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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 70571152.

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou

Mol Genet Genomic Med. 2020 Mar; 8(3): e1090. Published online 2020 Jan 14. doi: 10.1002/mgg3.1090

PMCID:: PMC7057115

Abstract Article PDF–622K

Select item 70365343.

Defining Blood Group Gene Reference Alleles by Long-Read Sequencing: Proof of Concept in the ACKR1 Gene Encoding the Duffy Antigens

Yann Fichou, Isabelle Berlivet, Gaëlle Richard, Christophe Tournamille, Lilian Castilho, Claude Férec

Transfus Med Hemother. 2020 Feb; 47(1): 23–32. Published online 2019 Dec 11. doi: 10.1159/000504584

PMCID:: PMC7036534

Abstract Article PDF–388K

Select item 70271954.

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 70237665.

miR-765 inhibits the osteogenic differentiation of human bone marrow mesenchymal stem cells by targeting BMP6 via regulating the BMP6/Smad1/5/9 signaling pathway

Tao Wang, Chao Zhang, Cihu Wu, Jianyun Liu, Hui Yu, Xiaoou Zhou, Jie Zhang, Xinping Wang, Shan He, Xiaoyuan Xu, Baicheng Ma, Xiangxin Che, Weidong Li

Stem Cell Res Ther. 2020; 11: 62. Published online 2020 Feb 14. doi: 10.1186/s13287-020-1579-0

PMCID:: PMC7023766

Abstract Article PDF–3.4M

Select item 70109736.

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Adam C. Gunning, Klaudia Strucinska, Mikel Muñoz Oreja, Andrew Parrish, Richard Caswell, Karen L. Stals, Romina Durigon, Karina Durlacher-Betzer, Mitchell H. Cunningham, Christopher M. Grochowski, Julia Baptista, Carolyn Tysoe, Emma Baple, Nayana Lahiri, Tessa Homfray, Ingrid Scurr, Catherine Armstrong, John Dean, Uxoa Fernandez Pelayo, Aleck W.E. Jones, Robert W. Taylor, Vinod K. Misra, Wan Hee Yoon, Caroline F. Wright, James R. Lupski, Antonella Spinazzola, Tamar Harel, Ian J. Holt, Sian Ellard

Am J Hum Genet. 2020 Feb 6; 106(2): 272–279. Published online 2020 Jan 30. doi: 10.1016/j.ajhg.2020.01.007

PMCID:: PMC7010973

Abstract Article PDF–1.3M

Select item 69865597.

Discovery and Structure-Based Optimization of Potent and Selective WDR5 Inhibitors Containing a Dihydroisoquinolinone Bicyclic Core

Jianhua Tian, Kevin B. Teuscher, Erin R. Aho, Joseph R. Alvarado, Jonathan J. Mills, Kenneth M. Meyers, Rocco D. Gogliotti, Changho Han, Jonathan D. Macdonald, Jiqing Sai, J. Grace Shaw, John L. Sensintaffar, Bin Zhao, Tyson A. Rietz, Lance R. Thomas, William G. Payne, William J. Moore, Gordon M. Stott, Jumpei Kondo, Masahiro Inoue, Robert J. Coffey, William P. Tansey, Shaun R. Stauffer, Taekyu Lee, Stephen W. Fesik

J Med Chem. Author manuscript; available in PMC 2020 Jan 28.

Published in final edited form as: J Med Chem. 2020 Jan 23; 63(2): 656–675. Published online 2020 Jan 7. doi: 10.1021/acs.jmedchem.9b01608

PMCID:: PMC6986559

Abstract Article PDF–2.1M

Select item 69784008.

DDAH1 promoter ‐396 4N insertion variant is associated with increased risk of type 2 diabetes in a gender‐dependent manner

Fasheng Zhu, Chi Zhou, Zheng Wen, Dao Wen Wang

Mol Genet Genomic Med. 2020 Jan; 8(1): e1011. Published online 2019 Nov 16. doi: 10.1002/mgg3.1011

PMCID:: PMC6978400

Abstract Article PDF–534K

Select item 69782359.

