Quem Somos

Publicações 2017

1. Aguiar TFM, Carneiro TN, Costa CML, Rosenberg C, Cunha IW, Krepischi ACV. The genetic and epigenetic landscapes of hepatoblastomas . Applied Cancer Research (2017) 37:20, DOI 10.1186/s41241-017-0021-0

2. White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J10, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome . Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21

3. Alves LU, Santos S, Musso CM, Ezquina SAM, Opitz JM, Kok F, Otto PA; Mingroni-Netto, RC. Santos syndrome is caused by mutation in the WNT7A gene . Journal of Human Genetics , v.31 aug, p.10.1038/jhg.201 - , 2017.

4. Araujo BHS, Kaid C, De Souza JS, Gomes da Silva S, Goulart E, Caires LCJ, Musso CM, Torres LB, Ferrasa A, Herai R, Zatz M, Okamoto OK, Cavalheiro EA. Down Syndrome iPSC-Derived Astrocytes Impair Neuronal Synaptogenesis and the mTOR Pathway In Vitro . Mol Neurobiol. 2018 Jul;55(7):5962-5975. doi: 10.1007/s12035-017-0818-6. Epub 2017 Nov 11.

5. Assoni AF, Castello G, Valadares M, Beccari M, Gomes J, Pelatti M, Mitne-Neto M, Carvalho VM, Zatz M. Different donors Mesenchymal Stromal Cells secretomes reveal heterogeneous profile of relevance for therapeutic use. Stem Cells Dev. 2017 Feb 1;26(3):206-214

6. Bertola DR , Buscarilli M, Stabley DL, Baker L, Doyle D, Bartholomew DW, Sol-Church K, Gripp KW. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. Am J MedGenet A. 2017 May;173(5):1309-1318. doi: 10.1002/ajmg.a.38178.

7. Bertola DR, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim C. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. Am J Med Genet A. 2017 Mar;173(3):824-828. doi: 10.1002/ajmg.a.38070.

8. Bonaldi A, Kashiwabara A, Araújo ES, Pereira LV, Paschoal AR, Andozia MB, Villela D, Rivas MP, ISuemoto CK, Pasqualucci CA, Grinberg LT, Brentani H, Maria-Engler SS, Carraro DM, Vianna-Morgante AM, Rosenberg C, Vasques LR, Krepischi ACV. Mining novel candidate imprinted genes using genome-wide methylation screening . Epigenomes 2017, 1, 13. https://doi.org/10.3390/epigenomes1020013 .

9. Carvalho LA, Truzzi DR, Fallani TS, Alves SV, Toledo Junior JC, Augusto O, Netto LE, Meotti FC. Urate hydroperoxideoxidizes human peroxiredoxin1andperoxiredoxin 2 . J Biol Chem. 2017 May 26;292(21):8705-8715. doi: 10.1074/jbc.M116.767657. Epub 2017 Mar 27

10. Coatti GC, Frangini M, Valadares MC, Gomes JP, Lima NO, Cavaçana N, Assoni AF, Pelatti MV, Birbrair A, de Lima ACP, Singer JM, Rocha FMM, Da Silva GL, Mantovani MS, Macedo-Souza LI, Ferrari MF , Zatz M. Pericytes Extend Survival of ALS SOD1 Mice and Induce the Expression of Antioxidant Enzymes in the Murine Model and in IPSCs Derived Neuronal Cells from an ALS Patient. Stem Cell Rev Rep. 2017 Oct;13(5):686-698. doi: 10.1007/s12015-017-9752-2

11. Comper SM, Jardim AP, Corso JT, Gaça LB, Noffs MHS, Lancellotti CLP, Cavalheiro EA, Centeno RS, Yacubian EMT. Impact of hippocampal subfield histopathology in episodic memory impairment in mesial temporal lobe epilepsy and hippocampal sclerosis. Epilepsy Behav. 2017 Oct;75:183-189. doi: 10.1016/j.yebeh.2017.08.013. Epub 2017 Sep 3.

12. Cotta A, Paim JF, Pavanello RC, Nogueira L, Leão LG, Xavier-Neto R, Navarro MM, Carvalho E, Valicek J, Silveira EB, Takata RI, Vainzof M. Central core myopathy with autophagy. Muscle Nerve. 2017 Feb 6. doi: 10.1002/mus.25594. [Epub ahead of print].

