CEGH-CEL - Human Genome and Stem Cell Research Center

• Grant number: 13/08028-1
• Support type: Research Grants - Research, Innovation and Dissemination Centers - RIDC
• Duration: July 01, 2013 - June 30, 2024
• Field of knowledge: Biological Sciences - Genetics
• Principal Investigator: Mayana Zatz
• Grantee: Mayana Zatz
• Home Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Co-Principal Investigators: Ana Cristina Victorino Krepischi ; Angela Maria Vianna Morgante ; Carla Rosenberg ; Celia Priszkulnik Koiffmann ; Eliana Maria Beluzzo Dessen ; Ésper Abrão Cavalheiro ; Maria Rita dos Santos e Passos Bueno ; Mariz Vainzof ; Merari de Fátima Ramires Ferrari ; Oswaldo Keith Okamoto ; Peter Lees Pearson ; Regina Célia Mingroni Netto
• Assoc. researchers: 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
• Associated grant(s): 16/50021-2 - Cancer stem cell interactome mapping, AP.R; 14/20796-7 - Synaptopathies in neurodevelopmental disorders: SHANK mutations as a window into synaptic function, AR.EXT
• Associated scholarship(s): 18/08486-3 - Genetic bases of Syndromic Obesity and molecular mechanisms involved in its physiopathology, BP.DR; 18/20373-0 - Caracterization of the proteic interactoma of the pluripotency factor L1TD1 in central nervous system tumour stem cells and neural stem cells, BP.IC; 18/05961-2 - Identification of genetic variants related to cancer predisposition in cohort of patients with embryonal tumors or pediatric tumors and additional clinical signs, BP.PD; + associated scholarships 16/14517-3 - Search for "protective" modifying variants/mechanisms in asymptomatic or very mildly affected individuals with pathogenic mutation in SPAST gene, BP.PD; 17/16283-2 - Development of tissue bioengineering techniques for the functional reconstruction of ex vivo iPSC cell livers, BP.PD; 17/11430-7 - Interaction of genetic and epigenetic factors in response to inflammation for the predisposition to cleft lip-palate, BP.PD; 17/05824-2 - Investigation of parents de novo risk variants in Autism Spectrum Disorder (ASD), BP.DR; 16/23648-4 - Investigation of the etiological relevance of novel candidate genes to orofacial clefts, BP.PD; 16/17392-7 - Association study of rare variants in candidate genes for orofacial clefts in the brazilian population, BP.DR; 15/18914-4 - Study of the regenerative potential of satellite cells in centronuclear myopathy and myogenic capacity of its released microvesicles, BP.DR; 15/19435-2 - Therapeutic analysis of human immunoglobulin g in a mouse model for Duchenne Muscular Dystrophy, BP.IC; 15/14821-1 - Development of functional hepatic by-pass using iPSCs derived cells, BP.DR; 15/18130-3 - Analysis of the autophagic pathway in the dystrophic muscle, BP.MS; 14/23043-0 - Identification of miRNAs with critical function in neurogenesis and oncogenesis, BP.PD; 15/08563-0 - DYRK1A regulation by microRNAs in cultured neurons from the hippocampus of mice models of human trisomy 21 and its relation with Alzheimer's Disease, BP.IC; 15/06786-1 - Stress of endoplasmic reticulum and expression of VAPB and Rab1 in cultured motor neurons from a mouse model of amyotrophic lateral sclerosis, BP.IC; 14/24541-3 - Use of GFP fusions to analyze the mechanisms of toxicity of human VAPB expressed in Saccharomyces Cerevisiae, BP.IC; 14/17132-0 - Use of Next Generation Sequencing to study karyotypes with different number of X chromosome, BP.PD; 14/13056-7 - Characterization of INDELs and small CNVs in patients with autism spectrum disorder, BP.MS; 14/10519-6 - Hippo signaling pathway and asymmetric division of cancer stem cells derived from human medulloblastoma, BP.PD; 13/14996-0 - Detection of fetal genetic disorders through non-invasive prenatal testing using next-generation sequencing, BP.DR; 12/09950-9 - Evolution of HLA genes: population differentiation and signatures of recent selection in native and admixed populations from Brazil, BP.PD; 12/50154-1 - Identification of connexin 26 binding proteins, BP.PD - associated scholarships

