Publications by authors named "M Torroba"

Genome editing has proven to be highly potent in the generation of functional gene knockouts in dividing cells. In the CNS however, efficient technologies to repair sequences are yet to materialize. Reprogramming on the mRNA level is an attractive alternative as it provides means to perform in situ editing of coding sequences without nuclease dependency.

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We recently identified PHF13 as an H3K4me2/3 chromatin reader and transcriptional co-regulator. We found that PHF13 interacts with RNAPIIS5P and PRC2 stabilizing their association with active and bivalent promoters. Furthermore, mass spectrometry analysis identified ∼50 spliceosomal proteins in PHF13s interactome.

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Detailed characterization and mapping of oligonucleotide function in vivo is generally a very time consuming effort that only allows for hypothesis driven subsampling of the full sequence to be analysed. Recent advances in deep sequencing together with highly efficient parallel oligonucleotide synthesis and cloning techniques have, however, opened up for entirely new ways to map genetic function in vivo. Here we present a novel, optimized protocol for the generation of universally applicable, barcode labelled, plasmid libraries.

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Background: Embryonal central nervous system (CNS) tumors are currently classified into three types: medulloblastoma, atypical rhabdoid/teratoid tumors, and primitive neuroectodermal tumor (PNET). A distinctive subtype of PNET called "embryonal tumor with abundant neuropil and true rosettes" (ETANTR) was reported in 2000.

Discussion: ETANTR is a recently described variety of PNET that combines microscopic features of neuroblastoma and ependymoblastoma, demonstrating areas of fine fibrillary neuropil intermingled with cellular zones and ependymoblastic rosettes.

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Background: Mass lesions arising in the scalp or the cranial vault of children require a significant diagnostic work-up but their nature, in most instances, can only be clarified after histopathological study. Tumors of osseous consistency or merging from within cranial bones are seldom susceptible of fine needle aspiration biopsy and require excision. Ossified cephalhematoma is a rare entity that is usually related to perinatal or accidental trauma.

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