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Items: 1 to 20 of 135

1.
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
AbstractArticlePDF–2.4M
2.
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
AbstractArticlePDF–622K
3.
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
AbstractArticlePDF–388K
4.
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
AbstractArticlePDF–1.2M
5.
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
AbstractArticlePDF–3.4M
6.
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
AbstractArticlePDF–1.3M
7.
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
AbstractArticlePDF–534K
8.
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
AbstractArticlePDF–650K
9.
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
Yun Rose Li, Joseph T. Glessner, Bradley P. Coe, Jin Li, Maede Mohebnasab, Xiao Chang, John Connolly, Charlly Kao, Zhi Wei, Jonathan Bradfield, Cecilia Kim, Cuiping Hou, Munir Khan, Frank Mentch, Haijun Qiu, Marina Bakay, Christopher Cardinale, Maria Lemma, Debra Abrams, Andrew Bridglall-Jhingoor, Meckenzie Behr, Shanell Harrison, George Otieno, Alexandria Thomas, Fengxiang Wang, Rosetta Chiavacci, Lawrence Wu, Dexter Hadley, Elizabeth Goldmuntz, Josephine Elia, John Maris, Robert Grundmeier, Marcella Devoto, Brendan Keating, Michael March, Renata Pellagrino, Struan F. A. Grant, Patrick M. A. Sleiman, Mingyao Li, Evan E. Eichler, Hakon Hakonarson
Nat Commun. 2020; 11: 255. Published online 2020 Jan 14. doi: 10.1038/s41467-019-13624-1
PMCID:
PMC6959272
AbstractArticlePDF–2.9M
10.
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
AbstractArticlePDF–1.6M
11.
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
AbstractArticlePDF–3.3M
12.
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
AbstractArticlePDF–439K
13.
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
AbstractArticlePDF–419K
14.
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
AbstractArticlePDF–1017K
15.
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
AbstractArticlePDF–554K
16.
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
AbstractArticlePDF–1.1M
17.
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
AbstractArticlePDF–4.1M
18.
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
AbstractArticlePDF–2.2M
19.
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
AbstractArticlePDF–480K
20.
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
AbstractArticlePDF–1.7M

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