Full text in PMC (nucleotide) for Gene (Select 2706) - PMC

Justyna Totoń-Żurańska, Przemysław Kapusta, Magda Rybak-Krzyszkowska, Katarzyna Lorenc, Julita Machlowska, Anna Skalniak, Erita Filipek, Dorota Pawlik, Paweł P. Wołkow

Int J Mol Sci. 2019 Dec; 20(23): 6006. Published online 2019 Nov 28. doi: 10.3390/ijms20236006

PMCID:: PMC6928627

Abstract Article PDF–1.9M

Select item 69225716.

Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family

Xinqiang Lan, Shiyu Sun, Xin Lan, Linyuan Niu, Chunxiao Zhang, Xiaoli Chen, Ningning Xia

Medicine (Baltimore) 2019 Dec; 98(50): e18253. Published online 2019 Dec 16. doi: 10.1097/MD.0000000000018253

PMCID:: PMC6922571

Abstract Article PDF–763K

Select item 68959657.

GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon

Edmond Tingang Wonkam, Emile Chimusa, Jean Jacques Noubiap, Samuel Mawuli Adadey, Jean Valentin F. Fokouo, Ambroise Wonkam

Genes (Basel) 2019 Nov; 10(11): 844. Published online 2019 Oct 25. doi: 10.3390/genes10110844

PMCID:: PMC6895965

Abstract Article PDF–1.2M

Select item 68627338.

Genetic variants of VEGFR-1 gene promoter in acute myocardial infarction

Haihua Wang, Shufang Zhang, Na Wang, Jie Zhang, Mingkai Chen, Xiaohui He, Yinghua Cui, Shuchao Pang, Bo Yan

Hum Genomics. 2019; 13: 56. Published online 2019 Nov 19. doi: 10.1186/s40246-019-0243-1

PMCID:: PMC6862733

Abstract Article PDF–1.8M

Select item 68266579.

Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population

Chen-Chi Wu, Cheng-Yu Tsai, Yi-Hsin Lin, Pey-Yu Chen, Pei-Hsuan Lin, Yen-Fu Cheng, Che-Ming Wu, Yin-Hung Lin, Chee-Yee Lee, Jargalkhuu Erdenechuluun, Tien-Chen Liu, Pei-Lung Chen, Chuan-Jen Hsu

Genes (Basel) 2019 Oct; 10(10): 772. Published online 2019 Oct 1. doi: 10.3390/genes10100772

PMCID:: PMC6826657

Abstract Article PDF–861K

Select item 682641810.

A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair

Maria Valeria Esposito, Giuseppina Minopoli, Luciana Esposito, Valeria D’Argenio, Federica Di Maggio, Emanuele Sasso, Massimiliano D’Aiuto, Nicola Zambrano, Francesco Salvatore

Cancers (Basel) 2019 Oct; 11(10): 1454. Published online 2019 Sep 28. doi: 10.3390/cancers11101454

PMCID:: PMC6826418

Abstract Article PDF–7.8M

Select item 682577811.

The Nudix Hydrolase 15 (NUDT15) Gene Variants among Jordanian Arab Population

Yazun Bashir Jarrar, Maria Ghishan

Asian Pac J Cancer Prev. 2019; 20(3): 801–808. doi: 10.31557/APJCP.2019.20.3.801

PMCID:: PMC6825778

Abstract Article PDF–467K

Select item 681943612.

Bioinformatic Identification of miR-622 Key Target Genes and Experimental Validation of the miR-622-RNF8 Axis in Breast Cancer

Chuanyang Liu, Lu Min, Jingyu Kuang, Chushu Zhu, Xin-Yuan Qiu, Lingyun Zhu

Front Oncol. 2019; 9: 1114. Published online 2019 Oct 23. doi: 10.3389/fonc.2019.01114

PMCID:: PMC6819436

Abstract Article PDF–2.6M

Select item 674183613.

Hypoxia-induced internalization of connexin 26 and connexin 43 in pulmonary epithelial cells is involved in the occurrence of non-small cell lung cancer via the P53/MDM2 signaling pathway

Shang-Gan Zeng, Xiang Lin, Ji-Chun Liu, Jin Zhou

Int J Oncol. 2019 Oct; 55(4): 845–859. Published online 2019 Sep 3. doi: 10.3892/ijo.2019.4867

Correction in:: Int J Oncol. 2020 Feb; 56(2): 56.

