CEGH-CEL - Centro de Estudos do Genoma Humano e de Células-Tronco

• Processo: 13/08028-1
• Modalidade de apoio: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs
• Vigência: 01 de julho de 2013 - 30 de junho de 2025
• Área do conhecimento: Ciências Biológicas - Genética - Genética Humana e Médica
• Pesquisador responsável: Mayana Zatz
• Beneficiário: Mayana Zatz
• Instituição Sede: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brasil
• Pesquisadores principais:( Atuais ): Ana Cristina Victorino Krepischi ; Eliana Maria Beluzzo Dessen ; Ésper Abrão Cavalheiro ; Maria Rita dos Santos e Passos Bueno ; Mariz Vainzof ; Merari de Fátima Ramires Ferrari ; Oswaldo Keith Okamoto ; Regina Célia Mingroni Netto
• Pesquisadores principais:( Anteriores ): Angela Maria Vianna Morgante ; Carla Rosenberg ; Celia Priszkulnik Koiffmann ; Peter Lees Pearson
• Pesquisadores associados: Ana Cristina Victorino Krepischi ; Angela Maria Vianna Morgante ; Carlos Frederico Martins Menck ; Celia Priszkulnik Koiffmann ; David Schlesinger ; Débora Romeo Bertola ; Edson Amaro Junior ; Fernando Kok ; Joao Paulo Fumio Whitaker Kitajima ; Jorge Elias Kalil Filho ; Luciana Amaral Haddad ; Luis Eduardo Soares Netto ; Maria Dulcetti Vibranovski ; Maria Lúcia Lebrão ; Merari de Fátima Ramires Ferrari ; Miguel Mitne Neto ; Nivaldo Alonso ; Peter Lees Pearson ; Rita de Cássia Mingroni Pavanello ; Tatiana Teixeira Torres ; Valdemir Melechco Carvalho ; Venancio Avancini Ferreira Alves ; Verônica Porto Carreiro de Vasconcellos Coelho ; Yeda Aparecida de Oliveira Duarte
• Auxílios(s) vinculado(s): 22/11064-9 - Aplicação de Hi-C técnica e ferramentas de machine-learning para detecção e interpretação clínica de variantes genômicas em doenças genéticas raras, AV.EXT; 22/03787-0 - EMU concedido no processo FAPESP 13/08028-1 - Mayana Zatz: Citômetro de Fluxo BD FACSymphony", AP.EMU; 22/04037-5 - EMU concedido no projeto 13/08028-1: Chromium de Expressão Gênica de Single Cell, AP.EMU; + mais auxílios vinculados 20/05949-2 - Diagnóstico molecular rápido, eficaz e de baixo custo do COVID-19 e estratégias para testagem populacional em larga escala, AP.R; 19/05654-5 - Análise de perda de sequências de DNA satélite do tipo alfoide em regiões centroméricas na população geral e em tumores pediátricos, AV.EXT; 16/50021-2 - Cancer stem cell interactome mapping, AP.R SPRINT; 14/20796-7 - Synaptopathies in neurodevelopmental disorders: SHANK mutations as a window into synaptic function, AR.EXT - menos auxílios vinculados
• Bolsa(s) vinculada(s): 24/05832-9 - Ampliação dos serviços de sequenciamento NGS oferecidos pela facility multiusuário FAPESP/USP do Centro de Estudo do Genoma Humano e Células-Tronco (CEGH-CEL)., BP.TT; 23/14401-9 - Avaliação do processo regenerativo com a progressão da distrofia muscular no modelo murino dy2J, deficiente na subunidade a2-laminina., BP.IC; 23/14178-8 - Indução do fenótipo de resistência à quimioterapia após tratamento prolongado de organoides de glioblastoma com Temozolomida, BP.IC; + mais bolsas vinculadas 23/07376-8 - Avaliação do potencial terapêutico de modificações em Notch3 em camundongos mdx e porcos DMD, BP.DR; 23/02551-6 - Efeito da deficiência de TBCK, responsável pela Síndrome Neurodegenerativa IHPRF3, sobre o processo de neurodiferenciação, BP.DD; 23/08741-1 - Análise fenotípica de linhagens celulares derivadas de células-tronco., BP.TT; 23/08976-9 - Estabelecimento de organoides corticais para investigação de doenças genéticas de neurodesenvolvimento., BP.TT; 23/07800-4 - Análise de processo de degeneração/regeneração em modelos animais e pacientes com doenças neuromusculares, BP.TT; 23/09287-2 - Distrofias Musculares: Novas Estratégias