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Publicações dos pesquisadores do Genoma USP

Publicações dos pesquisadores do Genoma USP

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(Publications by the HUG-CELL researchers)

 

2022

2021

2020

2019

2018

2017

2016

2015

2014

2013

2012

2011

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2009

2008

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2002

 

 

 

 


2022

1. Aguiar T, Teixeira A, Scliar MO, Sobral de Barros J, Lemes RB, Souza S, Tolezano G, Santos F, Tojal I, Cypriano M, Caminada de Toledo SR, Valadares E, Borges Pinto R, Pinto Artigalas OA, Caetano de Aguirre Neto J, Novak E, Cristofani LM, Miura Sugayama SM, Odone V, Cunha IW, Lima da Costa CM, Rosenberg C, Krepischi A. Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes. Front Genet. 2022 Apr 12;13:858396. doi: 10.3389/fgene.2022.858396. eCollection 2022. PMID: 35495172 Free PMC article.

2. Ali TM, Linnenkamp BDW, Yamamoto GL, Honjo RS, Cabral de Menezes Filho H, Kim CA, Bertola DR. The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry. Am J Med Genet A. 2022 May;188(5):1545-1549. doi: 10.1002/ajmg.a.62651.

3. Alves-Paiva RM, do Nascimento S, de Oliveira D, Coa L, Alvarez K, Hamerschlak N, Okamoto OK, Marti LC, Kondo AT, Kutner JM, Bortolini MAT, Castro R, Preto de Godoy JA. Senescence State in Mesenchymal Stem Cells at Low Passages: Implications in Clinical Use. Frontiers in Cell and Developmental Biology, v. 10, p. 1-10, 2022.

4. Castro LP, Batista-Vieira D, de Souza TA, Timoteo ARS, Coutinho JDL, Pinheiro de Almeida IC, Henriques SRM, de Azevedo FM, Rosa RCA, Kannouche PL, Sarasin A, Menck CFM, Petta TB. XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil. Front Genet. 2022 Jan 17;12:784963. doi: 10.3389/fgene.2021.784963.

5. Castro MV, Santos KS, Apostolico JS, Fernandes ER, Rafael R Almeida RR, Levin G, Magawa JY, Nunes JPS, Bruni M, Yamamoto MM, Lima AC, Silva MVR, Matos LRB, Coria VR, Castelli EC, Scliar MO, Kuramoto A, Bruno FR, Jacintho LC, Nunes K, Wang JYT, Coelho VP, Mitne-Neto M, Maciel RMB, Naslavsky MS, Passos-Bueno MR, Boscardin SB, Rosa DS, Kalil J, Zatz M, Cunha-Neto E. Recurrence of COVID-19 associated with reduced T-cell responses in a monozygotic twin pair. Open Biology, 02 Feb 2022, 12(2):210240 DOI: 10.1098/rsob.210240

6. Comim CM, Soares JA, Alberti A, Freiberger V, Ventura L, Dias P, Schactae AL, Grigollo LR, Steckert AV, Martins DF, Junior RJN, Vainzof M, Quevedo. Effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model. J.Neurol Sci. 2022 Feb 19. doi: 10.1007/s10072-022-05928-w. Online ahead of print.

7. Costa CIS, da Silva Montenegro EM, Zarrei M, de Sá Moreira E, Silva IMW, de Oliveira Scliar MO, Wang JYT, Zachi EC, Branco EV, da Costa SS, Lourenço NCV, Vianna-Morgante AM, Rosenberg C, Krepischi ACV, Scherer SW, Passos-Bueno MR. Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes. Clin Genet. 2022 Jan;101(1):134-141. doi: 10.1111/cge.14072.