13. da Silva PBG, Teixeira Dos Santos MC, Rodini CO, Kaid C, Pereira MCL, Furukawa G, da Cruz DSG, Goldfeder MB, Rocha CRR, Rosenberg C, Okamoto OK. High OCT4A levels drive tumorigenicity and metastatic potential of medulloblastoma cells . Oncotarget. 2017 Mar 21;8(12):19192-19204. doi: 10.18632/oncotarget.15163. PubMed PMID: 28186969; PubMed Central PMCID: PMC5386677.

14. de Oliveira Alves N, Vessoni AT, Quinet A, Fortunato RS, Kajitani GS, Peixoto MS, Hacon SS, Artaxo P, Saldiva P, Menck CFM, Batistuzzo de Medeiros SR (2017) Biomass burning in the Amazon region causes DNA damage and cell death in human lung cells . Sci Rep. 7(1): 10937.

15. Dernowsek JA, Pereira MC, Fornari TA, Macedo C, Assis AF, Donate PB, Bombonato-Prado KF, Passos-Bueno MR, Passos GA. Posttranscriptional Interaction between miR-450a-5p and miR-28-5p and STAT1 mRNA Triggers Osteoblastic Differentiation of Human Mesenchymal Stem Cells. J Cell Biochem. 2017 Nov;118(11):4045-4062. doi: 10.1002/jcb.26060. Epub 2017 May 23

16. Dos Santos Matioli MNP, Suemoto CK, Rodriguez RD, Farias DS, da Silva MM, Leite REP, Ferretti-Rebustini REL, Farfel JM, Pasqualucci CA, Jacob Filho W, Arvanitakis Z, Naslavsky MS, Zatz M, Grinberg LT, Nitrini R. Diabetes is Not Associated with Alzheimer's Disease Neuropathology. J Alzheimers Dis. 2017;60(3):1035-1043. doi: 10.3233/JAD-170179.

17. Ducci RD, Scola RH, Lorenzoni PJ, Kay CSK, Blood MRY, Leão LG, Vainzof M, Werneck LC. Immune-mediated rippling muscle disease in a patient with treated hypothyroidism. J Neurol Sci. 2017 Dec 15;383:53-55. doi: 10.1016/j.jns.2017.10.016. Epub 2017 Oct 13.

18. Farizatto KLG, Ikonne US, Almeida MF, Ferrari MF, Bahr BA. Aβ42-mediated proteasome inhibition and associated tau pathology in hippocampus are governed by a lysosomal response involving cathepsin B: Evidence for protective crosstalk between protein clearance pathways . PLoS One. 2017 Aug 10;12(8):e0182895. doi: 10.1371/journal.pone.0182895. eCollection 2017

19. França GS, Hinske LC, Galante PA, Vibranovski MD. Unveiling the Impact of the Genomic Architecture on the Evolution of Vertebrate microRNAs . Front Genet. 2017,Mar 21;8:34. doi: 10.3389/fgene.2017.00034.

20. Fuentes-León F, González-Pumariega Tamayo MV, Menck CFM, Sánchez-Lamar A. Toxic Evaluation of Cymbopogon citratus Chemical Fractions in E. coli. Cosmetics, 4(2), 20, 2017.

21. Gomes F, Palma FR, Barros MH, Tsuchida ET, Turano HG, Alegria TGP, Demasi M, Netto LES. Proteolytic cleavage by the inner membrane peptidase (IMP) complex or Oct1 peptidase controls the localization of the yeast peroxiredoxin Prx1 todistinct mitochondrial compartments . J Biol Chem. 2017 Oct13;292(41):17011-17024. doi: 10.1074/jbc.M117.788588. Epub 2017 Aug 18. PubMedPMID: 28821623; PubMed Central PMCID: PMC5641892.

22. Gomes JPA, Assoni AF, Pelatti M, Coatti G, Okamoto OK, Zatz M. Deepening a Simple Question: Can MSCs Be Used to Treat Cancer? Anticancer Res. 2017 Sep;37(9):4747-4758. Review. PubMed PMID: 28870893.

23. Gomes KF, Santos AS, Semzezem C, Correia MR, Brito LA, Ruiz MO, Fukui RT, Matioli SR, Passos-Bueno MR, Silva ME. The influence of population stratification on genetic markers associated with type 1 diabetes. Sci Rep. 2017 Mar 6;7:43513. doi: 10.1038/srep43513.

