INCT




Publicações dos pesquisadores do INCT Envelhecimento e Doenças Genéticas

Publicações dos pesquisadores do INCT Envelhecimento e Doenças Genéticas

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Julho de 2020 a junho de 2021

1. Almeida CF, Bitoun M, Vainzof, M. Satellite cells deficiency and defective regeneration in dynamin 2-related centronuclear myopathy. Faseb Journal, 2021. Faseb J 2021 Apr;35(4):e21346. doi: 10.1096/fj.202001313RRR.

2. Amaral MS, Goulart E, Caires-Júnior LC, Morales-Vicente DA, Soares-Schanoski A, Gomes RP, Olberg GGO, Astray RM, Kalil JE, Zatz M, Verjovski-Almeida S. Differential gene expression elicited by ZIKV infection in trophoblasts from congenital Zika syndrome discordant twins. PLOS Neglected Tropical Diseases, August 3, 2020

3. Antunes LN, Kimura L, Lemes RB, Mingroni-Netto RC, Batissoco AC. O gene GJB2: da audição ao silêncio. Genética na Escola (on line)., v.16, p.156 - 165, 2021.

4. Assis RAB, Varani AM, Sagawa CHD, Patané JSL, Setubal JC, Uceda-Campos G, da Silva AM, Zaini PA, Almeida NF, Moreira LM, Dandekar AM. A comparative genomic analysis of Xanthomonas arboricola pv. juglandis population reveals the role of mobile genetic elements associated with adaptation and evolution of virulence. Genomics, Volume 113, Issue 4, Pages 2513-2525, 2021.

5. Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M, Takahashi V, Aguena M, Gollop T, Zatz M , Passos-Bueno MR , Krepischi A, Keith Okamoto O. Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer. Breast Cancer, 2021, Mar;28(2):346-354. doi: 10.1007/s12282-020-01165-1.

6. Barreto ICDP, Barreto BAP, Cavalcante EGDN, Condino Neto A. Immunological deficiencies: more frequent than they seem to be. J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1:S49-S58. doi: 10.1016/j.jped.2020.10.009. Epub 2020 Nov 22

7. Bastard P, et al. (Condino-Neto A). Autoantibodies against type I IFNs in patients with life-threatening COVID-19. Science. 2020 Oct 23;370(6515):eabd4585. doi: 10.1126/science.abd4585. Epub 2020 Sep

8. Batissoco AC, Lezirovitz K, Zanata DB, Hemza CRML, Vasques LR, Strauss BE, Mingroni-Netto RC, Haddad LA, Bento RF, Oiticica J. Cochlea cell-specific marker expression upon in vitro Hes1 knockdown. Brazilian Journal of Medical and Biological Research (on line), v.54, p.e10579 - , 2021.

9. Bazán PR, Azevedo Neto RM, Dias JA, Salvatierra VG, Sanches LG, Lacerda SS, Amaro Junior E, Kozasa EH, Balardin JB. COVID-19 information exposure in digital media and implications for employees in the health care sector: findings from an online survey. Einstein (Sao Paulo). 2020 Dec 7;18:eAO6127. doi: 10.31744/einstein_journal/2020AO6127. eCollection 2020

10. Bertola DR, Castro MAA, Yamamoto GL, Honjo RS, Ceroni JR, Buscarilli MM, Freitas AB, Malaquias AC, Pereira AC, Jorge AAL, Passos-Bueno MR, Kim CA. Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):896-911. doi: 10.1002/ajmg.c.31851.

11. Borges JB, Oliveira VF, Glaucio Monteiro Ferreira GM, Bruna Los B, Barbosa TKAA, Marçal ESR, Dagli-Hernandez C, Freitas RCC, Bortolin RH, Mori AA, Hirata TDC, Nakaya HTI, Bastos GM, Thurow HS, Gonçalves RM, Araujo DB, Zatz HP, Bertolami A, Faludi AA, Bertolami MC, Sousa AGMR, João Ítalo Dias França JID, Cinthia Elim Jannes CE, Pereira AC, Nakazone MA, Souza DRS, Carmo TS, Sampaio MF, Gorjão R, Pithon-Curi TC, Moriel P, Silbiger VNLuchessi AD, Araújo JNG, Naslavsky MS, Wang JYT, Kronenberger T, Cerda A, Lin-Wang HT, Garofalo AR, Fajardo CM, Hirata RDC, Hirata MH. Genomics, epigenomics and pharmacogenomics of Familial Hypercholesterolemia (FHBGEP): A study protocol. Research in Social and Administrative Pharmacy, 2020. DOI: 10.1016/j.sapharm.2020.10.007

12. Braga L, Coutinho FH, Amgarten DE, Kot W, Hansen L, Setubal JC, Philippot L. Novel virocell metabolic potential revealed in agricultural soils by virus-enriched soil metagenome analysis. Environmental Microbiology Reports, Volume13, Issue3 -June 2021-Pages 348-354, https://doi.org/10.1111/1758-2229.12939.

