Recombinant Human Titin (TTN), partial

1. Among the 120 dilated cardiomyopathy patients, 20 (16.7%) had TTN truncating variants. PMID: 29386531
2. In a case-control study, there was a statistically significant association between an LOF variant in the TTN gene and early-onset AF, with the variant present in a small percentage of participants with early-onset AF (the case group). PMID: 30535219
3. novel titin gene-truncating mutation NM_001267550: p.Leu23499fs/c.70497_40498insT found in the proband as well as in her mother in woman with peripartum cardiomyopathy PMID: 29997384
4. Titin isoform expression differs in aortic stenosis and aortic regurgitation as adaptive response to different pathophysiologic scenarios. PMID: 29472025
5. TTN missense variants were commonly identified in arrhythmogenic cardiomyopathy patients in this cohort, but did not appear to play a primary role in ACM as causative variants. PMID: 29750433
6. This is the first study to suggest the involvement of the novel missense CACNA1C c.1786G>A and TTN c.49415G>A variants in the inheritance of symptomatic bradycardia and development of sick sinus syndrome. PMID: 29568937
7. We employed WES to detect the mutations of DCM patients and identified 2 novel mutations. Our study expands the spectrum of TTN mutations and offers accurate genetic testing information for DCM patients who are still clinically negative. PMID: 27544385
8. urinary concentration of titin correlated significantly with serum creatine kinase concentration, the best-known biomarker of Duchenne muscular dystrophy; the N-terminal fragment of titin in urine has potential as a diagnostic and clinical biomarker for DMD PMID: 29175173
9. we considered titin fragments as promising candidates for reliable and non-invasive biomarkers of muscle injury. PMID: 27991570
10. TTN plays a role in regulation of cardiac electrical conductance and coupling, and is a risk factor for cardiac arrhythmias and sudden cardiac death PMID: 27321809
11. The T-allele at rs10497520 in the TTN gene is associated with shorter skeletal muscle fascicle length and conveys an advantage for marathon running performance in habitually trained men. PMID: 28581678
12. An overview of the different neuromuscular disorders caused by mutations in the TTN gene, reviewing the molecular findings as well as the clinical data (review). PMID: 27854229
13. This review considers data on structural and functional features of titin, on the role of this protein in determination of mechanical properties of sarcomeres, and on specific features of regulation of the stiffness and elasticity of its molecules, and possible amyloid aggregation of this protein PMID: 29523065
14. Exome sequencing was conducted and a novel mutation c.107788T>C (p.W35930R) in the titin gene (TTN) was identified. PMID: 26392295
15. Study found that there is a missense mutation in the TTN gene, c.100126A > G (p.Thr33376Ala), in a family whose members suffer from familial dilated cardiomyopathy. TTN is closely related to dilated cardiomyopathy and is an important causative gene of familial dilated cardiomyopathy. PMID: 29109008
16. Truncating titin mutations cause a mild and treatable form of dilated cardiomyopathy. PMID: 27813223
17. Activation of titin protein represents an initial step forward adaptive remodelling of the exercised muscle and may also be involved in the initiation of myofibre repair. PMID: 28712031
18. Novel A178D missense mutation in titin is a cause of a highly penetrant familial cardiomyopathy with features of left ventricular noncompaction. PMID: 27625337
19. Quantitative models derived from large-scale human genetic and phenotypic data can be applied to truncating mutations in titin in dilated cardiomyopathy. PMID: 27625338
20. Variants near TTN and CCDC8 were associated with KI67 expression, and rs2288563 and rs2562832 in TTN are potential biomarkers for the prediction of clinical outcomes in hepatitis B-related hepatocellular carcinoma patients. PMID: 28700999
21. Recent studies classify pathogenic variants in the TTN gene as the main responsible for Familial Dilated Cardiomyopathy. PMID: 27736720
22. TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death. PMID: 28822653
23. Heterozygous loss of RBM20 suffices to profoundly impair myocyte biomechanics by its disturbance of TTN splicing causing dilated cardiomyopathy. PMID: 27496873
24. Study identified a probable association between variation in TTN gene and patients with sudden unexpected death syndrome. PMID: 28704380
