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Select item 70580011.

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

Ewelina Bukowska-Olech, Delfina Popiel, Grzegorz Koczyk, Anna Sowińska-Seidler, Magdalena Socha, Bartosz Wojciechowicz, Adam Dawidziuk, Dawid Larysz, Aleksander Jamsheer

Sci Rep. 2020; 10: 4159. Published online 2020 Mar 5. doi: 10.1038/s41598-020-61048-5

PMCID:: PMC7058001

Abstract Article PDF–1.5M

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 69905243.

Pattern of nucleotide variants of TP53 and their correlation with the expression of p53 and its downstream proteins in a Sri Lankan cohort of breast and colorectal cancer patients

Vahinipriya Manoharan, Eric Hamilton Karunanayake, Kamani Hemamala Tennekoon, Sumadee De Silva, Ahamed Ilyas Ahamed Imthikab, Kanishka De Silva, Preethika Angunawela, Sameera Vishwakula, John Lunec

BMC Cancer. 2020; 20: 72. Published online 2020 Jan 30. doi: 10.1186/s12885-020-6573-5

PMCID:: PMC6990524

Abstract Article PDF–1.8M

Select item 69394014.

IRF1 Negatively Regulates Oncogenic KPNA2 Expression Under Growth Stimulation and Hypoxia in Lung Cancer Cells

Jie-Xin Huang, Yi-Cheng Wu, Ya-Yun Cheng, Chih-Liang Wang, Chia-Jung Yu

Onco Targets Ther. 2019; 12: 11475–11486. Published online 2019 Dec 27. doi: 10.2147/OTT.S221832

PMCID:: PMC6939401

Abstract Article PDF–3.7M

Select item 68383905.

Accumulation of mitochondrial 7S DNA in idiopathic and LRRK2 associated Parkinson's disease

Petar Podlesniy, Margalida Puigròs, Núria Serra, Rubén Fernández-Santiago, Mario Ezquerra, Eduardo Tolosa, Ramon Trullas

EBioMedicine. 2019 Oct; 48: 554–567. Published online 2019 Oct 17. doi: 10.1016/j.ebiom.2019.09.015

PMCID:: PMC6838390

Abstract Article PDF–2.9M

Select item 68363296.

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling

Cong Ma, Lv Liu, Fang-Na Wang, Hai-Shen Tian, Yan Luo, Rong Yu, Liang-Liang Fan, Ya-Li Li

BMC Med Genet. 2019; 20: 169. Published online 2019 Nov 6. doi: 10.1186/s12881-019-0917-5

PMCID:: PMC6836329

Abstract Article PDF–5.0M

Select item 68321107.

Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta

Lulu Li, Yixuan Cao, Feiyue Zhao, Bin Mao, Xiuzhi Ren, Yanzhou Wang, Yun Guan, Yi You, Shan Li, Tao Yang, Xiuli Zhao

Front Genet. 2019; 10: 979. Published online 2019 Oct 18. doi: 10.3389/fgene.2019.00979

PMCID:: PMC6832110

Abstract Article PDF–5.1M

Select item 67551728.

Synergistic effect of STAT3-targeted small interfering RNA and AZD0530 against glioblastoma in vitro and in vivo

Qingjun Liu, Leibo Wang, David Li, Jingxia Zhao, Shen Chen, Jialin Li

Mol Med Rep. 2019 Oct; 20(4): 3625–3632. Published online 2019 Aug 21. doi: 10.3892/mmr.2019.10596

PMCID:: PMC6755172

Abstract Article PDF–796K

Select item 67323209.

Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1

Linlin Chen, Feng Xue, Jia Xu, Jinwei He, Wenzhen Fu, Zhenlin Zhang, Qinglin Kang

Mol Genet Genomic Med. 2019 Sep; 7(9): e904. Published online 2019 Jul 25. doi: 10.1002/mgg3.904

PMCID:: PMC6732320

Abstract Article PDF–1.1M

Select item 672739110.

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

Select item 667984211.

A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

Nathan R. Lindquist, Eric N. Appelbaum, Anushree Acharya, Jeffrey T. Vrabec, Suzanne M. Leal, Isabelle Schrauwen

Case Rep Genet. 2019; 2019: 2836263. Published online 2019 Jul 22. doi: 10.1155/2019/2836263

PMCID:: PMC6679842

Abstract Article PDF–1.5M

Select item 667012412.

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family

Yanwei Sha, Ding Ma, Ning Zhang, Xiaoli Wei, Wensheng Liu, Xiong Wang

BMC Med Genet. 2019; 20: 133. Published online 2019 Aug 1. doi: 10.1186/s12881-019-0864-1

PMCID:: PMC6670124

Abstract Article PDF–6.7M

Select item 662503013.

