13 Result(s)
within
Ben Ep**er
Biomedicine
Biomedicine, general
Gene Therapy
Human Genetics
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Article
Fragile sites are preferential targets for integrations of MLV vectors in gene therapy
Following gene therapy of SCID-X1 using murine leukemia virus (MLV) derived vector, two patients developed leukemia owing to an activating vector integration near the LMO2 gene. We found that these integrations r...
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Article
Erratum: Fragile sites are preferential targets for integrations of MLV vectors in gene therapy
Correction to: Gene Therapy (2006) 13, 1057–1059. doi:10.1038/sj.gt.3302752 Since the above publication the authors have noticed an error in the first DNA marker of FRA11E in Supplementary Table 1S. The correc...
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Article
Open AccessMutation spectrum of Joubert syndrome and related disorders among Arabs
Joubert syndrome (JS) is a rare autosomal recessive (AR), neurological condition characterized by dysgenesis of the cerebellar vermis with the radiological hallmark of molar tooth sign, oculomotor apraxia, rec...
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Article
Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs
Correction to: Human Genome Variation (2014) 1, 14020; doi:10.1038/hgv.2014.20; published online 6 November 2014 After online publication of this review, the authors noticed couple of errors in Table 2 in the ...
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Article
Co-expression of fibulin-5 and VEGF165 increases long-term patency of synthetic vascular grafts seeded with autologous endothelial cells
Small caliber synthetic vascular grafts are commonly used for bypass surgery and dialysis access sites but have high failure rates because of neointima formation and thrombosis. Seeding synthetic grafts with e...
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Article
Open AccessRecurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer
Pancreatic neuroendocrine tumors (pNETs) are uncommon cancers arising from pancreatic islet cells. Here we report the analysis of gene mutation, copy number, and RNA expression of 57 sporadic well-differentiat...
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Article
Adenovirus vector-mediated YKL-40 shRNA attenuates eosinophil airway inflammation in a murine asthmatic model
Recent studies have revealed that YKL-40 is involved in the pathogenesis of asthma. However, its specific mechanism remains unclear. The present study aims to investigate the effect of adenovirus vector-mediat...
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Article
Open AccessMultiomics characteristics of neurogenesis-related gene are dysregulated in tumor immune microenvironment
The success of immunotherapy was overshadowed by its low response rate, and the hot or cold tumor microenvironment was reported to be responsible for it. However, due to the lack of an appropriate method, it i...
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Article
Open AccessBroadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inher...
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Article
Open AccessGene therapy for spinal muscular atrophy: the Qatari experience
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by hypotonia, progressive muscle weakness, and wasting. Onasemnogene abeparvovec (Zolgensma®) is a novel gene therapy m...
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Article
Open AccessWhole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30–40% of cases remain geneticall...
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Open AccessNucleosome footprinting in plasma cell-free DNA for the pre-surgical diagnosis of ovarian cancer
Fragmentation patterns of plasma cell-free DNA (cfDNA) are known to reflect nucleosome positions of cell types contributing to cfDNA. Based on cfDNA fragmentation patterns, the deviation in nucleosome footprin...
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Article
Open AccessDNA and RNA base editors can correct the majority of pathogenic single nucleotide variants
The majority of human genetic diseases are caused by single nucleotide variants (SNVs) in the genome sequence. Excitingly, new genomic techniques known as base editing have opened efficient pathways to correct...
