Here, we generated a human induced pluripotent stem cell (IPSC) line from a DCM patient with a familial history that carries a frameshift mutation in Filamin C (FLNC). The IPSCs show typical morphology of pluripotent cells, expression of pluripotency markers, normal karyotype, and in vitro ...
对测序获得的突变进行筛 选:(1)根据测序数据质量和突变位置和功能进行初步筛选;(2)根据突变 频率通过千人基因组计划数据库(http://www.1000genomes.org/)、esp6500数 据库、exac(exome aggregation consortium)数据库进行进一步筛选;(3) 通过软件sift、mutation taster以及polyphen...
A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. This FLNC c.5161delG mutation is one nucleotide away from a previously reported FLNC mutation (c.5160delC) that was identified...
(http://www.1000genomes.org/)、ESP6500数据库、ExAC(ExomeAggregationConsortium)数据库进行进一步筛选;(3)通过软件SIFT、MutationTaster以及PolyPhen-2等对突变进行功能预测和保守性注释,筛选出高致病性的突变;(4)通过Sanger测序法对家系中的其他成员进行突变筛查;(5)通过查询OMIM、PubMed等数据库对家系致病性突变...
2. A family with Danon disease caused by a splice site mutation in LAMP2 that generates a truncated protein.[J].Nianwei;Zhou;Jie;Cui;Weipeng;Zhao;Yingying;Jiang;Wenqing;Zhu;Lu;Tang;Xuejie;Li;Minmin;Sun;Cuizhen;Pan;Xianhong;Shu,Molecular genetics & genomic medicine.2019,第3期...
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet 2005;77:297-304. 10. Wang K, Li M, Hakonarson H. ANNO- VAR: functional annotation of genetic variants from high-throughput sequenc- ing data. Nucleic Acids ...
Define FLNC. FLNC synonyms, FLNC pronunciation, FLNC translation, English dictionary definition of FLNC. Noun 1. FLNC - a terrorist group formed in 1976 to work for Corsican independence; attacks on Corsica are aimed at sabotaging public infrastructure a
Genetic panel conducted through PerkinElmer Genomics and revealed a heterozygous mutation c.1210+3A>G in the intron region of FLNC.Conclusions: Our case reinforces that the FLNC gene operates through various mechanisms, many of which have yet to be fully understood. We illustrate the variability ...
FLNC mutation, hypertrophic cardiomyopathy, penetrance, prognosisBackgroundFilamin C (FLNC) mutation was reported as a cause of HCM, with a high probability of sudden cardiac death. However, the mutation profile of FLNC, and its relationship with phenotypic expression in HCM, remains to be ...
FLNC mutationhypertrophic cardiomyopathypenetranceprognosisBackground Filamin C (FLNC) mutation was reported as a cause of HCM, with a high probability of sudden cardiac death. However, the mutation profile of FLNC, and its relationship with phenotypic expression in HCM, remains to be elucidated. ...