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Article
Open AccessIdentification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients
Mohr-Tranebjærg syndrome is an X-linked syndrome characterized by sensorineural hearing impairment in childhood, followed by progressive neurodegeneration leading to a broad phenotypic spectrum. Genetically MT...
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Article
Open AccessAggressiveness of non-EMT breast cancer cells relies on FBXO11 activity
Tumorigenesis is increasingly considered to rely on subclones of cells poised to undergo an epithelial to mesenchymal transition (EMT) program. We and others have provided evidence, however, that the tumorigen...
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Article
Open AccessCryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement
Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring.
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Article
Open AccessEnrichment of megabase-sized DNA molecules for single-molecule optical map** and next-generation sequencing
Next-generation sequencing (NGS) has caused a revolution, yet left a gap: long-range genetic information from native, non-amplified DNA fragments is unavailable. It might be obtained by optical map** of mega...
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Article
Open AccessElevation of brain-enriched miRNAs in cerebrospinal fluid of patients with acute ischemic stroke
The purpose of this study was to investigate the potential of cerebrospinal fluid miRNAs as diagnostic biomarkers of acute ischemic stroke using three different profiling techniques in order to identify and by...
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Article
Open AccessIdentification of the BRD1 interaction network and its impact on mental disorder risk
The bromodomain containing 1 (BRD1) gene has been implicated with transcriptional regulation, brain development, and susceptibility to schizophrenia and bipolar disorder. To advance the understanding of BRD1 a...
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Article
Open AccessGenome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57
Transient neonatal diabetes mellitus 1 (TNDM1) is a rare imprinting disorder characterized by intrautering growth retardation and diabetes mellitus usually presenting within the first six weeks of life and res...
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Article
Open AccessThe segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation
About 7 % of karyotypically balanced chromosomal rearrangements (BCRs) are associated with congenital anomalies due to gene or regulatory element disruption, and cryptic imbalances on rearranged chromosomes. R...
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Article
Open AccessDysregulation of FOXG1 by ring chromosome 14
In this study we performed molecular characterization of a patient with an extra ring chromosome derived from chromosome 14, with severe intellectual disability, epilepsy, cerebral paresis, tetraplegia, osteop...
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Article
Open AccessProfiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae
MicroRNAs (miRNAs) are a class of non-protein-coding genes that play a crucial regulatory role in mammalian development and disease. Whereas a large number of miRNAs have been annotated at the structural level...
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Article
Relating genomic variation to drug response in childhood acute lymphoblastic leukemia by multiplexed targeted sequencing
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Article
Open AccessAncient human genome sequence of an extinct Palaeo-Eskimo
We report here the genome sequence of an ancient human. Obtained from ∼4,000-year-old permafrost-preserved hair, the genome represents a male individual from the first known culture to settle in Greenland. Seq...
