A5029512666- Telomeres, Telomerase, and Senescence
- Genomic variations and chromosomal abnormalities
- Genetics, Aging, and Longevity in Model Organisms
- Chromosomal and Genetic Variations
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- Congenital heart defects research
- Genetic and rare skin diseases.
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Renal and related cancers
- Hedgehog Signaling Pathway Studies
- Tissue Engineering and Regenerative Medicine
- DNA Repair Mechanisms
- Chromatin Remodeling and Cancer
- Fetal and Pediatric Neurological Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- melanin and skin pigmentation
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Developmental Biology and Gene Regulation
- Cellular Mechanics and Interactions
- Nuclear Receptors and Signaling
- Skin and Cellular Biology Research
- Intraocular Surgery and Lenses
Vejle Sygehus
2007-2024
Lillebaelt Hospital
2012-2024
University of Southern Denmark
2012
Genetikum
2012
The University of Texas Southwestern Medical Center
2009
Aarhus University
2003-2006
Centre National de la Recherche Scientifique
2006
Sorbonne Université
2006
The consistent findings of a negative correlation between telomere length and replicative potential cultured cells, as well decreasing in number different tissues humans with age, have led to the suggestion that telomeres play role cellular aging vivo ultimately even organismal aging. Furthermore, one small longitudinal study elderly individuals has suggested longer are associated better survival.Telomere was measured mean terminal restriction fragment on blood cells from 812 persons, age 73...
Summary Previous studies have indicated that average telomere length is partly inherited ( Slagboom et al ., 1994 ; Rufer 1999 ) and there an pattern in each cell Graakjaer 2003 ); Londoño‐Vallejo 2001 ). In this study, we quantify the importance of initially lengths within cells, relation to other factors influence during life. We estimated inheritance by measuring monozygotic (MZ) twins using Q‐FISH with a specific peptide nucleic acid (PNA)‐probe. Homologous chromosomes were identified...
Abstract Chromosome 17p13.3 is a gene rich region that when deleted associated with the well‐known Miller–Dieker syndrome. A recently described duplication syndrome involving this has been intellectual impairment, autism and occasional brain MRI abnormalities. We report 34 additional patients from 21 families to further delineate clinical, neurological, behavioral, imaging findings. found highly diverse phenotype inter‐ intrafamilial variability, especially in cognitive development. The most...
A tight link exists between telomere length and both population doublings of a cell culture age given organism. The more the or higher organism, shorter telomeres. proposed model for shortening, called end replication problem, explains why erodes at each cellular turnover. Telomere is regulated by number associated proteins through different signaling pathways. determinants were studied using whole blood samples from 287 twin pairs aged 73 to 95 years. Structural equation models revealed...
Mutations in parkin, encoded by the PARK2 gene, causes early-onset familial Parkinson's disease (PD), but dysfunctional parkin has also been implicated sporadic PD. By combining human isogenic induced pluripotent stem cells (iPSCs) with and without knockout (KO) a novel large-scale mass spectrometry based proteomics post-translational modification (PTM)-omics approach, we have mapped changes protein profiles PTMs caused deficiency neurons. Our study identifies to several proteins previously...
Abstract A tight link exists between telomere length and both population doublings of a cell culture age given organism. The more the or higher organism, shorter telomeres. proposed model for shortening, called end replication problem, explains why erodes at each cellular turnover. Telomere is regulated by number associated proteins through different signaling pathways. determinants were studied using whole blood samples from 287 twin pairs aged 73 to 95 years. Structural equation models...
Telomere shortening is associated with a number of common age-related diseases. A role telomere in osteoarthritis (OA) has been suggested, mainly based on the assessment mean length ex vivo expanded chondrocytes. We addressed this directly by using newly developed assay, which measures specifically load ultra-short single telomeres (below 1,500 base pairs), that is, subpopulation believed to promote cellular senescence.Samples were obtained from human OA knees at two distances central lesion...
Spectrins and plakins are important communicators linking cytoskeletal components to each other cellular junctions. Microtubule-actin cross-linking factor 1 (MACF1) belongs the spectraplakin family is involved in control of microtubule dynamics. Complete knock out MACF1 mice associated with developmental retardation embryonic lethality. Here we present a novel neuromuscular condition. Genetic analyses show heterozygous duplication resulting reduced gene product. The functional consequence...
NSD1 point mutations, submicroscopic deletions and intragenic are the major cause of Sotos syndrome, characterized by pre‐postnatal generalized overgrowth with advanced bone age, learning disability, seizures, distinctive facial phenotype. Reverse clinical phenotype due to 5q35 microduplication encompassing gene has been reported so far in 27 cases presenting delayed microcephaly, failure thrive seizures some cases, further supporting a dosage effect on growth regulation neurological...
Human chromosomes terminate in a number of repeats the sequence TTAGGG. At birth, each chromosome end is equipped with approximately 15 kb telomere sequence, but this shortened during cell division. In cultures shortening associated senescence, phenomenon that has also been observed normal adult tissues, indicating loss organismal ageing. Previous work established rate humans age dependent, and recent shows sex-specific difference length individuals over span 20 to 75 years. Here, terminal...
Abstract Human chromosomes terminate in a number of repeats the sequence TTAGGG. At birth, each chromosome end is equipped with approximately 15 kb telomere sequence, but this shortened during cell division. In cultures shortening associated senescence, phenomenon that has also been observed normal adult tissues, indicating loss organismal ageing. Previous work established rate humans age dependent, and recent shows sex-specific difference length individuals over span 20 to 75 years. Here,...
Epigenetic markers for cell free fetal DNA in the maternal blood circulation are highly interesting field of non-invasive prenatal testing since such will offer a possibility to quantify amount derived from different chromosomes sample. The aim present study was define new specific epigenetic placental that can be utilized diagnosis. We have conducted high-resolution methylation beadchip microarray assessing more than 450.000 CpG sites. analyzed profiles 10 samples and compared them 12 1st...
Abstract: This paper characterizes the distribution of telomere length on individual chromosome arms in humans. By fluorescent situ hybridization (FISH), followed by computer‐assisted analysis digital images, it is shown that not random, but humans have a common profile. profile exists lymphocytes, amniocytes and fibroblasts, seems to be conserved during life. A closer look at overall pattern shows telomeres general follows total length. In addition profile, found each person has specific...
Methylation-based non-invasive prenatal testing of fetal aneuploidies is an alternative method that could possibly improve aneuploidy diagnosis, especially for trisomy 13(T13) and 18(T18). Our aim was to study the methylation landscape in placenta DNA from 13, 18 21 pregnancies attempt find trisomy–specific differences better suited diagnosis. We have conducted high-resolution specific bead chip microarray analyses assessing more than 450,000 CpGs analyzing placentas 12 T21 pregnancies, T18...