24. Gomes KF, Semzezem C, Batista R, Fukui RT, Santos AS, Correia MR, Passos-Bueno MR, Silva ME. Importance of Zinc Transporter 8 Autoantibody in the Diagnosis of Type 1 Diabetes in Latin Americans. Sci Rep. 2017 Mar 16;7(1):207. doi: 10.1038/s41598-017-00307-4.

25. Gomes LR, Menck CFM, Cuervo AM. Chaperone-mediated autophagy prevents cellular transformation by regulating MYC proteasomal degradation . Autophagy. 2017 May 4;13(5):928-940. doi: 10.1080/15548627.2017.1293767. Epub 2017 Mar 2

26. Gomes LR, Menck CFM, Leandro GS . Autophagy Roles in the modulation of DNA Repair Pathways . Int J Mol Sci. 2017 Nov; 18(11): 2351. Published online 2017 Nov 7. doi: 10.3390/ijms18112351

27. Gonçalves da Silva PB, Teixeira dos Santos MC, Oliveira R, Kaid C, Leite Pereira MC,Furukawa G, Gimenez da Cruz DS, Barbugiani MG, Reily CRR, Rosenberg C, Okamoto OK. High OCT4A levels drive tumorigenicity and metastatic potential of medulloblastoma cells . Oncotarget. 2017 Mar 21;8(12):19192-19204. doi: 10.18632/oncotarget.15163

28. Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM. Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848 . Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28.

29. Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola DR, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT; Baylor-Hopkins Center for Mendelian Genomics, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures . Am J Hum Genet. 2017 Nov 2;101(5):815-823. doi: 10.1016/j.ajhg.2017.09.019.

30. Lerner LK, Francisco G, Soltys DT, Rocha CR, Quinet A, Vessoni AT, Castro LP, David TI, Bustos SO, Strauss BE, Gottifredi V, Stary A, Sarasin A, Chammas R, Menck CFM. Predominant role of DNA polymerase eta and p53-dependent translesion synthesis in the survival of ultraviolet-irradiated human cells . Nucleic Acids Res. 2017 Feb 17;45(3):1270-1280. doi: 10.1093/nar/gkw1196

31. Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Autism Sequencing Consortium*, Church GM, Scherer SW, Buxbaum JD, Walsh CA. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder . Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17.*Passos-Bueno, MR is part of the ASC.

32. Martins-Pinheiro M, Oliveira AR, Valencia AO, Fernandez-Silva FS, Silva LG, Lopes-Kulishev CO, Italiani VCS, Marques MV, Menck CFM, Galhardo RS. Molecular characterization of Caulobactercrescentus mutator strains . Gene. 2017 Aug 30;626:251-257. doi: 10.1016/j.gene.2017.05.038. Epub 2017 May 19

33. Masotti C, Brito LA, Nica AC, Ludwig KU, Nunes K, Savastano CP, Malcher C, Ferreira SG, Kobayashi GS, Bueno DF, Alonso N, Franco D, Rojas-Martinez A, Dos Santos SE, Galante PA, Meyer D, Hünemeier T, Mangold E, Dermitzakis ET, Passos-Bueno MR. MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach. J Dent Res. 2018 Jan;97(1):33-40. doi: 10.1177/0022034517735805. Epub 2017 Oct 20.

34. Meireles DA, Domingos RM, Gaiarsa JW, Ragnoni EG, Bannitz-Fernandes R, da Silva Neto JF, de Souza RF, Netto LES. Functional and evolutionary characterization of Ohr proteins in eukaryotes reveals many active homologs amongpathogenic fungi . Redox Biol. 2017 Aug;12:600-609. doi: 10.1016/j.redox.2017.03.026. Epub 2017 Apr 2. PubMed PMID: 28391181; PubMed Central PMCID: PMC5384416

35. Melo TQ, van Zomeren KC, Ferrari MF, Boddeke HWGM, Copray JCVM. Impairment of mitochondria dynamics by human A53T α-synuclein and rescue by NAP (davunetide) in a cell model for Parkinson’s disease . Exp Brain Res. 2017 Mar;235(3):731-742. doi: 10.1007/s00221-016-4836-9. Epub 2016 Nov 19

