Quem Somos

Publicações 2016

1. Alegria TG, Meireles DA, Cussiol JR, Hugo M, Trujillo M, de Oliveira MA, Miyamoto S, Queiroz RF, Valadares NF, Garratt RC, Radi R, Di Mascio P, Augusto O, Netto LE. Ohr plays a central role in bacterial responses against fatty acid hydroperoxides and peroxynitrite . ProcNatlAcadSci U S A. 2017 Jan 10;114(2):E132-E141. doi: 10.1073/pnas.1619659114. Epub 2016 Dec 27. PubMed PMID: 28028230; PubMed Central PMCID: PMC5240686.

2. Almeida CF, Fernandes SA, Ribeiro AF, Okamoto OK, Vainzof M. Muscle satellite cells: exploring the basic biology to rule them . Stem Cells Int. 2016;2016:1078686. doi: 10.1155/2016/1078686. Epub 2016. Review

3. Almeida CF, Martins PC, Vainzof M. Comparative transcriptome analysis of muscular dystrophy models Largemyd, Dmdmdx/Largemydand Dmdmdx: what makes them different? Eur J Hum Genet. 2016 Aug;24(9):1301-9. doi: 10.1038/ejhg.2016.16. Epub 2016 Mar 2

4. Almeida M.F, Silva CM, D'Unhão AM, Ferrari MF. Aged Lewis rats exposed to low and moderate doses of rotenone are a good model to study the process of protein aggregation and its effects upon central nervous system cell physiology . Exp Neurol. 2016 Jan;275 Pt 1:69-77. doi: 10.1016/j.expneurol.2015.10.005. Epub 2015 Oct 21

5. Almeida MF, Chaves RS , Silva CM, Chaves J CS, Melo KP, Ferrari MF. BDNF trafficking and signaling impairment during early neurodegeneration is prevented by moderate physical activity . IBRO Rep. 2016 Aug 30;1:19-31. doi: 10.1016/j.ibror.2016.08.001. eCollection 2016 Dec.

6. Alves LU ; Alvarez AB; Alonso LG; Otto P; Mingroni-Netto RC. Novel frameshift variant in gene SALL4 causing Okihiro syndrome . Eur J Med Genet. 2016 Feb;59(2):80-5. doi: 10.1016/j.ejmg.2015.12.015. Epub 2016 Jan 11

7. Barboni MT, Martins CM, Nagy BV, Tsai T, Damico FM, da Costa MF, de Cassia R, Pavanello M, Lourenço NC, de Cerqueira AM, Zatz M, Kremers J, Ventura DF. Dystrophin Is Required for Proper Functioning of Luminance and Red-Green Cone Opponent Mechanisms in the Human Retina. Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3581-7.

8. Barboza LC Jr; Lezirovitz K; Zanatta DB; Strauss BE;Mingroni-Netto RC; Oiticica J; Haddad LA; Bento RF. Transplantation and survival of mouse inner ear progenitor/stem cells in the organ of Corti after cochleostomy of hearing-impaired guinea pigs: preliminary results . Brazilian Journal of Medical and Biological research. , v.49, p.1 - , 2016. doi: 10.1590/1414-431X20155064

9. Bertola D ; Honjo RS; Baratela WA. Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects . Mol Syndromol. 7(1):12-8. doi: 10.1159/000444729.Apr, 2016.

10. Bonamichi BD, Santiago SL, Bertola DR, Kim CA, Alonso N, Mendonca BB, Bachega TA, Gomes LG. Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency. ArchEndocrinolMetab. 2016 Oct;60(5):500-504. doi: 10.1590/2359-3997000000213.

11. Calyjur PC, Almeida CF, Santos ALF, Ribeiro AF, Ayub-Guerrieri D, Fernandes SA, Onofre-Oliveira S, Vainzof M. The mdx mutation in the 129/Sv background results in a milder phenotype: Transcriptome comparative analysis searching for the protective factors . PLoS One. 2016;11(3):e0150748. doi: 10.1371/journal.pone.0150748. eCollection 2016.

12. Chaves RS, Kazi A, Silva CM, Almeida M, Lima RS, Carrettiero DC, Demasi M, Ferrari MF. Presence of insoluble Tau following rotenone exposure ameliorates basic pathways associated with neurodegeneration . IBRO Rep. 2016 Sep 26;1:32-45. doi: 10.1016/j.ibror.2016.09.001. eCollection 2016 Dec

13. Comim CM, Schactae AL, Soares JA, Ventura L, Freiberger V, Mina F, Dominguini D, Vainzof M, Quevedo J. Behaveioral Response in animal modelo of congenial muscular dystrophy 1D . Mol Neurobiol. 2016;53(1):402-7. doi: 10.1007/s12035-014-9024-y. Epub 2014 Dec3.

