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - September 26, 2016 Category: Genetics & Stem Cells Authors: Jubayer A. Hossain, Lars R ømo Ystaas, Jelena Mrdalj, Kristjan Välk, Kristoffer Riecken, Boris Fehse, Rolf Bjerkvig, Janne Grønli, Hrvoje Miletic Tags: Research Article Source Type: research
Issue Information
No abstract is available for this article. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - September 26, 2016 Category: Genetics & Stem Cells Tags: Issue Information Source Type: research
Glomeruli or interstitium targeted by inter ‐renal injections supplemented by electroporation: still a useful tool in renal research
ConclusionsTherefore, our study provides evidence that plasmid transfection via the renal vessels is suitable for glomeruli research and transfection via the ureter is appropriate for studies regarding interstitium lesions. Additionally, we provide evidence that plasmid transfection on live animals is still an applicable and useful tool that is cost‐effective and facile. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - August 31, 2016 Category: Genetics & Stem Cells Authors: Xing Mao, Fang Li, Nianji Yang, Chenyang Qi, Steven Qian Zhang, Zhigang Zhang, Huijuan Wu Tags: RESEARCH ARTICLE Source Type: research
Efficient and non ‐toxic gene delivery by anionic lipoplexes based on polyprenyl ammonium salts and their effects on cell physiology
ConclusionsThe developed carriers constitute a group of promising lipofecting agents of a new type and can be utilized as effective lipofecting agents in vitro and are a promising basis for in vivo applications. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - August 31, 2016 Category: Genetics & Stem Cells Authors: Monika Rak, Anna Ocha łek, Ewa Bielecka, Joanna Latasiewicz, Katarzyna Gawarecka, Jolanta Sroka, Jarosław Czyż, Katarzyna Piwowarczyk, Marek Masnyk, Marek Chmielewski, Tadeusz Chojnacki, Ewa Swiezewska, Zbigniew Madeja Tags: RESEARCH ARTICLE Source Type: research
A haploid HSV ‐1 genome platform for vector development: testing of the tetracycline‐responsive switch shows interference by ICP0
ConclusionsOur new haploid HSV‐1 BAC is a useful platform for building multiply deleted HSV‐1 vectors. Deletion of the ICP34.5 gene in this backbone renders viral growth dependent on ICP0, but ICP0 expression could not be regulated by tet‐responsive transcriptional regulators. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - August 31, 2016 Category: Genetics & Stem Cells Authors: Hena Khalique, Jorge L ópez Marco, Filip Lim Tags: RESEARCH ARTICLE Source Type: research
Telomere length related gene ACYP2 polymorphism is associated with the risk of HAPE in Chinese Han population
ConclusionOur study found ACYP2 gene polymorphism significantly decreased the risk of HAPE. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - August 22, 2016 Category: Genetics & Stem Cells Authors: Yongjun He, Junyu Chen, Xiyang Zhang, Xun Li, Jieli Du, Xue He, Zhiying Zhang, Yuan Zhang, Longli Kang, Tianbo Jin, Dongya Yuan Tags: Research Article Source Type: research
An expedited approach for sustained delivery of bone morphogenetic protein ‐7 to bone defects using gene activated fragments of subcutaneous fat
ConclusionsImplantation of BMP‐7 gene activated fat tissue fragments can elicit regeneration of large bone defects in rats and could become a clinically expeditious strategy for in vivo bone tissue engineering. However, gene expression must be improved in order to reliably induce osseous bridging of critical‐size bone defects. Copyright © 2016 John Wiley & Sons, Ltd. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - August 17, 2016 Category: Genetics & Stem Cells Authors: Volker M. Betz, Oliver B. Betz, Tom Rosin, Alexander Keller, Christian Thirion, Michael Salomon, Suzanne Manthey, Peter Augat, Volkmar Jansson, Peter E. M üller, Stefan Rammelt, Hans Zwipp Tags: Research Article Source Type: research
CYP gene family variants as potential protective factors in drug addiction in Han Chinese
ConclusionsOur findings show that at allelic and genotypic level polymorphisms in CYP3A4 and CYP1A2 are significantly associated with a reduced risk of drug addiction in X'ian Han Chinese individuals. However, this result needs to be confirmed in additional studies. Copyright © 2016 John Wiley & Sons, Ltd. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - August 17, 2016 Category: Genetics & Stem Cells Authors: Hongxing Zhang, Qi Yang, Wenkai Zheng, Yongri Ouyang, Min Yang, Fengjiao Wang, Tianbo Jin, Ji Zhang, Zhenyuan Wang Tags: Research Article Source Type: research
Issue Information
No abstract is available for this article. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - August 17, 2016 Category: Genetics & Stem Cells Tags: Issue Information Source Type: research
Genetic disruption of the KLF1 gene to overexpress gamma ‐globin gene using CRISPR/Cas9 system
ConclusionsThese findings support the induction of an indel mutation in the KLF1 gene leading to a null allele. As a result, the effect of KLF1 on the expression of BCL11A is decreased and its inhibitory effect on γ‐globin gene expression is removed. Application of CRISPR technology to induce indel in KLF1 gene in adult erythroid progenitors may provide a method to activate fetal hemoglobin expression in individuals with β‐thalassemia or sickle cell disease. This article is protected by copyright. All rights reserved. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - July 31, 2016 Category: Genetics & Stem Cells Authors: Laleh Shariati, Hossein Khanahmad, Mansoor Salehi, Zahra Hejazi, Ilnaz Rahimmaesh, Mohammad Amin Tabatabaiefar, Mohammad Hossein Modarressi Tags: RESEARCH ARTICLE Source Type: research
The relationship between polymorphisms of BDNFOS and BDNF genes and Heroin addiction in the Han Chinese population
ConclusionThese results suggest that polymorphisms of BDNFOS play an important role in heroin addiction susceptibility in the Chinese Han population. (Source: The Journal of Gene Medicine)
Source: The Journal of Gene Medicine - July 31, 2016 Category: Genetics & Stem Cells Authors: Tianbo Jin, Hongxing Zhang, Qi Yang, Lei Li, Yongri Ouyang, Min Yang, Fengjiao Wang, Zhenyuan Wang, Ji Zhang, Dongya Yuan Tags: RESEARCH ARTICLE Source Type: research
