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Publicações 2018

Publicações 2018

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1. Almeida MF, Silva CM, Chaves RS, Lima NCR, Almeida RS, Melo, K.P, Demasi M, Fernandes T, Oliveira EM, Netto LES, Cardoso SM, Ferrari MF. Effects of mild running on substantia nigra during early neurodegeneration . J Sports Sci. 2018 Jun;36(12):1363-1370. doi: 10.1080/02640414.2017.1378494. Epub 2017 Sep 12

2. De Armas MI, Esteves R, Viera N, Reyes AM, Mastrogiovanni M, Alegria TGP, Netto LES, Tórtora V, Radi R, Trujillo M. Rapid peroxynitrite reduction by human peroxiredoxin 3: Implications for the fate of oxidants in mitochondria. Free Radic Biol Med. 2018 Nov 2;130:369-378.

3. Batissoco A, Salazar-Silva R, Oiticica J, BENTO R, Mingroni-Netto RC, Haddad L. A Cell Junctional Protein Network Associated with Connexin-26. Int J Mol Sci. 2018 Aug 27;19(9). pii: E2535. doi: 10.3390/ijms19092535.

4. Baran LCP, da Costa MF, Vidal KS, Damico FM, Barboni MTS, da S Lima D, de C R de M França V, Martins CMG, Tabares HS, Dias SL, Silva LA, Decleva D, Hamer RD, Zatz M, Bertozzi APAP, Gazeta RE, Passos SD, Ventura DF. Alterations in visual acuity and visual development in infants 1-24 months old either exposed to or infected by Zika virus during gestation, with and without microcephaly. J AAPOS. 2019 Aug;23(4):215.e1-215.e7. doi: 10.1016/j.jaapos.2019.03.005. Epub 2019 Jun 20.

5. Bertola DR , Hsia G, Alvizi L, Gardham A, Wakeling EL, Yamamoto GL, Honjo RS, Oliveira LAN, Di Francesco RC, Perez BA, Kim CA, Passos-Bueno MR. Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum. Clin Genet. 2018 Apr;93(4):800-811. Doi: 10.1111/cge.13169. Epub 2018 Feb 20.

6. Bessa DS, Maschietto M, Aylwin CF, Canton APM, Brito VN, Macedo DB, Cunha-Silva M, Palhares HMC, de Resende EAMR, Borges MF, Mendonca BB, Netchine I, Krepischi AC, Lomniczi A, Ojeda SR, Latronico AC. Methylome profiling of healthy and central precocious puberty girls. Clin Epigenetics. 2018 Nov 22;10(1):146. doi: 10.1186/s13148-018-0581-1.

7. Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, Otto PA, Mingroni-Netto RC. Waardenburg syndrome: Novel mutations in a large Brazilian sample. Eur J Med Genet. 2018 Jun;61(6):348-354. doi: 10.1016/j.ejmg.2018.01.012. Epub 2018 Jan 31.

8. Caires-Júnior LC, Goulart E, Melo US, Araujo BSH, Alvizi L, Soares-Schanoski A, de Oliveira DF, Kobayashi GS, Griesi-Oliveira K, Musso CM, Amaral MS, da Silva LF, Astray RM, Suárez-Patiño SF, Ventini DC, Gomes da Silva S, Yamamoto GL, Ezquina S, Naslavsky MS, Telles-Silva KA, Weinmann K, van der Linden V, van der Linden H, de Oliveira JMR, Arrais NRM, Melo A, Figueiredo T, Santos S, Meira JCG, Passos SD, de Almeida RP, Bispo AJB, Cavalheiro EA, Kalil J, Cunha-Neto E, Nakaya H, Andreata-Santos R, de Souza Ferreira LC, Verjovski-Almeida S, Ho PL, Passos-Bueno MR, Zatz M. Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells. Nat Commun. 2018 Feb 2;9(1):475. doi: 10.1038/s41467-017-02790-9.

9. Carneiro TN, Krepischi AC, Costa SS, Tojal da Silva I,Vianna-Morgante AM, Valieris R, Ezquina SA, Bertola DR, Otto PA, Rosenberg C. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. Appl Clin Genet. 2018. doi: 10.2147/TACG.S165799. eCollection 2018.

