TPM3Third Generation TPM
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Nonetheless, at present we cannot rule out with certainty the possibility of mutations in genes less frequently involved in NB myopathy (i.e., TPM3) that could produce a "double-trouble" effect, at least on the genetic and histopathological ground.
Etiologies of NB Myopathy NB in other neuromuscular disorders AD: NEB, ACTA1, TPM3, TPM2 Myopathy Idiopathic inflammatory myopathies Acute alcoholic myopathy AR: ACTA1, TPM3, TPM2, TNNT1, Myotonic dystrophy CFL2, KBTBD13, KLHL40, Sarcoglycanopathies KLHL41, LMOD3, MYPN, MYO18B Mitochondrial myopathy GYG1 polyglucosan body myopathy Late-onset Pompe disease Acquired Neuropathy MGUS Spinal muscular atrophy HIV-associated myopathy Amyotrophic lateral sclerosis Charcot-Marie-Tooth disease Other Hypothyroidism Chronic renal failure Keys: genes are written in italic font; AD, autosomal dominant; AR, autosomal recessive; NB, nemaline body; MGUS, monoclonal gammopathy of undetermined significance.
(4) performance of gene set consisting of DNAJB5, RAC3, SLA2, HDLBP, PRG2, PER1, PIK3R1, and EAPP to dinstinguish between high and low [PM.sub.10] exposure in men (above 75th percentile corresponding to 24.5 [micro]g/[m.sup.3]) and low (< 24.5 [micro]g/[m.sup.3]) and (B) performance of gene set consisting of ARHGAP4, AKAP6, PYGO2, HTR1B, ATG16L2, SIRT7, TPM3 and LIMK1 in women to distinguish between high (above 75th percentile corresponding to: 25.7 Mg/m3) and low (< 25.7 Mg/m3) long-term residential [PM.sub.10] exposure.
Results of the mRNA levels (upper panels) and protein expression levels (lower panels) of TPM1, TPM2, and TPM3 are shown in Figure 4.
Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.
Thus, ALK fusions with nucleophosmin (nucleolar phosphoprotein B23, numatrin) (NPM1) have been detected in anaplastic large cell lymphomas, fusion with vinculin (VCL) in renal medullary cancer, and fusion with tropomyosin 3 (TPM3) or tropomyosin 4 (TPM4) in inflammatory myofibroblastic tumors (53).
(23) Different fusion partners of NTRK1 have been described including TPM3 and TPR genes.
(8,15) Several ALK fusion partners have been identified, including TPM3, TPM4, CLTC, RANBP2, and ATIC.
The ALK gene rearrangements identified that have led to fusion with other genes include ATIC, (41) CARS, (61,62) TPM3, (63-65) TPM4, (63,65,66) TPM3 and TPM4, (67) CLTC, (60,65,68) RANBP2, (60,69) and SEC31L1 (SEC31A).
(191-193) Other translocation partners include non-muscle tropomyosin (TPM3, 1q25 and TPM4, 19p13.1); amino-terminus of 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase gene (ATIC, 2q35); TRK-fused gene (TFG, 3q21), with 3 variants depending on the length (short, long, extra-long); clathrin heavy polypeptide gene (CLTC, 17q23); moesin gene (MSN, Xq11-12); myosin heavy chain 9 gene (MYH9, 22q11.2); and ALK lymphoma oligomerization partner on chromosome 17 (ALO17, 17q25).
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.