A novel human TPIP splice-variant (TPIP-C2) mRNA, expressed in human and mouse tissues, strongly inhibits cell growth in HeLa cells. [PDF]
PLoS ONE, 2011 Alternative splicing of mRNAs is known to involve a major regulation of gene expression at RNA level in mammalian cells. The PTEN (Phosphatase and TENsin homologue deleted from the human chromosome 10), TPTE (Transmembrane Phosphatase with TEnsin ...
Rasmi Rekha Mishra +3 more
doaj +1 more source
Epilepsy in patients with Angelman syndrome
Italian Journal of Pediatrics, 2010 Angelman syndrome (AS) is a neuro-behavioural, genetically determined condition, characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts of laughter in association with seizures, learning disabilities and language ...
Fiumara Agata +3 more
doaj +1 more source
InPhaDel: integrative shotgun and proximity-ligation sequencing to phase deletions with single nucleotide polymorphisms. [PDF]
, 2016 Phasing of single nucleotide (SNV), and structural variations into chromosome-wide haplotypes in humans has been challenging, and required either trio sequencing or restricting phasing to population-based haplotypes.
Bafna, Vineet +4 more
core +2 more sources
Mutation and Expression of the DCC Gene in Human Lung Cancer
Neoplasia: An International Journal for Oncology Research, 2000 Chromosome 18q is frequently deleted in lung cancers, a common region of 18q deletions was mapped to chromosome 18g21. Since the DCC candidate tumor suppressor gene has been mapped in this region, mutation and expression of the DCC gene were examined in ...
Takashi Kohno +6 more
doaj +1 more source
Dynamic clonal progression in xenografts of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21 [PDF]
, 2018 Intrachromosomal amplification of chromosome 21 is a heterogeneous chromosomal rearrangement occurring in 2% of childhood precursor B-cell acute lymphoblastic leukemia.
Bashton, Matthew +18 more
core +3 more sources
Reduced mutation rate and increased transformability of transposon-free Acinetobacter baylyi ADP1-ISx [PDF]
, 2017 The genomes of most bacteria contain mobile DNA elements that can contribute to undesirable genetic instability in engineered cells. In particular, transposable insertion sequence (IS) elements can rapidly inactivate genes that are important for a ...
Barrick, Jeffrey E +3 more
core +2 more sources
Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype [PDF]
Molecular Syndromology, 2019 Patients with deletion of chromosome 13 present with variable clinical features, and the correlation between phenotype and genomic aberration is not well established in the literature, mainly due to variable sizes of the deleted segments and inaccuracy of breakpoint mapping.
Fernanda T, Bellucco +6 more
openaire +2 more sources
MicroRNA-383 located in frequently deleted chromosomal locus 8p22 regulates CD44 in prostate cancer. [PDF]
, 2016 A major genomic alteration in prostate cancer (PCa) is frequent loss of chromosome (chr) 8p with a common region of loss of heterozygosity (LOH) at chr8p22 locus.
Bucay, N +14 more
core +1 more source
Importance of biomarkers in glioblastomas patients receiving local BCNU wafer chemotherapy
Molecular Cytogenetics, 2017 Background To assess the influence of molecular markers with potential prognostic value to groups of patients with newly diagnosed glioblastoma patients were examined: group A with 36 patients (surgical resection plus standard combined chemoradiotherapy)
Steffi Urbschat +5 more
doaj +1 more source
Differential expression analysis with global network adjustment [PDF]
, 2013 <p>Background: Large-scale chromosomal deletions or other non-specific perturbations of the transcriptome can alter the expression of hundreds or thousands of genes, and it is of biological interest to understand which genes are most profoundly ...
A Antonellis +28 more
core +3 more sources