Terapêuticas Baseadas em Mecanismos Protetores, BP.TT; 23/07400-6 - Análise comparativa de modelos animais de distrofia muscular - Histopatologia, localização de células satélites musculares e testes de força, BP.TT; 23/01887-0 - Investigação de mecanismos epigenéticos na etiologia do Transtorno do Espectro Autista em distrofinopatias, BP.DD; 23/02209-6 - Análise do efeito oncolítico do ZIKV em células de glioblastoma resistentes a temozolomida, BP.MS; 22/14114-7 - Análise comparativa de modelos animais de distrofia muscular - Histopatologia, localização de células satélites musculares e testes de força, BP.TT; 22/03980-5 - Estudo genômico e funcional de formas sindrômicas de deficiência intelectual, BP.PD; 22/14345-9 - Ampliação de diversidade biológica e redução de custos no sequenciamento genômico junto ao CEGH-CEL, BP.TT; 22/07972-7 - Inflamação materna como fator de risco para o desenvolvimento de fissura lábio-palatina em indivíduos com perda de função do gene CDH1, BP.MS; 22/14129-4 - Análise de possíveis genes modificadores de fenótipo da distrofia muscular, BP.TT; 22/05677-8 - Mecanismos moleculares causativos do Transtorno do Espectro Autista em pacientes com distrofinopatia, BP.DR; 22/02212-4 - Desenvolvimento de modelos in vitro de barreira hematoencefálica (BBB)-em-um-chip para estudar a atividade oncolítica do Vírus Zika e a permeabilidade de fármaco no tratamento do Câncer Cerebral, BP.PD; 22/04953-1 - Implementação e gerenciamento de uma solução para aplicações de bioinformática em Docker: monitoramento de usuários, custos e fluxos, BP.TT; 22/03577-6 - Implementação de pipelines/workflows na nuvem para análises de bioinformática dos dados genômicos do Centro de Estudos do Genoma Humano e de Células-Tronco (CEGH-CEL), BP.TT; 22/02463-7 - Análise da disferlina e a formação de seu tricomplexo proteico FAM65b-HDAC6-DYSF durante as diferentes fases da diferenciação muscular, BP.IC; 22/02649-3 - Análise da expressão das diferentes formas de miosina no processo de miogênese in vitro em modelos celulares para doenças neuromusculares, BP.IC; 22/01953-0 - Implementação de processos de bioinformática para análise de análise de sequenciamento de genoma completo e transcriptoma humanos, BP.TT; 21/04323-5 - Avaliação da expressão e atividade de EZH2 como fatores de susceptibilidade celular à infecção por Zika Vírus em tumores embrionários do sistema nervoso central, BP.PD; 21/00689-5 - Desenvolvimento de receptor quimérico de antígeno tumoral com aplicação no tratamento de glioblastoma, BP.MS; 20/11495-4 - Investigação de variantes de risco em pacientes com o Transtorno do Espectro Autista, BP.IC; 20/08189-9 - Caracterização in vitro do estado redox e da expressão de TCOF1 durante o desenvolvimento craniofacial humano, BP.IC; 19/21290-3 - Desenvolvimento de banco de dados de variantes genéticas DesBraVar (Depósito de Sequencias Brasileiras e Variantes), BP.TT; 19/19998-8 - Desenvolvimento de pipeline para análise de copy number variation (CNVs), BP.TT; 19/20768-7 - Desenvolvimento e implementação de ferramentas para processamento de dados NGS e de bancos de dados para análise e armazenamento de variantes genéticas, BP.TT; 19/18469-1 - Desenvolvimento de organoides hepáticos universais produzidos a partir de células IPS, BP.PD; 18/08486-3 - Investigação das bases genéticas da Obesidade Sindrômica e de mecanismos moleculares relacionados à sua fisiopatologia, BP.DR; 18/20373-0 - Caracterização do interatoma proteico do fator de pluripotência L1TD1 em células-tronco tumorais e normais do sistema nervoso central, BP.IC; 18/05961-2 - Identificação variantes genéticas relacionadas à predisposição a câncer em coorte de pacientes com tumores