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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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Open AccessA prospective, randomized, three arm, open label study comparing the safety and efficacy of PP110, a novel treatment for hemorrhoids to preparation-H® maximum strength cream in the treatment of grade 2–3 hemorrhoids
Hemorrhoids are a common disorder that affects the quality of life of millions of people worldwide. The effectiveness of OTC medication is limited and they mainly provide symptomatic relief. In order to treat ...
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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
Information-Theoretic Approaches to Understanding Stem Cell Variability
The purpose of this study is to outline how ideas from information theory may be used to analyze single-cell data and better understand stem cell behavior.
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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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Living Reference Work Entry In depth
Isolation of Bacteriophages
Before any phage can be studied, or used for its biological properties, it must first be isolated. As such, isolation is a critical step – indeed, the critical step – in many explorations of phage biology and ...
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Article
Open AccessResistance to paclitaxel is associated with a variant of the gene BCL2 in multiple tumor types
Paclitaxel, the most commonly used form of chemotherapy, is utilized in curative protocols in different types of cancer. The response to treatment differs among patients. Biological interpretation of a mechani...
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Article
Open AccessBlood-based monitoring identifies acquired and targetable driver HER2 mutations in endocrine-resistant metastatic breast cancer
Plasma genoty** identifies potentially actionable mutations at variable mutant allele frequencies, often admixed with multiple subclonal variants, highlighting the need for their clinical and functional vali...
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Chapter
Correction to: Application of iPSC to Modelling of Respiratory Diseases
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Application of iPSC to Modelling of Respiratory Diseases
Respiratory disease is one of the leading causes of morbidity and mortality world-wide with an increasing incidence as the aged population prevails. Many lung diseases are treated for symptomatic relief, with ...
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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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Chapter
CRISPR-Cas-Based Gene Therapy to Target Viral Infections
In recent years, there is an increasing demand for the development of new antiviral strategies due to the prevalence of viral infections such as those caused by the human immunodeficiency (HIV) or the hepatiti...
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Article
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-based copy number analysis confirms genomic evolution of PDX models
Genomic evolution of patient-derived xenografts (PDXs) may lead to their gradual divergence away of their tumors of origin. We previously reported the genomic evolution of the copy number (CN) landscapes of PD...
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Open AccessPublisher Correction: DNA-based copy number analysis confirms genomic evolution of PDX models
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Open AccessInduction immune-checkpoint inhibitors for resectable oncogene-mutant NSCLC: A multicenter pooled analysis
Despite limited efficacy of immunotherapy for advanced non-small-cell lung cancer (NSCLC) with driver mutations, whether neoadjuvant immunotherapy could be clinically valuable in those patients warrants furthe...