MED12 Mutations
Cytogenetically normal uterine leiomyomas without MED12-mutations – a source to identify unknown mechanisms of the development of uterine smooth muscle tumors
... Five uterine leiomyomas (UL) were investigated by CNV- arrays along with their matching myometrium (Table 1). All these UL lacked karyotypic abnormalities as detected by classical cytogenetics as well as MED12 ...
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MED12 mutations in breast phyllodes tumors: evidence of temporal tumoral heterogeneity and identification of associated critical signaling pathways
... recurrent MED12 (Mediator complex subunit 12) somatic mutations have been identified in fibroepithelial tumors: in as many as 60% of breast FAs [6, 10] and 70% of breast PTs [5, 6, 10, ...of MED12 ...
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Somatic MED12 mutations are associated with poor prognosis markers in chronic lymphocytic leukemia
... All MED12 mutations observed in exome or whole genome sequencing studies on CLL have resided in exons 1 and ...some mutations in other exons might be detectable by targeted sequencing with higher ...
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Mediator Complex Subunit 12 Gene Polymorphisms in Uterine Fibroids and Breast Fibroadenomas in Senegalese Women
... transcription. MED12 is mutated at high frequency and with different mutation frequencies in uterine fibroids and breast fibroadenomas of different ...analyze MED12 mutations in Senegalese ...
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Molecular topography of the MED12-deleted region in smooth muscle tumors: a possible link between non-B DNA structures and hypermutability
... of mutations usually does not coincide with microscopically visible chromosomal devia- ...recently, mutations of mediator subcomplex 12 ( MED12 ), have been described in a majority of fibroids ...
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<p>LncRNA SRA1 may play a role in the uterine leiomyoma tumor growth regarding the <em>MED12</em> mutation pattern</p>
... In the present study, we investigated the expression level of lncRNA SRA1 in ULM samples with and without MED12 mutation. Our results showed that the expression of the lncRNA SRA1 was up-regulated in the ULM sam- ...
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Med12 gain of function mutation causes leiomyomas and genomic instability
... The MED12 protein is highly conserved among eukaryotes (8) and plays an important role during embryogene- sis, as Med12-null mouse embryos arrest at ...of MED12 mutations within human uterine ...
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A rare coincidence of different types of driver mutations among uterine leiomyomas (UL)
... these mutations also dif- fer in their clinical behavior with ...with MED12 mutations [4, ...with MED12 muta- tions have been ...carrying MED12 mutations indistinguishable from ...
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MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours
... promoter mutations are rare in ...these mutations are also present in paired recurrences or whether there is evidence of temporal ...that MED12 is frequently heterogeneous between lesions from the ...
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Prediction of the Structure and Mutations Instability of the Med12 Exon2 Gene in Uterine Fibroids in Senegalese Women
... [19]. MED12, a gene of 45 exons, located on the X chromosome (Xq13), expressed in all Eukaryotes, forms with Cyclin C, MED13 and CDK8, a subunit of this multiprotein ...the MED12 gene has been investigated ...
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HYPOMORPHIC LETHAL MUTATIONS AND THEIR IMPLICATIONS FOR THE INTERPRETATION OF LETHAL COMPLEMENTATION STUDIES IN DROSOPHILA
... We refer to these mutations as “haplo-specific lethal mutations.” In studies of autosomal lethals, haplo-specific lethal mutations can be included in lethal com- plementation [r] ...
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MYH7 Gene Mutations in Dilated Cardiomyopathy Patients: About 190 Cases at the Institute of Cardiology, Abidjan
... The mutations reported were classified as (i) silent mutation for nucleotide change in MYH7 gene without amino acid change in beta-myosin protein sequence, (ii) missense mutation for nucleotide change in MYH7 gene ...
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In vitroprediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study
... stop mutations encountered in French CF ...stop mutations tested and more gener- ally, 10 to 40 times higher than that for other previously tested TAA-coded mutations ...other mutations tested ...
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The Amino-Acid Mutational Spectrum of Human Genetic Disease
... expected spectrum was generated for the disease genes con- sidered and, separately, for a large collection of more than 7,000 human genes available from SWISS-PROT. These two spectra were almost identical (R = 0.98, p ...
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Mutations
... Mutations SMU Law Review Volume 4 | Issue 2 Article 1 1950 Mutations Clyde Emery Paul Thorp Edward R Holland Follow this and additional works at https //scholar smu edu/smulr This Article is brought t[.] ...
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Comprehensive investigation of oncogenic driver mutations in Chinese non-small cell lung cancer patients
... and kinase domain), ERBB3 (extracellular domain and kinase domain), KRAS (exons 2–3), BRAF (exons 11–15), AKT1, ARAF, FGFR2 (extracellular domain and kinase domain) and FGFR3 (extracellular domain) by PCR using cDNA. ...
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The Arabidopsis Mediator CDK8 module genes CCT (MED12) and GCT (MED13) are global regulators of developmental phase transitions
... loss-of-function mutations of both genes are fully penetrant, they display variable expressivity: some mutant seedlings have small leaves, short petioles and malformed cotyledons but continue to grow and develop ...
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Synthetic Interactions of the Post-Golgi sec Mutations of Saccharomyces cerevisiae
... secretory mutations with striking exception we see no strong interaction of any each other: We first looked at the interactions of the of the post-Golgi sec mutations with the sec mutations ...
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Drosophila Lyra Mutations Are Gain-of-Function Mutations of senseless
... The Lyra mutation was first described by Jerry Coyne in 1935. Lyra causes recessive pupal lethality and adult heterozygous Lyra mutants exhibit a dominant loss of the anterior and posterior wing margins. Unlike many ...
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Four Genes Responsible for a Position Effect on Expression From HML and HMR in Saccharomyces cerevisiae
... As with sirl and sir2 mutations, some sir3 mutations cause the mutants to mate as a cells and to produce a-factor, whereas other mutations result in the bimat- ing phenotype[r] ...
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