INCT

Publicações dos pesquisadores do INCT Envelhecimento e Doenças Genéticas

Julho de 2018 a junho de 2019

1. Almeida LGD, Cruz DBD, Mingroni Netto RC, Batissoco AC, Oiticica J, Silva RS. Stem-cell therapy for hearing loss: are we there yet? Braz J Otorhinolaryngol. 2019 May 18. pii: S1808-8694(19)30035-7. doi: 10.1016/j.bjorl.2019.04.006. [Epub ahead of print] Review.

2. Amann RI, Baichoo S, Blencowe BJ, Bork P, Borodovsky M, Brooksbank C, Chain PSG, Colwell RR, Daffonchio DG, Danchin A, de Lorenzo V, Dorrestein PC, Finn RD, Fraser CM, Gilbert JA, Hallam SJ, Hugenholtz P, Ioannidis JPA, Jansson JK, Kim JF, Klenk HP, Klotz MG, Knight R, Konstantinidis KT, Kyrpides NC, Mason CE, McHardy AC, Meyer F, Ouzounis CA, Patrinos AAN, Podar M, Pollard KS, Ravel J, Muñoz AR, Roberts RJ, Rosselló-Móra R, Sansone SA, Schloss PD, Schriml LM, Setubal JC, Sorek R, Stevens RL, Tiedje JM, Turjanski A, Tyson GW, Ussery DW, Weinstock GM, White O, Whitman WB, Xenarios I. Consent insufficient for data release-Response. Science. 2019 May 3;364(6439):446. doi: 10.1126/science.aax7509. No abstract available.

3. Amann RI, Baichoo S, Blencowe BJ, Bork P, Borodovsky M, Brooksbank C, Chain PSG, Colwell RR, Daffonchio DG, Danchin A, de Lorenzo V, Dorrestein PC, Finn RD, Fraser CM, Gilbert JA, Hallam SJ, Hugenholtz P, Ioannidis JPA, Jansson JK, Kim JF, Klenk HP, Klotz MG, Knight R, Konstantinidis KT, Kyrpides NC, Mason CE, McHardy AC, Meyer F, Ouzounis CA, Patrinos AAN, Podar M, Pollard KS, Ravel J, Muñoz AR, Roberts RJ, Rosselló-Móra R, Sansone SA, Schloss PD, Schriml LM, Setubal JC, Sorek R, Stevens RL, Tiedje JM, Turjanski A, Tyson GW, Ussery DW, Weinstock GM, White O, Whitman WB, Xenarios I. Toward unrestricted use of public genomic data.Science. 2019 Jan 25;363(6425):350-352. doi: 10.1126/science.aaw1280. No abstract available

4. Amgarten D, Braga LPP, da Silva AM, Setubal JC. MARVEL, a Tool for Prediction of Bacteriophage Sequences in Metagenomic Bins. Front Genet. 2018 Aug 7;9:304. doi: 10.3389/fgene.2018.00304. eCollection 2018.

5. Antonioli E, Torres N, Ferretti M, Piccinato CA, Sertie AL. Individual response to mTOR inhibition in delaying replicative senescence of mesenchymal stromal cells. PLoS One. 2019 Jan 31;14(1):e0204784. doi: 10.1371/journal.pone.0204784. eCollection 2019.

6. 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.

7. Barreiros LA, Segundo GRS, Grumach AS, Roxo-Júnior P, Torgerson TR, Ochs HD, Condino-Neto A. A Novel Homozygous JAK3 Mutation Leading to T-B+NK- SCID in Two Brazilian Patients. Front Pediatr. 2018 Aug 20;6:230. doi: 10.3389/fped.2018.00230. eCollection 2018. Erratum in: Front Pediatr. 2018 Nov 23;6:358.