25. We report that missense variant in the A-band of TTN gene is the strongest candidate mutation for autosomal-dominant inguinal hernia with incomplete penetrance. PMID: 27115767
26. Titin-truncating variant is associated with dilated cardiomyopathy. PMID: 27869827
27. Data suggest that disulfide bonds can alter mechanical stability of proteins in different ways depending on properties of system. Disulfide-bonded E coli FimG (minor component of type 1 fimbriae) undergoes a 30% increase in its mechanical stability compared with its reduced counterpart. Unfolding force of human titan I91 domain exhibits decrease of 15% relative to the wild-type form. PMID: 28642368
28. TTN truncating variants were observed in nearly one fourth of young dilated cardiomyopathy patient population, in vast majority without conduction system disease. PMID: 28045975
29. detected an Linkage Disequilibrium block associated with a rapid functional decline in patients with sporadic ALS, which is linked to decreased expression of TTN. PMID: 26746183
30. An estimated probability of pathogenicity of TTN truncating mutations affecting all transcripts of TTN, identified in unselected dilated cardiomyopathy patients is 97.8%. PMID: 26777568
31. TTN variant segregated with hypertrophic cardiomyopathy in affected members of the family. PMID: 28223422
32. A distinct phenotype for patients with distal myopathy is associated with novel recessive TTN variants including a Serbian founder variant. PMID: 28295036
33. Results show that the titin I27Y9P variant has similar mechanical stability as the wildtype. PMID: 27021163
34. Phosphorylating Titin's Cardiac N2B Element by ERK2 or CaMKIIdelta Lowers the Single Molecule and Cardiac Muscle Force PMID: 26682816
35. Suggest a potential biological role for some TTN missense variants in dilated cardiomyopathy. PMID: 26567375
36. Data suggest that titin functions as an integrated protein chain where functionalities emerge from the joint action of titan and other sarcomere/A-band components (such as TCAP); titin exhibits tertiary elasticity and molecular shape memory. [REVIEW] PMID: 26517893
37. a large number of VUS in the TTN gene were identified from a cohort of samples from patients suffering cardiac diseases associated with sudden cardiac death. PMID: 26516846
38. TTN mutations have been strongly associated with four cardiomyopathies: Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy and Restrictive cardiomyopathy. PMID: 26024954
39. The distribution of truncating variants in a large series of women with peripartum cardiomyopathy was remarkably similar to that found in patients with idiopathic dilated cardiomyopathy. PMID: 26735901
40. Cleavage of C-terminal titin by CAPN3 is associated with limb-girdle muscular dystrophy 2A and tibial muscular dystrophy. PMID: 25877298
41. findings indicate that titin mutations cause dilated cardiomyopathy by disrupting critical linkages between sarcomerogenesis and adaptive remodeling PMID: 26315439
42. Engineered all four of the naturally occurring human M10 (the extreme C-terminus of titin) missense mutants and biophysically characterized them in vitro. PMID: 25739468
43. an increase in intracellular Ca(2+) concentration leads to Ca(2+) binding to the PEVK region of titin. PMID: 25421125
44. An increase in the degree of titin phosphorylation results in increased proteolytic degradation of this protein, that contributes to the development of skeletal muscle atrophy. PMID: 26394485
45. TTNtv is the most common genetic cause of dilated cardiomyopathy in ambulant patients PMID: 25589632
46. MMP-2 degraded Titin fragment in serum is related to induction of skeletal muscle atrophy. PMID: 25077715
47. individual subfragments of titin and myomesin composed of Fn type III and Ig-like domains can activate expression of two IGF-1 splice forms in cultured myoblasts PMID: 25152160
48. Patients with hypertension and heart failure with preserved ejection fraction had an increase in S11878(S26), no change in S12022(S170) and a decrease in S4185(S469). There were no significant differences between HTN(-)HFpEF or controls at these 3 sites. PMID: 25637629
49. Results suggest that mutation in TTN could be implicated in the pathogenesis of puerperal cardiomyopathies. PMID: 24558114
50. this study presents here the X-ray structure of the human titin:obscurin M10:O1 complex extending our previous work on the M10:OL1 interaction. PMID: 25490259

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HGNC: 12403

OMIM: 188840

KEGG: hsa:7273

STRING: 9606.ENSP00000343764

UniGene: Hs.134602