Research graph
References from FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. Local targets link to admitted publications; unresolved targets remain external evidence.
Dilated cardiomyopathy
10.1016/s0140-6736(09)62023-7 · 2010 · External reference
Hypertrophic cardiomyopathy is predominantly a disease of left ventricular outflow tract obstruction
10.1161/circulationaha.106.644682 · 2006 · External reference
Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy
10.1161/circheartfailure.108.817346 · 2009 · External reference
Dilated cardiomyopathy: the complexity of a diverse genetic architecture
10.1038/nrcardio.2013.105 · 2013 · External reference
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
10.1016/j.ahj.2008.01.026 · 2008 · External reference
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy
10.1038/ejhg.2013.16 · 2013 · External reference
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy
10.1093/brain/aws200 · 2012 · External reference
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy
10.1016/j.ajhg.2011.04.021 · 2011 · External reference
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
10.1212/wnl.0b013e31823dc51e · 2011 · External reference
A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family
10.1016/j.nmd.2010.03.009 · 2010 · External reference
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia
10.1002/mus.23349 · 2012 · External reference
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy
10.1086/431959 · 2005 · External reference
Mutations in FLNC are associated with familial restrictive cardiomyopathy
10.1002/humu.22942 · 2016 · External reference
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
10.1038/ncomms6326 · 2014 · External reference
Guidelines for the study of familial dilated cardiomyopathies
10.1053/euhj.1998.1145 · 1999 · External reference
Echocardiographic measurements in normal subjects from infancy to old age
10.1161/01.cir.62.5.1054 · 1980 · External reference
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy
10.1371/journal.pone.0078104 · 2013 · External reference
Fast and SNP-tolerant detection of complex variants and splicing in short reads
10.1093/bioinformatics/btq057 · 2010 · External reference
An integrated map of genetic variation from 1,092 human genomes
10.1038/nature11632 · 2012 · External reference
Unresolved reference
External reference
Unresolved reference
External reference
Gene prioritization through genomic data fusion
10.1038/nbt1203 · 2006 · External reference
Unresolved reference
1993 · External reference
Stages of embryonic development of the zebrafish
10.1002/aja.1002030302 · 1995 · External reference
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy
10.1093/hmg/dds231 · 2012 · External reference
p53 activation by knockdown technologies
10.1371/journal.pgen.0030078 · 2007 · External reference
Unresolved reference
External reference
Generating transparent zebrafish: a refined method to improve detection of gene expression during embryonic development
10.1007/s1012601-0053-4 · 2001 · External reference
Roes of integrins in human induced pluripotent stem cell growth on Matrigel and vitronectin
10.1089/scd.2009.0328 · 2010 · External reference
High-throughput assay for small molecules that modulate zebrafish embryonic heart rate
10.1038/nchembio732 · 2005 · External reference
Quantifying function in the early embryonic heart
10.1115/1.4023701 · 2013 · External reference
The transitional cardiac pumping mechanics in the embryonic heart
10.1007/s13239-013-0120-3 · 2013 · External reference
Calcium extrusion is critical for cardiac morphogenesis and rhythm in embryonic zebrafish hearts
10.1073/pnas.0502683102 · 2005 · External reference
Unresolved reference
External reference
A primer for morpholino use in zebrafish
10.1089/zeb.2008.0555 · 2009 · External reference
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients
10.1093/brain/awm271 · 2007 · External reference
Filamin C-related myopathies: pathology and mechanisms
10.1007/s00401-012-1054-9 · 2013 · External reference
Filamin 2 (FLN2): a muscle-specific sarcoglycan interacting protein
10.1083/jcb.148.1.115 · 2000 · External reference
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
10.1038/ejhg.2008.226 · 2009 · External reference
Unresolved reference
External reference
Disruption of hemoglobin oxygen transport does not impact oxygen-dependent physiological processes in developing embryos of zebra fish (Danio rerio)
10.1161/01.res.79.2.358 · 1996 · External reference
Cardio-respiratory control during early development in the model animal zebrafish
10.1016/j.acthis.2008.11.005 · 2009 · External reference
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy
10.1038/nm.2037 · 2009 · External reference
Mechanical stress-strain sensors embedded in cardiac cytoskeleton: Z disk, titin, and associated structures
10.1152/ajpheart.00816.2005 · 2006 · External reference
At the crossroads of myocardial signaling: the role of Z-discs in intracellular signaling and cardiac function
10.1161/01.res.0000116143.74830.a9 · 2004 · External reference
Orai1 deficiency leads to heart failure and skeletal myopathy in zebrafish
10.1242/jcs.090464 · 2012 · External reference
The sarcomeric Z-disc and Z-discopathies
2011 · External reference
Genetic causes of human heart failure
10.1172/jci24351 · 2005 · External reference
Sarcomere gene mutations in hypertrophy and heart failure
10.1007/s12265-010-9188-4 · 2010 · External reference
Frequency and phenotypes of familial dilated cardiomyopathy
10.1016/s0735-1097(97)00434-8 · 1998 · External reference
Myofibrillar instability exacerbated by acute exercise in filaminopathy
10.1093/hmg/ddv421 · 2015 · External reference
Structural and functional aspects of filamins
10.1016/s0167-4889(01)00072-6 · 2001 · External reference
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy
10.1161/circgenetics.113.000578 · 2014 · External reference
Prioritizing causal disease genes using unbiased genomic features
10.1186/s13059-014-0534-8 · 2014 · External reference
Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro
10.1016/j.ydbio.2011.10.008 · 2012 · External reference