Abstract

The Human Genome Research Center (HGRC-CEPID I) was initiated in 2000 with the main goal of increasing our basic knowledge and diagnosis of prevalent genetic diseases in the Brazilian population. The HGRC concentrated largely on Mendelian disorders, mainly neuromuscular, craniofacial, and mental disability. The scope was expanded in 2005 by incorporating stem-cell research, both as a tool to understand gene expression and differentiation in genetic disorders and to evaluate its potential in disease therapy. Our research has allowed us to address questions on the genetic regulation of particular complex disorders such as autism and various neurodegenerative diseases. However, the unanticipated complexity of the transcriptional mechanisms regulating gene expression in humans that emerged from the Human Genome Project, and the modest advances in improving the effectiveness of genetic health care have opened new fields of investigation. In this CEPID 11 application, we have expanded the scientific breadth to include ageing and degeneration and how factors such as genome instability contribute to the aging process; the role of imprinting mechanisms on disease manifestation; which factors determine differences in the rate of brain degeneration between individuals, which constitutes a rapidly increasing health care burdon as the average life-span of the world population rises; what determines phenotypic variability between individuals carrying the same mutation. To address these questions we will use up to date approaches, particularly the use of second generation sequencing and sophisticated cell sorting, incorporate a much broader base of scientific expertise, optimize inter-group synergy as well as national and international research collaboration. The plan also contributes to translational medicine mainly in the application of stem-cells in preclinical studies and therapeutic trials for particular genetic disorders. The great number of patients with different genetic disorders that have been ascertained and registered in our center, the largest one in Latin America, and the ethnic variability of the Brazilian population provides an extremely rich foundation for the proposed studies. We are positive that the knowledge gained from CEPID 11 will have an important impact on genetic health care in Brazil. However, such an ambitious and integrated program can only be expedited by the flexibility and long term security offered by CEPID funding. (AU)

Scientific publications

(84)

(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)

GUO, LONG; BERTOLA, DEBORA ROMEO; TAKANOHASHI, ASAKO; SAITO, ASUKA; SEGAWA, YUKO; YOKOTA, TAKANORI; ISHIBASHI, SATORU; NISHIDA, YOICHIRO; YAMAMOTO, GUILHERME LOPES; DA SILVA FRANCO, JOSE FRANCISCO; HONJO, RACHEL SAYURI; KIM, CHONG AE; MUSSO, CAMILA MANSO; TIMMONS, MARGARET; PIZZINO, AMY; TAFT, RYAN J.; LAJOIE, BRYAN; KNIGHT, MELANIE A.; FISCHBECK, KENNETH H.; SINGLETON, ANDREW B.; FERREIRA, CARLOS R.; WANG, ZHENG; YAN, LI; GARBERN, JAMES Y.; SIMSEK-KIPER, PELIN O.; OHASHI, HIROFUMI; ROBEY, PAMELA G.; BOYDE, ALAN; MATSUMOTO, NAOMICHI; MIYAKE, NORIKO; SPRANGER, JUERGEN; SCHIFFMANN, RAPHAEL; VANDERVER, ADELINE; NISHIMURA, GEN; DOS SANTOS PASSOS-BUENO, MARIA RITA; SIMONS, CAS; ISHIKAWA, KINYA; IKEGAWA, SHIRO. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. American Journal of Human Genetics, v. 104, n. 5, p. 925-935, MAY 2 2019. Web of Science Citations: 0.

DE SOUZA, DIEGO CLEMENTE; VAHIA DE ABREU, HENRIQUE DE LUCA; DE OLIVEIR, PEDRO VITORIANO; CAPELO, LUCIANE PORTAS; PASSOS-BUENO, MARIA RITA; CATALANI, LUIZ HENRIQUE. A fast degrading PLLA composite with a high content of functionalized octacalcium phosphate mineral phase induces stem cells differentiation. JOURNAL OF THE MECHANICAL BEHAVIOR OF BIOMEDICAL MATERIALS, v. 93, p. 93-104, MAY 2019. Web of Science Citations: 0.

