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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

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

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

Article PDF–1.2M

Select item 69987464.

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing

Sun Hee Rosenthal, Weimin Sun, Ke Zhang, Yan Liu, Quoclinh Nguyen, Anna Gerasimova, Camille Nery, Linda Cheng, Carolyn Castonguay, Elaine Hiller, James Li, Christopher Elzinga, David Wolfson, Alla Smolgovsky, Rebecca Chen, Arlene Buller-Burckle, Joseph Catanese, Andrew Grupe, Felicitas Lacbawan, Renius Owen

Biomed Res Int. 2020; 2020: 3289023. Published online 2020 Jan 22. doi: 10.1155/2020/3289023

PMCID:: PMC6998746

Article PDF–443K

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

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

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

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

Article PDF–544K

Select item 69003939.

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

Article PDF–604K

Select item 688362710.

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

Article PDF–807K

Select item 687931811.

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

Article PDF–921K

Select item 686362612.

Malignant phenotype and two SDHD mutations in a family with paraganglioma syndrome type 1

FRANCIELE B. LEIDENZ, LUCIANA BASTOS-RODRIGUES, MARCELO OLIVEIRA, MARCELO MAMEDE, MARTA SARQUIS, EITAN FRIEDMAN, LUIZ DE MARCO

Genet Res (Camb) 2015; 97: e3. Published online 2015 Mar 30. doi: 10.1017/S0016672315000063

PMCID:: PMC6863626

Article PDF–170K

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

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

Article PDF–277K

Select item 677551015.

The voltage-gated sodium channel Na_v1.7 associated with endometrial cancer

Junxiu Liu, Hao Tan, Wancai Yang, Shuzhong Yao, Liang Hong

J Cancer. 2019; 10(20): 4954–4960. Published online 2019 Aug 27. doi: 10.7150/jca.31544

PMCID:: PMC6775510

Article PDF–774K

Select item 674502816.

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

Article PDF–5.3M

Select item 673551017.

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

Article PDF–2.3M

Select item 672138518.

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

Article PDF–786K

Select item 662514719.

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

Article PDF–1.0M

Select item 659049520.

HIF-1α Stabilization Increases miR-210 Eliciting First Trimester Extravillous Trophoblast Mitochondrial Dysfunction

Lauren Anton, Ann DeVine, Erzsebet Polyak, Anthony Olarerin-George, Amy G. Brown, Marni J. Falk, Michal A. Elovitz

Front Physiol. 2019; 10: 699. Published online 2019 Jun 6. doi: 10.3389/fphys.2019.00699

PMCID:: PMC6590495

Article PDF–1.3M

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