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Items: 1 to 20 of 178

1.
The Absence of Calponin 2 in Rabbits Suggests Caution in Choosing Animal Models
Olesya Plazyo, Weilong Hao, Jian-Ping Jin
Front Bioeng Biotechnol. 2020; 8: 42. Published online 2020 Feb 28. doi: 10.3389/fbioe.2020.00042
PMCID:
PMC7058930
ArticlePDF–2.4M
2.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
Kathleen A. Williamson, H. Nikki Hall, Liusaidh J. Owen, Benjamin J. Livesey, Isabel M. Hanson, G. G. W. Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael Clarke, Alexander T. Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen-Kaesbach, Elise Heon, Jane Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Francoise Meire, Anthony T. Moore, Michael Parker, Charlotte M. Reiff, Jay Self, Edward S. Tobias, Joke B. G. M. Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A. Marsh, David R. FitzPatrick
Genet Med. 2020; 22(3): 598–609. Published online 2019 Nov 8. doi: 10.1038/s41436-019-0685-9
PMCID:
PMC7056646
ArticlePDF–1.1M
3.
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
4.
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder
Lauren Cascio, Chin‐Fu Chen, Rini Pauly, Sujata Srikanth, Kelly Jones, Cindy D. Skinner, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto
Mol Genet Genomic Med. 2020 Jan; 8(1): e1036. Published online 2019 Nov 7. doi: 10.1002/mgg3.1036
PMCID:
PMC6978257
ArticlePDF–826K
5.
Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population
Farjana Akther Noor, Nusrat Sultana, Golam Sarower Bhuyan, Md Tarikul Islam, Mohabbat Hossain, Suprovath Kumar Sarker, Khaleda Islam, Waqar Ahmed Khan, Mujahida Rahman, Syeda Kashfi Qadri, Hossain Uddin Shekhar, Firdausi Qadri, Syed Saleheen Qadri, Kaiissar Mannoor
Orphanet J Rare Dis. 2020; 15: 15. Published online 2020 Jan 15. doi: 10.1186/s13023-020-1294-z
PMCID:
PMC6961315
ArticlePDF–1.0M
6.
Epigenetic Modification as a Regulatory Mechanism for Spatiotemporal Dynamics of ANO1 Expression in Salivary Glands
Yonghwan Shin, Sang-Woo Lee, Eun Namkoong, Woojin An, Jong-Ho Lee, Peter D Brown, Kyungpyo Park
Int J Mol Sci. 2019 Dec; 20(24): 6298. Published online 2019 Dec 13. doi: 10.3390/ijms20246298
PMCID:
PMC6940850
ArticlePDF–3.0M
7.
Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia
ZaenalAdi Susanto, Wahyu Siswandari, Lantip Rujito
Mol Genet Metab Rep. 2020 Mar; 22: 100550. Published online 2019 Dec 20. doi: 10.1016/j.ymgmr.2019.100550
PMCID:
PMC6933185
ArticlePDF–544K
8.
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
ArticlePDF–604K
9.
Validation of an epigenetic field of susceptibility to detect significant prostate cancer from non-tumor biopsies
Bing Yang, Tyler Etheridge, Johnathon McCormick, Adam Schultz, Tariq A. Khemees, Nathan Damaschke, Glen Leverson, Kaitlin Woo, Geoffrey A. Sonn, Eric A. Klein, Mike Fumo, Wei Huang, David F. Jarrard
Clin Epigenetics. 2019; 11: 168. Published online 2019 Nov 28. doi: 10.1186/s13148-019-0771-5
PMCID:
PMC6883627
ArticlePDF–807K
10.
Effect of MALAT1 Polymorphisms on Papillary Thyroid Cancer in a Chinese Population
Jing Wen, Liang Chen, Hua Tian, Ji Li, Miao Zhang, Qing Cao, Wei Zhang, Shi Chen, Lixin Shi
J Cancer. 2019; 10(23): 5714–5721. Published online 2019 Sep 19. doi: 10.7150/jca.28887
PMCID:
PMC6879318
ArticlePDF–921K
11.
Reactive oxygen/nitrogen species contribute substantially to the antileukemia effect of APO866, a NAD lowering agent
Anne-Julie Cloux, Dominique Aubry, Mathieu Heulot, Christian Widmann, Oussama ElMokh, Francesco Piacente, Michele Cea, Alessio Nencioni, Axel Bellotti, Karima Bouzourène, Maxime Pellegrin, Lucia Mazzolai, Michel A. Duchosal, Aimable Nahimana
Oncotarget. 2019 Nov 19; 10(62): 6723–6738. Published online 2019 Nov 19. doi: 10.18632/oncotarget.27336
PMCID:
PMC6877101
ArticlePDF–2.5M
12.
