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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 70271953.

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 70167884.

Post-Translational Modification and Natural Mutation of TRPC Channels

Xianji Liu, Xiaoqiang Yao, Suk Ying Tsang

Cells. 2020 Jan; 9(1): 135. Published online 2020 Jan 7. doi: 10.3390/cells9010135

PMCID:: PMC7016788

Abstract Article PDF–3.8M

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 69746046.

Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families

Yanqin Zhang, Jie Ding, Suxia Wang, Hongwen Zhang, Xuhui Zhong, Xiaoyu Liu, Ke Xu, Fang Wang

Eur J Hum Genet. 2020 Feb; 28(2): 244–252. Published online 2019 Oct 1. doi: 10.1038/s41431-019-0523-1

PMCID:: PMC6974604

Abstract Article PDF–420K

Select item 69613157.

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 69581838.

Upregulated TRPC5 plays an important role in development of nasal polyps by activating eosinophilic inflammation and NF-κB signaling pathways

Zhijie Fu, Lintao Gu, Na Li, Zhiyong Ma, Mingying Ling, Yuanyuan Wang

Int J Clin Exp Pathol. 2018; 11(4): 1935–1945. Published online 2018 Apr 1.

PMCID:: PMC6958183

Abstract Article PDF–1.1M

Select item 69408509.

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 693318510.

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 690039311.

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 688362712.

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