Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

BackgroundMicroRNAs (miRNAs) are non-coding gene transcripts involved in post-transcriptional regulation of genes. Recent studies identified miRNAs as important regulators of learning and memory in model organisms. So far, no mutations in specific miRNA genes have been associated with impaired cogni...

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Veröffentlicht in:	Journal of medical genetics 2011-12, Vol.48 (12), p.810-818
Hauptverfasser:	Willemsen, Marjolein H, Vallès, Astrid, Kirkels, Laurens A M H, Mastebroek, Mathilde, Olde Loohuis, Nikkie, Kos, Aron, Wissink-Lindhout, Willemijn M, de Brouwer, Arjan P M, Nillesen, Willy M, Pfundt, Rolph, Holder-Espinasse, Muriel, Vallée, Louis, Andrieux, Joris, Coppens-Hofman, Marjolein C, Rensen, Hanneke, Hamel, Ben C J, van Bokhoven, Hans, Aschrafi, Armaz, Kleefstra, Tjitske
Format:	Artikel
Sprache:	eng
Schlagworte:	1p21.3 microdeletion academic medicine Adolescent Adult Animals Brain chromosomal Chromosome Deletion Chromosomes, Human, Pair 1 - genetics Chromosomes, Human, Pair 1 - metabolism clinical genetics Cognitive ability copy-number cytogenetics Dehydrogenases diagnostics Dihydrouracil Dehydrogenase (NADP) - genetics Dihydrouracil Dehydrogenase (NADP) - metabolism DNA Copy Number Variations DNA-Binding Proteins - genetics DNA-Binding Proteins - metabolism Enhancer of Zeste Homolog 2 Protein Female Gene Dosage Gene Expression Regulation genetic screening/counselling genetics Genomes Hippocampus - cytology Hippocampus - metabolism Hippocampus - pathology Humans hydrocephalus Intellectual disabilities intellectual disability Intellectual Disability - genetics Intellectual Disability - metabolism Intellectual Disability - pathology Kruppel-Like Transcription Factors - genetics Kruppel-Like Transcription Factors - metabolism Male memory disorders Microphthalmia-Associated Transcription Factor - genetics Microphthalmia-Associated Transcription Factor - metabolism microrna microRNA-137 MicroRNAs MicroRNAs - genetics MicroRNAs - metabolism MIR137 molecular genetics neuromuscular disease Neurons - cytology Neurons - metabolism Neurons - pathology neurosciences Oligonucleotide Array Sequence Analysis Patients Phenotype Polycomb Repressive Complex 2 Polymorphism Polymorphism, Single Nucleotide Primary Cell Culture Rats synapse Transcription Factors - genetics Transcription Factors - metabolism Transfection
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