embrionários e tumores pediátricos com sinais clínicos adicionais, BP.PD; 16/14517-3 - Identificação de variantes/mecanismos protetores em indivíduos com mutação patogênica no gene SPAST assintomáticos ou levemente afetados, BP.PD; 17/16283-2 - Desenvolvimento de técnicas de bioengenharia de tecidos para a reconstrução funcional, ex vivo, de fígados, a partir de células iPSCs, BP.PD; 17/11430-7 - Interação de fatores genéticos e epigenéticos em resposta à inflamação na predisposição às fissuras lábio-palatinas, BP.PD; 17/05824-2 - Investigação de alterações de novo de risco em país de pacientes com o Transtorno do Espectro Autista, BP.DR; 16/23648-4 - Investigação da relevância etiológica de novos genes candidatos às fissuras orofaciais, BP.PD; 16/24188-7 - Modelagem da síndrome de Richieri-Costa-Pereira com uso de células-tronco pluripotentes induzidas, BP.PD; 16/17392-7 - Estudo de associação de variantes raras em genes candidatos à fissuras orofaciais na população brasileira, BP.DR; 15/18914-4 - Estudo do potencial regenerativo das células satélite na miopatia centronuclear e a capacidade miogênica de suas microvesículas liberadas, BP.DR; 15/19435-2 - Avaliação terapêutica de imunoglobulina G humana em modelo murinho para Distrofia Muscular de Duchenne, BP.IC; 15/14821-1 - Desenvolvimento de by-pass vascular hepático funcionalizado com células humanas derivadas de iPSCs, BP.DR; 15/18130-3 - Análise da via autofágica no músculo distrófico, BP.MS; 15/08563-0 - Regulação da DYRK1A pôr microRNAs em cultura de neurônios do hipocampo de camundongos modelo da trissomia do cromossomo 21 humano e sua relação com a Doença de Alzheimer, BP.IC; 14/23043-0 - Identificação de miRNAs com função crítica em neurogênese e oncogênese, BP.PD; 15/06786-1 - Estresse do retículo endoplasmático e expressão da VAPB e Rab1 em cultura de neurônios motores de camundongos modelo da Esclerose Lateral Amiotrófica, BP.IC; 14/24541-3 - Emprego de fusões com GFP para análise dos mecanismos da toxicidade da proteína humana VAPB expressa em Saccharomyces cerevisiae, BP.IC; 14/17132-0 - Uso de Next Generation Sequencing na avaliação de cariótipos com número variável de cópias do cromossomo X, BP.PD; 14/13056-7 - Caracterização de INDELs e CNVs pequenos em pacientes com transtorno do espectro autista, BP.MS; 14/10519-6 - Via de sinalização hippo e divisão assimétrica de células-tronco tumorais derivadas de meduloblastoma humano, BP.PD; 13/14996-0 - Detecção de doenças genéticas fetais através de teste pré-natal não invasivo utilizando sequenciamento de nova geração, BP.DR; 12/09950-9 - Evolução de genes HLA: diferenciação populacional e sinais de seleção recente em populações nativas e miscigenadas do Brasil, BP.PD; 12/50154-1 - Identificação de proteínas ligantes da conexina 26, BP.PD; 11/50856-3 - Papel do microambiente celular nos mecanismos moleculares de resistência a quimioterápicos em modelo de carcinoma mamário humano, BP.PD; 11/50595-5 - Investigação de novos genes de susceptibilidade à hipertensão essencial em afro-brasileiros, BP.PD; 09/52523-1 - Obesidade sindrômica: pesquisa de genes e segmentos cromossômicos associados à obesidade, descrição de novas síndromes e da variabilidade fenotípica em síndromes reconhecidas, BP.PD - menos bolsas vinculadas
• Assunto(s): Células-tronco Envelhecimento Doenças genéticas Doenças neurodegenerativas Financiamento em saúde
• Palavra(s)-Chave do Pesquisador: Células-tronco | Doenças Complexas | doenças genéticas | Estudos populacionais | Genética do Desenvolvimento | genética do envelhecimento | Genética Humana e Médica
• Publicação FAPESP: https://media.fapesp.br/bv/uploads/pdfs/Multidisciplinary_science_4n3O6fa_30_31.pdf