10. Cavalcante de Andrade Silva M, Krepischi AC, Kulikowski LD, Zanardo EA, Nardinelli L, Leal AM, Costa SS, Muto NH, Rocha V, Velloso EDRP. Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia. Cancer Genet. 2018 Apr;222-223:32-37. doi: 10.1016/j.cancergen.2018.01.002

11. Ceroni JR, Yamamoto GL, Honjo RS, Kim CA, Passos-Bueno MR, Bertola DR. Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? Genet Mol Biol. 2018 Jan-Mar;41(1):85-91. doi: 10.1590/1678-4685-GMB-2017-0172. Epub 2018 Feb 19.

12. Correa FA, Jorge AA, Nakaguma M, Canton AP, Costa SS, Funari MF, Lerario AM, Franca MM, Carvalho LR, Krepischi AC, Arnhold IJ, Rosenberg C, Mendonca BB. Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes. Clinical endocrinology 88:425-431 doi: 10.1111/cen.13535. Epub 2018 Jan 10

13. Dantas VGL, Raval MH, Ballesteros A, Cui R, Gunther LK, Yamamoto GL, Alves LU, Bueno AS, Lezirovitz K, Pirana S, Mendes BCA, Yengo CM, Kachar B, Mingroni-Netto RC. Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss. Sci Rep. 2018 Jun 7;8(1):8706. doi: 10.1038/s41598-018-26818-2

14. de Farias AA, Nunes K, Lemes RB, Moura R, Fernandes GR, Melo US , Zatz M, Kok F, Santos S. Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations. Sci Rep. 2018 Nov 8;8(1):16552. doi: 10.1038/s41598-018-35022-1.

15. Dos Santos A, Campagnari F, Krepischi AC, Ribeiro Câmara ML, de Arruda Brasil RCE, Vieira L,Vianna-Morgante AM, Otto PA, Pearson PL, Rosenberg C. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion. Chromosome Research volume 26, pages191–198(2018) Published: 12 May 2018 doi: 10.1007/s10577-018-9578-z.

16. Duarte JTC, Jardim AP, Comper SM, De Marchi LR, Gaça LB, Garcia MTFC, Sandim GB, Assunção-Leme IB, Carrete H Jr, Centeno RS, Lancellotti CLP, Jackowski AP, Cavalheiro EA, Guaranha MSB, Yacubian EMT. The impact of epilepsy duration in a series of patients with mesial temporal lobe epilepsy due to unilateral hippocampal sclerosis. Epilepsy Res. 2018 Nov;147:51-57. doi: 10.1016/j.eplepsyres.2018.08.009. Epub 2018 Aug 23.

17. Fortunato RS, Gomes LR, Munford V, Pessoa CF, Quinet A, Hecht F, Kajitani GS, Milito CB, Carvalho DP, Menck CFM . DUOX1 Silencing in Mammary Cell Alters the Response to Genotoxic Stress. Oxid Med Cell Longev. 2018 Apr 19;2018:3570526. doi: 10.1155/2018/3570526. eCollection 2018.

18. Gomes JP, Coatti GC, Valadares MC, Assoni AF, Pelatti MV, Secco M, Zatz M. Human Adipose-Derived CD146 + Stem Cells Increase Life Span of a Muscular Dystrophy Mouse Model More Efficiently than Mesenchymal Stromal Cells. DNA Cell Biol. 2018 Sep;37(9):798-804. doi: 10.1089/dna.2018.4158. Epub 2018 Jul 30

19. Griesi-Oliveira K, Suzuki AM, Alves AY, Mafra ACCN, Yamamoto GL, Ezquina S, Magalhães YT, Forti FL, Sertie AL, Zachi EC, Vadasz E, Passos-Bueno MR. Actin cytoskeleton dynamics in stem cells from autistic individuals. Sci Rep. 2018 Jul 24;8(1):11138. doi: 10.1038/s41598-018-29309-6.

20. Guimarães Marques MJ, Reyes-Garcia SZ, Marques-Carneiro JE, Lopes-Silva LB, Andersen ML, Cavalheiro EA, Scorza FA, Scorza CA. Long-term Potentiation Decay and Poor Long-lasting Memory Process in the Wild Rodents Proechimys from Brazil's Amazon Rainforest. Front Behav Neurosci. 2018 Jan 23;12:2. doi: 10.3389/fnbeh.2018.00002. eCollection 2018.

21. Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F. A novel complex neurological phenotype due to a homozygous mutation in FDX2. Brain. 2018 Aug 1;141(8):2289-2298. doi: 10.1093/brain/awy172

22. Homma TK, Krepischi AC, Furuya TK, Honjo RS, Malaquias AC, Bertola DR, Costa SS, Canton AP, Roela RA, Freire BL, Kim CA, Rosenberg C, Jorge AAL. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause Hormone research in paediatrics. Horm Res Paediatr. 2018;89(1):13-21. doi: 10.1159/000481777. Epub 2017 Nov 9.

23. Hsia GSP, Musso CM, Alvizi L, Brito LA, Kobayashi GS, Pavanello RCM, Zatz M, Gardham A, Wakeling E, Zechi-Ceide RM, Bertola DR, Passos-Bueno MR. Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. Front Genet. 2018 Apr 25;9:149. doi: 10.3389/fgene.2018.00149. eCollection 2018.

24. Ishiy FAA, Fanganiello RD, Kobayashi GS, Kague E, Kuriki PS, Passos-Bueno MR. CD105 is regulated by hsa-miR-1287 and its expression is inversely correlated with osteopotential in SHED. Bone. 2018 Jan;106:112-120. doi: 10.1016/j.bone.2017.10.014. Epub 2017 Oct 13.

25. Kague E, Witten PE, Soenens M, Campos CL, Lubiana T, Fisher S, Hammond C, Brown KR, Passos-Bueno MR, Huysseune A. Zebrafish sp7 mutants show tooth cycling independent of attachment, eruption and poor differentiation of teeth. Dev Biol. 2018 Mar 15;435(2):176-184. doi: 10.1016/j.ydbio.2018.01.021. Epub 2018 Feb 2.

26. Kaid C, Goulart E, Caires-Júnior LC, Araujo BHS, Soares-Schanoski A, Bueno HMS, Telles-Silva KA, Astray RM, Assoni AF, Júnior AFR, Ventini DC, Puglia ALP, Gomes RP, Zatz M, Okamoto OK. Zika Virus Selectively Kills Aggressive Human Embryonal CNS Tumor Cells In Vitro and In Vivo. Cancer Res. 2018 Jun 15;78(12):3363-3374. doi: 10.1158/0008-5472.CAN-17-3201. Epub 2018 Apr 26. PubMed PMID: 29700002

27. Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E. Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. J Bone Miner Res. 2018 Apr;33(4):753-760. doi: 10.1002/jbmr.3348. Epub 2018 Jan 4.

28. Lemes RB, Nunes K, Carnavalli JEP, Kimura L, Mingroni-Netto RC, Meyer D; Otto PA. Inbreeding estimates in human populations: Applying new approaches to an admixed Brazilian isolate. PLoS One. 2018 Apr 24;13(4):e0196360. doi: 10.1371/journal.pone.0196360. eCollection 2018.

29. Lostal W, Urtizberea JA, Richard I; calpain 3 study group (Vainzof M) . 233rd ENMC International Workshop:: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15-17 September 2017. Neuromuscul Disord. 2018 Jun;28(6):540-549. doi: 10.1016/j.nmd.2018.03.010. Epub 2018 Mar 28. No abstract available.

30. Malcher C, Yamamoto GL, Burnham P, Ezquina SAM, Lourenço NCV, Balkassmi S, Antonio DSM, Hsia GSP, Gollop T, Pavanello RC, Lopes MA, Bakker E,Zatz M, Bertola DR, Vlaminck I, Passos-Bueno MR. Development of a comprehensive noninvasive prenatal test. Genet Mol Biol. 2018 Jul/Sept.;41(3):545-554. doi: 10.1590/1678-4685-GMB-2017-0177. Epub 2018 Jul 16.

31. Malvezzi JVM, IH Magalhaes, Costa SS, Otto PA,Rosenberg C, Bertola DR, Fernandes WLM, Vianna-Morgante AM, Krepischi AC. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. Hum Genome Var. 2018 Mar 29;5:18010. doi: 10.1038/hgv.2018.10. eCollection 2018

32. Mariano FV, Saccomani LFV, Giovanetti K, Del Negro A, Kowalski LP, Krepischi AC, Altemani A. Genomic profile of a squamous cell carcinoma ex pleomorphic adenoma compared to a head and neck squamous cell carcinoma . Braz J Otorhinolaryngol. 2018 May - Jun;84(3):393-397. doi: 10.1016/j.bjorl.2015.11.015. Epub 2016 Feb 24

33. Mehrjouy MM, Fonseca ACS, Ehmke N, Paskulin G, Novelli A, Benedicenti F, Mencarelli MA, Renieri A, Busa T, Missirian C, Hansen C, Abe KT, Speck-Martins CE, Vianna-Morgante AM, Bak M, Tommerup N. Regulatory variants of FOXG1 in the context of its topological domain organisation. Eur J Hum Genet. 26 (2): 186-196, 2018. doi: 10.1038/s41431-017-0011-4.

