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Unknown field was ignored: [has_clinical].

Select item 79452521.

Downregulation of lncRNA ZNF582-AS1 due to DNA hypermethylation promotes clear cell renal cell carcinoma growth and metastasis by regulating the N(6)-methyladenosine modification of MT-RNR1

Wuping Yang, Kenan Zhang, Lei Li, Yawei Xu, Kaifang Ma, Haibiao Xie, Jingcheng Zhou, Lin Cai, Yanqing Gong, Kan Gong

J Exp Clin Cancer Res. 2021; 40: 92. Published online 2021 Mar 10. doi: 10.1186/s13046-021-01889-8

Retraction in:: J Exp Clin Cancer Res. 2023; 42: 144.

Correction in:: J Exp Clin Cancer Res. 2021; 40: 167.

PMCID:: PMC7945252

Abstract Article

Select item 78653002.

Impact of an MT-RNR1 Gene Polymorphism on Hepatocellular Carcinoma Progression and Clinical Characteristics

Yang-Hsiang Lin, Yu-De Chu, Siew-Na Lim, Chun-Wei Chen, Chau-Ting Yeh, Wey-Ran Lin

Int J Mol Sci. 2021 Feb; 22(3): 1119. Published online 2021 Jan 23. doi: 10.3390/ijms22031119

PMCID:: PMC7865300

Abstract Article PDF–2.4M

Select item 111550763.

Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population

Hou-Kuang Chen, Yow-Wen Hsieh, Hsing-Yu Hsu, Ting-Yuan Liu, Yu-Ting Zhang, Chia-Der Lin, Fuu-Jen Tsai

BMC Med Genomics. 2024; 17: 155. Published online 2024 Jun 5. doi: 10.1186/s12920-024-01921-8

PMCID:: PMC11155076

Abstract Article PDF–1.1M

Select item 86133154.

Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype

John Henry McDermott, Joshua Wolf, Keito Hoshitsuki, Rachel Huddart, Kelly E. Caudle, Michelle Whirl-Carrillo, Peter S. Steyger, Richard J. H. Smith, Neal Cody, Cristina Rodriguez-Antona, Teri E. Klein, William G. Newman

Clin Pharmacol Ther. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Clin Pharmacol Ther. 2022 Feb; 111(2): 366–372. Published online 2021 Jun 20. doi: 10.1002/cpt.2309

PMCID:: PMC8613315

Abstract Article PDF–85K

Select item 112224745.

High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect

Tuyara V. Borisova, Aleksandra M. Cherdonova, Vera G. Pshennikova, Fedor M. Teryutin, Igor V. Morozov, Alexander A. Bondar, Olga A. Baturina, Marsel R. Kabilov, Georgii P. Romanov, Aisen V. Solovyev, Sardana A. Fedorova, Nikolay A. Barashkov

Sci Rep. 2024; 14: 15342. Published online 2024 Jul 3. doi: 10.1038/s41598-024-66254-z

PMCID:: PMC11222474

Abstract Article PDF–2.2M

Select item 74088836.

A Novel Approach for the Identification of Pharmacogenetic Variants in MT-RNR1 through Next-Generation Sequencing Off-Target Data

Javier Lanillos, María Santos, Marta Carcajona, Juan María Roldan-Romero, Angel M. Martinez, Bruna Calsina, María Monteagudo, Luis Javier Leandro-García, Cristina Montero-Conde, Alberto Cascón, Paolo Maietta, Sara Alvarez, Mercedes Robledo, Cristina Rodriguez-Antona

J Clin Med. 2020 Jul; 9(7): 2082. Published online 2020 Jul 2. doi: 10.3390/jcm9072082

PMCID:: PMC7408883

Abstract Article PDF–2.3M

Select item 101075467.

Using a bedside test to detect genetic susceptibility to aminoglycoside‐induced hearing loss: Has the future arrived?

Meryta L May, Joshua Osowicki, Duaa Gaafar, Graeme Suthers

J Paediatr Child Health. 2023 Jan; 59(1): 9–11. Published online 2022 Dec 5. doi: 10.1111/jpc.16302

PMCID:: PMC10107546

Abstract Article PDF–123K

Select item 89388988.

Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care

John H. McDermott, Ajit Mahaveer, Rachel A. James, Nicola Booth, Mark Turner, Karen E. Harvey, Gino Miele, Glenda M. Beaman, Duncan C. Stoddard, Karen Tricker, Rachel J. Corry, Julia Garlick, Shaun Ainsworth, Thomas Beevers, Iain A. Bruce, Richard Body, Fiona Ulph, Rhona MacLeod, Peter L. Roberts, Paul M. Wilson, William G. Newman

JAMA Pediatr. 2022 May; 176(5): 486–492. Published online 2022 Mar 21. doi: 10.1001/jamapediatrics.2022.0187

PMCID:: PMC8938898

Abstract Article

Select item 82829319.

Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China

Luhang Cai, Ya Liu, Yaping Xu, Hang Yang, Lihui Lv, Yang Li, Qiongqiong Chen, Xiaojiang Lin, Yihui Yang, Guangwei Hu, Guofeng Zheng, Jing Zhou, Qiyong Qian, Mei-ai Xu, Jin Fang, Jianjun Ding, Wei Chen, Jiong Gao

Front Genet. 2021; 12: 637096. Published online 2021 Jul 2. doi: 10.3389/fgene.2021.637096

PMCID:: PMC8282931

Abstract Article PDF–991K

Select item 547902610.

