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Nature, ISSN 0028-0836, 04/2010, Volume 464, Issue 7290, pp. 917 - 921
The vascular endothelial growth factors (VEGFs) are major angiogenic regulators and are involved in several aspects of endothelial cell physiology. However,... 
MYOCARDIUM | SKELETAL-MUSCLE | LIPID-METABOLISM | ANGIOGENESIS | INSULIN-RESISTANCE | MULTIDISCIPLINARY SCIENCES | MOUSE | RECEPTOR | DEFICIENT MICE | VEGF-B | TRANSPORT PROTEIN | Neuropilin-1 - genetics | Vascular Endothelial Growth Factor B - deficiency | Oligonucleotide Array Sequence Analysis | Neuropilin-1 - metabolism | Humans | Adipose Tissue, White - metabolism | Male | Mitochondrial Proteins - genetics | Biological Transport | Mitochondria - genetics | Mitochondrial Proteins - metabolism | Myocardium - metabolism | Transcription, Genetic | Muscles - metabolism | Fatty Acids - metabolism | Cell Line | Signal Transduction | Mice, Inbred C57BL | Cells, Cultured | Gene Expression Regulation | Vascular Endothelial Growth Factor Receptor-1 - metabolism | Mitochondria - metabolism | Organ Specificity | Endothelium - cytology | Animals | Cell Nucleus - genetics | Endothelium - metabolism | Vascular Endothelial Growth Factor B - metabolism | Vascular Endothelial Growth Factor B - genetics | Adipose Tissue, Brown - metabolism | Mice | Fatty Acid Transport Proteins - genetics | Care and treatment | Physiological aspects | Genetic aspects | Diabetes | Research | Cardiovascular diseases | Vascular endothelial growth factor | Proteins | Signal transduction | Rodents | Binding sites | Index Medicus | Basic Medicine | Medical and Health Sciences | Internal medicine | Medicin och hälsovetenskap | Molekylär medicin (genetik och patologi) | Molecular medicine (genetics and pathology) | MEDICINE | Dermatology and venerology,clinical genetics, internal medicine | Medical Genetics | Medicinsk genetik | MEDICIN | Medicinska och farmaceutiska grundvetenskaper | Invärtesmedicin | Dermatologi och venerologi, klinisk genetik, invärtesmedicin
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2009, Volume 85, Issue 2, pp. 248 - 253
Journal Article
Human Mutation, ISSN 1059-7794, 07/2019, Volume 40, Issue 7, pp. 899 - 903
Biallelic and pathogenic variants in the RTTN gene, encoding the centrosomal protein Rotatin, are associated with variable degrees of neurodevelopmental... 
microcephaly | brachydactyly | RTTN | exon skipping | Rotatin | gene variant | RTTN gene variant | MALFORMATIONS | GENETICS & HEREDITY | Dwarfism | Microencephaly | Leukocyte migration | Magnetic resonance imaging | Neurodevelopmental disorders | Microcephaly | Cell migration | Brachydactyly | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 04/2013, Volume 34, Issue 4, pp. 572 - 577
Journal Article
Stem Cell Research, ISSN 1873-5061, 07/2019, Volume 38, pp. 101474 - 101474
Von Hippel-Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in the tumor suppressor gene . We generated human iPSC lines from primary... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY
Journal Article
PLoS Genetics, ISSN 1553-7390, 07/2017, Volume 13, Issue 7, pp. e1006897 - e1006897
Claudins constitute the major component of tight junctions and regulate paracellular permeability of epithelia. Claudin-10 occurs in two major isoforms that... 
CLAUDINS | BARRIER | DISEASE | GENETICS & HEREDITY | ARCHITECTURE | TIGHT JUNCTION PROTEINS | CHANNELS | MUTATIONS | MODEL | SECRETION | EXPRESSION | Claudins - genetics | Renal Insufficiency - genetics | Epithelial Cells - metabolism | Kidney - pathology | Cations - metabolism | Humans | Hypohidrosis | Renal Insufficiency - metabolism | Mutation, Missense | Permeability | Microscopy, Electron | Kidney - metabolism | Animals | Claudins - metabolism | Protein Isoforms - metabolism | Renal Insufficiency - pathology | Tight Junctions | Biological Transport - genetics | Mice | Protein Isoforms - genetics | Causes of | Genetic aspects | Hyperhidrosis | Genetic variation | Health aspects | Visualization | Biotechnology | Membranes | Laboratories | Funding | Syngeneic grafts | Glands | Science | Homeostasis | Selectivity | Proteins | Immunology | Missense mutation | Physiology | Magnesium | Sweat | Supervision | Kidneys | Tight junctions | Secretion | Reabsorption | Roles | Electron microscopy | Hereditary diseases | Resistance | Pathology | Intolerance | Isoforms | Plasma membranes | Renal failure | Software | Cations | Genetic engineering | Conductance | Mutation | Three dimensional models | Hyperparathyroidism | Kidney transplantation | Index Medicus | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2017, Volume 25, Issue 7, pp. 848 - 853
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 3012 - 16
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2014, Volume 22, Issue 10, pp. 1180 - 1184
Journal Article