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In silico study of genetic mutations causing hereditary angioedema

Grant number: 14/20965-3
Support type:Scholarships in Brazil - Post-Doctorate
Effective date (Start): January 01, 2015
Field of knowledge:Biological Sciences - Biochemistry - Molecular Biology
Cooperation agreement: Coordination of Improvement of Higher Education Personnel (CAPES)
Principal Investigator:João Bosco Pesquero
Grantee:Renan Paulo Martin
Home Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
Associated research grant:14/27198-8 - Establishment of a center of genetic and molecular research for clinical challenges, AP.TEM
Associated scholarship(s):16/23364-6 - Whole exome sequencing of patients with hereditary angioedema of unknown etiology, BE.EP.PD


The studies of human genetics have been applied to better understand how differences of DNA sequence act on the natural physiology of each person triggering several genetic associated disorders to produce new treatment or prevention protocols. Based on the sequence of target genes involved on diagnosed disease it is possible to elucidate several control path of each mutation exert on its respective disease. Since this method provide many data, it is necessary the use of a computation analysis to interpolate the findings of each patient that led us to a better conclusion. Therefore, it is our interest to produce an analysis platform necessary to improve the collect data of each patient diagnosed with hereditary angioedema already studied by the group. Moreover it was already described several mutations on different components of this disease, thus it is necessary a deep approach on how those mutations affect the molecular function of each molecule, either protein or receptor molecules. Thus it is our interest to use molecular modeling and dynamics of nitric oxide synthase and B2 receptor, molecules involved on hereditary angioedema. All of these studies aims a better understanding of this disorder in order to provide a better diagnosis and a specific treatment to each diagnosed patient. (AU)

Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
G PROTEIN-COUPLED RECEPTORS, PT B. Web of Science Citations: 0.
MOTTA, FABIANA LOUISE; MARTIN, RENAN PAULO; FILIPPELLI-SILVA, RAFAEL; SALLES, MARIANA VALLIM; FERRAZ SALLUM, JULIANA MARIA. Relative frequency of inherited retinal dystrophies in Brazil. SCIENTIFIC REPORTS, v. 8, OCT 29 2018. Web of Science Citations: 0.
MARTIN, RENAN P.; FILIPPELLI-SILVA, RAFAEL; RODRIGUES, ELIETE S.; NAKAIE, CLOVIS R.; SHIMUTA, SUMA I. A fluorimetric binding assay for angiotensin II and kinin receptors. JOURNAL OF PHARMACOLOGICAL AND TOXICOLOGICAL METHODS, v. 79, p. 55-59, MAY-JUN 2016. Web of Science Citations: 0.

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