Publications

copy number variation in cep57l1 predisposes to congenital absence of bilateral acl and pcl ligaments.	absence of the anterior (acl) or posterior cruciate ligament (pcl) are rare congenital malformations that result in knee joint instability, with a prevalence of 1.7 per 100,000 live births and can be associated with other lower-limb abnormalities such as acl agnesia and absence of the menisci of the knee. while a few cases of absence of acl/pcl are reported in the literature, a number of large familial case series of related conditions such as acl agnesia suggest a potential underlying monogenic ...	2015	26561035
genome-wide identification of copy number variations between two chicken lines that differ in genetic resistance to marek's disease.	copy number variation (cnv) is a major source of genome polymorphism that directly contributes to phenotypic variation such as resistance to infectious diseases. lines 63 and 72 are two highly inbred experimental chicken lines that differ greatly in susceptibility to marek's disease (md), and have been used extensively in efforts to identify the genetic and molecular basis for genetic resistance to md. using next generation sequencing, we present a genome-wide assessment of cnvs that are potenti ...	2015	26492869
the role of magt1 in genetic syndromes.	disturbances in magnesium homeostasis, often linked to altered expression and/or function of magnesium channels, have been implicated in a plethora of diseases. this review focuses on magnesium transporter 1 (magt1), as recently described changes in this gene have further extended our understanding of the role of magnesium in human health and disease. the identification of genetic changes and their functional consequences in patients with immunodeficiency revealed that magnesium and magt1 are ke ...	2015	26422833
retinal pigment epithelial cell expression of active rap 1a by scaav2 inhibits choroidal neovascularization.	to test the hypothesis that increased rap1a activity specifically in retinal pigment epithelial cells resists choroidal neovascularization (cnv), self-complementary adeno-associated virus 2 (scaav2) with rpe65-promoter-driven gfp vectors were generated and introduced subretinally into rap1b-deficient mice. six-week-old mice that received subretinal control (scaav2-con) or constitutively active rap1a (scaav2-carap1a) showed strong gfp at the 5 × 10(8) viral particle/µl dose 5 weeks later without ...	2016	27606349
copy number variation of genes involved in the hepatitis c virus-human interactome.	copy number variation (cnv) is a newly discovered form of intra-species genetic polymorphism that is defined as deletions or duplications of genome segments ranging from 1 kbp to several mbp. cnv accounts for the majority of the genetic variation observed in humans (cnv regions cover more than 10% of the human genome); therefore, it may significantly influence both the phenotype and susceptibility to various diseases. unfortunately, the impact of cnv on a number of diseases, including hepatitis ...	2016	27510840
a multifaceted computational report on the variants effect on kir2dl3 and ifnl3 candidate gene in hcv clearance.	hcv infection causes acute and chronic liver diseases including, cirrhosis and hepatocellular carcinoma. following hcv infection, spontaneous clearance occurs in approximately 20 % of the population dependant upon hcv genotype. in this study, functional and non-functional variant analysis was executed for the classical and the latest hcv clearance candidate genes namely, kir2dl3 and ifnl3. initially, the functional effects of non-synonymous snps were assigned on exposing to homology based tools, ...	2016	27461217
a new member of the family totiviridae associated with arboreal ants (camponotus nipponicus).	a putative new member of the family totiviridae was identified in arboreal ants (camponotus nipponicus). the viral dsrna consisted of 5,713 nt with two overlapping open reading frames (orfs). orf1 encodes a putative capsid protein. orf2 encodes a viral rna-dependent rna polymerase (rdrp). orf2 could be translated as a fusion protein with the orf1 product through a -1 frameshift in the overlapping orf1. phylogenetic analysis based on the rdrp revealed that the virus from c. nipponicus is closely ...	2016	27138551
biofilter as a functional annotation pipeline for common and rare copy number burden.	recent studies on copy number variation (cnv) have suggested that an increasing burden of cnvs is associated with susceptibility or resistance to disease. a large number of genes or genomic loci contribute to complex diseases such as autism. thus, total genomic copy number burden, as an accumulation of copy number change, is a meaningful measure of genomic instability to identify the association between global genetic effects and phenotypes of interest. however, no systematic annotation pipeline ...	2016	26776200
