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TranscriptomicsDifferent hot spot mutations in the TP53 genes exerts different biology and outcome
We report that R273 mutation in the TP53 gene in Colorectal cancer promotes transcriptional signature affecting cytoskeleton dynamics and increasing cell migration. This signature is not a general transcriptional output of mutantp53 as other known hot spot such as R175H mutation could not exerts thi...
ORGANISM(S): Homo sapiens 
2021-09-01 | GSE173364 | GEO
GenomicsDifferent hot spot mutations in the TP53 genes exerts different biology and outcome
Different hot spot mutations in the TP53 genes exerts different biology and outcome
PRJNA725250 | ENA
TranscriptomicsTranscriptomic characterization of Hepatocellular Carcinoma with CTNNB1 mutation
We report transcritomic characterization of changes in CTNNB1 mutation positive HCCs in comparison to paratumoral tissues 4 pair of HCC and paratumoral liver tissues are sequenced and compared
ORGANISM(S): Homo sapiens 
2014-08-15 | E-GEOD-55048 | biostudies-arrayexpress
UnknownA mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.
Not available
S-EPMC379098 | biostudies-literature
TranscriptomicsGene expression profiling of human breast cancer during pregnancy
Using a dataset of 54 pregnant and 113 age/stage-matched non-pregnant breast cancer patients with complete clinical and survival data; we evaluated the pattern of hot spot somatic mutations and performed transcriptomic profiling using Sequenom® and Affymetrix®, respectively. Breast cancer molecular ...
ORGANISM(S): Homo sapiens 
2014-09-09 | E-GEOD-53031 | biostudies-arrayexpress
UnknownDNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.
Not available
S-EPMC3598458 | biostudies-literature
UnknownHot-spot mimicry of a cytokine receptor by a small molecule.
Not available
S-EPMC1592646 | biostudies-literature
UnknownA duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping.
Not available
S-EPMC2800183 | biostudies-literature
UnknownThe R882H DNMT3A hot spot mutation stabilizes the formation of large DNMT3A oligomers with low DNA methyltransferase activity.
Not available
S-EPMC6851320 | biostudies-literature
UnknownNew Fks hot spot for acquired echinocandin resistance in Saccharomyces cerevisiae and its contribution to intrinsic resistance of Scedosporium species.
Not available
S-EPMC3147641 | biostudies-literature
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