13. Braga LPP, Spor A, Kot W, Breuil MC, Hansen LH, Setubal JC, Philippot L. Impact of phages on soil bacterial communities and nitrogen availability under different assembly scenarios. Microbiome, 6;8(1):52, 2020. https://doi.org/10.1186/s40168-020-00822-z

14. Bride L, Naslavsky M, Yamamoto GL, Scliar M, Pimassoni LH, Sossai Aguiar P, de Paula F, Wang J, Duarte Y, Passos-Bueno MR, Zatz M, Imbroisi Valle Errera F. TCF7L2 rs7903146 polymorphism association with diabetes and obesity in an elderly cohort from Brazil. PeerJ. 2021 May 5;9:e11349. doi: 10.7717/peerj.11349. eCollection 2021.PMID: 33996288

15. Bueno ASB, Nunes K, Dias AMM, Alves LU, Mendes BCA, Sampaio-Silva J, SMITS J, Yntema HG, Meyer D; Lezirovitz K, Mingroni-Netto RC. Frequency and origin of the c.2090T>C p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss. European Journal of Human Genetics., v.6may, p.s41431-021-0089 -, 2021.

16. Bueno DF, Kabayashi GS, Pinheiro CCG, Tanikawa DYS, Raposo-Amaral CE, Rocha DL, Ferreira JRM, Shibuya Y, Hokugo A, Jarrahy R, ZuK PA, Passos-Bueno MR. Human levator veli palatini muscle: a novel source of mesenchymal stromal cells for use in the rehabilitation of patients with congenital craniofacial malformations. Stem Cell Res Ther. 2020 Nov 25;11(1):501. doi: 10.1186/s13287-020-02017-7.PMID: 33239080

17. Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR , Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1 -related disorders. J Med Genet. 2021 Jan 12:jmedgenet-2020-107459. doi: 10.1136/jmedgenet-2020-107459.

18. Caires-Júnior LC, Goulart E, Telles-Silva KA, Silva Araujo BH, Musso CM, Kobayashi G, Oliveira D, Assoni A, Carvalho VM, Ribeiro-Jr AF, Ishiba R, Braga KAO, Nepomuceno N, Caldini E, Rangel T, Raia S, Lelkes PI, Zatz M. Pre-coating decellularized liver with HepG2-conditioned medium improves hepatic recellularization. Materials Science and Engineering: C, January 17, 2021doi: 10.1016/j.msec.2020.111862. Epub 2021 Jan 7.

19. Caires-Junior C, Goulart E, Zatz M. Host genetic susceptibility to ZIKV congenital syndrome: A tale of twins. In: Hollins-Martin C, Preedy V, Rajendram R. Zika Virus Biology, Transmission and Pathways - The Neuroscience of Zika Virus. Cambridge: Academic Press, v1. 2021, 576 p.

20. Capelozzi VL, Fabro AT, Machado-Rugolo J, Baldavira CM, Prieto T, Farhat C, Mangone F, Batah S, Cruvinel H, Alda M, Monteiro JS, Padua A, Morais S, Oliveira R, Santos M, Baddini J, Setubal JC, Rainho C, Yoo HHB, Silva PL, Nagai MA. Circulating plasma miRNA and clinical/hemodynamic characteristics provide additional predictive information about acute pulmonary thromboembolism, chronic thromboembolic pulmonary hypertension and idiopathic pulmonary hypertension. Frontiers in Pharmacology, Section Respiratory Pharmacology. Accepted. 2021 May 28;12:648769. doi: 10.3389/fphar.2021.648769.

21. Casaro MB, Thomas AM, Mendes E, Fukumori C, Ribeiro WR, de Oliveira FA, Crisma AR, Murata GM, Bizzarro B, Sá-Nunes A, Setubal JC, Mayer MPA, Martins FS, Vieira AT, Antiorio ATFB, Tavares de-Lima W, Camara NOS, Curi R, Dias-Neto E, Ferreira CM. A probiotic has differential effects on allergic airway inflammation in A/J and C57BL/6 mice and is correlated with the gut microbiome. Microbiome. Accepted (2021) 9:134 https://doi.org/10.1186/s40168-021-01081-2.

22. Chiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Hum Mutat. 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129.

23. Contier ATR, Alonso NB, Araújo NS, Taura M, Cavalheiro EA. Challenges in the treatment of a chronic disease: A study of narratives of people with juvenile myoclonic epilepsy. Seizure. 2021 Apr 6;S1059-1311(21)00118-7. doi: 10.1016/j.seizure.2021.04.004.

24. Costa-Riquetto AD, Santana LS, Caetano LA, Lerário AM, Correia-Deur JEM, Bertola DR, Kim CA, Nery M, Jorge AAL, Teles MG. Targeted massively parallel sequencing for congenital generalized lipodystrophy. Arch Endocrinol Metab. 2020 Aug 28:S2359-39972020005006201. doi: 10.20945/2359-3997000000278.

