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Items: 1 to 20 of 140

1.
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
ArticlePDF–1.2M
2.
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
ArticlePDF–1.8M
3.
A novel compound heterozygous GAA mutation in a Chinese family with juvenile onset form of Pompe disease with cardiomyopathy
Lingling Xu, Lidan Zhang, Liangying Zhong, Xueqiong Huang, Suping Li, Yucai Cheng, Yujian Liang, Yuxin Pei, Huimin Huang, Wen Tang, Cheng Zhang
Int J Clin Exp Pathol. 2017; 10(12): 11995–12002. Published online 2017 Dec 1.
PMCID:
PMC6966062
ArticlePDF–695K
4.
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Jr, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo
Orphanet J Rare Dis. 2020; 15: 11. Published online 2020 Jan 13. doi: 10.1186/s13023-019-1291-2
PMCID:
PMC6958675
ArticlePDF–739K
5.
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
ArticlePDF–3.7M
6.
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry
Arnold J. J. Reuser, Ans T. van der Ploeg, Yin‐Hsiu Chien, Juan Llerena, Jr., Mary‐Alice Abbott, Paula R. Clemens, Virginia E. Kimonis, Nancy Leslie, Sonia S. Maruti, Bernd‐Jan Sanson, Roberto Araujo, Magali Periquet, Antonio Toscano, Priya S. Kishnani, on behalf of the Pompe Registry Sites
Hum Mutat. 2019 Nov; 40(11): 2146–2164. Published online 2019 Aug 7. doi: 10.1002/humu.23878
PMCID:
PMC6852536
ArticlePDF–1.6M
7.
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
ArticlePDF–2.9M
8.
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
ArticlePDF–5.1M
9.
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
ArticlePDF–796K
10.
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti
BMC Med Genet. 2019; 20: 156. Published online 2019 Sep 11. doi: 10.1186/s12881-019-0878-8
PMCID:
PMC6737665
ArticlePDF–1.1M
11.
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
ArticlePDF–1.1M
12.
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
ArticlePDF–1.7M
13.
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani
Genet Mol Biol. 2019; 42(1 Suppl 1): 197–206. Published online 2019 Apr 11. doi: 10.1590/1678-4685-GMB-2018-0092
PMCID:
PMC6687342
ArticlePDF–1.0M
14.
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
ArticlePDF–2.1M
15.
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
ArticlePDF–2.1M
16.
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
ArticlePDF–7.6M
17.
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
ArticlePDF–912K
18.
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
ArticlePDF–1.4M
19.
Inhibition of cell proliferation, migration and invasion by a glioma‐targeted fusion protein combining the p53 C terminus and MDM2‐binding domain
Jiawen Yu, Meihua Guo, Ting Wang, Xiang Li, Dan Wang, Xinying Wang, Qian Zhang, Liang Wang, Yang Zhang, Chunhui Zhao, Bin Feng
Cell Prolif. 2016 Feb; 49(1): 79–89. Published online 2016 Feb 3. doi: 10.1111/cpr.12238
PMCID:
PMC6496415
ArticlePDF–2.7M
20.
Experimental and pan-cancer genome analyses reveal widespread contribution of acrylamide exposure to carcinogenesis in humans
Maria Zhivagui, Alvin W.T. Ng, Maude Ardin, Mona I. Churchwell, Manuraj Pandey, Claire Renard, Stephanie Villar, Vincent Cahais, Alexis Robitaille, Liacine Bouaoun, Adriana Heguy, Kathryn Z. Guyton, Martha R. Stampfer, James McKay, Monica Hollstein, Magali Olivier, Steven G. Rozen, Frederick A. Beland, Michael Korenjak, Jiri Zavadil
Genome Res. 2019 Apr; 29(4): 521–531. doi: 10.1101/gr.242453.118
PMCID:
PMC6442384
ArticlePDF–3.7M

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