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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 68034987.

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 66876658.

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 66279839.

The Multifunctional Sorting Protein PACS-2 Controls Mitophagosome Formation in Human Vascular Smooth Muscle Cells through Mitochondria-ER Contact Sites

Manon Moulis, Elisa Grousset, Julien Faccini, Kevin Richetin, Gary Thomas, Cecile Vindis

Cells. 2019 Jun; 8(6): 638. Published online 2019 Jun 25. doi: 10.3390/cells8060638

PMCID:: PMC6627983

Abstract Article PDF–7.7M

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 635300511.

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 630950012.

An insulin responsive sensor in the SIRT1 disordered region binds DBC1 and PACS-2 to control enzyme activity

Troy C. Krzysiak, Laurel Thomas, You-Jin Choi, Sylvain Auclair, Yiqi Qian, Shan Luan, Stephanie M. Krasnow, Laura L. Thomas, Leonardus M.I. Koharudin, Panayiotis V. Benos, Daniel L. Marks, Angela M. Gronenborn, Gary Thomas

Mol Cell. Author manuscript; available in PMC 2019 Dec 20.

Published in final edited form as: Mol Cell. 2018 Dec 20; 72(6): 985–998.e7. Published online 2018 Nov 8. doi: 10.1016/j.molcel.2018.10.007

PMCID:: PMC6309500

Abstract Article PDF–1.1M

Select item 627609013.

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 605132614.

Mutational Analysis of Oncogenic AKT1 Gene Associated with Breast Cancer Risk in the High Altitude Ecuadorian Mestizo Population

Andrés López-Cortés, Paola E. Leone, Byron Freire-Paspuel, Nathaly Arcos-Villacís, Patricia Guevara-Ramírez, Felipe Rosales, César Paz-y-Miño

Biomed Res Int. 2018; 2018: 7463832. Published online 2018 Jul 3. doi: 10.1155/2018/7463832

PMCID:: PMC6051326

Abstract Article PDF–837K

Select item 601597915.

Genetic Variants Associated with Clinicopathological Profiles in Sporadic Breast Cancer in Sri Lankan Women

Nirmala Dushyanthi Sirisena, Adebowale Adeyemo, Anchala Ishani Kuruppu, Nilakshi Samaranayake, Vajira Harshadeva Weerabaddana Dissanayake

J Breast Cancer. 2018 Jun; 21(2): 165–172. Published online 2018 Jun 20. doi: 10.4048/jbc.2018.21.2.165

PMCID:: PMC6015979

Abstract Article PDF–264K

Select item 599639716.

Evaluating droplet digital PCR for the quantification of human genomic DNA: converting copies per nanoliter to nanograms nuclear DNA per microliter

David L. Duewer, Margaret C. Kline, Erica L. Romsos, Blaza Toman

Anal Bioanal Chem. Author manuscript; available in PMC 2019 May 1.

Published in final edited form as: Anal Bioanal Chem. 2018 May; 410(12): 2879–2887. Published online 2018 Mar 19. doi: 10.1007/s00216-018-0982-1

PMCID:: PMC5996397

Abstract Article PDF–490K

Select item 598669417.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Heather E. Olson, Nolwenn Jean-Marçais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Paul A. van der Zwaag, Emilia K. Bijlsma, Bryan L. Krock, E. Backer, Erik-Jan Kamsteeg, Margje Sinnema, Margot R.F. Reijnders, David Bearden, Amber Begtrup, Aida Telegrafi, Roelineke J. Lunsing, Lydie Burglen, Gaetan Lesca, Megan T. Cho, Lacey A. Smith, Beth R. Sheidley, Christelle Moufawad El Achkar, Phillip L. Pearl, Annapurna Poduri, Cara M. Skraban, Jennifer Tarpinian, Addie I. Nesbitt, Dietje E. Fransen van de Putte, Claudia A.L. Ruivenkamp, Patrick Rump, Nicolas Chatron, Isabelle Sabatier, Julitta De Bellescize, Laurent Guibaud, David A. Sweetser, Jessica L. Waxler, Klaas J. Wierenga, DDD Study, Jean Donadieu, Vinodh Narayanan, Keri M. Ramsey, C4RCD Research Group, Caroline Nava, Jean-Baptiste Rivière, Antonio Vitobello, Frédéric Tran Mau-Them, Christophe Philippe, Ange-Line Bruel, Yannis Duffourd, Laurel Thomas, Stefan H. Lelieveld, Janneke Schuurs-Hoeijmakers, Han G. Brunner, Boris Keren, Julien Thevenon, Laurence Faivre, Gary Thomas, Christel Thauvin-Robinet

Am J Hum Genet. 2018 May 3; 102(5): 995–1007. Published online 2018 Apr 12. doi: 10.1016/j.ajhg.2018.03.005

Correction in:: Am J Hum Genet. 2018 Oct 4; 103(4): 631.

PMCID:: PMC5986694

Abstract Article PDF–1.2M

Select item 590540218.

Glycosylation of Human IgA Directly Inhibits Influenza A and Other Sialic-Acid-Binding Viruses

Michael A. Maurer, Larissa Meyer, Matteo Bianchi, Hannah L. Turner, Ngoc P.L. Le, Marco Steck, Arkadiusz Wyrzucki, Vanessa Orlowski, Andrew B. Ward, Max Crispin, Lars Hangartner

Cell Rep. 2018 Apr 3; 23(1): 90–99. Published online 2018 Apr 5. doi: 10.1016/j.celrep.2018.03.027

PMCID:: PMC5905402

Abstract Article PDF–1.8M

Select item 589975419.

The antibody loci of the domestic goat (Capra hircus)

John C. Schwartz, Rebecca L. Philp, Derek M. Bickhart, Timothy P. L. Smith, John A. Hammond

Immunogenetics. 2018; 70(5): 317–326. Published online 2017 Oct 23. doi: 10.1007/s00251-017-1033-3

PMCID:: PMC5899754

Abstract Article PDF–1.3M

Select item 587764720.

Genetic Determinants of Antibody Levels in Cerebrospinal Fluid in Multiple Sclerosis: Possible Links to Endogenous Retroviruses

Alexander Emmer, Christine Brütting, Malte Kornhuber, Martin S. Staege

Int J Mol Sci. 2018 Mar; 19(3): 786. Published online 2018 Mar 9. doi: 10.3390/ijms19030786

PMCID:: PMC5877647

Abstract Article PDF–2.3M

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