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Select item 70570961.

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

Abstract Article PDF–1.0M

Select item 70271952.

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 69823483.

Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa

Marianthi Karali, Francesco Testa, Raffaella Brunetti-Pierri, Valentina Di Iorio, Mariateresa Pizzo, Paolo Melillo, Maria Rosaria Barillari, Annalaura Torella, Francesco Musacchia, Luigi D’Angelo, Sandro Banfi, Francesca Simonelli

Int J Mol Sci. 2020 Jan; 21(1): 86. Published online 2019 Dec 20. doi: 10.3390/ijms21010086

PMCID:: PMC6982348

Abstract Article PDF–1.1M

Select item 69819814.

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

Abstract Article PDF–6.4M

Select item 69003935.

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

Abstract Article PDF–604K

Select item 68171286.

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

Abstract Article PDF–531K

Select item 67467707.

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

Abstract Article PDF–2.2M

Select item 67353628.

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

Abstract Article PDF–16M

Select item 67273919.

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

Abstract Article PDF–1.7M

Select item 671226910.

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

Abstract Article PDF–2.0M

Select item 670815711.

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

Abstract Article PDF–616K

Select item 663760612.

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

Abstract Article PDF–775K

Select item 662503013.

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

Abstract Article PDF–2.1M

Select item 659902314.

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuendig, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P. M. Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M. Nishiguchi, Toru Nakazawa, Carlo Rivolta

Nat Commun. 2019; 10: 2884. Published online 2019 Jun 28. doi: 10.1038/s41467-019-10746-4

PMCID:: PMC6599023

Abstract Article PDF–688K

Select item 646565715.

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

Abstract Article PDF–1017K

Select item 645279916.

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

Abstract Article PDF–199K

Select item 641836317.

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

Abstract Article PDF–1.8M

Select item 638244518.

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