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

9. Batista AX, Bazán PR, Conforto AB, Martins MDGM, Hoshino M, Simon SS, Hampstead B, Figueiredo EG, Castro MP, Michelan D, Amaro Jr E, Miotto EC. Resting state functional connectivity and neural correlates of face-name encoding in patients with ischemic vascular lesions with and without the involvement of the left inferior frontal gyrus. Cortex. 2019 Apr;113:15-28. doi: 10.1016/j.cortex.2018.11.016. Epub 2018 Nov 26.

10. Boisson-Dupuis S, Ramirez-Alejo N, Li Z, Patin E, Rao G, Kerner G, Lim CK, Krementsov DN, Hernandez N, Ma CS, Zhang Q, Markle J, Martinez-Barricarte R, Payne K, Fisch R, Deswarte C, Halpern J, Bouaziz M, Mulwa J, Sivanesan D, Lazarov T, Naves R, Garcia P, Itan Y, Boisson B, Checchi A, Jabot-Hanin F, Cobat A, Guennoun A, Jackson CC, Pekcan S, Caliskaner Z, Inostroza J, Costa-Carvalho BT, de Albuquerque JAT, Garcia-Ortiz H, Orozco L, Ozcelik T, Abid A, Rhorfi IA, Souhi H, Amrani HN, Zegmout A, Geissmann F, Michnick SW, Muller-Fleckenstein I, Fleckenstein B, Puel A, Ciancanelli MJ, Marr N, Abolhassani H, Balcells ME, Condino-Neto A, Strickler A, Abarca K, Teuscher C, Ochs HD, Reisli I, Sayar EH, El-Baghdadi J, Bustamante J, Hammarström L, Tangye SG, Pellegrini S, Quintana-Murci L, Abel L, Casanova JL. Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant. Sci Immunol. 2018 Dec 21;3(30). pii: eaau8714. doi: 10.1126/sciimmunol.aau8714.

11. Bulubas L, Padberg F, Bueno PV, Duran F, Busatto G, Amaro Jr E, Benseñor IM, Lotufo PA, Goerigk S, Gattaz W, Keeser D, Brunoni AR. Antidepressant effects of tDCS are associated with prefrontal gray matter volumes at baseline: Evidence from the ELECT-TDCS trial . Brain Stimul. 2019 May 8. pii: S1935-861X(19)30213-X. doi: 10.1016/j.brs.2019.05.006. [Epub ahead of print]

12. 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 Aug 22;11:93-98. doi: 10.2147/TACG.S165799. eCollection 2018.

13. Ceroni JRM, Spolador GM, Bermeo DS, Honjo RS, de Oliveira LAN, Bertola DR, Kim CA. Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III. Skeletal Radiol. 2019 Feb 2. doi: 10.1007/s00256-019-3159-x. [Epub ahead of print]

14. Ceroni JRM, Dutra RL, Honjo RS, Llerena JC Jr, Acosta AX, Medeiros PFV, Galera MF, Zanardo ÉA, Piazzon FB, Dias AT, Novo-Filho GM, Montenegro MM, Madia FAR, Bertola DR, de Melo JB, Kulikowski LD, Kim CA. A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability. Sci Rep. 2018 Sep 6;8(1):13382. doi: 10.1038/s41598-018-31754-2.

15. Ceroni JRM, Soares DCQ, Testai LC, Kawahira RSH, Yamamoto GL, Sugayama SMM, Oliveira LAN, Bertola DR, Kim CA. Natural history of 39 patients with Achondroplasia. Clinics (Sao Paulo). 2018 Jul 2;73:e324. doi: 10.6061/clinics/2018/e324.

16. Coatti GC, Cavaçana N, Zatz M. The Role of Pericytes in Amyotrophic Lateral Sclerosis. Adv Exp Med Biol. 2019;1147:137-146.

17. Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA, Escobar L, McWalter K, McLaughlin H, Willaert R, Begtrup A, Alm JJ, Reinhardt DP, Mäkitie O, Campeau PM. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". Bone. 2019 Apr;121:163-171. doi: 10.1016/j.bone.2018.12.020. Epub 2018 Dec 30.