PMCID:: PMC6741836

Abstract Article PDF–3.3M

Select item 672339914.

Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population

Erick Figueroa-Ildefonso, Guney Bademci, Farid Rajabli, Mario Cornejo-Olivas, Ruy Diego Chacón Villanueva, Rodolfo Badillo-Carrillo, Miguel Inca-Martinez, Karina Milla Neyra, Claire Sineni, Mustafa Tekin

Genes (Basel) 2019 Aug; 10(8): 581. Published online 2019 Jul 31. doi: 10.3390/genes10080581

PMCID:: PMC6723399

Abstract Article PDF–964K

Select item 662711415.

Unique Mutational Spectrum of the GJB2 Gene and Its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys)

Olga L. Posukh, Marina V. Zytsar, Marita S. Bady-Khoo, Valeria Yu. Danilchenko, Ekaterina A. Maslova, Nikolay A. Barashkov, Alexander A. Bondar, Igor V. Morozov, Vladimir N. Maximov, Michael I. Voevoda

Genes (Basel) 2019 Jun; 10(6): 429. Published online 2019 Jun 5. doi: 10.3390/genes10060429

PMCID:: PMC6627114

Abstract Article PDF–1.2M

Select item 656554616.

Clinical utility in infants with suspected monogenic conditions through next‐generation sequencing

Sha Hong, Li Wang, Dongying Zhao, Yonghong Zhang, Yan Chen, Jintong Tan, Lili Liang, Tianwen Zhu

Mol Genet Genomic Med. 2019 Jun; 7(6): e684. Published online 2019 Apr 9. doi: 10.1002/mgg3.684

PMCID:: PMC6565546

Abstract Article PDF–931K

Select item 652201717.

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients

Yoh-ichiro Iwasa, Shin-ya Nishio, Akiko Sugaya, Yuko Kataoka, Yukihiko Kanda, Mirei Taniguchi, Kyoko Nagai, Yasushi Naito, Tetsuo Ikezono, Rie Horie, Yuika Sakurai, Rina Matsuoka, Hidehiko Takeda, Satoko Abe, Chiharu Kihara, Takashi Ishino, Shin-ya Morita, Satoshi Iwasaki, Masahiro Takahashi, Tsukasa Ito, Yasuhiro Arai, Shin-ichi Usami

PLoS One. 2019; 14(5): e0215932. Published online 2019 May 16. doi: 10.1371/journal.pone.0215932

PMCID:: PMC6522017

Abstract Article PDF–513K

Select item 651408018.

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment

Jeroen J. Smits, Jaap Oostrik, Andy J. Beynon, Sarina G. Kant, Pia A. M. de Koning Gans, Liselotte J. C. Rotteveel, Jolien S. Klein Wassink-Ruiter, Rolien H. Free, Saskia M. Maas, Jiddeke van de Kamp, Paul Merkus, DOOFNL Consortium, Wouter Koole, Ilse Feenstra, Ronald J. C. Admiraal, Cornelis P. Lanting, Margit Schraders, Helger G. Yntema, Ronald J. E. Pennings, Hannie Kremer

Hum Genet. 2019; 138(1): 61–72. Published online 2018 Dec 8. doi: 10.1007/s00439-018-1965-1

PMCID:: PMC6514080

Abstract Article PDF–1.2M

Select item 646565519.

Pilot study of a novel multi‐functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single‐gene disorder screening

Yuqin Luo, Bei Jia, Kai Yan, Siping Liu, Xiaojie Song, Mingfa Chen, Fan Jin, Yang Du, Juan Wang, Yan Hong, Sha Cao, Dawei Li, Minyue Dong

Mol Genet Genomic Med. 2019 Apr; 7(4): e00597. Published online 2019 Feb 14. doi: 10.1002/mgg3.597

PMCID:: PMC6465655

Abstract Article PDF–1.7M

Select item 641254220.

MicroRNA-92a promotes cell proliferation, migration and survival by directly targeting the tumor suppressor gene NF2 in colorectal and lung cancer cells

Krizelle Mae M. Alcantara, Reynaldo L. Garcia

Oncol Rep. 2019 Apr; 41(4): 2103–2116. Published online 2019 Feb 19. doi: 10.3892/or.2019.7020

PMCID:: PMC6412542

Abstract Article PDF–2.4M

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