14. Comim CM, Hoepers A, Ventura L, Freiberger V, Dominguini D, Mina F, Mendonça BP, Scaini G, Vainzof M, Streck EL, Quevedo J. Activity of Krebs cycle enzymes in mdx mice . Muscle Nerve. 2016 Jan;53(1):91-5. doi: 10.1002/mus.24704

15. de Melo JT, de Souza Timoteo AR, Lajus TB, Brandão JA, de Souza-Pinto NC, Menck CFM, Campalans A, Radicella JP, Vessoni AT, Muotri AR, Agnez-Lima LF. XPC deficiency is related to APE1 and OGG1 expression and function . Mutat Res. 2016 Feb-Mar;784-785:25-33. doi: 10.1016/j.mrfmmm.2016.01.004. Epub 2016 Jan 16

16. de Oliveira AS, Santiago FE, Balioni LF, Ferrari MF, Almeida MC, Carrettiero DC. BAG2 expression dictates a functional intracellular switch between the p38-dependent effects of nicotine on tau phosphorylation levels via the α7 nicotinic receptor.Exp Neurol . 2016 Jan;275Pt 1:69-77. doi: 10.1016/j.expneurol.2015.10.005. Epub 2015 Oct 21.

17. De Peralta MS, Mouguelar VS, Sdrigotti MA, Ishiy FA, Fanganiello RD, Passos-Bueno MR, Coux G, Calcaterra NB. Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes. Cell Death Dis. 2016 Oct 6;7(10):e2397. doi: 10.1038/cddis.2016.299.

18. Dias AT, Zanardo ÉA, Dutra RL, Piazzon FB, Novo-Filho GM, Montenegro MM, Nascimento AM, Rocha M, Madia FA, Costa TV, Milani C, Schultz R, Gonçalves FT, Fridman C, Yamamoto GL, Bertola DR, Kim CA, Kulikowski LD. Post-mortem cytogenomic investigations in patients with congenital malformations. ExpMolPathol. 2016 Aug;101(1):116-23. doi: 10.1016/j.yexmp.2016.07.003.

19. Fernandes MB, Maximino LP, Perosa GB, Abramides DV, Passos-Bueno MR, Yacubian-Fernandes A. Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects. Am J Med Genet A. 2016 Jun;170(6):1532-7. doi: 10.1002/ajmg.a.37640. Epub 2016 Mar 30.

20. Ferreira EN, Barros BD, de Souza JE, Almeida RV, Torrezan GT, Garcia S, Krepischi AC, Mello CA, Cunha IW, Pinto CA, Soares FA, Dias-Neto E, Lopes A, de Souza SJ, Carraro DM. A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease . Hum Genomics. 2016 Nov 18;10(1):36. PubMed PMID: 27863505.

21. Fidalgo F, Rodrigues TC, Silva AG, Facure L, de Sá BC, Duprat JP, Achatz MI, Rosenberg C, Carraro DM, Krepischi AC. Role of rare germline copy number variation in melanoma-prone patients. Future Oncol.2016 Jun;12(11):1345-57. doi: 10.2217/fon.16.22. Epub 2016 Mar 29.

22. Figueiredo T, Melo SU, Pessoa ALS, Nobrega PR4, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S. A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability . Mol Psychiatry. 2016 Aug;21(8):1125-9. doi: 10.1038/mp.2015.150. Epub 2015 Sep 29.

23. Franca GS, Vibranovski MD. Galante PA. Host gene constraints and genomic context impact the expression and evolution of human microRNAs . Nat Commun. 2016 Apr 25;7:11438. doi: 10.1038/ncomms11438.

24. Franco JF, Soares DC, Torres LC, Leal GN, Cunha MT, Honjo RS, Bertola DR, Kim CA. Short communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings . Genet Mol Res. 2016 Feb 22;15(1). doi: 10.4238/gmr.15017850.

25. Gomes LR, Vessoni AT, Menck CF. Microenvironment and autophagy cross-talk: Implications in cancer therapy . Pharmacol Res. 2016 May;107:300-307. doi: 10.1016/j.phrs.2016.03.031. Epub 2016 Mar 29

26. Ha K, Anand P, Lee JA, Jones JR, Kim CA, Bertola DR, Labonne JD, Layman LC, Wenzel W, Kim HG. Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort. Genes (Basel). 2016 Nov9;7(11). pii: E96.