18. Comim CM, Ventura L, Freiberger V, Dias P, Bragagnolo D, Dutra ML, Amaral RA, Camargo-Fagundes ALS, Reis PA, Castro-Faria-Neto HC, Vainzof M, Rosa MI. Neurocognitive Impairment in mdx Mice. Mol Neurobiol. 2019 May 10. doi: 10.1007/s12035-019-1573-7. [Epub ahead of print]

19. Conforto AB, Servinsckins L, de Paiva JPQ, Amaro E Jr, Dos Santos DG, Soares P, Pires DS, Meltzer J, Plow EB, de Freitas PF, Speciali DS, Lopes P, Peres MFP, Silva GS, Lacerda S, Boasquevisque DS. Safety of cathodal transcranial direct current stimulation early after ischemic stroke. Brain Stimul. 2019 Mar - Apr;12(2):374-376. doi: 10.1016/j.brs.2018.11.009. Epub 2018 Nov 20. No abstract available.

20. Da Silva LF, Beckedorff FC, Ayupe AC, Amaral MS, Mesel V, Videira A, Reis EM, Setubal JC, Verjovski-Almeida S. Chromatin Landscape Distinguishes the Genomic Loci of Hundreds of Androgen-Receptor-Associated LincRNAs From the Loci of Non-associated LincRNAs. Front Genet. 2018 Apr 25;9:132. doi: 10.3389/fgene.2018.00132. eCollection 2018.

21. 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.

22. De Albuquerque JAT, de Oliveira Junior EB, Zurro NB, Vendramini P, Ishizuka EK, Borgli DSP, de Souza MS, Condino-Neto A. A C126R de novo Mutation in CYBB Leads to X-linked Chronic Granulomatous Disease With Recurrent Pneumonia and BCGitis. Front Pediatr. 2018 Sep 11;6:248. doi: 10.3389/fped.2018.00248. eCollection 2018.

23. 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.

24. Dias AMM, Lezirovitz K, Nicastro FS, Mendes BCA, Mingroni-Netto RC. Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans. J Hum Genet. 2019 Mar;64(3):257-260. doi: 10.1038/s10038-018-0546-4. Epub 2018 Dec 4.

25. 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.

26. Bocangel MAP, Melo US, Alves LU; Pardono E, Lourenço NCV; Marcolino HVC; Otto P A; Mingroni-Netto RC. Waardenburg syndrome: Novel mutations in a large Brazilian sample. European Journal of Medical Genetics. , v.1, p.1 - , 2018. Eur J Med Genet. 2018 Jun;61(6):348-354. doi: 10.1016/j.ejmg.2018.01.012. Epub 2018 Jan 31

27. Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes . Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

28. 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.

29. Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de 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.

30. El-Sayed ZA, Abramova I, Aldave JC, Al-Herz W, Bezrodnik L, Boukari R, Bousfiha AA, Cancrini C, Condino-Neto A, Dbaibo G, Derfalvi B, Dogu F, Edgar JDM, Eley B, El-Owaidy RH, Espinosa-Padilla SE, Galal N, Haerynck F, Hanna-Wakim R, Hossny E, Ikinciogullari A, Kamal E, Kanegane H, Kechout N, Lau YL, Morio T, Moschese V, Neves JF, Ouederni M, Paganelli R, Paris K, Pignata C, Plebani A, Qamar FN, Qureshi S, Radhakrishnan N, Rezaei N, Rosario N, Routes J, Sanchez B, Sediva A, Seppanen MR, Serrano EG, Shcherbina A, Singh S, Siniah S, Spadaro G, Tang M, Vinet AM, Volokha A, Sullivan KE. X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world. World. Allergy Organ J. 2019 Mar 22;12(3):100018. doi: 10.1016/j.waojou.2019.100018. eCollection 2019.

