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Items: 1 to 20 of 434

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.
Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China
Fan Jiang, Liandong Zuo, Dongzhi Li, Jian Li, Xuewei Tang, Guilan Chen, Jianying Zhou, Hang Lu, Can Liao
BMC Med Genet. 2020; 21: 43. Published online 2020 Feb 28. doi: 10.1186/s12881-020-0981-x
PMCID:
PMC7049201
ArticlePDF–2.7M
4.
High-resolution profiling of human cytomegalovirus cell-free DNA in human plasma highlights its exceptionally fragmented nature
Vikas Peddu, Benjamin T. Bradley, Amanda M. Casto, Raj Shree, Brice G. Colbert, Hong Xie, Tracy K. Santo, Meei-Li Huang, Edith Y. Cheng, Eric Konnick, Stephen J. Salipante, Keith R. Jerome, Christina M. Lockwood, Alexander L. Greninger
Sci Rep. 2020; 10: 3734. Published online 2020 Feb 28. doi: 10.1038/s41598-020-60655-6
PMCID:
PMC7048871
ArticlePDF–1.4M
5.
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
6.
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
7.
Selection of a Noninvasive Source of Human DNA Envisaging Genotyping Assays in Epidemiological Studies: Urine or Saliva?
Sarah J. D. Nauwelaerts, Dirk Van Geel, Maud Delvoye, Koen De Cremer, Alfred Bernard, Nancy H. C. Roosens, Sigrid C. J. De Keersmaecker
J Biomol Tech. 2020 Apr; 31(1): 27–35. doi: 10.7171/jbt.20-3101-004
PMCID:
PMC6977458
ArticlePDF–631K
8.
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
9.
Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations
Madeline H. Kowalski, Huijun Qian, Ziyi Hou, Jonathan D. Rosen, Amanda L. Tapia, Yue Shan, Deepti Jain, Maria Argos, Donna K. Arnett, Christy Avery, Kathleen C. Barnes, Lewis C. Becker, Stephanie A. Bien, Joshua C. Bis, John Blangero, Eric Boerwinkle, Donald W. Bowden, Steve Buyske, Jianwen Cai, Michael H. Cho, Seung Hoan Choi, Hélène Choquet, L. Adrienne Cupples, Mary Cushman, Michelle Daya, Paul S. de Vries, Patrick T. Ellinor, Nauder Faraday, Myriam Fornage, Stacey Gabriel, Santhi K. Ganesh, Misa Graff, Namrata Gupta, Jiang He, Susan R. Heckbert, Bertha Hidalgo, Chani J. Hodonsky, Marguerite R. Irvin, Andrew D. Johnson, Eric Jorgenson, Robert Kaplan, Sharon L. R. Kardia, Tanika N. Kelly, Charles Kooperberg, Jessica A. Lasky-Su, Ruth J. F. Loos, Steven A. Lubitz, Rasika A. Mathias, Caitlin P. McHugh, Courtney Montgomery, Jee-Young Moon, Alanna C. Morrison, Nicholette D. Palmer, Nathan Pankratz, George J. Papanicolaou, Juan M. Peralta, Patricia A. Peyser, Stephen S. Rich, Jerome I. Rotter, Edwin K. Silverman, Jennifer A. Smith, Nicholas L. Smith, Kent D. Taylor, Timothy A. Thornton, Hemant K. Tiwari, Russell P. Tracy, Tao Wang, Scott T. Weiss, Lu-Chen Weng, Kerri L. Wiggins, James G. Wilson, Lisa R. Yanek, Sebastian Zöllner, Kari E. North, Paul L. Auer, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology & Hemostasis Working Group, Laura M. Raffield, Alexander P. Reiner, Yun Li
PLoS Genet. 2019 Dec; 15(12): e1008500. Published online 2019 Dec 23. doi: 10.1371/journal.pgen.1008500
PMCID:
PMC6953885
ArticlePDF–1.0M
10.
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
11.
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
12.
Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies
Coralea Stephanou, Stella Tamana, Anna Minaidou, Panayiota Papasavva, Marina Kleanthous, Petros Kountouris
J Clin Med. 2019 Nov; 8(11): 1927. Published online 2019 Nov 9. doi: 10.3390/jcm8111927
PMCID:
PMC6912721
ArticlePDF–4.2M
13.
Inherited Chromosomally Integrated Human Herpesvirus 6 Demonstrates Tissue-Specific RNA Expression In Vivo That Correlates with an Increased Antibody Immune Response
Vikas Peddu, Isabelle Dubuc, Annie Gravel, Hong Xie, Meei-Li Huang, Dan Tenenbaum, Keith R. Jerome, Jean-Claude Tardif, Marie-Pierre Dubé, Louis Flamand, Alexander L. Greninger
J Virol. 2020 Jan; 94(1): e01418-19. Prepublished online 2019 Oct 9. Published online 2019 Dec 12. doi: 10.1128/JVI.01418-19
PMCID:
PMC6912112
ArticlePDF–1.1M
14.
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
15.
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
16.
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
17.
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
18.
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
19.
A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major
Pavlos Fanis, Ioanna Kousiappa, Marios Phylactides, Andreani Kyrri, Michael Hadjigavriel, Soteroula Christou, Maria Sitarou, Marina Kleanthous
Hum Mutat. 2019 Oct; 40(10): 1768–1780. Published online 2019 Jun 24. doi: 10.1002/humu.23817
PMCID:
PMC6790707
ArticlePDF–1.5M
20.
Development of a forward-oriented therapeutic lentiviral vector for hemoglobin disorders
Naoya Uchida, Matthew M. Hsieh, Lydia Raines, Juan J. Haro-Mora, Selami Demirci, Aylin C. Bonifacino, Allen E. Krouse, Mark E. Metzger, Robert E. Donahue, John F. Tisdale
Nat Commun. 2019; 10: 4479. Published online 2019 Oct 2. doi: 10.1038/s41467-019-12456-3
PMCID:
PMC6775231
ArticlePDF–2.2M

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