27. Kimura L; Nunes K, Macedo-Souza LI, Rocha J, Meyer D, Mingroni-Netto RC. Inferring paternal history of rural African-derived Brazilian populations from Y chromosomes . Am J Hum Biol. 2017 Mar;29(2). doi: 10.1002/ajhb.22930. Epub 2016 Oct 20

28. Krepischi AC , Maschietto M, Ferreira EM, Silva AG; Costa SS, da Cunha IW; Barros BD, Grundy PE, Rosenberg C, Carraro DM. Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors. MolCytogenet . 2016 Feb 24;9:20. doi: 10.1186/s13039-016-0227-y. eCollection 2016.PMID: 26913079 Free PMC Article.

29. Linhares ND, Valadares ER, da Costa SS, Arantes RR, de Oliveira LR, Rosenberg C, Vianna-Morgante AM, Svartman M. Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization. Meta Gene. 2016 Jul 7;9:185-90. doi: 10.1016/j.mgene.2016.07.004. eCollection 2016 Sep

30. Lopim GM, Vannucci CD, Gomes da Silva S, de Almeida AA, Lent R, Cavalheiro EA, Arida RM. Relationship between seizure frequency and number of neuronal and non-neuronal cells in the hippocampus throughout the life of rats with epilepsy. Brain Res.2016 Mar 1;1634:179-86.

31. Mariano FV, Giovanetti K, Saccomani LF, Del Negro A, Kowalski LP, Krepischi AC, Altemani A. Carcinoma ex-pleomorphic adenoma derived from recurrent pleomorphic adenoma shows important difference by array CGH compared to recurrent pleomorphic adenoma without malignant transformation . Braz J Otorhinolaryngol. 2016a Nov - Dec;82(6):687-694. doi: 10.1016/j.bjorl.12.004. PubMed PMID: 26971045.

32. Martins-Pinheiro M, Lima WC, Asif H, Oller CA, Menck CFM. Evolutionary and functional relationships of the dha regulon by genomic context analysis . PLoS One. 2016; 11(3): e0150772. Published online 2016 Mar 3. doi: 10.1371/journal.pone.0150772

33. Maschietto M, Rodrigues TC, Kashiwabara AY, Souza de Araujo ÉS, Marques Aguiar TF, Lima da Costa CM, da Cunha IW, Reis Vasques LD, Cypriano M, Brentani H, Caminada de Toledo SR, Pearson PL, Carraro DM, Rosenberg C, Krepischi AC. DNA methylation landscape of hepatoblastomas reveals arrest at early stages of liver differentiation and cancer-related alterations . Oncotarget. 2016 Dec 25. doi:10.18632/oncotarget.14208. [Epub ahead of print] PubMed PMID: 28038456.

34. Moreira ES, Silva IMW, Lourenço N, Moreira DP, Ribeiro CM, Martins ALB; Griesi-Oliveira K, Lazar M, Costa SS; Naslavsky MS, Rocha KM; Aguena M; Fett-Conte AC, Zatz M, Rosenberg C, Zachi EC, Bertola DR, VAdasz E, Passos-Bueno MR. Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) . Research in Autism Spectrum Disorders. 23: 145–151, 2016. https://doi.org/10.1016/j.rasd.2015.12.012

35. Moreno CA, Metze K, Lomazi EA, Bertola DR, Barbosa RH, Cosentino V, Sobreira N, Cavalcanti DP. Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. Am J Med Genet A. 2016 Nov;170(11):2965-2974. doi: 10.1002/ajmg.a.37857.

36. Morris MLM, Baroneza JE, Teixeira P, Medina CTN, Cordoba MS, Versiani BR, Roese LL, Freitas EL, Fonseca ACS, dos Santos MCG, Pic-Taylor A, Rosenberg C, Oliveira SF, Ferrari I, Mazzeu JF. Partial 1q Duplications and Associated Phenotype . Mol Syndromol. 2016 Feb; 6(6): 297–303. Published online 2016 Feb 4. doi: 10.1159/000443599

37. Nash TE, Mahanty S, Loeb JÁ, Theodore WH, Friedman A, Sander JW, Singh G; Cavalheiro E, Del Brutto OH, Takayanagui OM, Fleury A, Verastegui M, Preux PM, Montano S, Pretell EJ, White AC Jr, Gonzales AE, Gilman RH; Garcia HH. In response: Multifactorial basis of epilepsy in patients with neurocysticercosis. Epilepsia. 2015 Jun;56(6):975-6. doi: 10.1111/epi.12986

38. Netto LES, Antunes F. The Roles of Peroxiredoxin and Thioredoxin in HydrogenPeroxide Sensing and in Signal Transduction. Mol Cells. 2016 Jan 31;39(1):65-71. doi: 10.14348/molcells.2016.2349. Epub 2016 Jan 25. Review. PubMed PMID:26813662; PubMed Central PMCID: PMC4749877.