The SNP rs4846048 of MTHFR enhances the cervical cancer risk through association with miR‐522: A preliminary report

Xinyue Zhou, Lili Shan, Jing Na, Ya Li, Jun Wang

Mol Genet Genomic Med. 2020 Jan; 8(1): e1055. Published online 2019 Nov 21. doi: 10.1002/mgg3.1055

PMCID:: PMC6978235

Abstract Article PDF–650K

Select item 691856510.

Case reports of a c.475G>T, p.E159* lamin A/C mutation with a family history of conduction disorder, dilated cardiomyopathy and sudden cardiac death

Tetsuro Yokokawa, Shohei Ichimura, Naoko Hijioka, Takashi Kaneshiro, Akiomi Yoshihisa, Hiroyuki Kunii, Kazuhiko Nakazato, Takafumi Ishida, Osamu Suzuki, Seiko Ohno, Takeshi Aiba, Hiroshi Ohtani, Yasuchika Takeishi

BMC Cardiovasc Disord. 2019; 19: 298. Published online 2019 Dec 17. doi: 10.1186/s12872-019-01282-6

PMCID:: PMC6918565

Abstract Article PDF–1.6M

Select item 691315511.

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes

Seth A. Brodie, Jean Paul Rodriguez-Aulet, Neelam Giri, Jieqiong Dai, Mia Steinberg, Joshua P. Waterfall, David Roberson, Bari J. Ballew, Weiyin Zhou, Sarah L. Anzick, Yuan Jiang, Yonghong Wang, Yuelin J. Zhu, Paul S. Meltzer, Joseph Boland, Blanche P. Alter, Sharon A. Savage

Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004564. doi: 10.1101/mcs.a004564

Correction in:: Cold Spring Harb Mol Case Stud. 2020 Feb; 6(1): a005116.

PMCID:: PMC6913155

Abstract Article PDF–3.3M

Select item 690094212.

Association Study between BGLAP Gene HindIII Polymorphism and Type 2 Diabetes Mellitus Development in Ukrainian Population

Yaroslav D. Chumachenko, Viktoriia Yu. Harbuzova, Alexander V. Ataman

J Diabetes Res. 2019; 2019: 9302636. Published online 2019 Nov 27. doi: 10.1155/2019/9302636

PMCID:: PMC6900942

Abstract Article PDF–439K

Select item 688481013.

Dengue fever and chikungunya virus infections: identification in travelers in Uganda – 2017

John T. Kayiwa, Annet M. Nankya, Irene Ataliba, Charity A. Nassuna, Isaac E. Omara, Jeffrey W. Koehler, John M. Dye, Eric C. Mossel, Julius J. Lutwama

Trop Dis Travel Med Vaccines. 2019; 5: 21. Published online 2019 Nov 29. doi: 10.1186/s40794-019-0099-3

PMCID:: PMC6884810

Abstract Article PDF–419K

Select item 686259814.

Expression of A New Endogenous Retrovirus-Associated Transcript in Hodgkin Lymphoma Cells

Jana Schneider, Ines Volkmer, Kristina Engel, Alexander Emmer, Martin S. Staege

Int J Mol Sci. 2019 Nov; 20(21): 5320. Published online 2019 Oct 25. doi: 10.3390/ijms20215320

PMCID:: PMC6862598

Abstract Article PDF–1017K

Select item 684230515.

Discovery of Potent 2-Aryl-6,7-Dihydro-5H-Pyrrolo[1,2-a]imidazoles as WDR5 WIN-site Inhibitors Using Fragment-Based Methods and Structure-Based Design

Feng Wang, Kyu Ok Jeon, James M. Salovich, Jonathan D. Macdonald, Joseph Alvarado, Rocco D. Gogliotti, Jason Phan, Edward T. Olejniczak, Qi Sun, Shidong Wang, DeMarco Camper, Joannes P. Yuh, J. Grace Shaw, Jiqing Sai, Olivia W. Rossanese, William P. Tansey, Shaun R. Stauffer, Stephen W. Fesik

J Med Chem. Author manuscript; available in PMC 2019 Nov 9.

Published in final edited form as: J Med Chem. 2018 Jul 12; 61(13): 5623–5642. Published online 2018 Jun 29. doi: 10.1021/acs.jmedchem.8b00375