BURRAGE, LINDSAY C.; REYNOLDS, JOHN J.; BARATANG, NISSAN VIDA; PHILLIPS, JENNIFER B.; WEGNER, JEREMY; MCFARQUHAR, ASHLEY; HIGGS, MARTIN R.; CHRISTIANSEN, AUDREY E.; LANZA, DENISE G.; SEAVITT, JOHN R.; JAIN, MAHIM; LI, XIAOHUI; PARRY, DAVID A.; RAMAN, VANDANA; CHITAYAT, DAVID; CHINN, IVAN K.; BERTUCH, ALISON A.; KARAVITI, LEFKOTHEA; SCHLESINGER, ALAN E.; EARL, DAWN; BAMSHAD, MICHAEL; SAVARIRAYAN, RAVI; DODDAPANENI, HARSHA; MUZNY, DONNA; JHANGIANI, SHALINI N.; ENG, CHRISTINE M.; GIBBS, RICHARD A.; BI, WEIMIN; EMRICK, LISA; ROSENFELD, JILL A.; POSTLETHWAIT, JOHN; WESTERFIELD, MONTE; DICKINSON, MARY E.; BEAUDET, ARTHUR L.; RANZA, EMMANUELLE; HUBER, CELINE; CORMIER-DAIRE, VALERIE; SHEN, WEI; MAO, RONG; HEANEY, JASON D.; ORANGE, I. JORDAN S.; BERTOLA, DEBORA; YAMAMOTO, GUILHERME L.; BARATELA, WAGNER AR; BUTLER, MERLIN G.; ALI, ASIM; ADELI, MEHDI; COHN, DANIEL H.; KRAKOW, DEBORAH; JACKSON, ANDREW P.; LEES, MELISSA; OFFIAH, AMAKA C.; CARLSTON, COLLEEN M.; CAREY, JOHN C.; STEWART, GRANT S.; BACINO, CARLOS A.; CAMPEAU, PHILIPPE M.; LEE, BRENDAN; MENDELIAN, UNIV WASHINGTON CTR; NETWORK, UNDIAGNOSED DIS. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American Journal of Human Genetics, v. 104, n. 3, p. 422-438, MAR 7 2019. Web of Science Citations: 0.

MOREIRA DIAS, ALEX MARCEL; LEZIROVITZ, KARINA; NICASTRO, FERNANDA STAVALE; MENDES, BEATRIZ C. A.; MINGRONI-NETTO, REGINA CELIA. Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans. JOURNAL OF HUMAN GENETICS, v. 64, n. 3, p. 257-260, MAR 2019. Web of Science Citations: 0.

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. Web of Science Citations: 0.

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.; VICTORINO KREPISCHI, ANA CRISTINA; ROSENBERG, CARLA; FRANCHINI, KLEBER GOMES. Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability. Nature Chemical Biology, v. 15, n. 1, p. 62+, JAN 2019. Web of Science Citations: 1.

MORENO, NATALIA CESTARI; MACHADO GARCIA, CAMILA CARRIAO; REILY ROCHA, CLARISSA RIBEIRO; MUNFORD, VERIDIANA; MARTINS MENCK, CARLOS FREDERICO. ATR/Chk1 Pathway is Activated by Oxidative Stress in Response to UVA Light in Human Xeroderma Pigmentosum Variant Cells. Photochemistry and Photobiology, v. 95, n. 1, p. 345-354, JAN 2019. Web of Science Citations: 1.

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. Web of Science Citations: 0.

ROMANELLI TAVARES, VANESSA L.; KAGUE, ERIKA; MUSSO, CAMILA M.; ALEGRIA, THIAGO G. P.; FREITAS, RENATO S.; BERTOLA, DEBORA R.; TWIGG, STEPHEN R. F.; PASSOS-BUENO, MARIA R. Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5 ` UTR of EFNB1. MOLECULAR SYNDROMOLOGY, v. 10, n. 1-2, p. 40-47, 2019. Web of Science Citations: 1.