36. Miller EE, Kobayashi GS, Musso CM, Allen M, Ishiy FA, de Caires Junior LC, Guimarães ES, Griesi-Oliveira K, Zechi-Ceide RM, Richieri-Costa A, Bertola DR, Passos-Bueno MR, Silver DL. EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira Syndrome. Hum Mol Genet. 2017 Jun 15;26(12):2177-2191. doi: 10.1093/hmg/ddx078

37. Morais MAB, Giuseppe PO, Souza TACB, Castro H, Honorato RV, Oliveira PSL, Netto LES, Tomas AM, Murakami MT. Calcium and magnesium ions modulate the oligomeric state and function of mitochondrial 2-Cys peroxiredoxins in Leishmania parasites . J Biol Chem. 2017 Apr 28;292(17):7023-7039. doi: 10.1074/jbc.M116.762039. Epub 2017 Mar 14. PubMed PMID: 28292930; PubMed Central PMCID: PMC5409470.

38. Moreira de Mello JC, Fernandes GR, Vibranovski MD, Pereira LV. Early X chromosome inactivation during human preimplantation development revealed by single-cell RNA-sequencing . Sci Rep. 2017 Sep 7;7(1):10794. Doi 10.1038/s41598-017-11044-z

39. Munford V, Castro LP, Souto R, Lerner LK, Vilar JB, Quayle C, Asif H, Schuch AP, de Souza TA, Ienne S, Alves FI, Moura LM, Galante PA, Camargo AA, Liboredo R, Pena SD, Sarasin A, Chaibub SC, Menck CFM. A genetic cluster of xeroderma pigmentos um variant patients with two different founder mutations . Br J Dermatol. 2017 May;176(5):1270-1278. doi: 10.1111/bjd.15084. Epub 2017 Mar 22

40. Muñoz MJ, Nieto Moreno N, Giono LE, CambindoBotto AE, Dujardin G, Bastianello G, Lavore S, Torres-Méndez A, Menck CFM, Blencowe BJ, Irimia M, Foiani M, Kornblihtt AR. Major Roles for Pyrimidine Dimers, NucleotideExcisionRepair, and ATR in theAlternativeSplicing Response to UV Irradiation . Cell Rep. 2017 Mar 21;18(12):2868-2879. doi: 10.1016/j.celrep.2017.02.066

41. Naslavsky MS, Yamamoto GL, de Almeida TF, Ezquina SAM, Sunaga DY, Pho N, Bozoklian D, Sandberg TOM, Brito LA, Lazar M, Bernardo DV, Amaro E Jr, Duarte YAO, Lebrão ML, Passos-Bueno MR, Zatz M. Exomic variants of an elderly cohort of Brazilians in the ABraOM database. Hum Mutat. 2017 Jul;38(7):751-763. doi: 10.1002/humu.23220. Epub 2017 May 3

42. Nejm MB, Haidar AA, Hirata AE, Oyama LM, de Almeida AG, Cysneiros RM, Cavalheiro EA, Scorza CA, Scorza FA. Fish Oil Supplementation Reduces Heart Levels of Interleukin-6 in Rats with Chronic Inflammation due to Epilepsy. Front Neurol. 2017 Jun 9;8:263. doi: 10.3389/fneur.2017.00263. eCollection 2017.

43. Nunes BG, Loures FV, Bueno HMS, Cangussu EB, Goulart E, Coatti GC, Caldini EG, Condino-Neto A, Zatz M. Immunoglobulin therapy ameliorates the phenotype and increases lifespan in the severely affected dystrophin–utrophin double knockout mice . Eur J Hum Genet. 2017 Dec;25(12):1388-1396. doi: 10.1038/s41431-017-0017-y. Epub 2017 Oct 27.

44. Oliveira JFS, Oliveira VT, Gurgel-Giannett J,Pietra RX, Rubatino FVM, Carobin NV, Gabrielle S. Vianna ML. de Freitas, Fernandes KS, Ribeiro BSV. Ribeiro HT. Brüggenwirth, Roza Ali-Amin, Baylor-Hopkins Center for MendelianGenomics, Janson J. White, Zeynep C. Akdemir, Shalini N. Jhangiani, Gibbs RA,Lupski JR, Varela MC, Koiffmann C, Rosenberg C, Carvalho C MB. Dual Molecular Diagnosis Contributes to Atypical Prader-Willi Phenotype in Monozygotic Twins . American Journal of Medical Genetics Part A . Article DOI: 10.1002/ajmg.a.38315 Article accepted on 9 May, 2017

45. Paolacci S, Bertola DR, Franco J, Mohammed S, Tartaglia M, Wollnik B, Hennekam RC. Wiedemann-Rautenstrauch syndrome: A phenotype analysis. Am J MedGenet A. 2017 Apr 26. doi: 10.1002/ajmg.a.38246.