25. Davila CK, Zatz M. Questioning the Use of Zika Virus Injection in Dogs with Advanced-Stage Brain Tumors. Mol Ther. 2021 Jan 6;29(1):6-7. doi: 10.1016/j.ymthe.2020.12.013. Epub 2020 Dec 11

26. de Araujo TA, Oliveira IM, da Silva TGV, Roediger MA, Duarte YAO. Health conditions and weight change among the older adults over ten years of the SABE Survey. Epidemiol Serv Saude. 2020 Sep 25;29(4):e2020102. doi: 10.1590/S1679-49742020000400012. eCollection 2020.

27. de Faria DD, Paulo AJM, Balardin J, Sato JR, Junior EA , Baltazar CA, Lucca RPD, Borges V, Silva SMCA, Ferraz HB, de Carvalho Aguiar P Task-related brain activity and functional connectivity in upper limb dystonia: a functional magnetic resonance imaging (fMRI) and functional near-infrared spectroscopy (fNIRS) study. Neurophotonics. 2020 Oct;7(4):045004. doi: 10.1117/1.NPh.7.4.045004. Epub 2020 Oct 19

28. de Pedro-Jové R, Puigvert M, Sebastià P, Macho AP, Monteiro JS, Coll NS, Setubal JC, Valls M. Dynamic expression of Ralstonia solanacearum virulence factors and metabolism-controlling genes during plant infection. BMC Genomics, 12 (170), 2021. doi: 10.1186/s12864-021-07457-w

29. Deolindo CS, Ribeiro MW, de Aratanha MAA, Scarpari JRS, Forster CHQ, da Silva RGA, Machado BS, Amaro Junior E, König T, Kozasa EH. Microstates in complex and dynamical environments: Unraveling situational awareness in critical helicopter landing maneuvers. Hum Brain Mapp. 2021 Jul;42(10):3168-3181. doi: 10.1002/hbm.25426. Epub 2021 May 4.

30. do Nascimento CF, Dos Santos HG, Batista AFM, Lay AAR, Duarte YAO, Alexandre Dias Porto Chiavegatto Filho. Cause-specific mortality prediction in older residents of São Paulo, Brazil: a machine learning approach. Age Ageing. 2021 May 3;afab067. doi: 10.1093/ageing/afab067. Online ahead of print.

31. do Nascimento FS, Suzuki MO,Taba JV, de Mattos VC, Pipek LZ, D’Albuquerque MC, Iuamoto L,Meyer A, Andraus W, Pinho JRR, Hourneaux de Moura EG, Setubal JC, Carneiro-D’Albuquerque LA. Analysis of biliary MICRObiota in hepatoBILIOpancreatic diseases compared to healthy people [MICROBILIO]: Study protocol. PLoS ONE, 10.1371/JOURNAL.PONE.0242553, 2020.

32. Delinocente LCB, de Carvalho THT, Máximo RO, Chagas MHN, Santos JLF, Oliveira Duarte YAO, Steptoe A, de Oliveira C, Alexandre TS. Accuracy of different handgrip values to identify mobility limitation in older adults. Arch Gerontol Geriatr. May-Jun 2021;94:104347. doi: 10.1016/j.archger.2021.104347. Epub 2021 Jan 19.

33. Faber J. Antoneli PC, Araújo NS, Pinheiro DJLL, Cavalheiro EA. Critical elements for connectivity analysis of brain networks In: Functional Brain Mapping: Methods and Aims, pg 67-107 2020, Original Paper.

34. Felestrino EB, Sanchez AB, Caneschi WL, Lemes CGC, Assis RAB, Cordeiro IF, Fonseca NP, Villa MM, Vieira IT, Kamino LHY, do Carmo FF, da Silva AM, Thomas AM, Patané JSL, Ferreira FC, de Freitas LG, Varani AM, Ferro JA, Silva RS, Almeida NF, Garcia CCM, Setubal JC, Moreira LM. Complete genome sequence and analysis of Alcaligenes faecalis strain Mc250, a new potential plant bioinoculant. PLoS ONE, 10.1371/JOURNAL.PONE.0241546, 2020.

35. Ferreira LSS, Butarelli ACA, Sousa RC, de Oliveira MA, Moraes PHG, Ribeiro IS, Sousa PFR, Dall'Agnol HMB, Lima ARJ, Gonçalves EC, Sivonen K, Fewer D, Franco RR, Piroupo CM, da Silva AM, Setubal JC, Dall'Agnol LT. High-quality draft genome sequence of Pantanalinema sp. GBBB05, a cyanobacterium from Cerrado biome. Frontiers in Ecology and Evolution, section Phylogenetics, Phylogenomics, and Systematics. Accepted. Front. Ecol. Evol., 17 June 2021 https://doi.org/10.3389/fevo.2021.639852.