pseudotyping of lentiviral vector with novel vesiculovirus envelope glycoproteins derived from chandipura and piry viruses.	while the envelope glycoprotein of vesicular stomatitis virus (vsv-g) is widely used for pseudotyping of lentiviral vectors, sub-optimal gene transfer into certain cell types and its sensitivity to inactivation by human complement hinders its broader applications. to find alternative candidates, here we evaluated two serologically distinct novel viral envelopes derived from chandipura (cnv-g) and piry (prv-g) vesiculoviruses. both permitted generation of high titer psuedotyped lentiviral vectors ...	2016	26650691
subretinal aav2.comp-ang1 suppresses choroidal neovascularization and vascular endothelial growth factor in a murine model of age-related macular degeneration.	to assess whether tie2-mediated vascular stabilization ameliorates neovascular age-related macular degeneration (amd), we investigated the impact of adeno-associated virus-mediated gene therapy with cartilage oligomeric matrix protein angiopoietin-1 (aav2.comp-ang1) on choroidal neovascularization (cnv), vascular endothelial growth factor (vegf), and hypoxia-inducible factor (hif) in a mouse model of the disease. we treated mice with subretinal injections of aav2.comp-ang1 or control (aav2.acgfp ...	2016	26775053
gene copy number variations in the leukocyte genome of hepatocellular carcinoma patients with integrated hepatitis b virus dna.	integration of hepatitis b virus (hbv) dna into the human liver cell genome is believed to promote hbv-related carcinogenesis. this study aimed to quantify the integration of hbv dna into the leukocyte genome in hepatocellular carcinoma (hcc) patients in order to identify potential biomarkers for hbv-related diseases. whole-genome comparative genomic hybridization (cgh) chip array analyses were performed to screen gene copy number variations (cnv) in the leukocyte genome, and the results were co ...	2016	26769853
cucumber necrosis virus recruits cellular heat shock protein 70 homologs at several stages of infection.	rna viruses often depend on host factors for multiplication inside cells due to the constraints of their small genome size and limited coding capacity. one such factor that has been exploited by several plant and animal viruses is heat shock protein 70 (hsp70) family homologs which have been shown to play roles for different viruses in viral rna replication, viral assembly, disassembly, and cell-to-cell movement. using next generation sequence analysis, we reveal that several isoforms of hsp70 a ...	2016	26719261
evidence that hsc70 is associated with cucumber necrosis virus particles and plays a role in particle disassembly.	uncoating of a virus particle to expose its nucleic acid is a critical aspect of the viral multiplication cycle, as it is essential for the establishment of infection. in the present study, we investigated the role of plant hsp70 homologs in the uncoating process of cucumber necrosis virus (cnv), a nonenveloped positive-sense single-stranded rna [(+)ssrna] virus having a t=3 icosahedral capsid. we have found through western blot analysis and mass spectrometry that the hsp70 homolog hsc70-2 copur ...	2017	27807229
etiological agents of viral meningitis in children from a dengue-endemic area, southeast region of brazil.	meningitis is a disease with a global distribution that constitutes a worldwide burden, with viruses as the primary etiologic agents. the range of viral meningitis severity depends mainly on age, immune status and etiological agent. the aim of this work was to investigate the suspected cases of viral meningitis using molecular techniques to confirm the viral infection. the diagnosed virus was correlated with clinical findings and cytochemical parameters in cerebrospinal liquid (csf) of patients. ...	2017	28320174
emergence of a viral rna polymerase variant during gene copy number amplification promotes rapid evolution of vaccinia virus.	viruses are under relentless selective pressure from host immune defenses. to study how poxviruses adapt to innate immune detection pathways, we performed serial vaccinia virus infections in primary human cells. independent courses of experimental evolution with a recombinant strain lacking e3l revealed several high-frequency point mutations in conserved poxvirus genes, suggesting important roles for essential poxvirus proteins in innate immune subversion. two distinct mutations were identified ...	2017	27928012