PMC Links for Gene (Select 4638) - PMC

Stephanie E. Wallace, Ellen S. Regalado, Limin Gong, Alexandra L. Janda, Dong-chuan Guo, Claudio F. Russo, Richard J. Kulmacz, Nadine Hanna, Guillaume Jondeau, Catherine Boileau, Pauline Arnaud, Montalcino Aortic Consortium, Kwanghyuk Lee, Suzanne M. Leal, Matias Hannuksela, Bo Carlberg, Tami Johnston, Christian Antolik, Ellen M. Hostetler, Roberto Colombo, Dianna M. Milewicz

Genet Med. Author manuscript; available in PMC 2019 Mar 5.

Published in final edited form as: Genet Med. 2019 Jan; 21(1): 144–151. Published online 2018 Jun 20. doi: 10.1038/s41436-018-0038-0

PMCID:: PMC6400320

Abstract Article PDF–874K

Select item 58562134.

Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype

Adel Shalata, Mohammad Mahroom, Dianna M. Milewicz, Gong Limin, Fadi Kassum, Khader Badarna, Nader Tarabeih, Nimmer Assy, Rona Fell, Hector Cohen, Munir Nashashibi, Alejandro Livoff, Muhammad Azab, George Habib, Dan Geiger, Omer Weissbrod, William Nseir

Orphanet J Rare Dis. 2018; 13: 41. Published online 2018 Mar 15. doi: 10.1186/s13023-018-0769-7

PMCID:: PMC5856213

Abstract Article PDF–2.3M

Select item 55057045.

Increasing evidence of mechanical force as a functional regulator in smooth muscle myosin light chain kinase

Fabian Baumann, Magnus Sebastian Bauer, Martin Rees, Alexander Alexandrovich, Mathias Gautel, Diana Angela Pippig, Hermann Eduard Gaub

eLife. 2017; 6: e26473. Published online 2017 Jul 11. doi: 10.7554/eLife.26473

PMCID:: PMC5505704

Abstract Article PDF–1.1M

Select item 55017716.

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Danny Halim, Erwin Brosens, Françoise Muller, Michael F. Wangler, Arthur L. Beaudet, James R. Lupski, Zeynep H. Coban Akdemir, Michael Doukas, Hans J. Stoop, Bianca M. de Graaf, Rutger W.W. Brouwer, Wilfred F.J. van Ijcken, Jean-François Oury, Jonathan Rosenblatt, Alan J. Burns, Dick Tibboel, Robert M.W. Hofstra, Maria M. Alves

Am J Hum Genet. 2017 Jul 6; 101(1): 123–129. Published online 2017 Jun 8. doi: 10.1016/j.ajhg.2017.05.011

PMCID:: PMC5501771

Abstract Article PDF–1.0M

Select item 52531007.

Epigenetic Contribution of the Myosin Light Chain Kinase Gene to the Risk for Acute Respiratory Distress Syndrome

Keely L. Szilágyi, Cong Liu, Xu Zhang, Ting Wang, Jeffrey D. Fortman, Wei Zhang, Joe G.N. Garcia

Transl Res. Author manuscript; available in PMC 2018 Feb 1.

Published in final edited form as: Transl Res. 2017 Feb; 180: 12–21. Published online 2016 Aug 1. doi: 10.1016/j.trsl.2016.07.020

PMCID:: PMC5253100

Abstract Article PDF–1004K

Select item 52489598.

Mechanical Stress and Single Nucleotide Variants Regulate Alternative Splicing of the MYLK Gene

Joseph B. Mascarenhas, Alex Y. Tchourbanov, Hanli Fan, Sergei M. Danilov, Ting Wang, Joe G. N. Garcia

Am J Respir Cell Mol Biol. 2017 Jan; 56(1): 29–37. doi: 10.1165/rcmb.2016-0053OC

PMCID:: PMC5248959

Abstract Article PDF–740K

Select item 51372549.

Highly sensitive myosin phosphorylation analysis in the renal afferent arteriole

Kosuke Takeya

J Smooth Muscle Res. 2016; 52: 45–55. Published online 2016 Jul 1. doi: 10.1540/jsmr.52.45

PMCID:: PMC5137254

Abstract Article PDF–1.1M

Select item 500800510.

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description

Matias Hannuksela, Eva-Lena Stattin, Joakim Klar, Adam Ameur, Bengt Johansson, Karen Sörensen, Bo Carlberg

BMC Med Genet. 2016; 17(1): 61. Published online 2016 Sep 1. doi: 10.1186/s12881-016-0326-y

PMCID:: PMC5008005

Abstract Article PDF–906K

Select item 497071911.

Myosin Light Chain Kinase (MLCK) Gene Influences Exercise Induced Muscle Damage during a Competitive Marathon

Juan Del Coso, Marjorie Valero, Beatriz Lara, Juan José Salinero, César Gallo-Salazar, Francisco Areces

PLoS One. 2016; 11(8): e0160053. Published online 2016 Aug 2. doi: 10.1371/journal.pone.0160053

Correction in:: PLoS One. 2016; 11(12): e0168309.

PMCID:: PMC4970719

Abstract Article PDF–327K

Select item 479506412.

A MYLK variant regulates asthmatic inflammation via alterations in mRNA secondary structure

Ting Wang, Tong Zhou, Laleh Saadat, Joe GN Garcia

Eur J Hum Genet. 2015 Jun; 23(6): 874–876. Published online 2014 Oct 1. doi: 10.1038/ejhg.2014.201

PMCID:: PMC4795064

Abstract Article PDF–639K

Select item 469957813.

Fine mapping of the myosin light chain kinase gene replicates the association with asthma in Spanish descent populations

Marialbert Acosta-Herrera, Maria Pino-Yanes, Shwu-Fan Ma, Amalia Barreto-Luis, Almudena Corrales, José Cumplido, Eva Pérez-Rodríguez, Paloma Campo, Celeste Eng, José Carlos García-Robaina, Inés Quintela, Jesús Villar, Miguel Blanca, Ángel Carracedo, Teresa Carrillo, Joe G.N. Garcia, Dara G. Torgerson, Esteban G. Burchard, Carlos Flores

J Allergy Clin Immunol. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: J Allergy Clin Immunol. 2015 Oct; 136(4): 1116–1118.e9. Published online 2015 May 27. doi: 10.1016/j.jaci.2015.04.025

PMCID:: PMC4699578

Article PDF–221K

Select item 459442614.

Regulation of calcium channels in smooth muscle: New insights into the role of myosin light chain kinase

A Martinsen, C Dessy, N Morel

Channels (Austin) 2014 Sep-Oct; 8(5): 402–413. Published online 2014 Oct 31. doi: 10.4161/19336950.2014.950537

PMCID:: PMC4594426

Abstract Article PDF–591K

Select item 448213915.

Structure–Function Analysis of the Non-Muscle Myosin Light Chain Kinase (nmMLCK) Isoform by NMR Spectroscopy and Molecular Modeling: Influence of MYLK Variants

Kui Shen, Benjamin Ramirez, Brandon Mapes, Grace R. Shen, Vijay Gokhale, Mary E. Brown, Bernard Santarsiero, Yoshitaka Ishii, Steven M. Dudek, Ting Wang, Joe G. N. Garcia

PLoS One. 2015; 10(6): e0130515. Published online 2015 Jun 25. doi: 10.1371/journal.pone.0130515