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Items: 1 to 20 of 118

1.
A DNAH17 missense variant causes flagella destabilization and asthenozoospermia
Beibei Zhang, Hui Ma, Teka Khan, Ao Ma, Tao Li, Huan Zhang, Jianing Gao, Jianteng Zhou, Yang Li, Changping Yu, Jianqiang Bao, Asim Ali, Ghulam Murtaza, Hao Yin, Qian Gao, Xiaohua Jiang, Feng Zhang, Chunyu Liu, Ihsan Khan, Muhammad Zubair, Hafiz Muhammad Jafar Hussain, Ranjha Khan, Ayesha Yousaf, Limin Yuan, Yan Lu, Xiaoling Xu, Yun Wang, Qizhao Tao, Qiaomei Hao, Hui Fang, Hongtao Cheng, Yuanwei Zhang, Qinghua Shi
J Exp Med. 2020 Feb 3; 217(2): e20182365. Published online 2019 Oct 28. doi: 10.1084/jem.20182365
PMCID:
PMC7041708
AbstractArticlePDF–9.2M
2.
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
3.
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
AbstractArticlePDF–1.8M
4.
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
AbstractArticlePDF–3.7M
5.
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
AbstractArticlePDF–2.9M
6.
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
AbstractArticlePDF–5.1M
7.
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
AbstractArticlePDF–796K
8.
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
AbstractArticlePDF–1.1M
9.
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
10.
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
AbstractArticlePDF–2.1M
11.
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia
Marjorie Whitfield, Lucie Thomas, Emilie Bequignon, Alain Schmitt, Laurence Stouvenel, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Bruno Copin, Sandra Chantot, Florence Dastot, Catherine Faucon, Anne Laure Barbotin, Anne Loyens, Jean-Pierre Siffroi, Jean-François Papon, Estelle Escudier, Serge Amselem, Valérie Mitchell, Aminata Touré, Marie Legendre
Am J Hum Genet. 2019 Jul 3; 105(1): 198–212. Published online 2019 Jun 6. doi: 10.1016/j.ajhg.2019.04.015
PMCID:
PMC6612517
AbstractArticlePDF–3.2M
12.
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
AbstractArticlePDF–2.1M
13.
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
AbstractArticlePDF–7.6M
14.
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
AbstractArticlePDF–912K
15.
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
AbstractArticlePDF–1.4M
16.
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
AbstractArticlePDF–2.7M
17.
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
AbstractArticlePDF–3.7M
18.
Increased expression levels of Syntaxin 1A and Synaptobrevin 2/Vesicle-Associated Membrane Protein-2 are associated with the progression of bladder cancer
Sadaf Azad Raja, Seher Abbas, Syed Tahir Abbas Shah, Aamira Tariq, Nazia Bibi, Arzu Yousuf, Athar Khawaja, Muhammad Nawaz, Arshad Mehmood, Muhammad Jadoon Khan, Alamdar Hussain
Genet Mol Biol. 2019 Jan-Mar; 42(1): 40–47. Published online 2019 Jan 21. doi: 10.1590/1678-4685-GMB-2017-0339
PMCID:
PMC6428126
AbstractArticlePDF–1.4M
19.
Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer
Vahinipriya Manoharan, Eric Hamilton Karunanayake, Kamani Hemamala Tennekoon, Sumadee De Silva, Kanishka De Silva, Preethika Angunawela, John Lunec
Mol Med Rep. 2019 Apr; 19(4): 2781–2791. Published online 2019 Feb 11. doi: 10.3892/mmr.2019.9948
PMCID:
PMC6423636
AbstractArticlePDF–1.7M
20.
Investigating of variations in BRCA1 gene in Iranian families with breast cancer
Amir Mehrgou, Mansoureh Akouchekian, Simin Hemati
Med J Islam Repub Iran. 2018; 32: 87. Published online 2018 Sep 17. doi: 10.14196/mjiri.32.87
PMCID:
PMC6376998
AbstractArticlePDF–1.0M

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