Resumo

O Centro de Estudos do Genoma Humano (CEGH-CEPID I) foi estabelecido em 2000 com o objetivo principal de ampliar conhecimentos básicos sobre as doenças genéticas prevalentes na população brasileira e possibilitar o diagnóstico de doenças genéticas. O CEGH concentrou-se basicamente em doenças Mendelianas, principalmente neuromusculares, craniofaciais e deficiência mental. Em 2005, as pesquisas foram expandidas com a introdução do estudo de células-tronco como ferramenta para entender a expressão gênica e a diferenciação nas doenças genéticas e avaliar o seu potencial terapêutico. Além disso, abordamos aspectos da regulação da expressão gênica em distúrbios complexos, tais como autismo e várias doenças neurodegenerativas. Entretanto, a complexidade desses mecanismos evidenciada pelo Projeto Genoma Humano e os modestos avanços na medicina translacional abriram novos campos de investigação. Para o CEPID, expandimos o escopo científico com a inclusão do estudo do envelhecimento, de doenças degenerativas e de fatores como a instabilidade genômica que podem contribuir para esses processos; o papel do mecanismo de imprinting na manifestação de doenças; quais fatores determinam as diferenças individuais na degeneração cerebral, o que constitui um crescente ônus à saúde pública com o aumento da expectativa de vida da população mundial; e, o que determina a variabilidade fenotípica entre indivíduos portadores da mesma mutação. Para investigar essas questões, usaremos métodos atualizados, como sequenciadores de segunda geração e aparelhos sofisticados de isolamento de células, interagiremos com pesquisadores especialistas em suas áreas, otimizaremos a sinergia entre os grupos e também colaborações nacionais e internacionais. A proposta também enfoca a medicina translacional visando à tradução do conhecimento, principalmente na aplicação de células troncos em estudos pré-clínicos e testes terapêuticos para algumas doenças específicas. O grande número de pacientes atendidos e registrados no nosso centro - o maior da América Latina - e a variabilidade étnica da população brasileira proporcionam uma base extremamente rica para esses estudos. Acreditamos que o conhecimento gerado pelo CEPID 11 terá um grande impacto na qualidade da assistência às doenças genéticas no Brasil. Entretanto, um projeto tão ambicioso e integrado só pode ser realizado mediante a flexibilidade e a segurança de longo prazo, possibilitados pelo financiamento CEPID/FAPESP. (AU)

Publicações científicas

(230)

(Referências obtidas automaticamente do Web of Science e do SciELO, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores)

