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Items: 1 to 20 of 88

1.
Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia‐induced acute pancreatitis in pregnancy
Xiao‐Lei Shi, Qi Yang, Na Pu, Xiao‐Yao Li, Wei‐Wei Chen, Jing Zhou, Gang Li, Zhi‐Hui Tong, Claude Férec, David N. Cooper, Jian‐Min Chen, Wei‐Qin Li
Mol Genet Genomic Med. 2020 Mar; 8(3): e1048. Published online 2020 Jan 21. doi: 10.1002/mgg3.1048
PMCID:
PMC7057096
AbstractArticlePDF–1.0M
2.
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
AbstractArticlePDF–1.2M
3.
A Novel Tissue and Stem Cell Specific TERF1 Splice Variant Is Downregulated in Tumour Cells
Yousef Ashraf Tawfik Morcos, Gregoire Najjar, Sabine Meessen, Britta Witt, Anca Azoitei, Mukesh Kumar, Gamal Wakileh, Klaus Schwarz, Hubert Schrezenmeier, Friedemann Zengerling, Christian Bolenz, Cagatay Günes
Int J Mol Sci. 2020 Jan; 21(1): 85. Published online 2019 Dec 20. doi: 10.3390/ijms21010085
PMCID:
PMC6981981
AbstractArticlePDF–6.4M
4.
Gene‐level genome‐wide association analysis of suicide attempt, a preliminary study in a psychiatric Mexican population
Thelma Beatriz González‐Castro, José Jaime Martínez‐Magaña, Carlos Alfonso Tovilla‐Zárate, Isela Esther Juárez‐Rojop, Emmanuel Sarmiento, Alma Delia Genis‐Mendoza, Humberto Nicolini
Mol Genet Genomic Med. 2019 Dec; 7(12): e983. Published online 2019 Oct 2. doi: 10.1002/mgg3.983
PMCID:
PMC6900393
AbstractArticlePDF–604K
5.
Rare LPL gene missense mutation in an infant with hypertriglyceridemia
Yuan‐yuan Qin, Ai‐qiu Wei, Qing‐wen Shan, Xiao‐ying Xian, Yang‐yang Wu, Lin Liao, Jie Yan, Zhan‐feng Lai, Fa‐quan Lin
J Clin Lab Anal. 2018 Jul; 32(6): e22414. Published online 2018 Feb 25. doi: 10.1002/jcla.22414
PMCID:
PMC6817128
AbstractArticlePDF–531K
6.
Metadherin enhances vulnerability of cancer cells to ferroptosis
Jianling Bi, Shujie Yang, Long Li, Qun Dai, Nicholas Borcherding, Brett A. Wagner, Garry R. Buettner, Douglas R. Spitz, Kimberly K. Leslie, Jun Zhang, Xiangbing Meng
Cell Death Dis. 2019 Oct; 10(10): 682. Published online 2019 Sep 17. doi: 10.1038/s41419-019-1897-2
PMCID:
PMC6746770
AbstractArticlePDF–2.2M
7.
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
AbstractArticlePDF–1.2M
8.
GPR124 facilitates pericyte polarization and migration by regulating the formation of filopodia during ischemic injury
Dan-Yang Chen, Ning-He Sun, Ya-Ping Lu, Ling-Juan Hong, Tian-Tian Cui, Cheng-Kun Wang, Xing-Hui Chen, Shuai-Shuai Wang, Li-Li Feng, Wei-Xing Shi, Kohji Fukunaga, Zhong Chen, Ying-Mei Lu, Feng Han
Theranostics. 2019; 9(20): 5937–5955. Published online 2019 Aug 14. doi: 10.7150/thno.34168
PMCID:
PMC6735362
AbstractArticlePDF–16M
9.
A cross-sectional study on factors associated with hypertension and genetic polymorphisms of renin-angiotensin-aldosterone system in Chinese hui pilgrims to hajj
Yinxia Zhang, Fangfang Shi, Zhanbiao Yu, Aimin Yang, Maolan Zeng, Jiaoyue Wang, Haiping Yin, Benzhong Zhang, Xiao Ma
BMC Public Health. 2019; 19: 1223. Published online 2019 Sep 4. doi: 10.1186/s12889-019-7357-1
PMCID:
PMC6727391
AbstractArticlePDF–1.7M
10.
Delayed endometrial decidualisation in polycystic ovary syndrome; the role of AR-MAGEA11
Kinza Younas, Marcos Quintela, Samantha Thomas, Jetzabel Garcia-Parra, Lauren Blake, Helen Whiteland, Adnan Bunkheila, Lewis W. Francis, Lavinia Margarit, Deyarina Gonzalez, R. Steven Conlan
J Mol Med (Berl) 2019; 97(9): 1315–1327. Published online 2019 Jun 29. doi: 10.1007/s00109-019-01809-6
PMCID:
PMC6713698
AbstractArticlePDF–2.0M
11.
肺癌组织中DNA聚合酶β基因突变的研究
吴 青峻, 田 文鑫, 于 瀚博, 黄 川, 焦 鹏, 马 超, 王 永忠, 黄 文, 孙 耀光, 艾 斌, 佟 宏峰
Zhongguo Fei Ai Za Zhi. 2019 Jul 20; 22(7): 427–432. Chinese. doi: 10.3779/j.issn.1009-3419.2019.07.04
PMCID:
PMC6712269
AbstractArticlePDF–2.0M
12.