46. Pedroso JL, Munford V, Bastos AU, Castro LP, Marussi VHR, Silva GS, Arita JH, Menck CFM, Barsottini OG. LMNB1 mutation causes cerebellar involvement and a genome instability defect . J Neurol Sci. 2017 Aug 15;379:249-252. doi: 10.1016/j.jns.2017.06.027. Epub 2017 Jun 16.

47. Pramio DT, Kashiwabara AY, Pennacchi PC, Rivas MP, Maria-Engler SS, Campos AHJFM, Duprat JP, Carraro DM, Krepischi ACV. Epigenetic signature of differentially methylated genes in cutaneous melanoma. Applied Cancer Research 2017.37:34. https://doi.org/10.1186/s41241-017-0041-9 .

48. Previato Mello M, Meireles DA, Netto LES, da Silva Neto JF. The global transcriptional response to organic hydroperoxide and the role of OhrR in the control of virulence traits in Chromobacteriumviolaceum. Infect Immun. 2017 May 15. pii: IAI.00017-17. doi: 10.1128/IAI.00017-17. [Epub ahead of print] PubMed PMID: 28507067.

49. Reis VN, Kitajima JP, Tahira AC, Feio-Dos-Santos AC, Fock RA, Lisboa BC,Simões SN, Krepischi AC, Rosenberg C, Lourenço NC, Passos-Bueno MR, Brentani H. Integrative Variation Analysis Reveals that a Complex Genotype May SpecifyPhenotype in Siblings with Syndromic Autism Spectrum Disorder . PLoS One. 2017 Jan 24;12(1):e0170386. doi: 10.1371/journal.pone.0170386. eCollection 2017. PubMed. PMID: 28118382; PubMed Central PMCID: PMC5261619.

50. Ribeiro AL, Kaid C, Silva PBG, Cortez BA, Okamoto OK. Inhibition of Lysyl Oxidases Impairs Migration and Angiogenic Properties of Tumor-Associated Pericytes . Stem Cells Int. 2017;2017:4972078. doi: 10.1155/2017/4972078. Epub 2017 May 3. PubMed PMID: 28553358; PubMed Central PMCID: PMC5434472.

51. Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML , Passos-Bueno MR. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome . Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101.

52. Santos JM, Andrade PV, Galleni L, Vainzof M, Sobreira CFR, Schmidt B, Oliveira ASB, Amaral JLG, Silva HCA.. Idiopathic hyperCKemia and malignant hyperthermia susceptibility. Can J Anaesth. 2017 Dec;64(12):1202-1210. doi: 10.1007/s12630-017-0978-x. Epub 2017 Sep 26

53. Schactae AL, Plamas D, Michels M, Generoso JS, Barichello T, Dal-Pizzol F, Vainzof M, Comim CM. Congenital muscular dystrophy 1D causes matrix metalloproteinase activation and blood-brain barrier impairment. Curr Neurovasc Res. 2017;14(1):60-64. doi: 10.2174/ 1567202613666161201204549.

54. Schimke LF, Hibbard J, Martinez-Barricarte R, Khan TA, de Souza Cavalcante R, Borges de Oliveira Junior E, Takahashi França T, Iqbal A, Yamamoto G, Arslanian C, Feriotti C, Costa TA, Bustamante J, Boisson-Dupuis S, Casanova JL, Marzagao Barbuto JA , Zatz M, Poncio Mendes R, Garcia Calich VL, Ochs HD, Torgerson TR, Cabral-Marques O, Condino-Neto A. Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity. J Infect Dis. 2017 Dec 19;216(12):1623-1634. doi: 10.1093/infdis/jix522.

55. Schuch AP, Moreno NC, Schuch NJ, Menck CFM, Garcia CC. Sunlight damage to cellular DNA: Focus on oxidatively generated lesions . Free Radic Biol Med. 2017 Jun;107:110-124. doi: 10.1016/j.freeradbiomed.2017.01.029. Epub 2017 Jan 18.