VILLELA, DARINE; RAMALHO, RODRIGO F.; SILVA, ADERBAL R. T.; BRENTANI, HELENA; SUEMOTO, CLAUDIA K.; PASQUALUCCI, CARLOS AUGUSTO; GRINBERG, LEA T.; KREPISCHI, ANA C. V.; ROSENBERG, CARLA. Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer's Disease Individuals. NEURAL PLASTICITY, 2016. (09/00898-1, 10/15503-0, 13/08028-1)

BATISSOCO, ANA C.; SALAZAR-SILVA, RODRIGO; OITICICA, JEANNE; BENTO, RICARDO F.; MINGRONI-NETTO, REGINA C.; HADDAD, LUCIANA A.. A Cell Junctional Protein Network Associated with Connexin-26. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v. 19, n. 9, SEP 2018. (12/50154-1, 13/08028-1)

KIMURA, LILIAN; NUNES, KELLY; INES MACEDO-SOUZA, LUCIA; ROCHA, JORGE; MEYER, DIOGO; MINGRONI-NETTO, REGINA CELIA. Inferring paternal history of rural African-derived Brazilian populations from Y chromosomes. AMERICAN JOURNAL OF HUMAN BIOLOGY, v. 29, n. 2, SI, MAR-APR 2017. (11/50595-5, 98/14254-2, 12/18010-0, 12/09950-9, 13/08028-1)

GRIESI-OLIVEIRA, K.; FOGO, M. S.; PINTO, B. G. G.; ALVES, A. Y.; SUZUKI, A. M.; MORALES, A. G.; EZQUINA, S.; SOSA, O. J.; SUTTON, G. J.; SUNAGA-FRANZE, D. Y.; et al. Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder. MOLECULAR PSYCHIATRY, FEB 2020. (14/10068-4, 16/50324-5, 13/08028-1)

VILLELA, DARINE; SUEMOTO, CLAUDIA K.; LEITE, RENATA; PASQUALUCCI, CARLOS AUGUSTO; GRINBERG, LEA T.; PEARSON, PETER; ROSENBERG, CARLA. Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain. NEURAL PLASTICITY, 2018. (14/17132-0, 13/08028-1)

MALCHER, CAROLINA; YAMAMOTO, GUILHERME L.; BURNHAM, PHILIP; EZQUINA, SUZANA A. M.; LOURENCO, V, NAILA C.; BALKASSMI, SAHILLA; MARCO ANTONIO, DAVID S.; HSIA, GABRIELLA S. P.; GOLLOP, THOMAZ; PAVANELLO, RITA C.; et al. Development of a comprehensive noninvasive prenatal test. GENETICS AND MOLECULAR BIOLOGY, v. 41, n. 3, p. 545-554, JUL-SEP 2018. (15/11998-8, 13/14996-0, 13/08028-1)

CARDOSO, FABRIZIO DOS SANTOS; DE SOUZA OLIVEIRA TAVARES, CRISTIANE; ARAUJO, BRUNO HENRIQUE SILVA; MANSUR, FERNANDA; LOPES-MARTINS, RODRIGO ALVARO BRANDAO; GOMES DA SILVA, SERGIO. Improved Spatial Memory And Neuroinflammatory Profile Changes in Aged Rats Submitted to Photobiomodulation Therapy. Cellular and Molecular Neurobiology, MAR 2021. (13/08028-1, 17/16443-0)

KAID, CAROLINI; SILVA, PATRICIA B. G.; CORTEZ, BEATRIZ A.; RODINI, CAROLINA O.; SEMEDO-KURIKI, PATRICIA; OKAMOTO, OSWALDO K.. miR-367 promotes proliferation and stem-like traits in medulloblastoma cells. Cancer Science, v. 106, n. 9, p. 1188-1195, SEP 2015. (14/10519-6, 11/10001-9, 10/52686-5, 13/02983-1, 13/08028-1, 13/17566-7)