36. Ferreira CE, Bonvehi PE, de la Torre JCG, Sáenz-Flor KV, Condino-Neto A. Algorithms for testing COVID-19 focused on use of RT-PCR and high-affinity serological testing: A consensus statement from a panel of Latin American experts. Int J Infect Dis. 2021 Feb;103:260-267. doi: 10.1016/j.ijid.2020.11.173. Epub 2020 Nov 21

37. Figueiredo T, Mendes APD, Moreira DP, Goulart E, Oliveira D, Kobayashi GS, Stern S, Kok F, Marchetto MC, Santos R, Gage FH, Zatz M. Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis, Molecular Psychiatry 8, 24, 2020 Mol Psychiatry. 2020 Aug 24. doi: 10.1038/s41380-020-00862-9.

38. França MSJ, Zatz M. O legado dos genes: O que a ciência pode nos ensinar sobre o envelhecimento. São Paulo: Ed. Objetiva, 2021.155 p.

39. Galleni L L, Santos SL, Nogueira L, Pavanello RCM, Gurgel-Giannetti J, Reed UC, Oliveira ASB, Cuperman T, Cotta A FPJ, Zatz M , Vainzof M. Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients. Acta Myol. 2020 Dec 1;39(4):274-282. doi: 10.36185/2532-1900-030. eCollection 2020 Dec.

40. Girardello R, Piroupo CM, Martins JJr, Maffucci MH, Cury AP, Franco MRG, Malta FM, Rocha NC, Pinho JRR, Rossi F, Duarte AJS, Setubal JC. Genomic characterization of mcr-1.1-producing Escherichia coli recovered from human infections in São Paulo, Brazil. Frontiers in Microbiology, Section Antimicrobials, Resistance and Chemotherapy, v12, 663414, 2021.

41. Graça TUS, Santos AL, Yamamoto GL, de Souza RW, Srougé MPP, Pacheco RL,Lima C, Riera R. Telemonitoring programme on COVID-19 for a low-income community in Brazil: case study. BMJ Innov. 2021 Mar : bmjinnov-2020-000619.Published online 2021 Mar 17. doi: 10.1136/bmjinnov-2020-000619

42. Henrique AM, Gianetti NG, Ferrari MFR. Parkin is downregulated among autophagy-related proteins prior to hyperphosphorylation of Tau in TS65DN mice. Biochem Biophys Res Commun. 2021 Jul 5;561:59-64. doi: 10.1016/j.bbrc.2021.05.016. Epub 2021 M

43. Hinckel BB, Baumann CA, Ejnisman L, Cavinatto LM, Martusiewicz A, Tanaka MJ, Tompkins M, Sherman SL, Chahla JA, MD, Frank R, Yamamoto GL, Bicos J, Arendt L, Fithian D, Farr J. Evidence-based Risk Stratification for Sport Medicine Procedures During the COVID-19 Pandemic. JAAOS: Global Research and Reviews: October 2020 - Volume 4 - Issue 10 - p e20.00083 doi: 10.5435/JAAOSGlobal-D-20-00083

44. Honjo RS, Castro MAA, Ferraciolli SF, Soares Junior LAV, Pastorino AC, Bertola DR, Miyake N, Matsumoto N, Kim CA. Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics. Am J Med Genet A. 2021 May;185(5):1561-1568. doi: 10.1002/ajmg.a.62140.

45. Hsia GSP, Esposito J, da Rocha LA, Ramos SLG, Okamoto OK. Clinical Application of Human Induced Pluripotent Stem Cell-Derived Organoids as an Alternative to Organ Transplantation. Stem Cells Int. 2021 Feb 24;2021:6632160. doi: 10.1155/2021/6632160. eCollection 2021.PMID: 33679987

46. Jardim AP, Duarte JTC, Lancellotti CLP, Carrete H Jr, Centeno RS, Scorza CA, Cavalheiro EA, Guaranha MSB, Yacubian EMT. Granule cell dispersion is associated with hippocampal neuronal cell loss, initial precipitating injury, and other clinical features in mesial temporal lobe epilepsy and hippocampal sclerosis. Seizure. 2021 May 31:S1059-1311(21)00182-5. doi: 10.1016/j.seizure.2021.05.024. Online ahead of print

47. Kaid C, Sherwood M, TMitsugi T, Zatz M. Zika virus as an oncolytic therapy against brain tumors. In: Martin C, Hollins-Martin C, Preedy V, Rajendram R. Zika Virus Biology, Transmission, and Pathways - The Neuroscience of Zika Virus. Cambridge: Academic Press, v1. 2021, 576 p.