31. Fachi JL, Felipe JS, Pral LP, da Silva BK, Corrêa RO, de Andrade MCP, da Fonseca DM, Basso PJ, Câmara NOS, de Sales E Souza ÉL, Dos Santos Martins F, Guima SES, Thomas AM, Setubal JC, Magalhães YT, Forti FL, Candreva T, Rodrigues HG, de Jesus MB, Consonni SR, Farias ADS, Varga-Weisz P, Vinolo MAR. Butyrate Protects Mice from Clostridium difficile-Induced Colitis through an HIF-1-Dependent Mechanism. Cell Rep. 2019 Apr 16;27(3):750-761.e7. doi: 0.1016/j.celrep.2019.03.054.

32. Fernandes JF, Nichele S, Daudt LE, Tavares RB, Seber A, Kerbauy FR, Koliski A, Loth G, Vieira AK, Darrigo-Junior LG, Rocha V, Gomes AA, Colturato V, Mantovani LF, Ribeiro AF, Ribeiro LL, Kuwahara C, Rodrigues ALM, Zecchin VG, Costa-Carvalho BT, Carneiro-Sampaio M, Condino-Neto A, Fasth A, Gennery A, Pasquini R, Hamerschlak N, Bonfim C. Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries . J Clin Immunol. 2018 Nov;38(8):917-926. doi: 10.1007/s10875-018-0564-1. Epub 2018 Nov 24.

33. França TT, Barreiros LA, Al-Ramadi BK, Ochs HD, Cabral-Marques O, Condino-Neto A. CD40 ligand deficiency: treatment strategies and novel therapeutic perspectives. Expert Rev Clin Immunol. 2019 May;15(5):529-540. doi: 10.1080/1744666X.2019.1573674. Epub 2019 Feb 18.

34. Frazão JB, Colombo M, Simillion C, Bilican A, Keller I, Wüthrich D, Zhu Z, Okoniewski MJ, Bruggmann R, Condino-Neto A, Newburger PE. Gene expression in chronic granulomatous disease and interferon-γ receptor-deficient cells treated in vitro with interferon-γ. J Cell Biochem. 2019 Mar;120(3):4321-4332. doi: 10.1002/jcb.27718. Epub 2018 Sep 27.

35. Fonseca MC, Araujo BHS, Dias CSB, Archilha NL, Neto DPA, Cavalheiro E, Westfahl H Jr, da Silva AJR, Franchini KG. High-resolution synchrotron-based X-ray microtomography as a tool to unveil the three-dimensional neuronal architecture of the brain. Sci Rep. 2018 Aug 13;8(1):12074. doi: 10.1038/s41598-018-30501-x.

36. Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFDS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, Lajoie B, Knight MA, Fischbeck KH, Singleton AB, Ferreira CR, Wang Z, Yan L, Garbern JY, Simsek-Kiper PO, Ohashi H, Robey PG, Boyde A, Matsumoto N, Miyake N, Spranger J, Schiffmann R, Vanderver A, Nishimura G, Passos-Bueno MR, Simons C, Ishikawa K, Ikegawa S. Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11.

37. 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.

38. Howe LJ, Richardson TG, Arathimos R, Alvizi L, Passos-Bueno MR, Stanier P, Nohr E, Ludwig KU, Mangold E, Knapp M, Stergiakouli E, Pourcain BS, Smith GD, Sandy J, Relton CL, Lewis SJ, Hemani G, Sharp GC. Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate. Epigenomics. 2019 Feb;11(2):133-145. doi: 10.2217/epi-2018-0091. Epub 2019 Jan 14.

