A5001819616- Genomic variations and chromosomal abnormalities
- MicroRNA in disease regulation
- Chromosomal and Genetic Variations
- Cancer-related molecular mechanisms research
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Advanced NMR Techniques and Applications
- Epigenetics and DNA Methylation
- Circular RNAs in diseases
- RNA modifications and cancer
- Genomics and Rare Diseases
- Solid-state spectroscopy and crystallography
- Genomics and Chromatin Dynamics
- NMR spectroscopy and applications
- Genetic Syndromes and Imprinting
- Autism Spectrum Disorder Research
- Cancer Genomics and Diagnostics
- Congenital heart defects research
- Genomics and Phylogenetic Studies
- Chromatin Remodeling and Cancer
- Hedgehog Signaling Pathway Studies
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- RNA Research and Splicing
- DNA Repair Mechanisms
University of Copenhagen
2015-2025
Copenhagen University Hospital
2012-2025
Rigshospitalet
2011-2025
University of Geneva
2017
HistoGenetics (United States)
2014
Brigham and Women's Hospital
2014
University of North Carolina at Chapel Hill
2014
Illumina (United States)
2014
Danaher (United Kingdom)
2014
North Carolina State University
2014
We report here the genome sequence of an ancient human. Obtained from ∼4,000-year-old permafrost-preserved hair, represents a male individual first known culture to settle in Greenland. Sequenced average depth 20×, we recover 79% diploid genome, amount close practical limit current sequencing technologies. identify 353,151 high-confidence single-nucleotide polymorphisms (SNPs), which 6.8% have not been reported previously. estimate raw read contamination be no higher than 0.8%. use...
MicroRNA-122 (miR-122) is an abundant liver-specific miRNA, implicated in fatty acid and cholesterol metabolism as well hepatitis C viral replication. Here, we report that a systemically administered 16-nt, unconjugated LNA (locked nucleic acid)-antimiR oligonucleotide complementary to the 5′ end of miR-122 leads specific, dose-dependent silencing shows no hepatotoxicity mice. Antagonism due formation stable heteroduplexes between LNA-antimiR detected by northern analysis. Fluorescence situ...
Abstract MicroRNAs (miRNAs) are a new class of short noncoding regulatory RNAs (18–25 nucleotides) that involved in diverse developmental and pathologic processes. Altered miRNA expression has been associated with several types human cancer. However, most studies did not establish whether changes occurred within cells undergoing malignant transformation. To obtain insight into deregulation breast cancer, we implemented an situ hybridization (ISH) method to reveal the spatial distribution...
microRNAs are ∼22 nucleotide endogenous noncoding RNAs that post-transcriptionally repress expression of protein-coding genes by base-pairing with the 3′-untranslated regions target mRNAs. We present here an inventory miRNA profiles from 13 neuroanatomically distinct areas adult mouse central nervous system (CNS). Microarray profiling in combination real-time RT-PCR and LNA (locked nucleic acid)-based situ hybridization uncovered 44 miRNAs displaying more than threefold enrichment spinal...
Elucidating the molecular mechanisms that regulate human stromal (mesenchymal) stem cell (hMSC) differentiation into osteogenic lineage is important for development of anabolic therapies treatment osteoporosis. MicroRNAs (miRNAs) are short, noncoding RNAs act as key regulators diverse biological processes by mediating translational repression or mRNA degradation their target genes. Here, we show miRNA-138 (miR-138) modulates hMSCs. miRNA array profiling and further validation quantitative...
MicroRNAs (miRNAs) regulate gene expression. It has been suggested that obtaining miRNA expression profiles can improve classification, diagnostic, and prognostic information in oncology. Here, we sought to comprehensively identify the miRNAs are overexpressed lung cancer by conducting microarray profiling on normal versus adjacent cancers from transgenic mice. We found miR-136, miR-376a, miR-31 were each prominently murine cancers. Real-time RT-PCR situ hybridization (ISH) assays confirmed...
Significance Cancer cells characteristically express proteins with immature O-glycosylation, but how and why cancer O-glycans has remained poorly understood. Here, we report that one prevalent mechanism in pancreatic is epigenetic silencing, rather than somatic mutations a key chaperone, core 1 β3-Gal-T-specific molecular chaperone ( COSMC ), required for mature elongated O-glycosylation. We also demonstrate, the use of well-defined cell systems generated by precise gene editing, aberrant...
