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Prkar1a is an osteosarcoma tumor suppressor that defines a molecular subclass in mice.
TLDR
Using mouse genetics, it is established that Prkar1a is a bone tumor suppressor gene capable of directing subclass development and driving RANKL overexpression during OSA tumorigenesis and uncovered evidence for a PRKAR1A-low subset of human OSA with distinct clinical behavior.
Plk4 is required for cytokinesis and maintenance of chromosomal stability
TLDR
It is shown that loss of heterozygosity (LOH) occurs at the Plk4 locus in 50% of human hepatocellular carcinomas (HCC) and is present even in preneoplastic cirrhotic liver nodules, implicating early LOH at PlK4 as one of the drivers of human liver carcinogenesis.
Murine Pif1 Interacts with Telomerase and Is Dispensable for Telomere Function In Vivo
ABSTRACT Pif1 is a 5′-to-3′ DNA helicase critical to DNA replication and telomere length maintenance in the budding yeast Saccharomyces cerevisiae. ScPif1 is a negative regulator of telomeric repeat
Distinct patterns of structural and numerical chromosomal instability characterize sporadic ovarian cancer.
TLDR
Two distinct processes governing genome stability may be disrupted in ovarian cancer: those that impact on numerical segregation and ploidy of chromosomes and those that affect the fidelity of DNA repair and lead to structural aberrations.
The breakage–fusion–bridge (BFB) cycle as a mechanism for generating genetic heterogeneity in osteosarcoma
TLDR
This study has provided strong support for the role of the BFB cycle in generating the extensive structural chromosome aberrations, as well as cell-to-cell cytogenetic variation observed in OS, thus conferring the genetic diversity for OS tumor progression.
Identification of cryptic microaberrations in osteosarcoma by high-definition oligonucleotide array comparative genomic hybridization.
TLDR
The high levels of genomic anomalies detected suggest that the instability processes in OS that lead to a highly abnormal karyotypes may also be associated with acquisition of genomic microaberrations.
Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA
TLDR
It is concluded that the IRT/PAP/DNA protocol would represent the most suitable protocol in conditions, and decreased PAP cut-offs would result in high sensitivity, an acceptable number of false positives, and would reduce the number of DNA analyses.
Epigenetic and Phenotypic Consequences of a Truncation Disrupting the Imprinted Domain on Distal Mouse Chromosome 7
TLDR
All the imprinted genes located in the region and required for normal development are silenced by an IC2-dependent mechanism on the paternal allele, and the developmental phenotype of maternal heterozygotes is rescued fully by a paternally inherited deletion of IC2.
High definition cytogenetics and oligonucleotide aCGH analyses of cisplatin‐resistant ovarian cancer cells
TLDR
The aCGH analyses detected imbalances affecting an additional 10.59% of the genome in the cisplatin‐resistant cells compared with the parental, and 17 genes showed differential expression correlating with genomic gain or loss between the resistant and parent lines, validated by a second expression array platform.
Baroreflex sensitivity in children, adolescents, and young adults with essential and white-coat hypertension.
TLDR
The mild increase of BMI was associated with white-coat effect and a BRS and BRSf decrease and a deeper BRSand BRS f decrease, which was linked with the increased SBP-variability.
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