8. Cotta A, Souza LS, Carvalho E, Feitosa LN, Cunha AJr, Navarro MM, Valicek J, Menezes MM, Neves SVN, Xavier-Neto R, Vargas AP, Takata RI, Paim JF, Vainzof M. Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms. Genes 2022, 13, 760. https://doi.org/10.3390/genes13050760

9. de Castro MV, Santos KS, Apostolico JS, ..., Naslavsky MS, Passos-Bueno MR, Boscardin SB, Rosa DS, Kalil J, Zatz M, Cunha-Neto E. Recurrence of COVID-19 associated with reduced T-cell responses in a monozygotic twin pair. Open Biol. 2022 Feb;12(2):210240. doi: 10.1098/rsob.210240. Epub 2022 Feb 2

10. Fidalgo F, Torrezan GT, Sá BCS, Barros BDF, Moredo LF, Valieris R, de Souza SJ, Duprat JP, Krepischi ACV, Carraro DM. Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families. PLoS One. 2022 Jan 27;17(1):e0262419. doi: 10.1371/journal.pone.0262419.

11. Freitas JLGS, Silva JMM, Nóbrega JCL, Simões RFM, Medeiros JB, Alves RO, Santos JLF, Duarte YAO, Zatz M, Matheson D, de Menezes TN, Santos S. Health-Related Quality of Life and Associated Factors: Regional Differences Among Oldest-Old in Brazil. Inquiry. Jan-Dec 2022; 59:469580221086922. doi: 10.1177/00469580221086922.

12. Galisa ALG, Jacob PL, de Farias AA, Lemes RB, Alves LU, Nóbrega JCL, Zatz M, Santos S, Mathias Weller. Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil. Genet Mol Biol. 2022 Feb 2;45(1):e20210172. doi: 10.1590/1678-4685-GMB-2021-0172. eCollection 2022.

13. Ghirotto B, Oliveira DF, Cipelli M, Basso PJ, de Lima J, Breda CNS, Ribeiro HC, Silva CCC, Hiyane MI, Caldini EG, Sussulini A, Kowaltowski AJ, Oliveira EML, Zatz M, Camara NOS. MS-driven metabolic alterations are recapitulated in iPSC-derived astrocytes. Ann Neurol. 2022 May;91(5):652-669. doi: 10.1002/ana.26336. Epub 2022 Mar 17.

14. Godoy JAP, Bonamino M, Melo RAP, Kondo AT, Okamoto OK, Kerbauy LN. CAR-T cell production. Journal of Bone Marrow Transplantation and Cellular Therapy, v. 3, p. 155, 2022

15. Godoy JAP, Kerbauy LN, Paiva RMA, Kondo AT, Okamoto OK, Bonamino M . Preclinical studies using CAR-T cells. Journal of Bone Marrow Transplantation and Cellular Therapy, v. 3, p. 154, 2022.

16. Godoy JAP, Kerbauy LN, Paiva RMA, Kondo AT, Okamoto OK, Kutner JM. Advanced Cell Therapy product release containing CAR-T cells. Journal of Bone Marrow Transplantation and Cellular Therapy, v. 3, p. 156, 2022

17. Honjo RS, Monteleone VF, Aiello VD, Wagenfuhr J, Issa VS, Pomerantzeff PMA, Furusawa EA, Zanardo EA, Kulikowski LD, Bertola DR, Kim CA. Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases. Am J Med Genet A. 2022 Feb;188(2):676-682. doi: 10.1002/ajmg.a.62542.

18. Kajitani GS, Quayle C, Garcia CCM, Fotoran WL, Dos Santos JFR, van der Horst GTJ, Hoeijmakers JHJ, Menck CFM. Photorepair of Either CPD or 4PP DNA Lesions in Basal Keratinocytes Attenuates Ultraviolet-Induced Skin Effects in Nucleotide Excision Repair Deficient Mice. Front Immunol. 2022 Mar 29;13:800606. doi: 10.3389/fimmu.2022.800606

19. Kowaltowski A, Naslavsky MS, Zatz M. Open access: Brazilian scientists denied waivers and discounts. Nature. 2022 Mar;603(7903):793. doi: 10.1038/d41586-022-00864-3.

20. Lezirovitz K, Mingroni-Netto RC. Genetic etiology of non-syndromic hearing loss in Latin America. Hum Genet. 2022 Apr;141(3-4):539-581. doi: 10.1007/s00439-021-02354-4. Epub 2021 Oct 15.

21. Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 Mar 28. doi: 10.1002/humu.24375.