CASTRO, L. P.; SAHBATOU, M.; KEHDY, F. S. G.; FARIAS, A. A.; YURCHENKO, A. A.; DE SOUZA, T. A.; ROSA, R. C. A.; MENDES-JUNIOR, C. T.; BORDA, V; MUNFORD, V; et al. The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil. MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS, v. 852, n. SI, APR 2020. (14/15982-6, 13/08028-1)

FIGUEIREDO, T.; MENDES, A.; KOBAYASHI, G.; MOREIRA, D.; OLIVEIRA, D.; GOULART, E.; STERN, S.; KOK, F.; MARCHETTO, M.; SANTOS, R.; et al. Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis. European Journal of Human Genetics, v. 28, n. SUPPL 1, p. 1-pg., 2020-12-01. (13/08028-1, 14/50931-3, 16/09618-5, 17/19877-0)

OLIVEIRA, DANYLLO; VERJOVSKI-ALMEIDA, SERGIO; ZATZ, MAYANA. Phenotypic heterogeneity in amyotrophic lateral sclerosis type 8 and modifying mechanisms of neurodegeneration. NEURAL REGENERATION RESEARCH, v. 16, n. 9, p. 3-pg., 2021-09-01. (13/08028-1, 15/14821-1, 17/16283-2)

ANA CARLA BATISSOCO; DAYANE BERNARDINO CRUZ; THIAGO GERONIMO PIRES ALEGRIA; GERSON KOBAYASHI; JEANNE OITICICA; LUIS EDUARDO SOARES NETTO; MARIA RITA PASSOS-BUENO; LUCIANA AMARAL HADDAD; REGINA CÉLIA MINGRONI NETTO. GJB2 c.35del variant up-regulates GJA1 gene expression and affects differentiation of human stem cells. GENETICS AND MOLECULAR BIOLOGY, v. 47, n. 2, 2024-04-15. (13/08028-1)

ALTMUELLER, FRANZISKA; LISSEWSKI, CHRISTINA; BERTOLA, DEBORA; FLEX, ELISABETTA; STARK, ZORNITZA; SPRANGER, STEPHANIE; BAYNAM, GARETH; BUSCARILLI, MICHELLE; DYACK, SARAH; GILLIS, JANE; et al. Genotype and phenotype spectrum of NRAS germline variants. European Journal of Human Genetics, v. 25, n. 7, p. 823-831, JUN 2017. (13/08028-1, 11/17299-3)

NONOSE, RENATA WATANABE; LEZIROVITZ, KARINA; BALESTER DE MELLO AURICCHIO, MARIA TERESA; BATISSOCO, ANA CARLA; YAMAMOTO, GUILHERME LOPES; MINGRONI-NETTO, REGINA CELIA. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects. BMC MEDICAL GENETICS, v. 19, MAY 8 2018. (13/08028-1)

MEHRJOUY, MANA M.; FONSECA, ANA CAROLINA S.; EHMKE, NADJA; PASKULIN, GIORGIO; NOVELLI, ANTONIO; BENEDICENTI, FRANCESCO; MENCARELLI, MARIA ANTONIETTA; RENIERI, ALESSANDRA; BUSA, TIFFANY; MISSIRIAN, CHANTAL; et al. Regulatory variants of FOXG1 in the context of its topological domain organisation. European Journal of Human Genetics, v. 26, n. 2, p. 186-196, FEB 2018. (11/14293-4, 13/08028-1, 13/01146-9)

DE OLIVEIRA, JULIANA FERREIRA; VITAL DO PRADO, PAULA FAVORETTI; DA COSTA, SILVIA SOUZA; SFORCA, MAURICIO LUIS; CANATELI, CAMILA; RANZANI, AMERICO TAVARES; MASCHIETTO, MARIANA; LOPES DE OLIVEIRA, PAULO SERGIO; OTTO, PAULO A.; KLEVIT, RACHEL E.; et al. Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability. Nature Chemical Biology, v. 15, n. 1, p. 62+, JAN 2019. (12/50981-5, 13/08028-1, 15/06281-7)

