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Select item 70447471.

Genotyping and Copy Number Analysis of Immunoglobin Heavy Chain Variable Genes Using Long Reads

Michael Ford, Ehsan Haghshenas, Corey T. Watson, S. Cenk Sahinalp

iScience. 2020 Mar 27; 23(3): 100883. Published online 2020 Feb 4. doi: 10.1016/j.isci.2020.100883

Correction in:: iScience. 2020 Sep 25; 23(9): 101508.

PMCID:: PMC7044747

Abstract Article PDF–2.0M

Select item 70271952.

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 69784023.

LncRNA DLX6‐AS1 increases the expression of HIF‐1α and promotes the malignant phenotypes of nasopharyngeal carcinoma cells via targeting MiR‐199a‐5p

Bin Yang, Lin Jia, Hui Ren, Caibao Jin, Qingrong Ren, Haiyuan Zhang, Desheng Hu, Hao Zhang, Liu Hu, Tao Xie

Mol Genet Genomic Med. 2020 Jan; 8(1): e1017. Published online 2019 Nov 29. doi: 10.1002/mgg3.1017

PMCID:: PMC6978402

Abstract Article PDF–1.2M

Select item 69782574.

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 69368225.

Lower S-adenosylmethionine levels and DNA hypomethylation of placental growth factor (PlGF) in placental tissue of early-onset preeclampsia-complicated pregnancies

Sandra G. Heil, Emilie M. Herzog, Pieter H. Griffioen, Bertrand van Zelst, Sten P. Willemsen, Yolanda B. de Rijke, Regine P. M. Steegers-Theunissen, Eric A. P. Steegers

PLoS One. 2019; 14(12): e0226969. Published online 2019 Dec 30. doi: 10.1371/journal.pone.0226969

PMCID:: PMC6936822

Abstract Article PDF–541K

Select item 69119976.

Lnc-TCL6 is a potential biomarker for early diagnosis and grade in liver-cirrhosis patients

Lei-Jia Li, Xiao-Ying Wu, Si-Wei Tan, Zi-Jun Xie, Xue-Mei Pan, Shun-Wen Pan, Wu-Ri-Na Bai, Hai-Jiao Li, Hui-Ling Liu, Jie Jiang, Bin Wu

Gastroenterol Rep (Oxf) 2019 Dec; 7(6): 434–443. Published online 2019 Oct 11. doi: 10.1093/gastro/goz050

PMCID:: PMC6911997

Abstract Article PDF–1.0M

Select item 68365507.

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M. B. Carvalho, Malin Kvarnung, Giedre Grigelioniene, Britt-Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii-Hemming, Erik Iwarsson, Maria Johansson-Soller, Kristina Lagerstedt-Robinson, Agne Lieden, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson

Genome Med. 2019; 11: 68. Published online 2019 Nov 7. doi: 10.1186/s13073-019-0675-1

PMCID:: PMC6836550

Abstract Article PDF–2.5M

Select item 68034988.

MicroRNA-300: A Transcellular Mediator in Exosome Regulates Melanoma Progression

Long Chen, Vega Windy Karisma, Huawen Liu, Li Zhong

Front Oncol. 2019; 9: 1005. Published online 2019 Oct 15. doi: 10.3389/fonc.2019.01005

PMCID:: PMC6803498

Abstract Article PDF–3.0M

Select item 66876659.

Functional characterization of a SNP (F51S) found in human alpha 1‐antitrypsin

Hong‐Nhung Trinh, Sei‐Heon Jang, ChangWoo Lee

Mol Genet Genomic Med. 2019 Aug; 7(8): e819. Published online 2019 Jun 28. doi: 10.1002/mgg3.819

PMCID:: PMC6687665

Abstract Article PDF–924K

Select item 653219410.

