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Integrative genomics analysis of genes with biallelic loss and its relation to the expression of mRNA and micro-RNA in esophageal squamous cell carcinoma
BackgroundGenomic instability plays an important role in human cancers. We previously characterized genomic instability in esophageal squamous cell...
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The ATP2B Plasma Membrane Ca2+ ATPase Family: Regulation in Response to Changing Demands of Cellular Calcium Transport
The mammalian ATP2B family of plasma membrane calcium ATPases (PMCAs) consists of over 30 members generated from four genes and via complex...
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Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis
BackgroundThe genetic mechanisms underlying hemangioblastoma development are still largely unknown. We used high-resolution single nucleotide...
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Urothelial cancer gene regulatory networks inferred from large-scale RNAseq, Bead and Oligo gene expression data
BackgroundUrothelial pathogenesis is a complex process driven by an underlying network of interconnected genes. The identification of novel genomic...
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Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder
BackgroundBipolar affective disorder (BP) is a common, highly heritable psychiatric disorder characterized by periods of depression and mania. Using...
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Expression of LINC00312, a long intergenic non-coding RNA, is negatively correlated with tumor size but positively correlated with lymph node metastasis in nasopharyngeal carcinoma
The long intergenic non-coding RNA LINC00312, also called NAG7, was first cloned by our group. Our previous studies have found that LINC00312 could...
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MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis
BackgroundNeurofibromatosis type 1 (NF1) is a common dominant tumor predisposition syndrome affecting 1 in 3,500 individuals. The hallmarks of NF1...
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Lack of association between IRAK2 genetic variants and aspirin exacerbated respiratory disease
Asthma is a global health problem which threatens approximately 300 million patients worldwide. Among them, up to 20 % of the asthma patients are...
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Characterization of the ATP2B gene family in blood pressure
The 12q21 locus, which lies near the plasma membrane calcium-transporting ATPase 1 gene ( ATP2B1 ), has one of the strongest associations with blood...
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The Fanconi anemia pathway in replication stress and DNA crosslink repair
Interstand crosslinks (ICLs) are DNA lesions where the bases of opposing DNA strands are covalently linked, inhibiting critical cellular processes...
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MicroRNA miR-885-5p targets CDK2 and MCM5, activates p53 and inhibits proliferation and survival
Several microRNA (miRNA) loci are found within genomic regions frequently deleted in primary neuroblastoma, including miR-885-5p at 3p25.3. In this...
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Association of 20 potential ATP2B1-interacting genes with blood pressure in Koreans
Plasma membrane calcium-transporting ATPase 1 ( ATP2B1 ) is associated significantly with blood pressure in Caucasians and Asians. ATP2B1 regulates...
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MicroRNA expression in multiple myeloma is associated with genetic subtype, isotype and survival
BackgroundMicroRNAs are small RNA species that regulate gene expression post-transcriptionally and are aberrantly expressed in many cancers including...
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Use of NotI microarrays in analysis of epigenetic and structural changes in epithelial tumor genomes by the example of human chromosome 3
A new comparative genome hybridization technology using NotI microarrays is described (Karolinska Institute International Patent WO02/086163). The...
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Methylation of the RASSF1A promoter region and the allelic imbalance frequencies in chromosome 3 critical regions correlate with progression of clear cell renal carcinoma
The short arm of chromosome 3 (3p) contains several critical regions that have increased frequencies of allelic deletions and harbor a set of tumor...
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Complex organisation and structure of the ghrelin antisense strand gene GHRLOS, a candidate non-coding RNA gene
BackgroundThe peptide hormone ghrelin has many important physiological and pathophysiological roles, including the stimulation of growth hormone (GH)...
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Autism Spectrum Disorders
Autism spectrum disorders are highly heritable with a complex neuro-developmental phenotype characterized by distinct impairments of cognitive...