MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

Deletions at chromosome 2p25.3 are associated with a syndrome consisting of intellectual disability and obesity. The smallest region of overlap for deletions at 2p25.3 contains PXDN and MYT1L. MYT1L is expressed only within the brain in humans. We hypothesized that single nucleotide variants (SNVs)...

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Veröffentlicht in:	PLoS genetics 2017-08, Vol.13 (8), p.e1006957
Hauptverfasser:	Blanchet, Patricia, Bebin, Martina, Bruet, Shaam, Cooper, Gregory M, Thompson, Michelle L, Duban-Bedu, Benedicte, Gerard, Benedicte, Piton, Amelie, Suckno, Sylvie, Deshpande, Charu, Clowes, Virginia, Vogt, Julie, Turnpenny, Peter, Williamson, Michael P, Alembik, Yves, Glasgow, Eric, McNeill, Alisdair
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Animals Autism Bioinformatics Biology and Life Sciences Biotechnology Brain research Cell Line Child Chromosome 19 Chromosome Deletion Chromosomes, Human, Pair 2 - genetics Clonal deletion Congenital diseases Consortia CRISPR CRISPR-Cas Systems Female Funding Gene deletion Gene expression Gene Expression Regulation - genetics Gene Knockout Techniques Genetics Genomes Genomics Hospitals Humans Hypothalamus Hypothalamus - metabolism Hypothalamus - pathology Hypothalamus - physiology Intellectual disabilities Intellectual Disability - genetics Intellectual Disability - physiopathology Male Medicine and Health Sciences Mutation Nerve Tissue Proteins - genetics Obesity Obesity - genetics Obesity - physiopathology Ontology Oxytocin Polymorphism, Single Nucleotide - genetics Research and Analysis Methods Rodents Social Sciences Transcription Factors - genetics Zebrafish
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