48. Kerbauy LN, Marin ND, Kaplan M, Banerjee PP, Berrien-Elliott MM, Becker-Hapak M, Basar R, Foster M, Garcia Melo L, Neal CC, McClain E, Daher M, Nunez Cortes AK, Desai S, Inng Lim FW, Mendt MC, Schappe T, Li L, Shaim H, Shanley M, Ensley EL, Uprety N, Wong P, Liu E, Ang SO, Cai R, Nandivada V, Mohanty V, Miao Q, Shen Y, Baran N, Fowlkes NW, Chen K, Muniz-Feliciano L, Champlin RE, Nieto YL, Koch J, Treder M, Fischer W, Okamoto OK, Shpall EJ, Fehniger TA, Rezvani K. Combining AFM13, a Bispecific CD30/CD16 Antibody, with Cytokine-Activated Blood and Cord Blood-Derived NK Cells Facilitates CAR-like Responses Against CD30 + Malignancies. Clin Cancer Res. 2021 May 13. doi: 10.1158/1078-0432.CCR-21-0164. Online ahead of print.PMID: 33986022.

49. Klionsky DJ, Ferrari MFR, Outros E. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition). Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280. Epub 2021 Feb 8.

50. Kobayashi GS, Musso CM, Moreira DP, Pontillo-Guimarães G, Hsia GSP, Caires-Júnior LC, Goulart E, Passos-Bueno MR. Recapitulation of Neural Crest Specification and EMT via Induction from Neural Plate Border-like Cells. Stem Cell Reports. 2020 Sep 8;15(3):776-788. doi: 10.1016/j.stemcr.2020.07.023. Epub 2020 Aug 27.PMID: 32857981 Free PMC article.

51. Ladin ZS, Ferrell B, Dums JT, Moore RM, Levia DF, Shriver WG, DAmico V, Trammell TLE, Setubal JC, Wommack KE. Assessing the efficacy of eDNA metabarcoding for measuring microbial biodiversity within forest ecosystems. Scientific Reports. 2021. 15;11(1):1629. doi: 10.1038/s41598-020-80602-9, 2021.

52. Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Işık E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. Genomics England Research Consortium, Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M.Am J Hum Genet. 2021 Jan 7;108(1):115-133. doi: 10.1016/j.ajhg.2020.11.015.

53. Louzada S, Algady W, Weyell E, Zuccherato LW, Brajer P, Almalki F, Scliar MO, Naslavsky MS, Yamamoto GL,Duarte YAO, Passos-Bueno MR, Zatz M, Yang F, Hollox EJ. Structural variation of the malaria-associated human glycophorin A-B-E region. BMC Genomics. 2020 Jun 29;21(1):446. doi: 10.1186/s12864-020-06849-8.PMID: 32600246 Free PMC article.

54. Mahadevaraju S, Fear JM, Akeju M, Galletta BJ, Pinheiro MMLS, Avelino CC, Cabral-de-Mello DC, Conlon K, Dell'Orso S, Demere Z, Mansuria K, Mendonça CA, Palacios-Gimenez OM, Ross E, Savery M, Yu K, Smith HE, Sartorelli V, Yang H, Rusan NM, Vibranovski MD, Matunis E, Oliver B. Dynamic sex chromosome expression in Drosophila male germ cells. Nat Commun. 2021 Feb 9;12(1):892. doi: 10.1038/s41467-021-20897-y. PMID: 33563972; PMCID: PMC7873209.

55. Melo US, Bonner D, Lloyd KCK, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, Leite FS, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM. Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. Genet Med, . 2021 Apr;23(4):661-668. doi: 10.1038/s41436-020-01047-z. Epub 2021 Jan 8

56. Mejía-Granados DM, Villasana-Salazar B, Lozano-García L, Cavalheiro EA, Pasquale Striano P. Gut-microbiota-directed strategies to treat epilepsy: clinical and experimental evidence. Seizure. 2021 Mar 13;S1059-1311(21)00081-9. doi: 10.1016/j.seizure.2021.03.009.

57. Moosa S, GL Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, de Menezes C, Lausch E, Lorini PV, Lamounier Jr A, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmuller J, Nurnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C. Severe Osteogenesis imperfecta with oligodontia: think of MESD. Eur. J. Hum. Genet, 2020, v. 28, Ed. Springe nature pg 248-250.

58. Naslavsky MS, Scliar MO, Nunes K, Wang J,Yamamoto GL, Guio H, Tarazona-Santos E,Duarte YAO, Passos-Bueno MR, Meyer D, Zatz M. Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals. American Journal of Medical Genetics: Part C (in press). doi: 10.1002/ajmg.c.31931.