39. Netto LES, de Oliveira MA, Tairum CA, da Silva Neto JF. Conferring specificity in redox pathways by enzymatic thiol/disulfide exchange reactions. Free RadicRes. 2016;50(2):206-45. PubMed PMID: 26573728.

40. Nunes K, Piovezan B, Torres M A, Pontes GN, Kimura L, Carnavalli JEP, Mingroni Netto RC, Moraes ME, Meyer D. Population variation of HLA genes in rural communities in Brazil, the Quilombos from the Vale do Ribeira, São Paulo - Brazil. Hum Immunol. 2016 Jun;77(6):447-8. doi: 10.1016/j.humimm.2016.04.007. Epub 2016 Apr 6

41. Nunes K, ZHENG X, Torres MA, Morae ME, Piovezan BZ, Pontes GN; Kimura L; Carcavalli JEP; Mingroni Netto RC; Meyer D. HLA imputation in an admixed population: An assessment of the 1000 Genomes data as a training set. Hum Immunol. 2016 Mar;77(3):307-312. doi: 10.1016/j.humimm.2015.11.004. Epub 2015 Nov 12

42. Pansani AP, Colugnati DB, Scorza CA, de Almeida AC, Cavalheiro EA, Scorza FA. Furthering our understanding of SUDEP: the role of animal models. Expert Rev Neurother. 2016 May;16(5):561-72. doi: 10.1586/14737175.2016.1169925. Epub 2016 Apr 18

43. Pedroso JL, Rocha CRR; Macedo-Souza LI, Mario VD; Marques W, Barsottini OGP; Oliveira ASB; Menck CFM, Kok F. Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease . Neurol Genet. 2015 Dec; 1(4): e30. Published online 2015 Oct 22. doi: 10.1212/NXG.0000000000000030

44. Pelatti MV, Gomes JP, Vieira NM, Cangussu E, Landini V, Andrade T, Sartori M, Petrus L, Zatz M. Transplantation of Human Adipose Mesenchymal Stem Cells in Non-Immunosuppressed GRMD Dogs is a Safe Procedure. StemCell Rev. 2016. Aug 12 (4): 448-53.

45. Pramio DT, Pennacchi PC, Maria-Engler SS, Campos AH, Duprat JP, Carraro DM, Krepischi AC. LINE-1 hypomethylation and mutational status in cutaneous melanomas . J Investig Med. 2016 Apr;64(4):899-904. doi: 10.1136/jim-2016-000066. Epub 2016 Mar 10. PMID: 26965315.

46. Quinet A, Martins DJ, Vessoni AT, Biard D, Sarasin A, Stary A, Menck CFM. Translesion synthesis mechanisms depend on the nature of DNA damage in UV-irradiated human cells . Nucleic Acids Res. 2016 Jul 8;44(12):5717-31. doi: 10.1093/nar/gkw280. Epub 2016 Apr 19

47. Renaudin X, Koch Lerner L, Menck CFM, Rosselli F. The ubiquitin family meets the Fanconi anemia proteins . Mutat Res Rev Mutat Res. 2016 Jul-Sep;769:36-46. doi: 10.1016/j.mrrev.2016.06.004. Epub 2016 Jun 23.

48. Rocha CR, Kajitani GS, Quinet A, Fortunato RS, Menck CFM . NRF2 and glutathione are key resistance mediators to temozolomide in glioma and melanoma cells . Oncotarget. 2016 Jul 26;7(30):48081-48092. doi: 10.18632/oncotarget.10129

49. Rodini CO, Kaid C, Nakahata AM, Pereira MC, Matushita H, Costa SS, Okamoto OK. Establishment of a novel human medulloblastoma cell line characterized by highly aggressive stem-like cells . Cytotechnology. 2016, Aug;68(4):1545-60. doi: 10.1007/s10616-015-9914-5.