X-linked mental retardation (XLMR) is an inherited disorder that mostly affects males and caused by mutations in genes located on the X chromosome. Here, we show XLMR protein PHF8 a C. elegans homolog F29B9.2 catalyze demethylation of di- monomethylated lysine 9 histone H3 (H3K9me2/me1). The PHD domain binds to H3K4me3 colocalizes with at transcription initiation sites. Furthermore, interacts another XMLR protein, ZNF711, which subset target genes, including gene JARID1C. Of interest, highly...
Abstract Purpose: MicroRNA (miRNA) expression profiles improve classification, diagnosis, and prognostic information of malignancies, including lung cancer. This study uncovered unique growth-suppressive miRNAs in Experimental Design: miRNA arrays were done on normal tissues adenocarcinomas from wild-type proteasome degradation-resistant cyclin E transgenic mice to reveal repressed Real-time semiquantitative reverse transcription-PCR as well situ hybridization assays validated these...
Polycomb Repressive Complex (PRC) 1 and PRC2 regulate genes involved in differentiation development. However, the mechanism for how PRC1 are recruited to mammalian cells is unclear. Here we present evidence an interaction between transcription factor REST, PRC1, show that RNF2 REST co-regulate a number of neuronal human teratocarcinoma (NT2-D1). Using NT2-D1 as model differentiation, furthermore showed retinoic-acid stimulation led displacement at binding sites, reduced H3K27Me3, increased...
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. abnormalities are common brain malformations a wide clinical spectrum ranging from severe disability to normal cognitive function. The etiology is expected be genetic as much 30-50% the cases, but underlying cause remains unknown majority cases. By next-generation mate-pair sequencing we mapped chromosomal breakpoints patient de novo balanced translocation,...
At the end of mammalian sperm development, cells expel most their cytoplasm and dispose majority RNA. Yet, hundreds RNA molecules remain in mature sperm. The biological significance vast these is unclear. To better understand processes that generate small RNAs what roles they may have, we sequenced characterized content samples from two human fertile individuals. We detected 182 microRNAs, some which are highly abundant. abundant microRNA miR-1246 with predicted targets among sperm-specific...
Whole-genome sequencing (WGS) with new short-read technologies has recently been applied for genome-wide identification of mutations. Genomic rearrangements have, however, often remained undetected by WGS, and additional analyses are required their detection. Here, we have a combination WGS genome copy number analysis, the mutations that suppress growth deficiency imposed excessive initiations from Escherichia coli origin replication, oriC . The E. chromosome, like majority bacterial...
Summary Objective Mesial temporal lobe epilepsy ( MTLE ) is one of the most common types intractable epilepsies and often associated with hippocampal sclerosis HS ), which characterized by pronounced loss pyramidal neurons. micro RNA s (mi s) have been shown to be dysregulated in neurodegenerative diseases, we hypothesized that mi could involved pathogenesis . Methods expression was quantified specimens from human patients using microarray quantitative real‐time polymerase chain reaction RT...
The purpose of this study was to investigate the potential cerebrospinal fluid miRNAs as diagnostic biomarkers acute ischemic stroke using three different profiling techniques in order identify and bypass any influence from technical variation. Cerebrospinal (CSF) patients with (n = 21) controls collected by lumbar puncture. miRNA analysis performed methods: 1) Trizol RNA extraction followed Illumina Next Generation Sequencing (NGS) on all small RNAs, 2) Exiqon protocol qPCR assays, 3)...
The CDX2 transcription factor is known to play a crucial role in inhibiting proliferation, promoting differentiation and the expression of intestinal specific genes cells. overall effect cells has previously been investigated conditional knock-out mice, revealing critical formation normal identity. identification direct targets factors key problem study gene regulatory networks. ChIP-seq technique combines chromatin immunoprecipitation (ChIP) with next generation sequencing resulting high...
Background Maternal immunization against KEL 1 of the K ell blood group system can have serious adverse consequences for fetus as well newborn baby. Therefore, it is important to determine phenotype predict whether at risk. We present data that show feasibility predicting fetal using next‐generation sequencing ( NGS ) technology. Study Design and Methods The 1/2 single‐nucleotide polymorphism was polymerase chain reaction PCR amplified with one adjoining base, product sequenced a genome...