TITIN GENE MUTATION - FAMILIARIZE YOURSELF WITH THIS TITAN FAMILIAL CARDIOMYOPATHYdoi:10.1016/S0735-1097(22)03736-6Irvin C. LienCarolyn EndersElsevier BVJournal of the American College of Cardiology
Titin gene:肌联蛋白基因 Titin mutation:肌联蛋白基因突变 Recombinant Titin:重组肌联蛋白 Titin-based biomarker:基于肌联蛋白的生物标志物 词根词缀及记忆方法: 虽然“titin”没有明确的词根词缀结构,但可以通过反复记忆其发音和含义来加深印象。同时,可以将其与相关的生物学术语和概念联系起来,形成一个知识网络,从...
12.Zheng W,Chen H,Deng X,et al.Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.Mol Neurobiol.2016;53:5097-102.
View Article human IF Stem Cell Res Generation of a human induced pluripotent stem cell line YCMi004-A from a patient with dilated cardiomyopathy carrying a protein-truncating mutation of the Titin gene and its differentiation towards cardiomyocytes Authors - Sun-Ho Lee View ArticleProteintech...
Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J Exome sequencing was conducted and a novel mutation c.107788T>C (p.W35930R) in the titin gene (TTN) was identified. The mutation co-segregated with... W Zheng,H Chen,X Deng...
Hereditary myopathy with early respiratory failure (HMERF) was described in several North European families and recently linked to a titin gene (TTN) mutation. We independently studied HMERF-like diseases with the purpose to identify the cause, refine diagnostic criteria, and estimate the frequency ...
展开更多 Objective To explore the relationship between Titin(TTN)mutation and immune response in cervical carcinoma(CC).Methods RNA-Seq,gene mutations,and clinical survival data for cervical squamous cell carcinoma(CSCC)were obtained from the website of The Cancer Genome Atlas(T...MORE 作者 严聪...
Introduction Mutations in the titin gene (TTN) are related to a wide spectrum of disease. In recent years, congenital titinopathy has emerged as a cause of severe early onset myopathy. Case report A case of two female sisters born at 32weeks of gestation by cesarean section, from a non-...
One of the largest protein molecules (3 × 106Mr) along with nebulin; it forms a network of fibers around actin and myosin filaments in the skeletal muscles, and may also be involved in the condensation of the chromosomes. The human titin gene contains 178/234 exons. Titin keeps myosin wit...
A genetic test was performed and revealed two titin gene mutations, both categorized as likely pathogenic (TTN c.[11831T>A]; c.[72510_72517delGACAAATG]), responsible for a genetic form of dilated cardiomyopathy. CONCLUSION. The present case suggests that in young patients presenting with ...