Circular RNAs in Clear Cell Renal Cell Carcinoma: Their Microarray-Based Identification, Analytical Validation, and Potential Use in a Clinico-Genomic Model to Improve Prognostic Accuracy
Antonia Franz, Bernhard Ralla, Sabine Weickmann, Monika Jung, Hannah Rochow, Carsten Stephan, Andreas Erbersdobler, Ergin Kilic, Annika Fendler, Klaus Jung
Cancers (Basel) 2019 Oct; 11(10): 1473. Published online 2019 Sep 30. doi: 10.3390/cancers11101473
PMCID:
PMC6826865
ArticlePDF–3.8M
13.
Hb I: A α‐globin chain variant causing unexpected HbA1c results
Anping Xu, Jian Sun, Jie Li, Weidong Chen, Ruoyang Zheng, Zhonghou Han, Ling Ji
J Clin Lab Anal. 2019 Feb; 33(2): e22671. Published online 2018 Sep 17. doi: 10.1002/jcla.22671
PMCID:
PMC6818576
ArticlePDF–474K
14.
Rapid Screening for Deleted Form of β‐thalassemia by Real‐Time Quantitative PCR
Liang‐Yin Ke, Jan‐Gowth Chang, Chao‐Sung Chang, Li‐Ling Hsieh, Ta‐Chih Liu
J Clin Lab Anal. 2017 Jan; 31(1): e22019. Published online 2016 Aug 16. doi: 10.1002/jcla.22019
PMCID:
PMC6817179
ArticlePDF–277K
15.
Histone Acetyltransferase-Dependent Pathways Mediate Upregulation of NADPH Oxidase 5 in Human Macrophages under Inflammatory Conditions: A Potential Mechanism of Reactive Oxygen Species Overproduction in Atherosclerosis
Mihaela-Loredana Vlad, Simona-Adriana Manea, Alexandra-Gela Lazar, Monica Raicu, Horia Muresian, Maya Simionescu, Adrian Manea
Oxid Med Cell Longev. 2019; 2019: 3201062. Published online 2019 Sep 2. doi: 10.1155/2019/3201062
PMCID:
PMC6745143
ArticlePDF–6.3M
16.
Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3
Xueshan Xiao, Wenmin Sun, Jiamin Ouyang, Shiqiang Li, Xiaoyun Jia, Zhiqun Tan, J. Fielding Hejtmancik, Qingjiong Zhang
Hum Genet. 2019; 138(10): 1077–1090. Published online 2019 Jun 6. doi: 10.1007/s00439-019-02039-z
PMCID:
PMC6745028
ArticlePDF–5.3M
17.
Increasing the low lipid phosphate phosphatase 1 activity in breast cancer cells decreases transcription by AP-1 and expressions of matrix metalloproteinases and cyclin D1/D3
Xiaoyun Tang, Todd P.W. McMullen, David N. Brindley
Theranostics. 2019; 9(21): 6129–6142. Published online 2019 Aug 14. doi: 10.7150/thno.37094
PMCID:
PMC6735510
ArticlePDF–2.3M
18.
Anoctamin 3: A Possible Link between Cluster Headache and Ca2+ Signaling
Caroline Ran, Carmen Fourier, Donia Arafa, Franziska Liesecke, Christina Sjöstrand, Elisabet Waldenlind, Anna Steinberg, Andrea Carmine Belin
Brain Sci. 2019 Aug; 9(8): 184. Published online 2019 Jul 30. doi: 10.3390/brainsci9080184
PMCID:
PMC6721385
ArticlePDF–786K
19.
NADPH oxidase 4 mediates TGF-β1/Smad signaling pathway induced acute kidney injury in hypoxia
Sungkwon Cho, Seong-Lan Yu, Jaeku Kang, Bo Young Jeong, Hoi Young Lee, Chang Gyo Park, Young-Bin Yu, Dong-Chan Jin, Won-Min Hwang, Sung-Ro Yun, Ho Seung Song, Moon Hyang Park, Se-Hee Yoon
PLoS One. 2019; 14(7): e0219483. Published online 2019 Jul 18. doi: 10.1371/journal.pone.0219483
PMCID:
PMC6638919
ArticlePDF–4.2M
20.
Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism
Ye Lin, Xihui Chen, Ying Yang, Fengyu Che, Sijia Zhang, Lijuan Yuan, Yuanming Wu
Mol Genet Genomic Med. 2019 Jul; 7(7): e00687. Published online 2019 Jun 14. doi: 10.1002/mgg3.687
PMCID:
PMC6625147
ArticlePDF–1.0M

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