Associated Papers
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction.
Yokoyama R et al.
Heart and Vessels, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
Mechanical Stress and Single Nucleotide Variants Regulate Alternative Splicing of the MYLK Gene.
Mascarenhas JB et al.
American Journal of Respiratory Cell and Molecular Biology, 2017
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
24951259 (PubMed )
Supplement: gutjnl-2013-306620-s13.pdf
Structure-Function Analysis of the Non-Muscle Myosin Light Chain Kinase (nmMLCK) Isoform by NMR Spectroscopy and Molecular Modeling: Influence of MYLK Variants.
Shen K et al.
Plos One, 2015
Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.
Sosonkina N et al.
Genes & Genomics, 2014
Genomic investigations into acute inflammatory lung injury.
Garcia JG
Proceedings of the American Thoracic Society, 2011
MYLK polymorphism associated with blood eosinophil level among asthmatic patients in a Korean population.
Lee SO et al.
Molecules and Cells, 2009
Genomic insights into acute inflammatory lung injury.
Garcia JG et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2006
Novel polymorphisms in the myosin light chain kinase gene confer risk for acute lung injury.
Gao L et al.
American Journal of Respiratory Cell and Molecular Biology, 2006
Genetic determinants and ethnic disparities in sepsis-associated acute lung injury.
Barnes KC
Proceedings of the American Thoracic Society, 2005
Myosin light chain kinase ( MYLK) coding polymorphisms modulate human lung endothelial cell barrier responses via altered tyrosine phosphorylation, spatial localization, and lamellipodial protrusions.
Wang T et al.
Pulmonary Circulation, 0
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