Data/hora: 17/06/2024 01:45:49

Provedor de dados: 	74	
País: 	Brazil	
Título: 	Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome	
Autores: 	Corrêa,Thiago; Feltes,Bruno César; Riegel,Mariluce.	
Data: 	2019-01-01	
Ano: 	2019	
Palavras-chave: 	Cri-du-Chat Syndrome; 5p– cytogenomics; Integrative Analysis; PPI; Systems biology.	
Resumo: 	Abstract Cri-du-chat syndrome (CdCs) is one of the most common contiguous gene syndromes, with an incidence of 1:15,000 to 1:50,000 live births. To better understand the etiology of CdCs at the molecular level, we investigated theprotein–protein interaction (PPI) network within the critical chromosomal region 5p15.3–p15.2 associated with CdCs using systemsbiology. Data were extracted from cytogenomic findings from patients with CdCs. Based on clinical findings, molecular characterization of chromosomal rearrangements, and systems biology data, we explored possible genotype–phenotype correlations involving biological processes connected with CdCs candidate genes. We identified biological processes involving genes previously found to be associated with CdCs, such as TERT, SLC6A3, and CTDNND2, as well as novel candidate proteins with potential contributions to CdCs phenotypes, including CCT5, TPPP, MED10, ADCY2, MTRR, CEP72, NDUFS6, and MRPL36. Although further functional analyses of these proteins are required, we identified candidate proteins for the development of new multi-target genetic editing tools to study CdCs. Further research may confirm those that are directly involved in the development of CdCs phenotypes and improve our understanding of CdCs-associated molecular mechanisms.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200186	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/1678-4685-gmb-2018-0173	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.42 n.1 suppl.1 2019	
Fonte: 	info:eu-repo/semantics/openAccess