59. Naslavsky MS, Scliar MO, Yamamoto GL, Wang JYT, Zverinova S, Karp T, Nunes K, Ceroni JRM, de Carvalho DL, da Silva Simões CE, Bozoklian D, Nonaka R, Silva NSB, da Silva Souza A, de Souza Andrade H, Passos MRS, Castro CFB, Mendes-Junior CT, Mercuri RLV, Miller TLA, Buzzo JL, Rego FO, Araújo NM, Magalhães WC, Célia Mingroni-Netto R, Borda V, Guio H, Barreto ML, Lima-Costa MF, Horta BL, Tarazona-Santos E,Meyer D, Galante PAF, Guryev V,Castelli EC, Duarte YAO, Passos-Bueno MR, Zatz M. Whole-genome sequencing of 1,171 elderly admixed individuals from the largest Latin American metropolis (São Paulo, Brazil). Preprint at bioRXiv, 2020. https://doi.org/10.1101/2020.09.15.298026.

60. Naslavsky MS, Vidigal M, Matos LRB, Cória VR, Batista Junior PB, Razuk A, Saldiva PHN, Dolhnikoff M, Schidlowski L, Prando C, Cunha-Neto E, Condino-Neto A, Passos-Bueno MR, Zatz M. Extreme phenotypes approach to investigate host genetics and COVID-19 outcomes. Genetics and Molecular Biology, 2021. doi: 10.1590/1678-4685-GMB-2020-0302.

61. Nóbrega JCL, Medeiros JB, Santos TTM, Alves SAV, Freitas JLGS, Silva JMM, Simões RFM, Brito AL, Weller M, Santos JLF, Menezes TN,Duarte YAO, Zatz M, Matheson D, Santos S. Socioeconomic factors and health status disparities associated with difficulty in ADLs and IADLs among long-lived populations in Brazil: a cross-sectional study. Inquiry. Jan-Dec 2021;58:469580211007264. doi: 10.1177/00469580211007264.

62. Nóbrega JCL, Medeiros JB, Santos TTM, Alves SAV, Javanna Lacerda Gomes da Silva Freitas, Jaíza MM Silva, Raisa Fernandes Mariz Simões, Allisson de Lima Brito, Mathias Weller, Jair Lício de Ferreira Santos, Tarciana Nobre Menezes, Duarte YAO, Zatz M, Matheson D, Santos S. Socioeconomic Factors and Health Status Disparities Associated with Difficulty in ADLs and IADLs among Long-Lived Populations in Brazil: A Cross-Sectional Study. Inquiry. Jan-Dec 2021;58:469580211007264. doi: 10.1177/00469580211007264

63. Noronha RM, Villares SMF, Torres N, Quedas EPS, Homma TK, Albuquerque EVA, Moraes MB, Funari MFA, Bertola DR, Jorge AAL, Malaquias AC. Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile. Am J Med Genet A. 2021 Mar;185(3):774-780. doi: 10.1002/ajmg.a.62039.

64. Nunes K, Kimura L, Gontijo CC, Paiva SG, Arcanjo AC, Mingroni-Netto RC, Oliveira SF. Estudos de dinâmica populacional, ancestralidade genética e saúde em comunidades quilombolas: relato de uma experiência. Tessituras: Revista de Antropologia e Arqueologia, v.8, p.218 - 251, 2020.

65. Oliveira D, Verjovski-Almeida S, Zatz M. Phenotypic heterogeneity in amyotrophic lateral sclerosis type 8 and modifying mechanisms of neurodegeneration. Neural Regen Res. 2021 Sep;16(9):1776-1778. doi: 10.4103/1673-5374.303030.

66. Oliveira EJP, Alves LC, Duarte YAO, de Andrade FB. Edentulism-free life expectancy among older Brazilian adults: SABE study, 2006-2016. Gerodontology. 2021 Feb 9. doi: 10.1111/ger.12541. Online ahead of print.

67. Oliveira AMB, Marques AP, Silva BCS, Teixeira D, Menezes FS, Duarte YAO, Santos JLF, Casarotto RA. The 15-years trajectory of the Health, Well-being and Aging (SABE) study in São Paulo State, Brazil. September 2020 The European Journal of Public Health 30(5):1, doi:10.1093/eurpub/ckaa166.1341.

68. Pessoa DO, Rius FE, Papaiz D, Ayub ALP, Morais AS, de Souza CF, da Paixão VF, Setubal JC, Newton-Bishop J, Nsengimana J, Azevedo H, Reis EM, Jasiulionis MG. Transcriptional signatures underlying dynamic phenotypic switching and malignancy in a linear cellular model of melanoma progression. Neoplasia, 23(4): 439-455, 2021. https://doi.org/10.1016/j.neo.2021.03.007.

69. Pierry PM, de Santana WO, Kitajima JP, Martins-Junior J, Zaini PA, Uceda-Campos G, Feitosa-Junior OR, Pessoa PIS, Coletta-Filho HD, de Souza AA, Machado MA, Gesteira ADS, Martins LF, Amaral MS, Beckedorff FC, de Almeida LGP, de Vasconcelos ATR, Verjovski-Almeida S, Setubal JC, da Silva AM. High-Quality Draft Genome Sequence Resources of Eight Xylella fastidiosa Strains Isolated from Citrus, Coffee, Plum, and Hibiscus in South America. Phytopathology. 2020 Nov;110(11):1751-1755. doi: 10.1094/PHYTO-05-20-0162-A. Epub 2020 Sep 10.

