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The current NeoGenomics offering includes individual gene testing of BRCA1, BRCA2, MLH1, MSH2, EPCAM, MSH6, PMS2 genes as well as a comprehensive 73 gene panel that includes the following genes: AKT1, APC, ATM, ATR, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, DKN2A, CEBPA, CHEK1, CHEK2, CTNNA1, EPCAM, ETV6, FAM175A, GALNT12, GATA2, GEN1, GREM1, HOXB13, KLLN, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH8, MYH9, MYH10, MYH11, MYH13, MYH14, MYH15, NBN, NTRK1, PALB2, PIK3CA, PMS2, POLD1, POLE, PPM1D, PRSS1, PTEN, RAD50, RAD51, RAD51C, RAD51D, RET, RUNX1, SDHB, SDHC, SDHD, SMAD4, STK11, TERC, TERT, TP53, TP53BP1, VHL, WT1, XRCC2.
Source:RefSeq mRNA;Acc:NM_213740] ENSSSCG00000030 999 MYH6 myosin, heavy chain 6, cardiac muscle, alpha [Source:HGNC Symbol;Acc:7576] ENSSSCG00000002 029 MYH7 Sus scrofa myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.
HCM MASTR allows amplification and sequencing of the following genes: MYH7, MYBPC3, TNNT2, TNNI3 and MYL2.
The Stanford team compared cells from family members of a newly diagnosed 53-year-old woman with a mutation in the MYH7 gene, which partially encodes for a protein in the heart called beta myosin.
Two of the patients were familial HCM patients who were carriers of missense mutations in the MYH7  (myosin, heavy chain 7, cardiac muscle, beta) gene (Val822Met and Arg453Cys).
We isolated total RNA with TRIzol (Invitrogen) and used the TaqMan MicroRNAReverse Transcription Kit, Megaplex RT Human Pool A primers, and TaqMan human MicroRNA TLDA plate A (all from Applied Biosystems) to determine the production profile of 377 human miRNAs in the healthy LV tissues and in a pool of the 2 tissues with MYH7 mutations.
Compared with the healthy tissue, miR-495 was underproduced in the 2 samples with MYH7 mutations and overproduced in the 3 samples without sarcomeric mutations.
The FAMILION DCM Test sequences 12 genes (LMNA, ANKRD1, TNNC1, SCN5A, TPM1, MYBPC3, ACT1, LDB3, PLN, MYH7, TNNT2, TNNI3) and is performed in a CLIA-certified commercial laboratory that meets all applicable state and federal guidelines.
In brief, reference sequences for the genes MYH7  (myosin, heavy chain 7, cardiac muscle, beta), MYBPC3 (myosin binding protein C, cardiac), and TNNT2 [troponin T type 2 (cardiac)] were downloaded from the NCBI GenBank in FASTA format to generate a so-called "sequence file.
We covered the 3 genes MYH7, MYBPC3, and TNNT2 with 9 PCR products (subsequently referred to as "amplicons") that were generated in 7 individual and 1 duplex reaction (see Table 1 in the Data Supplement that accompanies the online version of this article at http://www.
Overall, MYH7 would be mutated in 10-30% of families, whereas the genes encoding cardiac troponin T (TNNT2) on chromosome 1q3, [beta]tropomyosin (TPMA) on chromosome 15q2, and myosin-binding protein C (MYBPC) on chromosome 11p11.
MYH7 is a large gene, expanding for ~25 kb of the genome, and contains 40 exons.
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