50. Rosenberg C , Freitas ÉL, Uehara DT, Auricchio MT, Costa SS, Oiticica J; Silva AG, Krepischi AC, Mingroni-Netto RC. Short Report - Clinical Genetics Genomic copy number alterations in non-syndromic hearing loss . Clin Genet. 2016 Apr;89(4):473-477. doi: 10.1111/cge.12683. Epub 2015 Nov 10

51. Savastano CP, Brito LA, Faria ÁC, Setó-Salvia N, Peskett E, Musso CM, Alvizi L, Ezquina SA, James C, GOSgene, Beales P, Lees M, Moore GE, Stanier P, Passos-Bueno MR. Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants. Clin Genet. 2017 May;91(5):683-689. doi: 10.1111/cge.12823. Epub 2016 Jul 26.

52. 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

53. Scorza FA, Cavalheiro EA, Scorza CA, Ferraz HB. Sudden unexpected death in Parkinson's disease: Perspectives on what we have learned about sudden unexpected death in epilepsy (SUDEP). Epilepsy Behav. Apr;57(Pt A):124-5. doi: 10.1016/j.yebeh.2016.01.035. Epub 2016 Mar 3.

54. Tairum CA, Santos MC, Breyer CA, Geyer RR, Nieves CJ, Portillo-Ledesma S, Ferrer-Sueta G, Toledo JC Jr, Toyama MH, Augusto O, Netto LE, de Oliveira MA. Catalytic Thr or Ser Residue Modulates Structural Switches in 2-Cys Peroxiredoxin by Distinct Mechanisms . Sci Rep. 2016 Sep 15;6:33133. doi: 10.1038/srep33133. PubMed PMID: 27629822; PubMed Central PMCID: PMC5024103.

55. Tsuruta LR, Lopes dos Santos M, Yeda FP, Okamoto OK, Moro AM. Genetic analyses of Per.C6 cell clones producing a therapeutic monoclonal antibody regarding productivity and long-term stability . Appl Microbiol Biotechnol. 2016 Dec;100(23):10031-10041. Epub 2016 Sep 27.

56. Vainzof M , Feitosa L, Ayub-Guerrieri, D, Canovas M, Pavanello RCM, Zatz M. Concordant utrophin upregulation in phenotypically discordant DMD/BMD brothers . Neuro muscul Disord. 2016;26(3):197-200. doi: 10.1016/ j.nmd.2016.01.001. Epub 2016 Jan 25.

57. Vessoni AT(a), Herai RH, Karpiak JV, Leal AM, Trujillo CA, Quinet A, Agnez Lima LF, Menck CFM. Muotri AR. Cockayne Syndrome-derived neurons display reduced synapse density and altered neural network synchrony . Hum Mol Genet. 2016 Apr 1;25(7):1271-80. doi: 10.1093/hmg/ddw008. Epub 2016 Jan 10

58. Vessoni AT(b), Quinet A, Andrade-Lima LC, Martins DJ, Garcia CC, Rocha CR, Vieira DB, Menck CFM. Chloroquine-induced glioma cells death is associated with mitochondrial membrane potential loss, but not oxidative stress . Free Radic Biol Med. 2016 Jan;90:91-100. doi: 10.1016/j.freeradbiomed.2015.11.008. Epub 2015 Nov 11

59. Villela D, Suemoto CK, Pasqualucci CA, Grinberg LT, Rosenberg C. Copy number changes in CACNA2D2, CACANA2D3, and CACNA1D constitute a predisposing risk factor for Alzheimer’s disease? Front Genet. 2016; 7: 107.Published online 2016 Jun 14. doi: 10.3389/fgene.2016.00107

60. Villela D, Ramalho RF, Silva ART, Brentani H, Suemoto CK, Pasqualucci CA, Grinberg LT, Krepischi ACV, Rosenberg C. Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer’s Disease Individuals . Neural Plasticity (Online). v.2016, p.1 - 10, 2016b. https://doi.org/10.1155/2016/2584940

61. Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Adès LC, Bertola DR, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP. Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. Am J Hum Genet. 2016 Aug4;99(2):392-406. doi: 10.1016/j.ajhg.2016.05.024

62. Yeh E, Atique R, Fanganiello RD, Sunaga DY, Ishiy FA, Passos-Bueno MR. Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome. Stem Cells Dev. 2016 Aug 15;25(16):1249-60. doi: 10.1089/scd.2016.0018. Epub 2016 Jun 23.

63. Zatz M, Passos-Bueno MR, Vainzof M . Neuromuscular disorders: genes, genetic counseling and therapeutic trials . Genet Mol Biol. 2016;39(3):339-48. doi: 10.1590/1678-4685-GMB-2016-0019.