39. Lima SOA, Farias AA, Albino VA, Marques-Alves YK, Olinda R, Santos-Silva TA, Alves LU, Zatz M, Santos S. A population-based study of inter-generational attitudes towards consanguineous marriages in north-eastern Brazil. J Biosoc Sci. 2019 Mar 13:1-15. doi: 10.1017/S0021932018000433. [Epub ahead of print]

40. 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. , v.13, p.e0196360 - , 2018. PLoS One. 2018 Apr 24;13(4):e0196360. doi: 10.1371/journal.pone.0196360. eCollection 2018.

41. Malaquias AC, Noronha RM, Souza TTO, Homma TK, Funari MFA, Yamamoto GL, Silva FV, Moraes MB, Honjo RS, Kim CA, Nesi-França S, Carvalho JAR, Quedas EPS, Bertola DR, Jorge AAL. Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome. Horm Res Paediatr. 2019 May 27:1-10. doi: 10.1159/000500264. [Epub ahead of print]

42. 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 D, 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.

43. Maltez Thomas A, Prata Lima F, Maria Silva Moura L, Maria da Silva A, Dias-Neto E, Setubal JC. Comparative Metagenomics. Methods Mol Biol. 2018;1704:243-260. doi: 10.1007/978-1-4939-7463-4_8.

44. Meehan C, Bonfim C, Dasso JF, Costa-Carvalho BT, Condino-Neto A, Walter J. In time: The value and global implicationsof newborn screening forsevere combined immunodeficiency. In Rev Paul Pediatr. 2018 Oct-Dec;36(4):388-397. doi: 10.1590/1984-0462/;2018;36;4;00020. English, Portuguese. No abstract available.

45. Meira JGC, Sarno MAC, Faria ÁCO, Yamamoto GL , Bertola DR, Scheibler GG, Tavares DF, Acosta AX. Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism. Rev Bras Ginecol Obstet. 2018 Sep;40(9):570-576. doi: 10.1055/s-0038-1670684. Epub 2018 Sep 19.

46. 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.

47. Misawa MYO, Silvério Ruiz KG, Nociti FH Jr, Albiero ML, Saito MT, Nóbrega Stipp R, Condino-Neto A, Holzhausen M, Palombo H, Villar CC. Periodontal ligament-derived mesenchymal stem cells modulate neutrophil responses via paracrine mechanisms. J Periodontol. 2019 Jan 15. doi: 10.1002/JPER.18-0220. [Epub ahead of print]

48. 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.

49. Melo TQ, Copray SJCVM, Ferrari MFR. 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. Review.

50. Melo KP, Silva CM, Almeida MF, Chaves RS, Marcourakis T, Cardoso SM, Demasi M, Netto LES, Ferrari MFR. Mild Exercise Differently Affects Proteostasis and Oxidative Stress on Motor Areas During Neurodegeneration: A Comparative Study of Three Treadmill Running Protocols. Neurotox Res. 2019 Feb;35(2):410-420. doi: 10.1007/s12640-018-9966-3. Epub 2018 Oct 1.

51. Moura LM, Luccas R, de Paiva JPQ, Amaro Jr E, Leemans A, Leite CDC, Otaduy MCG, Conforto AB. Diffusion Tensor Imaging Biomarkers to Predict Motor Outcomes in Stroke: A Narrative Review. Front Neurol. 2019 May 8;10:445. doi: 10.3389/fneur.2019.00445. eCollection 2019. Review.

52. 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.

53. Nonose R W; Lezirovitz K; de Mello A, Balester MT; Batissoco A C; 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. BMC Med Genet. 2018 May 8;19(1):73. doi: 10.1186/s12881-018-0585-x.

54. Oliveira D, Leal GF, Sertié AL, Caires LC Jr, Goulart E, Musso CM, Oliveira JRM, Krepischi ACV, Vianna-Morgante AM, Zatz M. 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly. J Med Genet. 2018 Oct 9. pii: jmedgenet-2018-105471. doi: 10.1136/jmedgenet-2018-105471. [Epub ahead of print]

55. Oliveira LF, Pinheiro DJLL, Rodrigues LD, Reyes-Garcia SZ, Nishi EE, Ormanji MS, Faber J, Cavalheiro EA. Behavioral, electrophysiological and neuropathological characteristics of the occurrence of hypertension in pregnant rats. Sci Rep. 2019 Mar 11;9(1):4051. doi: 10.1038/s41598-019-40969-w.

