Maria Rita Passos-Bueno
Maria Rita Passos-Bueno
Graduated in Biological Sciences by University of São Paulo (1980), PhD (1987) in Life Sciences, Genetics by University of São Paulo (USP) and pos-doctorade on molecular genetics applied to human genetics (1988) at University of São Paulo (USP) and at Oxford University. Started as an associate professor at Departament of Genetics and Evolutive Biology in 1990 and became a full professor at this Department in 2007. She is head of the research lab of Human Development Genetics and coordinates the area of Transfer of Technology at the Human Genome Center, Institute of Biosciences, USP. She was head of the Department of Genetics from 2009-2013. She received the award “Ordem Nacional de Grã-Cruz de Mérito Científico” of the federal government of Brazil.
Her main focus is to understand the genetics of complex disorders. The disease models under investigation are non syndromic cleft lip and palate (CLP) and autism spectrum disorders. A recent interest in her lab is to understand RNA metabolism in tissue development. Her lab also participates in stem cell research aiming to reconstruct bone defects. She has published more than 200 papers in peer reviewed journals.
She also coordinates the genetic counselling service on craniofacial disorders and autism spectrum disorders and coordinates the genetic molecular services (sequencing and molecular genetic testing on several diseases) at the Human genome center.
10 Favourite publications
- Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M.(1996). Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum. Mol. Genet., 5: 815-820.
- Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE (2000) Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 24: 163-166.
- Sertié AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR 2000. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closuse (Knobloch syndrome). Hum Mol Genet, 9:2051-2058.
- Suzuki OT, Sertié AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, Czeizel AE , Monteiro M, Olsen BR, Passos-Bueno MR. 2002. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform and possible genetic heterogeneity in Knobloch syndrome. Am J Hum Genet, 71:1320-1329.
- FanganielloRD, Sertié AL, Reis EM, Oliveira NAJ, Yeh E, Bueno DF,Kerkis I, Alonso N, Cavalheiro S, Matsushita H, Freitas R, Verjovski-AlmeidaS, Passos-Bueno MR. Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells. Molecular Medicine, 2007 Jul-Aug;13(7-8):422-4.
- Kague E, Bessling SL, Lee J, Hu G, Passos-Bueno MR, Fisher S..Functionally conserved cis-regulatory elements of COL18A1 indentified through zebrafish transgenesis. Dev Biol. 2010, 337(2): 496-505.
- Brito, Luciano A. ; Cruz, Lucas A. ; Rocha, Kátia M. ; Barbara, Ligia K. ; Silva, Camila B.F. ; Bueno, Daniela F. ; Aguena, Meire ; Bertola, Débora R. ; Franco, Diogo ; Costa, André M. ; Alonso, Nivaldo ; Otto, Paulo A. ; Passos-Bueno, Maria Rita . Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies. American Journal of Medical Genetics. Part A, v. 155, p. 1581-1587, 2011.
- Yeh, Erika; Fanganiello, Roberto D. ; Sunaga, Daniele Y. ; Zhou, Xueyan ; Holmes, Gregoary ; Rocha, Katia M. ; Alonso, Nivaldo ; Matushita, Hamilton ; Wang, Yingli ; Jabs, Ethylin W. ; Passos-Bueno, Maria Rita . Novel Molecular Pathways Elicited by Mutant FGFR2 May Account for Brain Abnormalities in Apert Syndrome. Plos One, v. 8, p. e60439, 2013.
- Griesi-Oliveira K, Sunaga DY, Alvizi L, Vadasz E, Passos-Bueno MR. Stem cells as a good tool to investigate dysregulated biological systems in autism spectrum disorders. Autism Res. 2013 Jun 25. doi: 10.1002/aur.1296. [Epub ahead of print]
- Kobayashi GS, Alvizi L, Sunaga DY, Francis-Wst P, Kuta A, Alamada BBP, Ferreira SG, Andrade-Lima LC, Bueno DF, Raposo-Amaral C, Menck CF, Passos-Bueno MR. Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and and palate. Plos One, in press, 2013.