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Select item 70589301.

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

Abstract Article PDF–2.4M

Select item 70566462.

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

Abstract Article PDF–1.1M

Select item 70492013.

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

Abstract Article PDF–2.7M

Select item 70271954.

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 69782575.

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

Abstract Article PDF–826K

Select item 69613156.

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

Abstract Article PDF–1.0M

Select item 69408507.

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

Abstract Article PDF–3.0M

Select item 69331858.

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

Abstract Article PDF–544K

Select item 69127219.

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

Abstract Article PDF–4.2M

Select item 690039310.

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 688362711.

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

Abstract Article PDF–807K

Select item 687931812.

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

Abstract Article PDF–921K

Select item 681857613.

Hb I: A α‐globin chain variant causing unexpected HbA_1c 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

Abstract Article PDF–474K

Select item 681717914.

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

Abstract Article PDF–277K

Select item 677523115.

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