56. O'Sullivan S, Heinsen H, Grinberg LT, Chimelli L, Amaro E Jr, do Nascimento Saldiva PH, Jeanquartier F, Jean-Quartier C, da Graça Morais Martin M, Sajid MI, Holzinger A. The role of artificial intelligence and machine learning in harmonization of high-resolution post-mortem MRI (virtopsy) with respect to brain microstructure. Brain Inform. 2019 Mar 7;6(1):3. doi: 10.1186/s40708-019-0096-3.

57. Padovani de Souza K, Setubal JC, Ponce de Leon F de Carvalho AC, Oliveira G, Chateau A, Alves R. Machine learning meets genome assembly. Brief Bioinform. 2018 Aug 17. doi: 10.1093/bib/bby072. [Epub ahead of print]

58. Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC. Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. J Med Genet. 2018 Dec;55(12):837-846. doi: 10.1136/jmedgenet-2018-105528. Epub 2018 Oct 15.

59. Patané JSL, Martins J Jr, Setubal JC.Phylogenomics. Methods Mol Biol. 2018;1704:103-187. doi: 10.1007/978-1-4939-7463-4_5. Review.

60. Pereira ASA, Amaral MS, Vasconcelos EJR, Pires DS, Asif H, da Silva LF, Morales-Vicente DA, Carneiro VC, Angeli CB, Palmisano G, Fantappie MR, Pierce RJ, Setubal JC, Verjovski-Almeida S. Inhibition of histone methyltransferase EZH2 in Schistosoma mansoni in vitro by GSK343 reduces egg laying and decreases the expression of genes implicated in DNA replication and noncoding RNA metabolism. PLoS Negl Trop Dis. 2018 Oct 26;12(10):e0006873. doi: 10.1371/journal.pntd.0006873. eCollection 2018 Oct.

61. Pereira LV, Bento RF, Cruz DB, Marchi C, Salomone R, Oiticicca J, Costa MP, Haddad LA, Mingroni-Netto RC, Costa HJZR. Stem Cells from Human Exfoliated Deciduous Teeth (SHED) Differentiate in vivo and Promote Facial Nerve Regeneration. Cell Transplant. 2019 Jan;28(1):55-64. doi: 10.1177/0963689718809090. Epub 2018 Oct 31.

62. Pires FBC, Lacerda SS, Balardin JB, Portes B, Tobo PR, Barrichello CRC, Amaro E Jr, Kozasa EH. Self-compassion is associated with less stress and depression and greater attention and brain response to affective stimuli in women managers. BMC Womens Health. 2018 Nov 27;18(1):195. doi: 10.1186/s12905-018-0685-y.

63. Ramadan E, Maged M, El Hosseiny A, Chambergo FS, Setubal JC, El Dorry H. Molecular Adaptations of Bacterial Mercuric Reductase to the Hypersaline Kebrit Deep in the Red Sea. Appl Environ Microbiol. 2019 Feb 6;85(4). pii: e01431-18. doi: 10.1128/AEM.01431-18. Print 2019 Feb 15.

64. Rangel LT, Marden J, Colston S, Setubal JC, Graf J, Gogarten JP. Identification and characterization of putative Aeromonas spp. T3SS effectors. PLoS One. 2019 Jun 4;14(6):e0214035. doi: 10.1371/journal.pone.0214035. eCollection 2019.

