Full text in PMC (nucleotide) for Gene (Select 51168) - PMC

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 69472154.

Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families

Muhammad Noman, Rafaqat Ishaq, Shazia A. Bukhari, Zubair M. Ahmed, Saima Riazuddin

Genes (Basel) 2019 Dec; 10(12): 1031. Published online 2019 Dec 10. doi: 10.3390/genes10121031

PMCID:: PMC6947215

Abstract Article PDF–1.6M

Select item 69412915.

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF

Athar Khalil, Samer Bou Karroum, Rana Barake, Gabriel Dunya, Samer Abou-Rizk, Amina Kamar, Georges Nemer, Marc Bassim

BMC Med Genet. 2020; 21: 1. Published online 2020 Jan 2. doi: 10.1186/s12881-019-0942-4

PMCID:: PMC6941291

Abstract Article PDF–1.2M

Select item 69394016.

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 68383907.

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 68321108.

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 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 675749610.

Report of a Novel Splicing Mutation in the MYO15A Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the MYO15A Mutations

Elinaz Akbariazar, Ali Vahabi, Isa Abdi Rad

Clin Med Insights Case Rep. 2019; 12: 1179547619871907. Published online 2019 Sep 22. doi: 10.1177/1179547619871907

PMCID:: PMC6757496

Abstract Article PDF–620K

Select item 675517211.

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 673232012.

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 672739113.

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 668762514.

Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next‐generation sequencing

Xuejing Bai, Shiyan Nian, Lei Feng, Qingrong Ruan, Xuan Luo, Mengna Wu, Zefeng Yan

Mol Genet Genomic Med. 2019 Aug; 7(8): e808. Published online 2019 Jun 28. doi: 10.1002/mgg3.808

PMCID:: PMC6687625

Abstract Article PDF–1.3M

Select item 662503015.

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 659184316.

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 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 649847819.

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

Select item 649641520.

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

Abstract Article PDF–2.7M

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