WKP
Examples : ultraviolet mutational signature
Definition : Mutational signatures are characteristic combinations of mutation types arising from specific mutagenesis processes such as DNA replication infidelity, exogenous and endogenous genotoxins exposures, defective DNA repair pathways and DNA enzymatic editing.
Deciphering mutational signatures in cancer provides insight into the biological mechanisms involved in carcinogenesis and normal somatic mutagenesis.
Mutational signatures (...)
Home > A. Molecular pathology
A. Molecular pathology
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mutational signatures
10 November 2019 -
co-amplification
10 November 2019genic co-amplification; gene co-amplification in tumors
Examples
MDM2-CDK4 co-amplification in liposarcomas
TFEB-VEGFA co-amplification in renal cell carcinoma -
PTPRZ1
8 November 2019WKP
Pathology
PTPRZ1-ETV1 fusion in gliomas (#31381204#) -
replication origin
23 September 2019WKP
https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1008320
https://en.wikipedia.org/wiki/Origin_of_replication -
ADRB1
2 September 2019Pathology
A mutation in ADRB1 leads to natural short sleep trait in humans
Mice engineered with same mutation have similar short sleep behavior as humans
Activity of dorsal pons ADRB1+ neurons associates with REM sleep and wakefulness
Mutation increases the population activity of dorsal pons ADRB1+ neurons
References
A Rare Mutation of β1-Adrenergic Receptor Affects Sleep/Wake Behaviors. 2019 (...) -
RBM10
26 August 2019WKP
Definition : RNA-binding protein 10 is a protein that in humans is encoded by the RBM10 gene.
The protein encoded by this gene contains RNA recognition motif found in a variety of RNA binding proteins, including various hnRNP proteins, proteins implicated in regulation of alternative splicing, and protein components of snRNPs.
In vitro studies showed that the rat homolog bound to RNA homopolymers, with a preference for G and U polyribonucleotides. This gene is part of a gene (...) -
KAT6A
20 August 2019Microphthalmia-associated transcription factor (MiT) family translocation renal cell carcinoma harbors variable gene fusions involving either TFE3 or TFEB genes.
Multiple 5’ fusion partners for TFE3 have been reported, including ASPSCR1, CLTC, DVL2, LUC7L3, KHSRP, PRCC, PARP14, NONO, SFPQ1, MED15, RBM10, KAT6A and NEAT1. Each of these fusion genes activates TFE3 transcription which can be detected by immunostaining.
Open references
NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new (...) -
NEAT1
20 August 2019Microphthalmia-associated transcription factor (MiT) family translocation renal cell carcinoma harbors variable gene fusions involving either TFE3 or TFEB genes.
Multiple 5’ fusion partners for TFE3 have been reported, including ASPSCR1, CLTC, DVL2, LUC7L3, KHSRP, PRCC, PARP14, NONO, SFPQ1, MED15, RBM10, KAT6A and NEAT1. Each of these fusion genes activates TFE3 transcription which can be detected by immunostaining.
Open references
NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new (...) -
Arp2/3
17 July 2019Arp2/3 complex WKP
Definition : Arp2/3 complex is a seven-subunit protein complex that plays a major role in the regulation of the actin cytoskeleton. It is a major component of the actin cytoskeleton and is found in most actin cytoskeleton-containing eukaryotic cells.
Two of its subunits, the Actin-Related Proteins ARP2 and ARP3, closely resemble the structure of monomeric actin and serve as nucleation sites for new actin filaments.
The complex binds to the sides of existing (...) -
GREB1
10 July 2019WKP
Definition : Growth regulation by estrogen in breast cancer 1 is a protein that in humans is encoded by the GREB1 gene. This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
Pathology
GREB1-rearranged uterine sarcomas with variable (...)
