Associated Papers
The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots.
Kazan HH et al.
Cureus, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
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
Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome.
Luo X et al.
Frontiers in Genetics, 2020
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Lu C et al.
Cold Spring Harbor Molecular Case Studies, 2016
A MYLK variant regulates asthmatic inflammation via alterations in mRNA secondary structure.
Wang T et al.
European Journal of Human Genetics : Ejhg, 2015
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
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
Genomic investigations into acute inflammatory lung injury.
Garcia JG
Proceedings of the American Thoracic Society, 2011
Variation in the myosin light chain kinase gene is associated with development of acute lung injury after major trauma.
Christie JD et al.
Critical Care Medicine, 2008
Integrating genomic and clinical medicine: searching for susceptibility genes in complex lung diseases.
Desai AA et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2008
Recent advances in asthma genetics.
Zhang J et al.
Respiratory Research, 2008
A variant of the myosin light chain kinase gene is associated with severe asthma in African Americans.
Flores C et al.
Genetic Epidemiology, 2007
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
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