TFAP2C increases cell proliferation by downregulating GADD45B and PMAIP1 in non-small cell lung cancer cells

Hyunhee Do, Dain Kim, JiHoon Kang, Beomseok Son, Danbi Seo, HyeSook Youn, BuHyun Youn, Wanyeon Kim

Biol Res. 2019; 52: 35. Published online 2019 Jul 11. doi: 10.1186/s40659-019-0244-5

PMCID:: PMC6625030

Abstract Article PDF–2.1M

Select item 659184314.

Long non-coding RNA HOXB-AS3 promotes myeloid cell proliferation and its higher expression is an adverse prognostic marker in patients with acute myeloid leukemia and myelodysplastic syndrome

Huai-Hsuan Huang, Fei-Yun Chen, Wen-Chien Chou, Hsin-An Hou, Bor-Sheng Ko, Chien-Ting Lin, Jih-Luh Tang, Chi-Cheng Li, Ming Yao, Woei Tsay, Szu-Chun Hsu, Shang-Ju Wu, Chien-Yuan Chen, Shang-Yi Huang, Mei-Hsuan Tseng, Hwei-Fang Tien, Ruey-Hwa Chen

BMC Cancer. 2019; 19: 617. Published online 2019 Jun 24. doi: 10.1186/s12885-019-5822-y

PMCID:: PMC6591843

Abstract Article PDF–2.1M

Select item 658792415.

Expression of STAT3-regulated genes in circulating CD4+ T cells discriminates rheumatoid arthritis independently of clinical parameters in early arthritis

Amy E Anderson, Nicola J Maney, Nisha Nair, Dennis W Lendrem, Andrew J Skelton, Julie Diboll, Philip M Brown, Graham R Smith, Ruaidhrí J Carmody, Anne Barton, John D Isaacs, Arthur G Pratt

Rheumatology (Oxford) 2019 Jul; 58(7): 1250–1258. Published online 2019 Feb 8. doi: 10.1093/rheumatology/kez003

PMCID:: PMC6587924

Abstract Article PDF–540K

Select item 657767516.

Identification of mammalian noggin and its expression in the adult nervous system

DM Valenzuela, AN Economides, E Rojas, TM Lamb, L Nunez, P Jones, NY Lp, R Espinosa, 3rd, CI Brannan, DJ Gilbert

J Neurosci. 1995 Sep 1; 15(9): 6077–6084. doi: 10.1523/JNEUROSCI.15-09-06077.1995

PMCID:: PMC6577675

Abstract PDF–2.2M

Select item 654121917.

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Giovanna Mantovani, Murat Bastepe, David Monk, Luisa de Sanctis, Susanne Thiele, Alessia Usardi, S. Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo De Filippo, Guillemette Devernois, Thomas Eggermann, Francesca M. Elli, Kathleen Freson, Aurora García Ramirez, Emily L. Germain-Lee, Lionel Groussin, Neveen Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter Kamenický, Nina Knight, Marie-Laure Kottler, Elvire Le Norcy, Beatriz Lecumberri, Michael A. Levine, Outi Mäkitie, Regina Martin, Gabriel Ángel Martos-Moreno, Masanori Minagawa, Philip Murray, Arrate Pereda, Robert Pignolo, Lars Rejnmark, Rebecca Rodado, Anya Rothenbuhler, Vrinda Saraff, Ashley H. Shoemaker, Eileen M. Shore, Caroline Silve, Serap Turan, Philip Woods, M. Carola Zillikens, Guiomar Perez de Nanclares, Agnès Linglart

Nat Rev Endocrinol. 2018; 14(8): 476–500. Published online 2018 Jun 29. doi: 10.1038/s41574-018-0042-0

PMCID:: PMC6541219

Abstract Article PDF–7.6M

Select item 652890118.

Emerging cellular functions of the lipid metabolizing enzyme 15‐Lipoxygenase‐1

Melis Çolakoğlu, Sinem Tunçer, Sreeparna Banerjee

Cell Prolif. 2018 Oct; 51(5): e12472. Published online 2018 Jul 30. doi: 10.1111/cpr.12472

PMCID:: PMC6528901

Abstract Article PDF–912K

Select item 649918219.

Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions

Jing Xiong, Wei Tu, Yifei Yan, Kai Xiao, Yanyi Yao, Shouxin Li, Liu Yang, Min Zhou, Yang Liu, Jin Hu, Feng Zhu

Front Genet. 2019; 10: 353. Published online 2019 Apr 18. doi: 10.3389/fgene.2019.00353

PMCID:: PMC6499182

Abstract Article PDF–1.2M

Select item 649847820.

Mitochondrial autoimmunity and MNRR1 in breast carcinogenesis

Siddhesh Aras, Marie-Claire Maroun, Yeohan Song, Sudeshna Bandyopadhyay, Azadeh Stark, Zeng-Quan Yang, Michael P. Long, Lawrence I. Grossman, Félix Fernández-Madrid

BMC Cancer. 2019; 19: 411. Published online 2019 May 2. doi: 10.1186/s12885-019-5575-7

PMCID:: PMC6498478

Abstract Article PDF–1.4M

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