MELO, THAIANY QUEVEDO; COPRAY, SJEF J. C. V. M.; FERRARI, MERARI F. R. Alpha-Synuclein Toxicity on Protein Quality Control, Mitochondria and Endoplasmic Reticulum. Neurochemical Research, v. 43, n. 12, p. 2212-2223, DEC 2018. Web of Science Citations: 0.

DE FARIAS, ALLYSSON ALLAN; NUNES, KELLY; LEMES, RENAN BARBOSA; MOURA, RONALD; FERNANDES, GUSTAVO RIBEIRO; MELO, UIRA SOUTO; ZATZ, MAYANA; KOK, FERNANDO; SANTOS, SILVANA. Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations. SCIENTIFIC REPORTS, v. 8, NOV 8 2018. Web of Science Citations: 0.

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. Web of Science Citations: 1.

DOS SANTOS, ALEXSANDRO; CAMPAGNARI, FRANCINE; VICTORINO KREPISCHI, ANA CRISTINA; RIBEIRO CAMARA, MARIA DE LOURDES; DE ARRUDA BRASIL, RITA DE CASSIA E.; VIEIRA, LIGIA; VIANNA-MORGANTE, ANGELA M.; OTTO, PAULO A.; PEARSON, PETER L.; ROSENBERG, CARLA. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion. Chromosome Research, v. 26, n. 3, p. 191-198, SEP 2018. Web of Science Citations: 0.

GOMES, JULIANA P.; COATTI, GIULIANA C.; VALADARES, MARCOS C.; ASSONI, AMANDA F.; PELATTI, MAYRA V.; SECCO, MARIANE; ZATZ, MAYANA. Human Adipose-Derived CD146(+) Stem Cells Increase Life Span of a Muscular Dystrophy Mouse Model More Efficiently than Mesenchymal Stromal Cells. DNA AND CELL BIOLOGY, v. 37, n. 9, p. 798-804, SEP 2018. Web of Science Citations: 0.

MELO, UIRA SOUTO; LEITE, FELIPE DE SOUZA; COSTA, SILVIA; ROSENBERG, CARLA; ZATZ, MAYANA. A fast method to reprogram and CRISPR/Cas9 gene editing from erythroblasts. STEM CELL RESEARCH, v. 31, p. 52-54, AUG 2018. Web of Science Citations: 1.

GRIESI-OLIVEIRA, KARINA; SUZUKI, ANGELA MAY; ALVES, ALINE YASUDA; CINTRA NUNES MAFRA, ANA CAROLINA; YAMAMOTO, GUILHERME LOPES; EZQUINA, SUZANA; MAGALHAES, YULI THAMIRES; FORTI, FABIO LUIS; SERTIE, ANDREA LAURATO; ZACHI, ELAINE CRISTINA; VADASZ, ESTEVAO; PASSOS-BUENO, MARIA RITA. Actin cytoskeleton dynamics in stem cells from autistic individuals. SCIENTIFIC REPORTS, v. 8, JUL 24 2018. Web of Science Citations: 0.

ARAUJO, BRUNO H. S.; KAID, CAROLINI; DE SOUZA, JANAINA S.; DA SILVA, SERGIO GOMES; GOULART, ERNESTO; CAIRES, LUIZ C. J.; MUSSO, CAMILA M.; TORRES, LAILA B.; FERRASA, ADRIANO; HERAI, ROBERTO; ZATZ, MAYANA; OKAMOTO, OSWALDO K.; CAVALHEIRO, ESPER A. Down Syndrome iPSC-Derived Astrocytes Impair Neuronal Synaptogenesis and the mTOR Pathway In Vitro. Molecular Neurobiology, v. 55, n. 7, p. 5962-5975, JUL 2018. Web of Science Citations: 2.

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.; LOPES, MARCO ANTONIO; BAKKER, EGBERT; ZATZ, MAYANA; BERTOLA, DEBORA; DE VLAMINCK, IWIJN; PASSOS-BUENO, MARIA RITA. Development of a comprehensive noninvasive prenatal test. GENETICS AND MOLECULAR BIOLOGY, v. 41, n. 3, p. 545-554, JUL-SEP 2018. Web of Science Citations: 1.