70. Pires LVL, Bordim RA, Maciel MBR, Tanaka ACS,Yamamoto GL, Honjo RS, Kim CA, Bertola DR. Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant. Am J Med Genet A. 2021 Jun 3. doi: 10.1002/ajmg.a.62376.

71. Pires SF, Tolezano GC, da Costa SS, Kawahira RSH, Kim CA, Rosenberg C, Teixeira ACB, Bertola DR, Krepischi ACV. Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma. Pediatr Blood Cancer. 2020 Nov;67(11):e28376. doi: 10.1002/pbc.28376.

72. Raeisossadati R, Ferrari MFR. Mitochondria-ER Tethering in Neurodegenerative Diseases. Cell Mol Neurobiol. 2020 Nov 16. doi: 10.1007/s10571-020-01008-9. Online ahead of print. PMID: 33196974 Review.

73. Raeisossadati R, Ferrari MFR, Kihara AH, Aldiri I, Gross JM. Epigenetic regulation of retinal development. Epigenetics & Chromatin, Epigenetics Chromatin. 2021 Feb 9;14(1):11. doi: 10.1186/s13072-021-00384-w.

74. Rajpurohit CS, Kumar V, Cheffer A, Oliveira D, Ulrich H, Okamoto OK, Zatz M, Ansari UA, Khanna VK, Pant AB. Mechanistic Insights of Astrocyte-Mediated Hyperactive Autophagy and Loss of Motor Neuron Function in SOD1 L39R Linked Amyotrophic Lateral Sclerosis. Mol Neurobiol. 2020 Oct;57(10):4117-4133. doi: 10.1007/s12035-020-02006-0. Epub 2020 Jul 16

75. Ribeiro F, Duarte YAO, Santos JLF, Leist A. Prevalence of memory impairment 2000-2015 in Sao Paolo, Brazil. 7 December 2020. https://doi.org/10.1002/ alz.045895.

76. Rodrigues MF, Vibranovski MD, Cogni R. Clinal and seasonal change are correlated in Drosophila melanogaster natural populations. Evolution. 2021 Jun 28. doi: 10.1111/evo.14300. Online ahead of print

77. Salazar-Silva R, Dantas S VLG, Alves L, Batissoco AC, Oiticica J, Lawrence EA, Kawafi A, Yang Y, Nicastro FS, Novaes BC, Hammond C, Kague E, Mingroni-Netto RC. NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss. Hum Mol Genet, 2021 Jan 21;29(22):3691-3705. doi: 10.1093/hmg/ddaa240.

78. Segundo GRS, Condino-Neto A. Treatment of patients with immunodeficiency: Medication, gene therapy, and transplantation. J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1:S17-S23. doi: 10.1016/j.jped.2020.10.005. Epub 2020 Nov 9.PMID: 33181112 .

79. Souza LS, Almeida CF, Yamamoto GL, Pavanello RCM, Gurgel-Giannetti J, da Costa SS, Anequini IP, do Carmo SA, Wang JYT, Scliar MO, Castelli EC, Otto PA, Zanoteli E, Vainzof M. Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype. Neurol Genet. 2020 Sep 4;6(5):e513. doi: 10.1212/NXG.0000000000000513.

80. Souza LS, Calyjur P, Ribeiro AF Jr, Gurgel-Giannetti J, Pavanello RCM, Zatz M, Vainzof M. Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita. Mol Neurosci. 2021 Jan 19. doi: 10.1007/s12031-020-01785-4. Online ahead of print.PMID: 33464536.

81. Sanabria V, Bittencourt S, Perosa SR, de la Rosa T, Naffah-Mazzacoratti MG, Andersen ML, Tufik S, Cavalheiro EA, Amado D. Hormonal and biochemical changes in female Proechimys guyannensis, an animal model of resistance to pilocarpine-induced status epilepticus. Sci Rep,. 2020 Dec 2;10(1):20982. doi: 10.1038/s41598-020-77879-1.

82. Santos TR, Kaid C, Araújo DD, Neville IS, Uno M, Zatz M, Okamoto OK. Ex vivo expansion of tumor infiltrating lymphocytes (tils) and cancer stem cells from malignant gliomas. Cytotherapy, Volume 23, Issue 4, Supplement, April 2021, Pages 15-16

83. Sato APS, de Andrade FB, Duarte YAO, Antunes JLF. Vaccine coverage and factors associated with influenza vaccination in the elderly in the city of São Paulo, Brazil: SABE Study 2015. Cad Saude Publica. 2020;36 Suppl 2:e00237419. doi: 10.1590/0102-311x00237419. Epub 2020 Aug 31.