65. Ramos PL, Kondo MY, Santos SMB, de Vasconcellos SP, Rocha RCS, da Cruz JB, Eugenio PFM, Cabral H, Juliano MA, Juliano L, Setubal JC, da Silva AM, Cappelini LTD. A Tropical Composting Operation Unit at São Paulo Zoo as a Source of Bacterial Proteolytic Enzymes. Appl Biochem Biotechnol. 2019 Jan;187(1):282-297. doi: 10.1007/s12010-018-2810-7. Epub 2018 Jun 23.

66. Mingroni-Netto RC. Aconselhamento Genético: Será que eu preciso? Genética na Escola (on line). , v.14, p.34 - 43, 2019.

67. Romanelli Tavares VL, Kague E, Musso CM, Alegria TGP, Freitas RS, Bertola DR, Twigg SRF, Passos-Bueno MR. Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1. Mol Syndromol. 2019 Feb;10(1-2):40-47. doi: 10.1159/000490635. Epub 2018 Jul

68. Sato JR, Biazoli CE Jr, Moura LM, Crossley N, Zugman A, Picon FA, Hoexter MQ, Amaro E Jr, Miguel EC, Rohde LA, Bressan RA, Jackowski AP. Association Between Fractional Amplitude of Low-Frequency Spontaneous Fluctuation and Degree Centrality in Children and Adolescents. Brain Connect. 2019 Jun;9(5):379-387. doi: 10.1089/brain.2018.0628. Epub 2019 May 1.

69. Reyes-Garcia SZ, Scorza CA, Ortiz-Villatoro NN, Cavalheiro EA. Losartan fails to suppress epileptiform activity in brain slices from resected tissues of patients with drug resistant epilepsy. J Neurol Sci. 2019 Feb 15;397:169-171. doi: 10.1016/j.jns.2019.01.008. Epub 2019 Jan 8. No abstract available.

70. 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.

71. 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.

72. Setubal JC, Stadler PF. Gene Phylogenies and Orthologous Groups. Methods Mol Biol. 2018;1704:1-28. doi: 10.1007/978-1-4939-7463-4_1.

73. Setubal JC, Almeida NF,Wattam AR. Comparative Genomics for Prokaryotes. Methods Mol Biol. 2018;1704:55-78. doi: 10.1007/978-1-4939-7463-_3.Review.

74. Silva NM, de Oliveira AMSA, Pegorin S, Giusti CE, Ferrari VB, Barbosa D, Martins LF, Morais C, Setubal JC, Vasconcellos SP, da Silva AM, de Oliveira JCF, Pascon RC, Viana-Niero C. Characterization of novel hydrocarbon-degrading Gordonia paraffinivorans and Gordonia sihwensis strains isolated from composting. PLoS One. 2019 Apr 18;14(4):e0215396. doi: 10.1371/journal.pone.0215396. eCollection 2019.

75. Simon SS, Hampstead BM, Nucci MP, Duran FLS, Fonseca LM, Martin MDGM, Ávila R, Porto FHG, Brucki SMD, Martins CB, Tascone LS, Amaro Jr E, Busatto GF, Bottino CMC. Training gains and transfer effects after mnemonic strategy training in mild cognitive impairment: A fMRI study. Int J Psychophysiol. 2019 Mar 29. pii: S0167-8760(18)30961-9. doi: 10.1016/j.ijpsycho.2019.03.014. [Epub ahead of print]

76. Simon SS, Hampstead BM, Nucci MP, Duran FLS, Fonseca LM, Martin MDGM, Ávila R, Porto FHG, Brucki SMD, Martins CB, Tascone LS, Amaro E Jr, Busatto GF, Bottino CMC . Cognitive and Brain Activity Changes After Mnemonic Strategy Training in Amnestic Mild Cognitive Impairment: Evidence From a Randomized Controlled Trial. Front Aging Neurosci. 2018 Nov 13;10:342. doi: 10.3389/fnagi.2018.00342. eCollection 2018.

