TNNI2 Antibody

1. Mutations in genes encoding cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) caused altered troponin protein stoichiometry in patients with dilated cardiomyopathy. TNNI3p.98trunc resulted in haploinsufficiency, increased Ca(2+) -sensitivity and reduced length-dependent activation. TNNT2p.K217del caused increased passive tension. PMID: 28436080
2. TNNI2 gene missense mutation is associated with distal arthrogryposis type 1. PMID: 26374086
3. report the first TNNI2 mutation in classical FSS and describe an atypical adult FSS case with only facial contractures resulting from somatic mosaicism PMID: 23850728
4. Molecular genetic investigations revealed pathogenic mutations in MYH3, TPM2, and TNNI2 in one sporadic and 19 familial cases of distal arthrogryposis. PMID: 22519952
5. Atrial re-expression of ssTnI during paroxysmal atrial fibrillation in patients does not seem to be part of the process of AF-associated cardiomyocyte dedifferentiation but seems to result from transient cardiomyocyte stress at the onset of AF. PMID: 15289369
6. study found a novel TNNI2 mutation in a Chinese family with distal arthrogryposis type 2B PMID: 16802141
7. Implantation of stable human clone expressing fast-twitch skeletal muscle troponin I in female BALB/c nude mice inhibits primary tumor growth and suggests that grafts are self-inhibitory by halting angiogenesis. PMID: 17393089
8. These findings reveal a new function for TNNI2 as a co-activator of ERRalpha. PMID: 18331830
9. Data found that fTnI normally associated with fast twitch skeletal muscle were present at significant levels in the thoracic aorta, and that fTnI transcripts were expressed in the smooth muscle layer of mouse blood vessels of all sizes. PMID: 18548613
10. Gene expression revealed up-regulation of pro-angiogenic (PGF), anti-apoptotics (BAG-1, BCL-2), heart development (TNNT2, TNNC1) and extracellular matrix remodelling (MMP-2, MMP-7) genes in SM. PMID: 18805052

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HGNC: 11946

OMIM: 191043

KEGG: hsa:7136

STRING: 9606.ENSP00000252898

UniGene: Hs.523403