84. Sato FT, Yap YA, Crisma AR, Portovedo M, Murata GM, Hirabara SM, Ribeiro WR, Marcantonio Ferreira C, Cruz MM, Pereira JNB, Payolla TB, Guima SES, Thomas AM, Setubal JC, Alonso-Vale MIC, Santos MF, Curi R, Marino E, Vinolo MAR. Tributyrin Attenuates Metabolic and Inflammatory Changes Associated with Obesity through a GPR109A-Dependent Mechanism. Cells. 2020; 9(9):2007. https://doi.org/10.3390/cells9092007

85. Scliar MO, Sant'Anna HP, Santolalla ML, Leal TP, Araújo NM, Alvim I, Borda V, Magalhães WCS, Gouveia MH, Lyra R, Machado M, Michelin L, Rodrigues MR, Araújo GS, Kehdy FSG, Zolini C, Peixoto SV, Luizon MR, Lobo F, Naslavsky MS, Yamamoto GL, Duarte YAO, Hansen MEB, Norris SA, Gilman RH, Guio H, Hsing AW, Mbulaiteye SM, Mensah J, Dutil J, Yeager M, Yeboah E, Tishkoff SA, Choudhury A, Ramsay M, Passos-Bueno MR, Zatz M, O Connor TD, Pereira AC, Barreto ML, Lima-Costa MF, Horta BL, Tarazona-Santos E. Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes. Int J Obes (Lond). 2021 May;45(5):1017-1029. doi: 10.1038/s41366-021-00761-1. Epub 2021 Feb 26.PMID: 33633342

86. Secolin R, de Araujo TK, Gonsales MC, Rocha CS,Naslavsky M, De Marco L, Bicalho MAC, Vazquez VL, Zatz M, Silva WA, Lopes-Cendes I. Genetic variability in COVID-19-related genes in the Brazilian population . Human Genome variation, 4-2-2021 doi: https://doi.org/10.1101/2020.12.04.411736

87. Secolin R, Gonsales MC, Cristiane S Rocha, Naslavsky M , De Marco L, Bicalho MAC, Vazquez VL, Zatz M, Silva WA, Lopes-Cendes I. Exploring a Region on Chromosome 8p23. 1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related disorders. Front Genet., 2021 Mar 25;12:636542. doi: 10.3389/fgene.2021.636542. eCollection 2021.

88. Simões RFM, Nóbrega JCL, Barbosa J, Santos TTM, Olinda RA, Menezes TN,Duarte YAO, Zatz M, Alves LU, Santos S. Happiness, Subjective Well-Being, and Life Satisfaction: A Compared Study between Long-Lived Elderly People in Northeast and Southeast Brazil. Global Journal of Health Sciences, 2021 doi:10.5539/gjhs.v13n1p89

89. Singer JM, Rocha FMM, Pedroso-de-Lima AC, Silva GL, Coatti GC, Zatz M. Random changepoint segmented regression with smooth transition. Statistical Methods in Medical Research. Stat Methods Med Res. 2021 Mar;30(3):643-654. doi: 10.1177/0962280220964953. Epub 2020 Nov 4

90. Souza LS, Calyjur P, Ribeiro AF Jr, Gurgel-Giannetti J, Pavanello RCM, Zatz M, Vainzof M. Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita. J Mol Neurosci. 2021 Jan 19. doi: 10.1007/s12031-020-01785-4. Online ahead of print.PMID: 33464536.

91. Souza LS, Almeida CF, Yamamoto GL, Pavanello RCM, Gurgel-Giannetti J, da Costa SS, Anequini IP, do Carmo SA, Wang JYT, Scliar MO, Castelli EC, Otto PA, Zanoteli E, Vainzof M. Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype. Neurol Genet. 2020 Sep 4;6(5):e513. doi: 10.1212/NXG.0000000000000513.

92. Tolezano GC, Costa SS, Scliar MO, Fernandes WLM, Otto PA, Bertola DR, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication. Int J Mol Cell Med. Fall 2020;9(4):296-306. doi: 10.22088/IJMCM. BUMS.9.4.296. Epub 2021 Jan 27.

93. Vainzof M, Gurgel-Giannetti J. Muscle regeneration in spastic muscles of children with cerebral palsy. Developmental Medicine & Child Neurology, in press, may 2021 doi: 10.1111/dmcn.14953

94. Vieira LM, Jorge NAN, de Sousa JB, Setubal JC, Stadler PF, Walter MET. Competing Endogenous RNA in Colorectal Cancer: an analysis for colon, rectum and rectosigmoid junction. Frontiers in Oncology, section Molecular and Cellular Oncology. v11, 681579, 2021.

95. Zhang Q, et al (Condino-Neto A). Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science. 2020 Oct 23;370(6515):eabd4570. doi: 10.1126/science.abd4570. Epub 2020 Sep.

 

 

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