34. Melo US, de Souza Leite F, Costa S, Rosenberg C, Zatz M. A fast method to reprogram and CRISPR/Cas9 gene editing from erythroblasts. Stem Cell Res. 2018 Aug;31:52-54. doi: 10.1016/j.scr.2018.07.002. Epub 2018 Jul 4

35. Melo US, Freua F, Lynch DS, Ripa BD, Tenorio RB, Saute JAM, de Souza Leite F, Kitajima J, Houlden H, Zatz M, Kok F. Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations. Clin Genet. 2018 Nov;94(5):482-483. doi: 10.1111/cge.13428. Epub 2018 Sep 10 No abstract available.

36. Melo TQ, Copray SJCVM, Ferrari MF. Alpha-Synuclein Toxicity on Protein Quality Control, Mitochondria and Endoplasmic Reticulum. Neurochem Res. 2018 Dec;43(12):2212-2223. doi: 10.1007/s11064-018-2673-x. Epub 2018 Oct 28.

37. Mingroni-Netto, R.C . Por dentro do círculo: O DNA mitocondrial. Genética na Escola (on line). , v.13, p.2 - , 2018.

38. Moreno NC, Garcia CCM, Rocha CRR, Munford V, Menck CFM. ATR/Chk1 pathway is activated by oxidative stress in response to UVA light in human Xeroderma Pigmentosum Variant cells. Photochem Photobiol. [Epub ahead of print] 2018.

39. Nem de Oliveira Souza I, Frost PS, França JV, Nascimento-Viana JB, Neris RLS, Freitas L, Pinheiro DJLL, Nogueira CO, Neves G, Chimelli L, De Felice FG, Cavalheiro EA, Ferreira ST, Assunção-Miranda I, Figueiredo CP, Da Poian AT, Clarke JR. Acute and chronic neurological consequences of early-life Zika virus infection in mice. Sci Transl Med. 2018 Jun 6;10(444). pii: eaar2749. doi: 10.1126/scitranslmed.aar2749.

40. Nonose RW, Lezirovitz K, de Mello Auricchio MTB, Batissoco AC, Yamamoto GL, Mingroni-Netto RC. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects. BMC Medical Genetics. , v.19, p.73 - , 2018.

41. Paquola ACM, Asif H, Pereira CAB, Feltes BC, Bonatto D, Lima WC, Menck CFM. Horizontal Gene Transfer Building Prokaryote Genomes: Genes Related to Exchange Between Cell and Environment are Frequently Transferred. J Mol Evol 86 (3-4): 190-203. 2018.

42. Piccirillo E, Alegria TGP, Discola KF, Cussiol JRR, Domingos RM, de Oliveira MA, Rezende L, Netto LES, Amaral AT. Structural insights on the efficient catalysis of hydroperoxide reduction by Ohr: Crystallographic and molecular dynamics approaches. PLoS One. 2018, May 21;13(5):e0196918. doi: 10.1371/journal.pone.0196918. eCollection 2018. PubMed PMID: 29782551; PubMed Central PMCID: PMC5962072.

43. Quinet A, Lerner, LK, Martins DJ, Menck CFM. Filling gaps in translesion DNA synthesis in human cells. Mutation Res Gen Tox En, 2018. Epub online.

44. Reyes-Garcia SZ, de Almeida AG, Ortiz-Villatoro NN, Scorza FA, Cavalheiro EA, Scorza CA. Robust Network Inhibition and Decay of Early-Phase LTP in the Hippocampal CA1 Subfield of the Amazon Rodent Proechimys. Front Neural Circuits. 2018 Oct 4;12:81. doi: 10.3389/fncir.2018.00081. eCollection 2018.

