Emerging genetic therapies to treat Duchenne muscular dystrophy.
Published in Current Opinion in Neurology
Fyn and SRC are effectors of oncogenic epidermal growth factor receptor signaling in glioblastoma patients.
...Published in Cancer Research
Activating epidermal growth factor receptor (EGFR) mutations are common in many cancers including glioblastoma. However, clinical responses to EGFR inhibitors are infrequent and short-lived. We show that the Src family kinases (SFK) Fyn and Src are effectors of oncogenic EGFR signaling, enhancing invasion and tumor cell survival in vivo. Expression...
Local alignment of two-base encoded DNA sequence
Published in BMC Bioinformatics
BackgroundDNA sequence comparison is based on optimal local alignment of two sequences using a similarity score. However, some new DNA sequencing technologies do not directly measure the base sequence, but rather an encoded form, such as the two-base encoding considered here. In order to compare such data to a reference sequence, the data must be d...
Molecular properties of CD133+ glioblastoma stem cells derived from treatment-refractory recurrent brain tumors
...Published in Journal of Neuro-Oncology
Glioblastoma multiforme (GBM) remains refractory to conventional therapy. CD133+ GBM cells have been recently isolated and characterized as chemo-/radio-resistant tumor-initiating cells and are hypothesized to be responsible for post-treatment recurrence. In order to explore the molecular properties of tumorigenic CD133+ GBM cells that resist treat...
Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome
...Published in The American Journal of Human Genetics
The short-rib polydactyly (SRP) syndromes are a heterogenous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affect...
Bevacizumab and chemotherapy for recurrent glioblastoma: a single-institution experience.
...Published in Neurology
A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain ...
...Published in The American Journal of Human Genetics
Analysis of a nuclear family with three affected offspring identified an autosomal-recessive form of spondyloepimetaphyseal dysplasia characterized by severe short stature and a unique constellation of radiographic findings. Homozygosity for a haplotype that was identical by descent between two of the affected individuals identified a locus for the...
Association of the cannabinoid receptor gene (CNR1) with ADHD and post-traumatic stress disorder.
...Attention deficit hyperactivity disorder (ADHD) is a highly heritable disorder affecting some 5-10% of children and 4-5% of adults. The cannabinoid receptor gene (CNR1) is a positional candidate gene due to its location near an identified ADHD linkage peak on chromosome 6, its role in stress and dopamine regulation, its association with other psych...
Gene expression analysis of glioblastomas identifies the major molecular basis for the prognostic benefit of younger age...
...Published in BMC Medical Genomics
BackgroundGlioblastomas are the most common primary brain tumour in adults. While the prognosis for patients is poor, gene expression profiling has detected signatures that can sub-classify GBMs relative to histopathology and clinical variables. One category of GBM defined by a gene expression signature is termed ProNeural (PN), and has substantial...
Relationship between gene expression and enhancement in glioblastoma multiforme: exploratory DNA microarray analysis.
...Published in Radiology
