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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 69530665.

A Novel Small Molecule Inhibits Intrahepatocellular Accumulation of Z-Variant Alpha 1-Antitrypsin In Vitro and In Vivo

Xiaojuan Zhang, Kien Pham, Danmeng Li, Ryan J. Schutte, David Hernandez Gonzalo, Penghui Zhang, Regina Oshins, Weihong Tan, Mark Brantly, Chen Liu, David A. Ostrov

Cells. 2019 Dec; 8(12): 1586. Published online 2019 Dec 6. doi: 10.3390/cells8121586

PMCID:: PMC6953066

Abstract Article PDF–3.8M

Select item 69368226.

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 69119977.

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 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 67808889.

Alpha-1-Antitrypsin Ameliorates Pristane Induced Diffuse Alveolar Hemorrhage in Mice

Ahmed S. Elshikha, Georges Abboud, Lonneke van der Meijden-Erkelens, Yuanqing Lu, Mong-Jen Chen, Ye Yuan, Godelieva Ponjee, Leilani Zeumer, Minoru Satoh, Laurence Morel, Sihong Song

J Clin Med. 2019 Sep; 8(9): 1341. Published online 2019 Aug 29. doi: 10.3390/jcm8091341

PMCID:: PMC6780888

Abstract Article PDF–3.6M

Select item 677075910.

Adipose Mesenchymal Extracellular Vesicles as Alpha-1-Antitrypsin Physiological Delivery Systems for Lung Regeneration

Elia Bari, Ilaria Ferrarotti, Dario Di Silvestre, Pietro Grisoli, Valentina Barzon, Alice Balderacchi, Maria Luisa Torre, Rossana Rossi, Pierluigi Mauri, Angelo Guido Corsico, Sara Perteghella

Cells. 2019 Sep; 8(9): 965. Published online 2019 Aug 23. doi: 10.3390/cells8090965

PMCID:: PMC6770759

Abstract Article PDF–1.9M

Select item 668766511.

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 663192112.

Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency

Friedrich Kueppers, Mark D. Andrake, Qifang Xu, Roland L. Dunbrack, Jr, Joannah Kim, Christopher L. Sanders

BMC Med Genet. 2019; 20: 125. Published online 2019 Jul 15. doi: 10.1186/s12881-019-0852-5

PMCID:: PMC6631921

Abstract Article PDF–1.5M

Select item 654955813.

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

Nurit Assia Batzir, Pranjali K. Bhagwat, Tanya N. Eble, Pengfei Liu, Christine M. Eng, Sarah H. Elsea, Laurie A. Robak, Fernando Scaglia, Alica M. Goldman, Shweta U. Dhar, Michael F. Wangler

Cold Spring Harb Mol Case Stud. 2019 Jun; 5(3): a003673. doi: 10.1101/mcs.a003673

PMCID:: PMC6549558

Abstract Article PDF–7.3M

Select item 653219414.

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 645203015.

Circulating Truncated Alpha-1 Antitrypsin Glycoprotein in Patient Plasma Retains Anti-Inflammatory Capacity

Emer P. Reeves, Danielle M. Dunlea, Karen McQuillan, Ciara A. O’Dwyer, Tomás P. Carroll, Radka Saldova, Prithvi Reddy Akepati, Mark R. Wormald, Oliver J. McElvaney, Vipatsorn Shutchaidat, Michael Henry, Paula Meleady, Joanne Keenan, Derek C. Liberti, Darrell N. Kotton, Pauline M. Rudd, Andrew A. Wilson, Noel G. McElvaney

J Immunol. 2019 Apr 15; 202(8): 2240–2253. Published online 2019 Feb 22. doi: 10.4049/jimmunol.1801045

PMCID:: PMC6452030

Abstract Article PDF–1.3M

Select item 643426016.

Successful application of next-generation sequencing for pre-natal diagnosis in a pedigree with chronic granulomatosis disease

Fang Peng, Lili Zhong, Bing Zhang, Runying Zou, Shengdan Nie, Xin Tian, Shaoyang Deng, Xiangling He

Exp Ther Med. 2019 Apr; 17(4): 2931–2936. Published online 2019 Feb 26. doi: 10.3892/etm.2019.7318

PMCID:: PMC6434260

Abstract Article PDF–1.1M

Select item 635300517.

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 627609018.

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 622157019.

Ataluren, a New Therapeutic for Alpha-1 Antitrypsin–Deficient Individuals with Nonsense Mutations

Emer P. Reeves, Ciara A. O’Dwyer, Danielle M. Dunlea, Mark R. Wormald, Padraig Hawkins, Mohammad Alfares, Darrell N. Kotton, Steven M. Rowe, Andrew A. Wilson, Noel G. McElvaney

Am J Respir Crit Care Med. 2018 Oct 15; 198(8): 1099–1102. Published online 2018 Oct 15. doi: 10.1164/rccm.201802-0338LE