45. Reyes-Garcia SZ, Scorza CA, Araújo NS, Ortiz-Villatoro NN, Jardim AP, Centeno R, Yacubian EMT, Faber J, Cavalheiro EA. Different patterns of epileptiform-like activity are generated in the sclerotic hippocampus from patients with drug-resistant temporal lobe epilepsy. Sci Rep. 2018 May 8;8(1):7116. doi: 10.1038/s41598-018-25378-9.

46. Rocha CRR, Silva MM, Quinet A, Cabral-Neto JB, Menck CFM . DNA repair pathways and cisplatin resistance: an intimate relationship. Clinics (Sao Paulo) 73(suppl 1): e478s. 2018.

47. Rocha MC, de Godoy KF, Bannitz-Fernandes R, Fabri JHTM, Barbosa MMF, de Castro PA, Almeida F, Goldman GH, da Cunha AF, Netto LES, de Oliveira MA, Malavazi I. Analyses of the three 1-Cys Peroxiredoxins from Aspergillus fumigatus reveal thatcytosolic Prx1 is central to H(2)O(2) metabolism and virulence. Sci Rep. 2018 Aug17;8(1):12314. doi: 10.1038/s41598-018-30108-2. PubMed PMID: 30120327; PubMedCentral PMCID: PMC6098058.

48. Rodini CO, Gonçalves da Silva PB, Assoni AF, Carvalho VM , Okamoto OK. Mesenchymal stem cells enhance tumorigenic properties of human glioblastoma through independent cell-cell communication mechanisms. Oncotarget. 2018 May15;9(37):24766-24777. doi: 10.18632/oncotarget.25346. eCollection 2018 May 15.PubMed PMID: 29872504; PubMed Central PMCID: PMC5973871.

49. Sánchez-Sánchez SM, Magdalon J, Griesi-Oliveira K, Yamamoto GL, Santacruz-Perez C, Fogo M, Passos-Bueno MR, Sertié AL. Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder. Hum Mutat. 2018 Oct;39(10):1372-1383. doi: 10.1002/humu.23584. Epub 2018 Jul 26.

50. Santos CS, Bannitz-Fernandes R, Lima AS, Tairum CA, Malavazi I, Netto LES, Bertotti M. Monitoring H(2)O(2) inside Aspergillus fumigatus with an Integrated Microelectrode: The Role of Peroxiredoxin Protein Prx1. Anal Chem. 2018 Feb20;90(4):2587-2593. doi: 10.1021/acs.analchem.7b04074. Epub 2018 Jan 30. PubMedPMID: 29345916

51. Soares de Lima Y, Chiabai M, Shen J, Córdoba MS, Versiani BR, Benício ROA, Pogue R, Mingroni-Netto RC, Lezirovitz K, Pic-Taylor A, Mazzeu JF, Oliveira SF. Syndromic hearing loss molecular diagnosis: application of massive parallel sequencing. HEARING RESEARCH. , v.1, p.1 - , 2018.

52. Tamayo MV, Schuch AP, Yagura T, Gil LB, Menck CFM, Sánchez-Lamar A . Genoprotective Effect of Phyllanthus orbicularis Extract Against UVA, UVB, and Solar Radiation. Photochem Photobiol 94(5): 1026-1031. 2018.

53. Villela D, Suemoto CK, Leite R, Pasqualucci CA, Grinberg LT, Pearson P, Rosenberg C. Increased DNA copy number variation mosaicism in elderly human brain. Appl Clin Genet. 2018 Aug 22;11:93-98. doi: 10.2147/TACG.S165799. eCollection 2018.

54. Wyatt EJ, Demonbreun AR, Kim EY, Puckelwartz MJ, Vo AH, Dellefave-Castillo LM, Gao QQ, Vainzof M, Pavanello RCM, Zatz M, McNally EM. Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers. JCI Insight. 2018 May 3; 3(9): e99357. Published online 2018 May 3. doi: 10.1172/jci.insight.99357

55. Zatz M , Caires Junior LC, Goulart E, Souto MU, Araujo BHS, Schanoski AS, Verjovski-Almeida S, Passos-Bueno MR. Congenital Zika syndrome (CZS): lessons from twins. Nat Commun. 2018 Feb 2;9(1):475. doi: 10.1038/s41467-017-02790-9.

56. Zatz M . Helping our country as women scientists. Nat Cell Biol. 2018 Sep;20(9):1012. doi: 10.1038/s41556-018-0161-9. No abstract available. 2018

 

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