Publications by authors named "Kamran Shazand"
Article Synopsis
- Multiple pterygium syndrome (MPS) is a rare genetic disorder causing joint issues and distinctive facial features, with two main types: lethal and nonlethal, both often leading to spine deformities like scoliosis.
- A study involved 12 patients from 11 families, with molecular diagnoses confirmed in seven, showing varying degrees of scoliosis severity, from mild to malignant.
- Treatment approaches included bracing and spine casting, but more severe cases may require non-fusion spinal instrumentation; ongoing monitoring is crucial for managing their condition.
Article Synopsis
- - Arthrogryposis multiplex congenita (AMC) is a condition with non-progressive congenital contractures affecting multiple body areas, and about 20% of affected children also experience scoliosis, which is a significant spinal curvature.
- - Researchers explored the DECIPHER database for genetic mutations associated with both AMC and scoliosis, identifying only two patients with shared characteristics and highlighting specific genes with copy number variations (CNVs) related to both conditions.
- - A total of 227 genes were found to be associated with AMC and scoliosis, pointing to diverse cellular functions such as gene regulation and growth factors, paving the way for future genomic research to identify potential treatments and prognostic markers.
Background: ChIP-seq is the primary technique used to investigate genome-wide protein-DNA interactions. As part of this procedure, immunoprecipitated DNA must undergo "library preparation" to enable subsequent high-throughput sequencing. To facilitate the analysis of biopsy samples and rare cell populations, there has been a recent proliferation of methods allowing sequencing library preparation from low-input DNA amounts.
View Article and Find Full Text PDFLeukemia stem cells (LSCs) play a pivotal role in the resistance of chronic myeloid leukemia (CML) to tyrosine kinase inhibitors (TKIs) and its progression to blast crisis (BC), in part, through the alternative splicing of self-renewal and survival genes. To elucidate splice-isoform regulators of human BC LSC maintenance, we performed whole-transcriptome RNA sequencing, splice-isoform-specific quantitative RT-PCR (qRT-PCR), nanoproteomics, stromal coculture, and BC LSC xenotransplantation analyses. Cumulatively, these studies show that the alternative splicing of multiple prosurvival BCL2 family genes promotes malignant transformation of myeloid progenitors into BC LSCS that are quiescent in the marrow niche and that contribute to therapeutic resistance.
View Article and Find Full Text PDFThe International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
View Article and Find Full Text PDFObjective: To determine whether the proportion of several leukocyte subsets is modulated in the endometrium of patients with endometriosis and, if yes, whether it can be used for diagnostic purposes.
Design: Case-control study.
Setting: Eight clinical institutions of the Montreal area.
Objective: To determine whether blood leukocyte populations could be modulated in endometriosis.
Design: Case-control study.
Setting: Eight clinical institutions of the Montreal area.