A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies

Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which animal models such as Drosophila can provide a valuable aid. He...

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Veröffentlicht in:	PLoS genetics 2018-05, Vol.14 (5), p.e1007386-e1007386
Hauptverfasser:	Gonçalves, Sara, Patat, Julie, Guida, Maria Clara, Lachaussée, Noelle, Arrondel, Christelle, Helmstädter, Martin, Boyer, Olivia, Gribouval, Olivier, Gubler, Marie-Claire, Mollet, Geraldine, Rio, Marlène, Charbit, Marina, Bole-Feysot, Christine, Nitschke, Patrick, Huber, Tobias B, Wheeler, Patricia G, Haynes, Devon, Juusola, Jane, Billette de Villemeur, Thierry, Nava, Caroline, Afenjar, Alexandra, Keren, Boris, Bodmer, Rolf, Antignac, Corinne, Simons, Matias
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple Abnormalities, Multiple - genetics Acetyltransferase Adducin Adolescent Adult Alzheimer's disease Animal models Animals Biology Biology and Life Sciences Calmodulin-Binding Proteins Calmodulin-Binding Proteins - deficiency Calmodulin-Binding Proteins - genetics Cardiomyocytes Cardiomyopathy Cataracts Cell Line Cells, Cultured Coronary artery disease DNA Mutational Analysis Drosophila Drosophila - genetics Drosophila Proteins Drosophila Proteins - genetics Female Fibroblasts Funding Gene expression Genetics Genomics Health aspects Heart Diseases Heart Diseases - genetics Homozygote Humans Kidney diseases Kidney Failure, Chronic Kidney Failure, Chronic - genetics Kidneys Laboratories Life Sciences Lysine Male Medicine Medicine and Health Sciences Microencephaly Mutation Nephrology Nephrotic syndrome p300-CBP Transcription Factors p300-CBP Transcription Factors - genetics Palmer, Arnold Pediatrics Pedigree Phenotype Phenotypes Physical Sciences Point mutation Research and Analysis Methods Supervision
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