Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/27196
Title: Cri-du-Chat Syndrome interactome network: Correlating genotypic variations to associated phenotypes
Authors: LEITE, Giuseppe Gianini FigueiredoAZEVEDO, HatylasOLIVEIRA, Talita Mendes deFURTADO, Danielle Zildeana SousaASSUNCAO, Nilson Antonio
Citation: GENE REPORTS, v.11, p.179-187, 2018
Abstract: Cri-du-Chat Syndrome (CDCS) is a rare genetic disorder caused by the partial deletion of the chromosome 5 short arm (5p-) that results in morpho-physiological abnormalities. This study reports a network view of the genes from this deleted region for understanding disease phenotypes and the corresponding genotype variants. Of the 79 genes present in the 5p-region, 69 genes with known interactions were used as seeds in a network containing 1359 nodes and 6831 edges; most of the genes are encoded by chromosome 1. The nodes with high degree and betweenness centralities (key nodes) - 12 from the 5p-region and 3 from other chromosomes - were selected for functional enrichment analysis. Gene ontology analysis of these nodes revealed potential changes in metabolic and catalytic processes that may be associated with the syndrome phenotypes. Overall, these results show a network view of 5prelated genes and reveal potential related functions that may lead to known symptoms in CDCS patients.
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Artigos e Materiais de Revistas Científicas - LIM/36
LIM/36 - Laboratório de Pediatria Clínica


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