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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 69784007.

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 69782358.

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 69185659.

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 691315510.

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 690094211.

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 688481012.

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 686259813.

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 683632014.

Association of high sensitive C-reactive protein with coronary heart disease: a Mendelian randomization study

Qian Zhuang, Chong Shen, Yanchun Chen, Xianghai Zhao, Pengfei Wei, Junxiang Sun, Yanni Ji, Xiaotian Chen, Song Yang

BMC Med Genet. 2019; 20: 170. Published online 2019 Nov 6. doi: 10.1186/s12881-019-0910-z

PMCID:: PMC6836320

Abstract Article PDF–554K

Select item 682864815.

Resveratrol Reverses Retinoic Acid Resistance of Anaplastic Thyroid Cancer Cells via Demethylating CRABP2 Gene

Xin Liu, Hong Li, Mo-Li Wu, Jiao Wu, Yuan Sun, Kai-Li Zhang, Jia Liu

Front Endocrinol (Lausanne) 2019; 10: 734. Published online 2019 Oct 29. doi: 10.3389/fendo.2019.00734

PMCID:: PMC6828648

Abstract Article PDF–1.1M

Select item 680671416.

Development of Unlabeled Probe Based High‐Resolution Melting Analysis for Detection of Filaggrin Gene Mutation c.3321delA

Wei‐Long Zhong, Luo Wang, Xia Wu, Jie Zhang, Xiao‐Fan Chen, Wei Zhang, Xia Dou, Bo Yu

J Clin Lab Anal. 2016 Nov; 30(6): 892–896. Published online 2016 Apr 3. doi: 10.1002/jcla.21953

PMCID:: PMC6806714

Abstract Article PDF–4.1M

Select item 678544717.

Seven novel mutations of ADAR in multi‐ethnic pedigrees with dyschromatosis symmetrica hereditaria in China

Peng Wang, Shirong Yu, Jianyong Liu, Dezhi Zhang, Xiaojing Kang

Mol Genet Genomic Med. 2019 Oct; 7(10): e00905. Published online 2019 Aug 18. doi: 10.1002/mgg3.905

PMCID:: PMC6785447

Abstract Article PDF–2.2M

Select item 678544018.

Guillain–Barre syndrome outbreak in Peru: Association with polymorphisms in IL‐17, ICAM1, and CD1

Luis Jaramillo‐Valverde, Kelly S. Levano, Isolina Villanueva, Meylin Hidalgo, Marco Cornejo, Pilar Mazzetti, Mario Cornejo‐Olivas, Cesar Sanchez, Julio A. Poterico, Julio Valdivia‐Silva, Heinner Guio

Mol Genet Genomic Med. 2019 Oct; 7(10): e00960. Published online 2019 Aug 28. doi: 10.1002/mgg3.960

PMCID:: PMC6785440

Abstract Article PDF–480K

Select item 674264619.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 672739120.

A cross-sectional study on factors associated with hypertension and genetic polymorphisms of renin-angiotensin-aldosterone system in Chinese hui pilgrims to hajj

Yinxia Zhang, Fangfang Shi, Zhanbiao Yu, Aimin Yang, Maolan Zeng, Jiaoyue Wang, Haiping Yin, Benzhong Zhang, Xiao Ma

BMC Public Health. 2019; 19: 1223. Published online 2019 Sep 4. doi: 10.1186/s12889-019-7357-1

PMCID:: PMC6727391

Abstract Article PDF–1.7M

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