KAID, CAROLINI; GOULART, ERNESTO; CAIRES-JUNIOR, LUIZ C.; ARAUJO, BRUNO H. S.; SOARES-SCHANOSKI, ALESSANDRA; BUENO, HELOISA M. S.; TELLES-SILVA, KAYQUE A.; ASTRAY, RENATO M.; ASSONI, AMANDA F.; JUNIOR, ANTONIO F. R.; VENTINI, DANIELLA C.; PUGLIA, ANA L. P.; GOMES, ROSELANE P.; ZATZ, MAYANA; OKAMOTO, OSWALDO K. Zika Virus Selectively Kills Aggressive Human Embryonal CNS Tumor Cells In Vitro and In Vivo. Cancer Research, v. 78, n. 12, p. 3363-3374, JUN 15 2018. Web of Science Citations: 2.

DANTAS, VITOR G. L.; RAVAL, MANMEET H.; BALLESTEROS, ANGELA; CUI, RUNJIA; GUNTHER, LAURA K.; YAMAMOTO, GUILHERME L.; ALVES, LEANDRO UCELA; BUENO, ANDRE SILVA; LEZIROVITZ, KARINA; PIRANA, SULENE; MENDES, BEATRIZ C. A.; YENGO, CHRISTOPHER M.; KACHAR, BECHARA; MINGRONI-NETTO, REGINA C. Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss. SCIENTIFIC REPORTS, v. 8, JUN 7 2018. Web of Science Citations: 0.

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. Web of Science Citations: 1.

HSIA, GABRIELLA S. P.; MUSSO, CAMILA M.; ALVIZI, LUCAS; BRITO, LUCIANO A.; KOBAYASHI, GERSON S.; PAVANELLO, RITA C. M.; ZATZ, MAYANA; GARDHAM, ALICE; WAKELING, EMMA; ZECHI-CEIDE, ROSELI M.; BERTOLA, DEBORA; PASSOS-BUENO, MARIA RITA. Complexity of the 5 ` Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. FRONTIERS IN GENETICS, v. 9, APR 25 2018. Web of Science Citations: 0.

KAGUE, E.; WITTEN, P. E.; SOENENS, M.; CAMPOS, C. L.; LUBIANA, T.; FISHER, S.; HAMMOND, C.; BROWN, K. ROBSON; PASSOS-BUENO, M. R.; HUYSSEUNE, A. Zebrafish sp7 mutants show tooth cycling independent of attachment, eruption and poor differentiation of teeth. Developmental Biology, v. 435, n. 2, p. 176-184, MAR 15 2018. Web of Science Citations: 2.

Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?. GENETICS AND MOLECULAR BIOLOGY, v. 41, n. 1, p. -, Mar. 2018.

DE CAIRES, JR., LUIZ CARLOS; GOULART, ERNESTO; MELO, UIRASOUTO; HENRIQUE ARAUJO, BRUNO SILVA; ALVIZI, LUCAS; SCHANOSKI, ALESSANDRA SOARES; DE OLIVEIRA, DANYLLO FELIPE; KOBAYASHI, GERSON SHIGERU; GRIESI-OLIVEIRA, KARINA; MUSSO, CAMILA MANSO; AMARAL, MURILOSENA; DASILVA, LUCAS FERREIRA; ASTRAY, RENATO MANCINI; SUAREZ-PATINO, SANDRA FERNANDA; VENTINI, DANIELLA CRISTINA; DA SILVA, SERGIO GOMES; YAMAMOTO, GUILHERME LOPES; EZQUINA, SUZANA; NASLAVSKY, MICHEL SATYA; ALVES SILVA, KAYQUE TELLES; WEINMANN, KARINA; VAN DER LINDEN, VANESSA; VAN DER LINDEN, HELIO; RICARDO DE OLIVEIRA, JOAO MENDES; MARIA ARRAIS, NIVIA RODRIGUES; MELO, ADRIANA; FIGUEIREDO, THALITA; SANTOS, SILVANA; GOES MEIRA, JOANNA CASTRO; PASSOS, SAULO DUARTE; DE ALMEIDA, ROQUE PACHECO; BISPO, ANA JOVINABARRETO; CAVALHEIRO, ESPERABRAO; KALIL, JORGE; CUNHA-NETO, EDECIO; NAKAYA, HELDER; SANTOS, ROBERT ANDREATA; DE SOUZA FERREIRA, LUIS CARLOS; VERJOVSKI-ALMEIDA, SERGIO; HO, PAULO LEE; PASSOS-BUENO, MARIA RITA; ZATZ, MAYANA. Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells. NATURE COMMUNICATIONS, v. 9, FEB 2 2018. Web of Science Citations: 6.

