Full text in PMC (nucleotide) for Gene (Select 5395) - PMC

Tahir Zaib, Chunhui Zhang, Komal Saleem, Lidan Xu, Qian Qin, Yusi Wang, Wei Ji, Hanif Khan, Hanfei Yu, Siqi Zhu, Wei Gao, Yun Huang, Xueyuan Jia, Jie Wu, Hongtao Song, Yanqiao Zhang, Wenjing Sun, Songbin Fu

Dis Markers. 2020; 2020: 8360841. Published online 2020 Jan 29. doi: 10.1155/2020/8360841

Retraction in:: Dis Markers. 2023; 2023: 9784325.

PMCID:: PMC7008259

Abstract Article

Select item 69987464.

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing

Sun Hee Rosenthal, Weimin Sun, Ke Zhang, Yan Liu, Quoclinh Nguyen, Anna Gerasimova, Camille Nery, Linda Cheng, Carolyn Castonguay, Elaine Hiller, James Li, Christopher Elzinga, David Wolfson, Alla Smolgovsky, Rebecca Chen, Arlene Buller-Burckle, Joseph Catanese, Andrew Grupe, Felicitas Lacbawan, Renius Owen

Biomed Res Int. 2020; 2020: 3289023. Published online 2020 Jan 22. doi: 10.1155/2020/3289023

PMCID:: PMC6998746

Abstract Article PDF–443K

Select item 69784025.

LncRNA DLX6‐AS1 increases the expression of HIF‐1α and promotes the malignant phenotypes of nasopharyngeal carcinoma cells via targeting MiR‐199a‐5p

Bin Yang, Lin Jia, Hui Ren, Caibao Jin, Qingrong Ren, Haiyuan Zhang, Desheng Hu, Hao Zhang, Liu Hu, Tao Xie

Mol Genet Genomic Med. 2020 Jan; 8(1): e1017. Published online 2019 Nov 29. doi: 10.1002/mgg3.1017

PMCID:: PMC6978402

Abstract Article PDF–1.2M

Select item 69782396.

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next‐generation sequencing

Juan C. Zenteno, Leopoldo A. García‐Montaño, Marisa Cruz‐Aguilar, Josué Ronquillo, Agustín Rodas‐Serrano, Luis Aguilar‐Castul, Rodrigo Matsui, Carlos I. Vencedor‐Meraz, Rocío Arce‐González, Federico Graue‐Wiechers, Mario Gutiérrez‐Paz, Tatiana Urrea‐Victoria, Ulises de Dios Cuadras, Oscar F. Chacón‐Camacho

Mol Genet Genomic Med. 2020 Jan; 8(1): 10.1002/mgg3.1044. Published online 2019 Nov 17. doi: 10.1002/mgg3.1044

PMCID:: PMC6978239

Abstract Article PDF–1.3M

Select item 69777517.

Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene

Mirza Jawad Ul Hasnain, Muhammad Shoaib, Salman Qadri, Bakhtawar Afzal, Tehreem Anwar, Syed Hassan Abbas, Amina Sarwar, Hafiz Muhammad Talha Malik, Muhammad Tariq Pervez

PLoS One. 2020; 15(1): e0225368. Published online 2020 Jan 23. doi: 10.1371/journal.pone.0225368

PMCID:: PMC6977751

Abstract Article PDF–2.4M

Select item 69433548.

Compensatory upregulation of aldo-keto reductase 1B10 to protect hepatocytes against oxidative stress during hepatocarcinogenesis

Yongzhen Liu, Jing Zhang, Hui Liu, Guiwen Guan, Ting Zhang, Leijie Wang, Xuewei Qi, Huiling Zheng, Chia-Chen Chen, Jia Liu, Deliang Cao, Fengmin Lu, Xiangmei Chen

Am J Cancer Res. 2019; 9(12): 2730–2748. Published online 2019 Dec 1.

PMCID:: PMC6943354

Abstract Article PDF–6.9M

Select item 69400489.

PMS2 germline mutation c.1577delA (p.Asp526Alafs^∗69)-induced Lynch syndrome-associated endometrial cancer: A case report

Man-Hua Cui, Xi-Wen Zhang, Tong Yu, Dong-Wei Huang, Yan Jia

Medicine (Baltimore) 2019 Dec; 98(51): e18279. Published online 2019 Dec 20. doi: 10.1097/MD.0000000000018279

PMCID:: PMC6940048

Abstract Article PDF–2.0M

Select item 690018210.

Long non‐coding RNAs influence the transcriptome in pulmonary arterial hypertension: the role of PAXIP1‐AS1

Katharina Jandl, Helene Thekkekara Puthenparampil, Leigh M Marsh, Julia Hoffmann, Jochen Wilhelm, Christine Veith, Katharina Sinn, Walter Klepetko, Horst Olschewski, Andrea Olschewski, Matthias Brock, Grazyna Kwapiszewska

J Pathol. 2019 Mar; 247(3): 357–370. Published online 2019 Jan 16. doi: 10.1002/path.5195

PMCID:: PMC6900182

Abstract Article PDF–4.5M

Select item 688362711.