56. Scorza CA, Marques MJG, Gomes da Silva S, Naffah-Mazzacoratti MDG, Scorza FA, Cavalheiro EA. Status epilepticus does not induce acute brain inflammatory response in the Amazon rodent Proechimys, an animal model resistant to epileptogenesis. Neurosci Lett. 2018 Mar 6;668:169-173. doi: 10.1016/j.neulet.2017.02.049. Epub 2017 Feb 22.

57. Scorza FA, Tufik S, Scorza CA, Andersen ML, Cavalheiro EA. Sudden unexpected death in Parkinson's disease (SUDPAR): sleep apnea increases risk of heart attack. Sleep Breath. 2017 Dec;21(4):965-966. doi: 10.1007/s11325-017-1511-8. Epub 2017 May 23. No abstract available.

58. Silva HCAD, Hiray M, Vainzof M, Schmidt B, Oliveira ASB, Amaral JLGD. [ Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy ]. Rev Bras Anestesiol. 2018 Jul - Aug;68(4):404-407. doi: 10.1016/j.bjan.2017.04.015. Epub 2017 May 31

59. Silva MC, Magalhães TA, Meira ZM, Rassi CH, Andrade AC, Gutierrez PS, Azevedo CF, Gurgel-Giannetti J, Vainzof M, Zatz M, Kalil-Filho R, Rochitte CE. Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial. JAMA Cardiol. 2017 Feb 1;2(2):190-199. doi: 10.1001/jamacardio.2016.4801.

60. Sobreira N, Brucato M, Zhang L, Ladd-Acosta C, Ongaco C, Romm J, Doheny KF, Mingroni-Netto RC, Bertola DR, Kim CA, Perez AB, Melaragno MI, Valle D, Meloni VA, Bjornsson HT. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities . European Journal of Human Genetics. , v.25, p.1335 - 1344, 2017

61. Suemoto CK, Ferretti-Rebustini RE, Rodriguez RD, Leite RE, Soterio L, Brucki SM, Spera RR, Cippiciani TM, Farfel JM, Chiavegatto Filho A , Naslavsky MS, Zatz M, Pasqualucci CA, Jacob-Filho W, Nitrini R, Grinberg LT. Neuropathological diagnoses and clinical correlates in older adults in Brazil: A cross-sectional study. PLoS Med. 2017 Mar 28;14(3):e1002267. doi: 10.1371/journal.pmed.1002267. eCollection 2017 Mar 28.

62. Turano H, Gomes F, Barros-Carvalho GA, Lopes R, Cerdeira L, Netto LES, Gales AC, Lincopan N. Tn6350, a Novel Transposon Carrying Pyocin S8 Genes Encoding a Bacteriocin with Activity against Carbapenemase-Producing Pseudomonas aeruginosa . Antimicrob Agents Chemother. 2017 Apr 24;61(5). pii: e00100-17. doi: 10.1128/AAC.00100-17. Print 2017 May. PubMed PMID: 28242657; PubMed Central PMCID: PMC5404539.

63. Vieira NM, Spinazzola JM , Alexander MS, Moreira YB , Kawahara G, Gibbs DE, Mead LC , Verjovski-Almeida S, Zatz M, Kunkel LM. Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2017 Jun 6;114(23):6080-6085. doi: 10.1073/pnas.1703556114.

64. Villela D, Costa SS, Vianna-Morgante AM, Krepischi AC, Rosenberg C. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting . Eur J Med Genet. . 60(12):667-674, 2017 doi: 10.1016

65. Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola DR, Bohring A, Carter ECTJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Am J Med Genet A. 2017 May 12. doi: 10.1002/ajmg.a.38267.

66. Yagura T, PassagliaSchuch A, Garcia CC, Rocha CR, Cestari Moreno N, Angeli JP, Mendes D, Severino D, Bianchini Sanchez A, Di Mascio P, Gennari de Medeiros MH, Menck CF . Direct participation of DNA in the formation of singlet oxygen and base damage under UVA irradiation . Free Radic Biol Med. 2017 Jul;108:86-93. doi: 10.1016/j.freeradbiomed.2017.03.018. Epub 2017 Mar 18