MEHRJOUY, MANA M.; FONSECA, ANA CAROLINA S.; EHMKE, NADJA; PASKULIN, GIORGIO; NOVELLI, ANTONIO; BENEDICENTI, FRANCESCO; MENCARELLI, MARIA ANTONIETTA; RENIERI, ALESSANDRA; BUSA, TIFFANY; MISSIRIAN, CHANTAL; HANSEN, CLAUS; ABE, KIKUE TERADA; SPECK-MARTINS, CARLOS EDUARDO; VIANNA-MORGANTE, ANGELA M.; BAK, MADS; TOMMERUP, NIELS. 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. Web of Science Citations: 1.

GUIMARAES MARQUES, MARCIA J.; REYES-GARCIA, SELVIN Z.; MARQUES-CARNEIRO, JOSE E.; LOPES-SILVA, LEONARDO B.; ANDERSEN, MONICA L.; CAVALHEIRO, ESPER A.; SCORZA, FULVIO A.; SCORZA, CARLA A. Long-term Potentiation Decay and Poor Long-lasting Memory Process in the Wild Rodents Proechimys from Brazil's Amazon Rainforest. FRONTIERS IN BEHAVIORAL NEUROSCIENCE, v. 12, JAN 23 2018. Web of Science Citations: 2.

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; TOURAINE, RENAUD; THEVENON, JULIEN; SHINAWI, MARWAN; BEAVER, ERIN; HEELEY, JENNIFER; HOOVER-FONG, JULIE; DURMAZ, CEREN D.; KARABULUT, HALIL GURHAN; MARZIOGLU-OZDEMIR, EBRU; CAYIR, ATILLA; DUZ, MEHMET B.; SEVEN, MEHMET; PRICE, SUSAN; FERREIRA, BARBARA MERFORT; VIANNA-MORGANTE, ANGELA M.; ELLARD, SIAN; PARRISH, ANDREW; STALS, KAREN; FLORES-DABOUB, JOSUE; JHANGIANI, SHALINI N.; GIBBS, RICHARD A.; BRUNNER, HAN G.; SUTTON, V. REID; LUPSKI, JAMES R.; CARVALHO, CLAUDIA M. B.; MENDELIAN, BAYLOR-HOPKINS CTR. 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. Web of Science Citations: 13.

ANDRE ISHIY, FELIPE AUGUSTO; FANGANIELLO, ROBERTO DALTO; KOBAYASHI, GERSON SHIGERU; KAGUE, ERIKA; KURIKI, PATRICIA SEMEDO; PASSOS-BUENO, MARIA RITA. CD105 is regulated by hsa-miR-1287 and its expression is inversely correlated with osteopotential in SHED. BONE, v. 106, p. 112-120, JAN 2018. Web of Science Citations: 1.

CERONI, JOSE R. M.; YAMAMOTO, GUILHERME L.; HONJO, RACHEL S.; KIM, CHONG A.; PASSOS-BUENO, MARIA R.; BERTOLA, DEBORA R. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?. GENETICS AND MOLECULAR BIOLOGY, v. 41, n. 1, p. 85-91, JAN-MAR 2018. Web of Science Citations: 0.

