|
NEMALINE MYOPATHY 5
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
A lethal form of nemaline myopathy, named "Amish Nemaline Myopathy" (ANM), is linked to a nonsense mutation at codon Glu180 in the slow skeletal muscle troponin T (TnT) gene.
|
12732643 |
2003 |
|
NEMALINE MYOPATHY 5
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
The truncated slow TNNT1 (TnT) fragment (p.Glu180Ter) was undetectable in ANM muscle, reflecting its rapid proteolysis and clearance from sarcoplasm.
|
29931346 |
2018 |
|
NEMALINE MYOPATHY 5
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
The total loss of slow skeletal muscle troponin T (ssTnT encoded by TNNT1 gene) due to a nonsense mutation in codon Glu(180) causes a lethal form of recessively inherited nemaline myopathy (Amish nemaline myopathy, ANM).
|
24445317 |
2014 |
|
NEMALINE MYOPATHY 5
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
A nonsense mutation at codon Glu180 of TNNT1 gene causes Amish nemaline myopathy (ANM), a recessively inherited disease with infantile lethality.
|
31148174 |
2019 |
|
NEMALINE MYOPATHY 5
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy.
|
15665378 |
2005 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A nonsense mutation at codon Glu180 in exon 11 of slow skeletal muscle troponin T (TnT) gene (TNNT1) causes an autosomal-recessive inherited nemaline myopathy.
|
15665378 |
2005 |
|
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
BEFREE |
Five genes have now been associated with nemaline myopathy: alpha-tropomyosin-3 (TPM3), alpha-actin (ACTA1), nebulin (NEB), beta-tropomysin (TPM2) and troponin T (TNNT1).
|
12805120 |
2003 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.
|
25430424 |
2015 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A recessive mutation causing nemaline myopathy among the Old Order Amish has recently been identified in the gene for slow skeletal muscle troponin T. As linkage studies had shown that at least one further gene exists for nemaline myopathy, we investigated another tropomyosin gene expressed in skeletal muscle, the beta-tropomyosin 2 gene.
|
11738357 |
2002 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To date, only homozygous nonsense mutations or compound heterozygous truncating or internal deletion mutations in TNNT1 gene have been identified in NEM.
|
29178646 |
2017 |
|
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
BEFREE |
TNNT1 nemaline myopathy: natural history and therapeutic frontier.
|
29931346 |
2018 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found.
|
31604653 |
2019 |
|
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
BEFREE |
Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.
|
12732643 |
2003 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The total loss of slow skeletal muscle troponin T (ssTnT encoded by TNNT1 gene) due to a nonsense mutation in codon Glu(180) causes a lethal form of recessively inherited nemaline myopathy (Amish nemaline myopathy, ANM).
|
24445317 |
2014 |
|
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
More TNNT1 NM mutations have been reported recently with similar recessive phenotypes.
|
27429059 |
2016 |
|
Myopathy
|
0.140 |
Biomarker
|
group |
BEFREE |
The pathogenic mechanism and the neuromuscular reflex-related phenotype (e.g. tremors accompanied by clonus) of Amish nemaline myopathy, as well as of other recessively inherited TNNT1 myopathies, remain to be clarified.
|
31148174 |
2019 |
|
Myopathy
|
0.140 |
Biomarker
|
group |
BEFREE |
These findings have implications for emerging molecular therapies, including the suitably of TNNT1 gene replacement for newborns with ANM or other TNNT1-associated myopathies.
|
29931346 |
2018 |
|
Myopathy
|
0.140 |
Biomarker
|
group |
BEFREE |
These novel findings lay a foundation for understanding the pathogenesis of TNNT1 myopathies and provide insights into the development of targeted treatment.
|
27429059 |
2016 |
|
Myopathy
|
0.140 |
GeneticVariation
|
group |
BEFREE |
Congenital nemaline body myopathy due to mutations in TNNT1 has hitherto only been described as a result of a single founder mutation in patients of Amish origin and in 2 other individuals with different recessive mutations.
|
26296490 |
2016 |
|
Neoplasm Metastasis
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
TNT, or systemic chemotherapy followed by chemoradiation (CRT), addresses both occult metastases and positive margin risks and thus is a potentially optimal strategy; however, factors predictive of perioperative and survival outcomes are currently undefined.
|
30946090 |
2019 |
|
Neoplasm Metastasis
|
0.030 |
GeneticVariation
|
phenotype |
BEFREE |
Importantly, the distinction between Basal-like versus non-Basal-like within TNBC might predict survival following (neo)adjvuvant multi-agent chemotherapy, bevacizumab benefit in the neoadjuvant setting (CALGB40603), and docetaxel vs. carboplatin benefit in first-line metastatic disease (TNT study).
|
26253814 |
2015 |
|
Neoplasm Metastasis
|
0.030 |
AlteredExpression
|
phenotype |
BEFREE |
Genes overexpressed in LMS metastases included TNNT1, FOLR3, TDO2, CRYM, GJA1, TSPAN10, THBS1, SGK1, SHMT1, EGR2, and AGT.
|
24485798 |
2014 |
|
Neoplasms
|
0.030 |
Biomarker
|
group |
BEFREE |
Together, these results suggest that TNF-enhanced tk gene therapy should provide a useful treatment for TNF-alpha-sensitive tumors and perhaps also for TNT-alpha-resistant tumors if vector delivery can be improved to increase the percentage of transduced tumor cells.
|
9865731 |
1998 |
|
Neoplasms
|
0.030 |
Biomarker
|
group |
BEFREE |
On the contrary, the randomized TNT trial showed a significant benefit for carboplatin vs docetaxel in terms of response rate and PFS specifically in patients with advanced gBRCA -associated tumors.
|
30819448 |
2019 |
|
Neoplasms
|
0.030 |
AlteredExpression
|
group |
BEFREE |
Moreover, after in vivo administration, the betaG enzyme was shown to localize to tumor and remain active for up to 9 days demonstrating a key characteristic of TNT targeting.
|
12954121 |
2003 |