Diversity of ATM gene variants: a population-based genome data analysis for precision medicine
Hisanori Fukunaga, Yasuyuki Taki, Kevin M. Prise
Hum Genomics. 2019; 13: 38. Published online 2019 Aug 23. doi: 10.1186/s40246-019-0234-2
PMCID:
PMC6708157
AbstractArticlePDF–616K
13.
A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report
Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė
BMC Med Genet. 2019; 20: 127. Published online 2019 Jul 17. doi: 10.1186/s12881-019-0859-y
PMCID:
PMC6637606
AbstractArticlePDF–775K
14.
TFAP2C increases cell proliferation by downregulating GADD45B and PMAIP1 in non-small cell lung cancer cells
Hyunhee Do, Dain Kim, JiHoon Kang, Beomseok Son, Danbi Seo, HyeSook Youn, BuHyun Youn, Wanyeon Kim
Biol Res. 2019; 52: 35. Published online 2019 Jul 11. doi: 10.1186/s40659-019-0244-5
PMCID:
PMC6625030
AbstractArticlePDF–2.1M
15.
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
Simon H. Jiang, Vicki Athanasopoulos, Julia I. Ellyard, Aaron Chuah, Jean Cappello, Amelia Cook, Savit B. Prabhu, Jacob Cardenas, Jinghua Gu, Maurice Stanley, Jonathan A. Roco, Ilenia Papa, Mehmet Yabas, Giles D. Walters, Gaetan Burgio, Kathryn McKeon, James M. Byers, Charlotte Burrin, Anselm Enders, Lisa A. Miosge, Pablo F. Canete, Marija Jelusic, Velibor Tasic, Adrian C. Lungu, Stephen I. Alexander, Arthur R. Kitching, David A. Fulcher, Nan Shen, Todor Arsov, Paul A. Gatenby, Jeff J. Babon, Dominic F. Mallon, Carmen de Lucas Collantes, Eric A. Stone, Philip Wu, Matthew A. Field, Thomas D. Andrews, Eun Cho, Virginia Pascual, Matthew C. Cook, Carola G. Vinuesa
Nat Commun. 2019; 10: 2201. Published online 2019 May 17. doi: 10.1038/s41467-019-10242-9
PMCID:
PMC6525203
AbstractArticlePDF–3.1M
16.
Integrated bioinformatics analysis of key genes involved in progress of colon cancer
Haojie Yang, Jiong Wu, Jingjing Zhang, Zhigang Yang, Wei Jin, Ying Li, Lei Jin, Lu Yin, Hua Liu, Zhenyi Wang
Mol Genet Genomic Med. 2019 Apr; 7(4): e00588. Published online 2019 Feb 11. doi: 10.1002/mgg3.588
PMCID:
PMC6465657
AbstractArticlePDF–1017K
17.
Genetic polymorphisms in Sox17 associated with intracranial aneurysm in Chinese Han people: a genotype-phenotype study
Mengqi Li, Weihan Wang, Lin Zhang, Wenqiang Xin, Yan Zhao, Linchun Huan, Jianjun Yu, Hao Zhang, Jianning Zhang, Shuyuan Yang, Degang Liang, Weidong Yang, Xinyu Yang
Neuropsychiatr Dis Treat. 2019; 15: 779–783. Published online 2019 Apr 2. doi: 10.2147/NDT.S193478
Correction in:
Neuropsychiatr Dis Treat. 2019; 15: 2291.
PMCID:
PMC6452799
AbstractArticlePDF–199K
18.
Interaction of germline variants in a family with a history of early‐onset clear cell renal cell carcinoma
Emmanuelle Nicolas, Elena V. Demidova, Waleed Iqbal, Ilya G. Serebriiskii, Ramilia Vlasenkova, Pooja Ghatalia, Yan Zhou, Kim Rainey, Andrea F. Forman, Roland L. Dunbrack, Jr, Erica A. Golemis, Michael J. Hall, Mary B. Daly, Sanjeevani Arora
Mol Genet Genomic Med. 2019 Mar; 7(3): e556. Published online 2019 Jan 24. doi: 10.1002/mgg3.556
PMCID:
PMC6418363
AbstractArticlePDF–1.8M
19.
The −44 C/G (rs1800972) polymorphism of the β‐defensin 1 is associated with increased risk of developing type 2 diabetes mellitus
Marco Antonio Martinez‐Rios, Gilberto Vargas‐Alarcon, Marco Antonio Peña‐Duque, Oscar Perez‐Mendez, Jose Manuel Rodriguez‐Perez, Nonanzit Perez‐Hernandez, Gabriel Herrera‐Maya, Rosalinda Posadas‐Sanchez, Carlos Posadas‐Romero, Jose Manuel Fragoso
Mol Genet Genomic Med. 2019 Jan; 7(1): e00509. Published online 2018 Dec 13. doi: 10.1002/mgg3.509
PMCID:
PMC6382445
AbstractArticlePDF–431K
20.
Apoptotic Effects of Linum album Extracts on AGS Human Gastric Adenocarcinoma Cells and ZNF703 Oncogene Expression
Elham Akbari Asl, Jalil Fallah Mehrabadi, Davoud Afshar, Hassan Noorbazargan, Hossein Tahmasebi, Arian Rahimi
Asian Pac J Cancer Prev. 2018; 19(10): 2911–2916. doi: 10.22034/APJCP.2018.19.10.2911
PMCID:
PMC6291028
AbstractArticlePDF–608K

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