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Article
Open AccessEstablishment of stable iPS-derived human neural stem cell lines suitable for cell therapies
Establishing specific cell lineages from human induced pluripotent stem cells (hiPSCs) is vital for cell therapy approaches in regenerative medicine, particularly for neurodegenerative disorders. While neural ...
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Article
Open AccessStepwise analysis of MIR9 loci identifies miR-9-5p to be involved in Oestrogen regulated pathways in breast cancer patients
miR-9 was initially identified as an epigenetically regulated miRNA in tumours, but inconsistent findings have been reported so far. We analysed the expression of miR-9-5p, miR-9-3p, pri-miRs and MIR9 promoters m...
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Article
Open AccessChirped pulse amplification in an extreme-ultraviolet free-electron laser
Chirped pulse amplification in optical lasers is a revolutionary technique, which allows the generation of extremely powerful femtosecond pulses in the infrared and visible spectral ranges. Such pulses are now...
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Article
Open AccessIdentification of p53-target genes in Danio rerio
To orchestrate the genomic response to cellular stress signals, p53 recognizes and binds to DNA containing specific and well-characterized p53-responsive elements (REs). Differences in RE sequences can strongl...
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Article
Open AccessGene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia
Idiopathic achalasia is characterized by the absence of peristalsis secondary to loss of neurons in the myenteric plexus that hampers proper relaxation of the lower esophageal sphincter. Achalasia can be consi...
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Article
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation
Dysequilibrium syndrome (DES) is a non-progressive congenital ataxia characterized by severe intellectual deficit, truncal ataxia and markedly delayed, quadrupedal or absent ambulation. Recessive loss-of-funct...
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Protocol
A Broad Overview of Computational Methods for Predicting the Pathophysiological Effects of Non-synonymous Variants
Next-generation sequencing has provided extraordinary opportunities to investigate the massive human genetic variability. It helped identifying several kinds of genomic mismatches from the wild-type reference gen...
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Article
Open Accesst(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders
Through a combined approach integrating RNA-Seq, SNP-array, FISH and PCR techniques, we identified two novel t(15;21) translocations leading to the inactivation of RUNX1 and its partners SIN3A and TCF12. One is a...
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Article
Open AccessOral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 of 11 families (82 %). We sequenced C5orf42 i...
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Chapter
The Biological Clock and the Molecular Basis of Lysosomal Storage Diseases
The lysosomal storage disorders encompass nearly fifty diseases provoked by lack or deficiency of enzymes essential for the breakdown of complex molecules and hallmarked by accumulation in the lysosomes of met...
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Article
Open AccessMutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the “molar tooth sign”), and variable multiorgan involvement. To date...
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Chapter
Statistical Model Checking of Membrane Systems with Peripheral Proteins: Quantifying the Role of Estrogen in Cellular Mitosis and DNA Damage
Systems biology is a natural application of membrane systems, allowing the analysis of biological systems using the formal technique of model checking. To overcome the intractable model size of typical biologi...
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Article
Open AccessCircadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment
Hunter syndrome (HS) is a lysosomal storage disease caused by iduronate-2-sulfatase (IDS) deficiency and loss of ability to break down and recycle the glycosaminoglycans, heparan and dermatan sulfate, leading ...
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Article
Open AccessSnazer: the simulations and networks analyzer
Networks are widely recognized as key determinants of structure and function in systems that span the biological, physical, and social sciences. They are static pictures of the interactions among the component...
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Chapter and Conference Paper
On Parallel Stochastic Simulation of Diffusive Systems
The parallel simulation of biochemical reactions is a very interesting problem: biochemical systems are inherently parallel, yet the majority of the algorithms to simulate them, including the well-known and wi...
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Chapter and Conference Paper
Stochastic Simulation as an Effective Cell Analysis Tool
Stochastic Simulation is today a powerful tool to foresee possible dynamics of strict subsets of the real world. In recent years, it has been successfully employed in simulating cell dynamics with the aim of d...
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Chapter and Conference Paper
Towards a Complete Covering of SBML Functionalities
The complexity of biological systems is at times made worse by the diversity of ways in which they are described: the organic evolution of the science over many years has led to a myriad of conventions. This c...
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Chapter and Conference Paper
Mitotic Oscillators as MP Graphs
This paper proposes a model in terms of metabolic P graphs of a few important processes occurring during the biological phase where the choice is made to begin again mitosis or to arrest it. The cellular proce...
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Chapter and Conference Paper
Mass Spectrometry Data Analysis for Early Detection of Inherited Breast Cancer
Mass Spectrometry (MS) can be used as a detector in High Performance Liquid Chromatography (HPLC) systems or as a tool for direct protein/peptides profiling from biological samples. Data Mining (DM) is the sem...
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Chapter and Conference Paper
Using PROTEUS for Modeling Data Mining Analysis of Proteomics Experiments on the Grid
Novel experiments in bio-medical domain involve different technologies such as mass spectrometry, bio-molecular profiling, nanotechnology, drug design, and of course bioinformatics. Bioinformatics platforms sh...