Association of NTCP polymorphisms with clinical outcome of hepatitis B infection in Thai individuals

Natthaya Chuaypen, Nongnaput Tuyapala, Nutcha Pinjaroen, Sunchai Payungporn, Pisit Tangkijvanich

BMC Med Genet. 2019; 20: 87. Published online 2019 May 22. doi: 10.1186/s12881-019-0823-x

PMCID:: PMC6532194

Abstract Article PDF–625K

Select item 641025111.

Correlation of Thyroid Transcription Factor-1 Expression with EGFR Mutations in Non-Small-Cell Lung Cancer: A Meta-Analysis

Hyeong Su Kim, Jung Han Kim, Boram Han, Dae Ro Choi

Medicina (Kaunas) 2019 Feb; 55(2): 41. Published online 2019 Feb 7. doi: 10.3390/medicina55020041

PMCID:: PMC6410251

Abstract Article PDF–3.0M

Select item 637651012.

A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?

Roberta Milone, Riccardo Masson, Caterina Di Cosmo, Massimo Tonacchera, Veronica Bertini, Andrea Guzzetta, Roberta Battini

Child Neurol Open. 2019; 6: 2329048X19828881. Published online 2019 Feb 12. doi: 10.1177/2329048X19828881

PMCID:: PMC6376510

Abstract Article PDF–159K

Select item 635300513.

Alpha-1 Antitrypsin Deficiency as an Incidental Finding in Clinical Genetic Testing

Craig P. Hersh, Edward J. Campbell, Lauren R. Scott, Benjamin A. Raby

Am J Respir Crit Care Med. 2019 Jan 15; 199(2): 246–248. Published online 2019 Jan 15. doi: 10.1164/rccm.201809-1679LE

PMCID:: PMC6353005

Article PDF–455K

Select item 633921114.

The Relationship between Nkx2.1 and DNA Oxidative Damage Repair in Nickel Smelting Workers: Jinchang Cohort Study

Zhiyuan Cheng, Ning Cheng, Dian Shi, Xiaoyu Ren, Ting Gan, Yana Bai, Kehu Yang

Int J Environ Res Public Health. 2019 Jan; 16(1): 120. Published online 2019 Jan 4. doi: 10.3390/ijerph16010120

PMCID:: PMC6339211

Abstract Article PDF–1.6M

Select item 630310515.

FoxA1 and FoxA2 drive gastric differentiation and suppress squamous identity in NKX2-1-negative lung cancer

Soledad A Camolotto, Shrivatsav Pattabiraman, Timothy L Mosbruger, Alex Jones, Veronika K Belova, Grace Orstad, Mitchell Streiff, Lydia Salmond, Chris Stubben, Klaus H Kaestner, Eric L Snyder

eLife. 2018; 7: e38579. Published online 2018 Nov 26. doi: 10.7554/eLife.38579

PMCID:: PMC6303105

Abstract Article PDF–9.2M

Select item 627609016.

V-ATPases and osteoclasts: ambiguous future of V-ATPases inhibitors in osteoporosis

Xiaohong Duan, Shaoqing Yang, Lei Zhang, Tielin Yang

Theranostics. 2018; 8(19): 5379–5399. Published online 2018 Oct 26. doi: 10.7150/thno.28391

PMCID:: PMC6276090

Abstract Article PDF–1.2M

Select item 620780017.

Methylome analysis of thyroid ectopy shows no disease-specific DNA methylation signature

Satoshi Narumi, Keiko Matsubara, Tomohiro Ishii, Tomonobu Hasegawa

Clin Pediatr Endocrinol. 2018; 27(4): 235–238. Published online 2018 Oct 30. doi: 10.1297/cpe.27.235

PMCID:: PMC6207800

Article PDF–583K

Select item 615052418.

High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism

Nina Makretskaya, Olga Bezlepkina, Anna Kolodkina, Alexey Kiyaev, Evgeny V. Vasilyev, Vasily Petrov, Svetlana Kalinenkova, Oleg Malievsky, Ivan I. Dedov, Anatoly Tiulpakov

PLoS One. 2018; 13(9): e0204323. Published online 2018 Sep 21. doi: 10.1371/journal.pone.0204323