MASOTTI, C.; BRITO, L. A.; NICA, A. C.; LUDWIG, K. U.; NUNES, K.; SAVASTANO, C. P.; MALCHER, C.; FERREIRA, S. G.; KOBAYASHI, G. S.; BUENO, D. F.; ALONSO, N.; FRANCO, D.; ROJAS-MARTINEZ, A.; DOS SANTOS, S. E.; GALANTE, P. A.; MEYER, D.; HUENEMEIER, T.; MANGOLD, E.; DERMITZAKIS, E. T.; PASSOS-BUENO, M. R. MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach. JOURNAL OF DENTAL RESEARCH, v. 97, n. 1, p. 33-40, JAN 2018. Web of Science Citations: 0.

Development of a comprehensive noninvasive prenatal test. GENETICS AND MOLECULAR BIOLOGY, n. ahead, p. -, 2018.

Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?. GENETICS AND MOLECULAR BIOLOGY, n. ahead, p. -, 2018.

CARNEIRO, THAISE N. R.; KREPISCHI, ANA C. V.; COSTA, SILVIA S.; DA SILVA, ISRAEL TOJAL; VIANNA-MORGANTE, ANGELA M.; VALIERIS, RENAN; EZQUINA, SUZANA A. M.; BERTOLA, DEBORA R.; OTTO, PAULO A.; ROSENBERG, CARLA. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. APPLICATION OF CLINICAL GENETICS, v. 11, p. 93-98, 2018. Web of Science Citations: 1.

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ALMEIDA, MICHAEL F.; SILVA, CAROLLINY M.; D'UNHAO, ALINE M.; FERRARI, MERARI F. R. Aged Lewis rats exposed to low and moderate doses of rotenone are a good model for studying the process of protein aggregation and its effects upon central nervous system cell physiology. Arquivos de Neuro-Psiquiatria, v. 74, n. 9, p. 737-744, SEP 2016. Web of Science Citations: 3.

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VILLELA, DARINE; SUEMOTO, CLAUDIA K.; PASQUALUCCI, CARLOS A.; GRINBERG, LEA T.; ROSENBERG, CARLA. Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer's Disease?. FRONTIERS IN GENETICS, v. 7, JUN 14 2016. Web of Science Citations: 1.

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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. Web of Science Citations: 12.

FONSECA, ANA CAROLINA S.; BONALDI, ADRIANO; FONSECA, SIMONE A. S.; OTTO, PAULO A.; KOK, FERNANDO; BAK, MADS; TOMMERUP, NIELS; VIANNA-MORGANTE, ANGELA M. The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation. MOLECULAR CYTOGENETICS, v. 8, DEC 30 2015. Web of Science Citations: 2.

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; KUNKEL, LOUIS M.; ZATZ, MAYANA. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell, v. 163, n. 5, p. 1204-1213, NOV 19 2015. Web of Science Citations: 51.

TEIXEIRA SANTOS, MARCIA CRISTINA; GONCALVES SILVA, PATRICIA BENITES; RODINI, CAROLINA OLIVEIRA; FURUKAWA, GABRIELA; MARCO ANTONIO, DAVID SANTOS; ZANOTTO-FILHO, ALFEU; MOREIRA, JOSE C. F.; OKAMOTO, OSWALDO KEITH. Embryonic Stem Cell-Related Protein L1TD1 Is Required for Cell Viability, Neurosphere Formation, and Chemoresistance in Medulloblastoma. STEM CELLS AND DEVELOPMENT, v. 24, n. 22, p. 2700-2708, NOV 15 2015. Web of Science Citations: 3.

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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. Web of Science Citations: 22.

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MARTINS-BACH, AUREA B.; MALHEIROS, JACKELINE; MATOT, BEATRICE; MARTINS, POLIANA C. M.; ALMEIDA, CAMILA F.; CALDEIRA, WALDIR; RIBEIRO, ALBERTO F.; DE SOUSA, PAULO LOUREIRO; AZZABOU, NOURA; TANNSUS, ALBERTO; CARLIER, PIERRE G.; VAINZOF, MARIZ. Quantitative T2 Combined with Texture Analysis of Nuclear Magnetic Resonance Images Identify Different Degrees of Muscle Involvement in Three Mouse Models of Muscle Dystrophy: mdx, Large(myd) and mdx/Large(myd). PLoS One, v. 10, n. 2 FEB 24 2015. Web of Science Citations: 4.

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Filed patent(s) as a result of this research project