Regulating role of fetal thyroid hormones on placental mitochondrial DNA methylation: epidemiological evidence from the ENVIRONAGE birth cohort study

Bram G. Janssen, Hyang-Min Byun, Harry A. Roels, Wilfried Gyselaers, Joris Penders, Andrea A. Baccarelli, Tim S. Nawrot

Clin Epigenetics. 2017; 9: 66. Published online 2017 Jun 21. doi: 10.1186/s13148-017-0366-y

PMCID:: PMC5479026

Abstract Article PDF–740K

Select item 791320211.

A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns

Haiyan Yang, Hongyu Luo, Guiwei Zhang, Junqing Zhang, Zhiyu Peng, Jiale Xiang

BMC Med Genomics. 2021; 14: 61. Published online 2021 Feb 27. doi: 10.1186/s12920-021-00906-1

PMCID:: PMC7913202

Abstract Article PDF–1.1M

Select item 651881212.

A possible role for mitochondrial-derived peptides humanin and MOTS-c in patients with Q fever fatigue syndrome and chronic fatigue syndrome

Ruud P. H. Raijmakers, Anne F. M. Jansen, Stephan P. Keijmel, Rob ter Horst, Megan E. Roerink, Boris Novakovic, Leo A. B. Joosten, Jos W. M. van der Meer, Mihai G. Netea, Chantal P. Bleeker-Rovers

J Transl Med. 2019; 17: 157. Published online 2019 May 14. doi: 10.1186/s12967-019-1906-3

PMCID:: PMC6518812

Abstract Article PDF–2.4M

Select item 761155313.

Cell competition acts as a purifying selection to eliminate cells with mitochondrial defects during early mouse development

Ana Lima, Gabriele Lubatti, Jörg Burgstaller, Di Hu, Alistair P. Green, Aida Di Gregorio, Tamzin Zawadzki, Barbara Pernaute, Elmir Mahammadov, Salvador Perez-Montero, Marian Dore, Juan Miguel Sanchez, Sarah Bowling, Margarida Sancho, Thomas Kolbe, Mohammad M. Karimi, David Carling, Nick Jones, Shankar Srinivas, Antonio Scialdone, Tristan A. Rodriguez

Nat Metab. Author manuscript; available in PMC 2022 Jan 12.

Published in final edited form as: Nat Metab. 2021 Aug 1; 3(8): 1091–1108. Published online 2021 Jul 12. doi: 10.1038/s42255-021-00422-7

PMCID:: PMC7611553

Abstract Article PDF–6.3M

Select item 897540814.

Comparison of the Mutation Spectrum of Common Deafness-Causing Genes in 509 Patients With Nonsyndromic Hearing Loss in 4 Different Areas of China by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry

Yi Wang, Wencheng Chen, Zhizhong Liu, Wen Xing, Haiyan Zhang

J Int Adv Otol. 2021 Nov; 17(6): 492–499. Published online 2021 Nov 1. doi: 10.5152/iao.2021.21086

PMCID:: PMC8975408

Abstract Article PDF–5.4M

Select item 1076760215.

Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow‐up

Lin Kun, Huang Jiexiang, Lin Hua, Han Junlin, Ruan Yijun, Zhang Lixian, Chen Mingqiao

Mol Genet Genomic Med. 2024 Jan; 12(1): e2324. Published online 2023 Dec 1. doi: 10.1002/mgg3.2324

PMCID:: PMC10767602

Abstract Article PDF–762K

Select item 844927816.

Assessment of Hearing Screening Combined With Limited and Expanded Genetic Screening for Newborns in Nantong, China

Qing-Wen Zhu, Mu-Ting Li, Xun Zhuang, Kai Chen, Wan-Qing Xu, Yin-Hua Jiang, Gang Qin

JAMA Netw Open. 2021 Sep; 4(9): e2125544. Published online 2021 Sep 17. doi: 10.1001/jamanetworkopen.2021.25544

PMCID:: PMC8449278

Abstract Article

Select item 1037841117.

Characterization of Mitochondrial DNA Methylation of Alzheimer’s Disease in Plasma Cell-Free DNA

Binrong Ding, Xuewei Zhang, Zhengqing Wan, Feng Tian, Jie Ling, Jieqiong Tan, Xiaoqing Peng

Diagnostics (Basel) 2023 Jul; 13(14): 2351. Published online 2023 Jul 12. doi: 10.3390/diagnostics13142351

PMCID:: PMC10378411

Abstract Article PDF–1.2M

Select item 1076486818.

A novel method for detecting nine hotspot mutations of deafness genes in one tube

Yang Yu, Jun Zhang, Yuxia Zhan, Guanghua Luo

Sci Rep. 2024; 14: 454. Published online 2024 Jan 3. doi: 10.1038/s41598-023-50928-1

PMCID:: PMC10764868

Abstract Article PDF–2.8M

Select item 873875019.

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

Adebolajo Adeyemo, Rabia Faridi, Parna Chattaraj, Rizwan Yousaf, Risa Tona, Samuel Okorie, Thashi Bharadwaj, Liz M. Nouel-Saied, Anushree Acharya, Isabelle Schrauwen, Robert J. Morell, Suzanne M. Leal, Thomas B. Friedman, Andrew J. Griffith, Isabelle Roux

Eur J Hum Genet. 2022 Jan; 30(1): 42–52. Published online 2021 Nov 26. doi: 10.1038/s41431-021-00984-w

PMCID:: PMC8738750

Abstract Article PDF–928K

Select item 508314720.

PharmGKB Summary: Very Important Pharmacogene Information for MT-RNR1

Julia M. Barbarino, Tracy L. McGregor, Russ B. Altman, Teri E. Klein

Pharmacogenet Genomics. Author manuscript; available in PMC 2017 Dec 1.

Published in final edited form as: Pharmacogenet Genomics. 2016 Dec; 26(12): 558–567. doi: 10.1097/FPC.0000000000000247

PMCID:: PMC5083147

Article PDF–122K

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