PEREIRA, LARISSA VILELA; BENTO, RICARDO FERREIRA; CRUZ, DAYANE B.; MARCHI, CLAUDIA; SALOMONE, RAQUEL; OITICICCA, JEANNE; COSTA, MARCIO PAULINO; HADDAD, LUCIANA A.; MINGRONI-NETTO, REGINA CELIA; ZABEU ROSSI COSTA, HELOISA JULIANA. Stem Cells from Human Exfoliated Deciduous Teeth (SHED) Differentiate in vivo and Promote Facial Nerve Regeneration. CELL TRANSPLANTATION, v. 28, n. 1, p. 55-64, JAN 2019. (14/18764-0, 13/08028-1)

VIEIRA, NATASSIA M.; ELVERS, INGEGERD; ALEXANDER, MATTHEW S.; MOREIRA, YURI B.; ERAN, ALAL; GOMES, JULIANA P.; MARSHALL, JAMIE L.; KARLSSON, ELINOR K.; VERJOVSKI-ALMEIDA, SERGIO; LINDBLAD-TOH, KERSTIN; et al. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell, v. 163, n. 5, p. 1204-1213, NOV 19 2015. (13/08028-1)

HOMMA, THAIS K.; KREPISCHI, ANA C. V.; FURUYA, TATIANE K.; HONJO, RACHEL S.; MALAQUIAS, ALEXSANDRA C.; BERTOLA, DEBORA R.; COSTA, SILVIA S.; CANTON, ANA P.; ROELA, ROSIMEIRE A.; FREIRE, BRUNA L.; et al. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, v. 89, n. 1, p. 13-21, 2018. (15/26980-7, 09/00898-1, 13/03236-5, 13/08028-1)

WHITE, JANSON J.; MAZZEU, JULIANA F.; COBAN-AKDEMIR, ZEYNEP; BAYRAM, YAVUZ; BAHRAMBEIGI, VAHID; HOISCHEN, ALEXANDER; VAN BON, BREGJE W. M.; GEZDIRICI, ALPER; GULEC, ELIF YILMAZ; RAMOND, FRANCIS; et al. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. American Journal of Human Genetics, v. 102, n. 1, p. 27-43, JAN 4 2018. (13/08028-1)

MELO, KARLA P.; SILVA, CAROLLINY M.; ALMEIDA, MICHAEL F.; CHAVES, RODRIGO S.; MARCOURAKIS, TANIA; CARDOSO, SANDRA M.; DEMASI, MARILENE; NETTO, LUIS E. S.; FERRARI, MERARI F. R.. Mild Exercise Differently Affects Proteostasis and Oxidative Stress on Motor Areas During Neurodegeneration: A Comparative Study of Three Treadmill Running Protocols. NEUROTOXICITY RESEARCH, v. 35, n. 2, p. 410-420, FEB 2019. (13/08028-1, 15/18961-2, 11/06434-7, 11/15281-0, 11/15283-2, 17/14273-0, 11/00478-2)

QUINET, ANNABEL; MARTINS, DAVI JARDIM; VESSONI, ALEXANDRE TEIXEIRA; BIARD, DENIS; SARASIN, ALAIN; STARY, ANNE; MARTINS MENCK, CARLOS FREDERICO. Translesion synthesis mechanisms depend on the nature of DNA damage in UV-irradiated human cells. Nucleic Acids Research, v. 44, n. 12, p. 5717-5731, JUL 8 2016. (14/15982-6, 13/08028-1)

GOMES, LUCIANA R.; VESSONI, ALEXANDRE T.; MENCK, CARLOS F. M.. Microenvironment and autophagy cross-talk: Implications in cancer therapy. PHARMACOLOGICAL RESEARCH, v. 107, p. 300-307, MAY 2016. (14/15982-6, 13/08028-1)

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