PMC Links for Nucleotide (Select 1519241515) - PMC

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Items: 19

Select item 62265071.

Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss

Jinsei Jung, Hyun Been Choi, Young Ik Koh, John Hoon Rim, Hye Ji Choi, Sung Huhn Kim, Jae Hyun Lee, Jieun An, Ami Kim, Joon Suk Lee, Sun Young Joo, Seyoung Yu, Jae Young Choi, Tong Mook Kang, Heon Yung Gee

Sci Rep. 2018; 8: 16659. Published online 2018 Nov 9. doi: 10.1038/s41598-018-34876-9

PMCID:: PMC6226507

Abstract Article PDF–3.6M

Select item 22697652.

Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M₁ muscarinic acetylcholine receptors

A A Selyanko, J K Hadley, I C Wood, F C Abogadie, T J Jentsch, D A Brown

J Physiol. 2000 Feb 1; 522(Pt 3): 349–355. doi: 10.1111/j.1469-7793.2000.t01-2-00349.x

PMCID:: PMC2269765

Abstract Article PDF–196K

Select item 51795013.

Muscle Contraction Induces Acute Hydroxymethylation of the Exercise-Responsive Gene Nr4a3

Pattarawan Pattamaprapanont, Christian Garde, Odile Fabre, Romain Barrès

Front Endocrinol (Lausanne) 2016; 7: 165. Published online 2016 Dec 23. doi: 10.3389/fendo.2016.00165

PMCID:: PMC5179501

Abstract Article PDF–2.1M

Select item 51350524.

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

Yoh-ichiro Iwasa, Shin-ya Nishio, Shin-ichi Usami

PLoS One. 2016; 11(12): e0166781. Published online 2016 Dec 2. doi: 10.1371/journal.pone.0166781

PMCID:: PMC5135052

Abstract Article PDF–1020K

Select item 50230925.

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients

Kentaro Mori, Hideaki Moteki, Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami

PLoS One. 2016; 11(9): e0162230. Published online 2016 Sep 14. doi: 10.1371/journal.pone.0162230

PMCID:: PMC5023092

Abstract Article PDF–226K

Select item 48043156.

Downregulation of the Ca²⁺‐activated K⁺ channel K_C_a3.1 by histone deacetylase inhibition in human breast cancer cells

Susumu Ohya, Saki Kanatsuka, Noriyuki Hatano, Hiroaki Kito, Azusa Matsui, Mayu Fujimoto, Sayo Matsuba, Satomi Niwa, Peng Zhan, Takayoshi Suzuki, Katsuhiko Muraki

Pharmacol Res Perspect. 2016 Apr; 4(2): e00228. Published online 2016 Mar 17. doi: 10.1002/prp2.228

PMCID:: PMC4804315

Abstract Article PDF–902K

Select item 47322307.

Mechanisms of Calmodulin Regulation of Different Isoforms of Kv7.4 K⁺ Channels

Choong-Ryoul Sihn, Hyo Jeong Kim, Ryan L. Woltz, Vladimir Yarov-Yarovoy, Pei-Chi Yang, Jun Xu, Colleen E. Clancy, Xiao-Dong Zhang, Nipavan Chiamvimonvat, Ebenezer N. Yamoah

J Biol Chem. 2016 Jan 29; 291(5): 2499–2509. Published online 2015 Oct 29. doi: 10.1074/jbc.M115.668236

PMCID:: PMC4732230

Abstract Article PDF–4.0M

Select item 45814128.

Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology

Maria Carolina CCosta CMelo Svidnicki, Sueli Matilde Silva-Costa, Priscila Zonzini Ramos, Nathalia Zocal Pereira dos Santos, Fábio Tadeu Arrojo Martins, Arthur Menino Castilho, Edi Lúcia Sartorato

BMC Med Genet. 2015; 16: 85. Published online 2015 Sep 23. doi: 10.1186/s12881-015-0232-8

PMCID:: PMC4581412

Abstract Article PDF–759K

Select item 43941629.

Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes

Shin-Ya Nishio, Yoshiharu Hayashi, Manabu Watanabe, Shin-Ichi Usami

Genet Test Mol Biomarkers. 2015 Apr 1; 19(4): 209–217. doi: 10.1089/gtmb.2014.0252

PMCID:: PMC4394162

Abstract Article PDF–518K

Select item 433356910.

Functional and Molecular Evidence for K_v7 Channel Subtypes in Human Detrusor from Patients with and without Bladder Outflow Obstruction

Julie Svalø, Majid Sheykhzade, Jørgen Nordling, Christina Matras, Pierre Bouchelouche

PLoS One. 2015; 10(2): e0117350. Published online 2015 Feb 18. doi: 10.1371/journal.pone.0117350

PMCID:: PMC4333569

Abstract Article PDF–1.3M

Select item 413052011.

Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss

Hongyang Wang, Yali Zhao, Yuting Yi, Yun Gao, Qiong Liu, Dayong Wang, Qian Li, Lan Lan, Na Li, Jing Guan, Zifang Yin, Bing Han, Feifan Zhao, Liang Zong, Wenping Xiong, Lan Yu, Lijie Song, Xin Yi, Ling Yang, Christine Petit, Qiuju Wang

PLoS One. 2014; 9(8): e103133. Published online 2014 Aug 12. doi: 10.1371/journal.pone.0103133

PMCID:: PMC4130520

Abstract Article PDF–735K

Select item 377836212.

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL

Nelly Abdelfatah, David A McComiskey, Lance Doucette, Anne Griffin, Susan J Moore, Carol Negrijn, Kathy A Hodgkinson, Justin J King, Mani Larijani, Jim Houston, Susan G Stanton, Terry-Lynn Young

Eur J Hum Genet. 2013 Oct; 21(10): 1112–1119. Published online 2013 Feb 27. doi: 10.1038/ejhg.2013.5

PMCID:: PMC3778362

Abstract Article PDF–2.6M

Select item 372963713.

Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss

Yanhong Gao, Sergey Yechikov, Ana E Vázquez, Dongyang Chen, Liping Nie

J Cell Mol Med. 2013 Jul; 17(7): 889–900. Published online 2013 Jun 11. doi: 10.1111/jcmm.12080

PMCID:: PMC3729637

Abstract Article PDF–736K

Select item 364971214.

Microarray-Based Comparisons of Ion Channel Expression Patterns: Human Keratinocytes to Reprogrammed hiPSCs to Differentiated Neuronal and Cardiac Progeny

Leonhard Linta, Marianne Stockmann, Qiong Lin, André Lechel, Christian Proepper, Tobias M. Boeckers, Alexander Kleger, Stefan Liebau

Stem Cells Int. 2013; 2013: 784629. Published online 2013 Apr 15. doi: 10.1155/2013/784629

PMCID:: PMC3649712

Abstract Article PDF–635K

Select item 362713915.

Dysfunction of the Heteromeric K_V7.3/K_V7.5 Potassium Channel is Associated with Autism Spectrum Disorders

Mette Gilling, Hanne B. Rasmussen, Kirstine Calloe, Ana F. Sequeira, Marta Baretto, Guiomar Oliveira, Joana Almeida, Marlene B. Lauritsen, Reinhard Ullmann, Susanne E. Boonen, Karen Brondum-Nielsen, Vera M. Kalscheuer, Zeynep Tümer, Astrid M. Vicente, Nicole Schmitt, Niels Tommerup

Front Genet. 2013; 4: 54. Prepublished online 2012 Dec 30. Published online 2013 Apr 16. doi: 10.3389/fgene.2013.00054