Validation of an epigenetic field of susceptibility to detect significant prostate cancer from non-tumor biopsies

Bing Yang, Tyler Etheridge, Johnathon McCormick, Adam Schultz, Tariq A. Khemees, Nathan Damaschke, Glen Leverson, Kaitlin Woo, Geoffrey A. Sonn, Eric A. Klein, Mike Fumo, Wei Huang, David F. Jarrard

Clin Epigenetics. 2019; 11: 168. Published online 2019 Nov 28. doi: 10.1186/s13148-019-0771-5

PMCID:: PMC6883627

Abstract Article PDF–807K

Select item 688282712.

Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients

Kentaro Sugino, Ryo Tamura, Hirofumi Nakaoka, Nozomi Yachida, Manako Yamaguchi, Yutaro Mori, Kaoru Yamawaki, Kazuaki Suda, Tatsuya Ishiguro, Sosuke Adachi, Masanori Isobe, Masayuki Yamaguchi, Katsunori Kashima, Teiichi Motoyama, Ituro Inoue, Kosuke Yoshihara, Takayuki Enomoto

Sci Rep. 2019; 9: 17808. Published online 2019 Nov 28. doi: 10.1038/s41598-019-54116-y

PMCID:: PMC6882827

Abstract Article PDF–1.5M

Select item 684249713.

A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report

Qianqian Zou, Zhigang Tian, Jie Zheng, Xiufang Zhi, Xiaojie Du, Jianbo Shu, Chunquan Cai

BMC Med Genet. 2019; 20: 174. Published online 2019 Nov 9. doi: 10.1186/s12881-019-0889-5

PMCID:: PMC6842497

Abstract Article PDF–1.0M

Select item 683211014.

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 679189215.

Endogenous intronic antisense long non-coding RNA, MGAT3-AS1, and kidney transplantation

Subagini Nagarajah, Shengqiang Xia, Marianne Rasmussen, Martin Tepel

Sci Rep. 2019; 9: 14743. Published online 2019 Oct 14. doi: 10.1038/s41598-019-51409-0

PMCID:: PMC6791892

Abstract Article PDF–1.1M

Select item 675619116.

HPV DNA Associates With Breast Cancer Malignancy and It Is Transferred to Breast Cancer Stromal Cells by Extracellular Vesicles

Sabrina De Carolis, Gianluca Storci, Claudio Ceccarelli, Claudia Savini, Lara Gallucci, Pasquale Sansone, Donatella Santini, Renato Seracchioli, Mario Taffurelli, Francesco Fabbri, Fabrizio Romani, Gaetano Compagnone, Cristina Giuliani, Paolo Garagnani, Massimiliano Bonafè, Monica Cricca

Front Oncol. 2019; 9: 860. Published online 2019 Sep 16. doi: 10.3389/fonc.2019.00860

PMCID:: PMC6756191

Abstract Article PDF–2.7M

Select item 675132817.

Purification and Identification of miRNA Target Sites in Genome Using DNA Affinity Precipitation

Yu Xun, Yingxin Tang, Linmin Hu, Hui Xiao, Shengwen Long, Mengting Gong, Chenxi Wei, Ke Wei, Shuanglin Xiang

Front Genet. 2019; 10: 778. Published online 2019 Sep 12. doi: 10.3389/fgene.2019.00778

Correction in:: Front Genet. 2020; 11: 909.

PMCID:: PMC6751328

Abstract Article PDF–3.0M

Select item 674264618.

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 673228219.

Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family

Evelina Siavrienė, Violeta Mikštienė, Darius Radzevičius, Živilė Maldžienė, Tautvydas Rančelis, Gunda Petraitytė, Giedrė Tamulytė, Ingrida Kavaliauskienė, Laurynas Šarkinas, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė

Mol Genet Genomic Med. 2019 Sep; 7(9): e878. Published online 2019 Jul 20. doi: 10.1002/mgg3.878

PMCID:: PMC6732282

Abstract Article PDF–632K

Select item 671201820.

CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan

Chun-Wei Chang, Peng-Wei Hsu, Kuo-Chen Wei, Chia-Wen Chang, Hon-Chung Fung, Mo-Song Hsih, Wen-Chuin Hsu, Long-Sun Ro, Chen-Nen Chang, Jiun-Jie Wang, Yih-Ru Wu, Sien-Tsong Chen

Sci Rep. 2019; 9: 12387. Published online 2019 Aug 27. doi: 10.1038/s41598-019-48448-y

PMCID:: PMC6712018

Abstract Article PDF–2.0M

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