77. Simões PSR, Zanelatto AO, Assis MC, Varella PPV, Yacubian EM, Carrete H, Centeno R, Araujo MS, Cavalheiro EA, Tersariol ILS, Motta G, Naffah-Mazzacoratti MDG. Plasma kallikrein-kinin system contributes to peripheral inflammation in temporal lobe epilepsy . J Neurochem. 2019 Jun 17. doi: 10.1111/jnc.14793. [Epub ahead of print]

78. 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. Hear Res. 2018 Dec;370:181-188. doi: 10.1016/j.heares.2018.10.008. Epub 2018 Oct 16.

79. Souza DC, Abreu HLV, Oliveira PV, Capelo LP, Passos-Bueno MR, Catalani LH. A fast degrading PLLA composite with a high content of functionalized octacalcium phosphate mineral phase induces stem cells differentiation. J Mech Behav Biomed Mater. 2019 May;93:93-104. doi: 10.1016/j.jmbbm.2019.02.003. Epub 2019 Feb 6.

80. Tang FHF, Staquicini FI, Teixeira AAR, Michaloski JS, Namiyama GM, Taniwaki NN, Setubal JC, da Silva AM, Sidman RL, Pasqualini R, Arap W, Giordano RJ. A ligand motif enables differential vascular targeting of endothelial junctions between brain and retina. Proc Natl Acad Sci U S A. 2019 Feb 5;116(6):2300-2305. doi: 10.1073/pnas.1809483116. Epub 2019 Jan 22.

81. Thomas AM, Manghi P, Asnicar F, Pasolli E, Armanini F, Zolfo M, Beghini F, Manara S, Karcher N, Pozzi C, Gandini S, Serrano D, Tarallo S, Francavilla A, Gallo G, Trompetto M, Ferrero G, Mizutani S, Shiroma H, Shiba S, Shibata T, Yachida S, Yamada T, Wirbel J, Schrotz-King P, Ulrich CM, Brenner H, Arumugam M, Bork P, Zeller G, Cordero F, Dias-Neto E, Setubal JC, Tett A, Pardini B, Rescigno M, Waldron L, Naccarati A, Segata N. Metagenomic analysis of colorectal cancer datasets identifies cross-cohort microbial diagnostic signatures and a link with choline degradation. Nat Med. 2019 Apr;25(4):667-678.doi: 10.1038/s41591-019-0405-7. Epub 2019 Apr 1.

82. Tofoli FA, Semeano ATS, Oliveira-Giacomelli Á, Gonçalves MCB, Ferrari MFR, Veiga Pereira L, Ulrich H. Midbrain Dopaminergic Neurons Differentiated from Human-Induced Pluripotent Stem Cells . Methods Mol Biol. 2019;1919:97-118. doi: 10.1007/978-1-4939-9007-8_8.

83. Vitor T, Kozasa EH, Bressan RA, Lacerda SS, Campos Neto GC, Batista IR, Gebrim LH, Cohen L, Amaro E Jr, Felicio AC. Impaired brain dopamine transporter in chemobrain patients submitted to brain SPECT imaging using the technetium-99m labeled tracer TRODAT-1. Ann Nucl Med. 2019 Apr;33(4):269-279. doi: 10.1007/s12149-019-01331-2. Epub 2019 Mar 7.

84. Walker CP, Pessoa ALS, Figueiredo T, Rafferty M, Melo US, Nóbrega PR, Murphy N, Kok F, Zatz M, Santos S, Cho RY. Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG. Orphanet J Rare Dis. 2019 Jan 7;14(1):3. doi: 10.1186/s13023-018-0977-1.

85. 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.

86. Zurro NB, Tavares de Albuquerque JA, França TT, Vendramini P, Arslanian C, Tavares-Scancetti F, Condino-Neto A. A novel mutation in CYBB gene in a patient with chronic colitis and recurrent pneumonia due to X-linked chronic granulomatous disease. Pediatr Blood Cancer. 2018 Dec;65(12):e27382. doi: 10.1002/pbc.27382. Epub 2018 Aug 9.