22. Linnenkamp B, Girardi R, Rocha L, Yamamoto GL, Ceroni JR, Mendes AEC, Honjo R, Oliveira LA, Amemiya RB, Quaio C, de Oliveira Filho JB, Kim CA, Bertola DR. Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis. Clin Genet. 2022 Apr;101(4):476-478. doi: 10.1111/cge.14118.

23. Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, et al… … (de Castro MV , Zatz M.) The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies. Proc Natl Acad Sci U S A. 2022 May 24;119(21):e2200413119. doi: 10.1073/pnas.2200413119. Epub 2022 May 16.

24. Martins DJ, Tirman S, Quinet A, Menck CFM. Detection of Post-Replicative Gaps Accumulation and Repair in Human Cells using the DNA Fiber Assay. J Vis Exp. 2022 Feb 3;(180). doi: 10.3791/63448.

25. Moreira DP, Suzuki AM, Silva ALTE, Varella-Branco E, Meneghetti MCZ, Kobayashi GS, Fogo M, Ferrari MFR, Cardoso RR, Lourenço NCV, Griesi-Oliveira K, Zachi EC, Bertola DR, Weinmann KS, de Lima MA, Nader HB, Sertié AL, Passos-Bueno MR. Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport. Front Cell Neurosci. 2022 Jan 13;15:803302. doi: 10.3389/fncel.2021.803302.

26. 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, Dos Santos Brito Silva N, 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 WCS, Mingroni-Netto RC, Borda V, Guio H, Rojas CP, Sanchez C, Caceres O, Dean M, Barreto ML, Lima-Costa MF, Horta BL, Tarazona-Santos E, Meyer D, Galante PAF, Guryev V, Castelli ECDuarte YAO, Passos-Bueno MR, Zatz M. Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil. Nat Commun. 2022 Mar 4;13(1):1004. doi: 10.1038/s41467-022-28648-3

27. Nóbrega JCL, Medeiros JB, Freitas JLGS, Silva JMM, Simões RFM, Olinda R, Santos JLF, Menezes TN, Duarte YAO, Zatz M, Matheson D, Santos S. Psychosocial aspects and support networks associated with disability in two longevous populations in Brazil: a cross-sectional study. BMC Geriatrics, 1/2, BMC Geriatr. 2022 Feb 9;22(1):110. doi: 10.1186/s12877-022-02810-4.

28. Palacios-Muñoz A, de Paula Moreira D, Silva V, García IE, Aboitiz F, Zarrei M, Campos G, Rennie O, Howe JL, Anagnostou E, Ambrozewic P, Scherer SW, Passos-Bueno MR, Ewer J. Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila. Mol Psychiatry. 2022 May 2. doi: 10.1038/s41380-022-01555-1. Online ahead of print

20. Palmeira O, Larissa RB Matos LRB, Naslavsky MS, Heloisa MS Bueno HMS, Soler JP, Setubal JC, Zatz M . Longitudinal 16S rRNA gut microbiota data of infant triplets show partial susceptibility to host genetics. iScience. 2022 Feb 2;25(3):103861. doi: 10.1016/j.isci.2022.103861.

30. Passos-Bueno MR, Costa, CIS, Zatz M. Dystrophin genetic variants and autism. Discover Mental Health, volume 2, Article number: 4 (2022)

31. Quintero-Ruiz N, Corradi C, Moreno NC, de Souza TA, Pereira Castro L, Rocha CRR, Menck CFM. Mutagenicity Profile Induced by UVB Light in Human Xeroderma Pigmentosum Group C Cells†. Photochem Photobiol. 2022 98(3):713-731.

32. Rezende RC, Noronha RM, Keselman A, Quedas EPS, Dantas NCB, Andrade NLM, Bertola DR, Malaquias AC, Jorge AAL. Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys. Horm Res Paediatr. 2022;95(1):51-61. doi: 10.1159/000522670.

33. Silva MVR, de Castro MV, Passos-Bueno MR, Otto PA, Naslavsky MS, Zatz M. Men are the main COVID-19 transmitters: behavior or biology? Discov Ment Health. 2022;2(1):1. doi: 10.1007/s44192-022-00004-3. Epub 2022 Jan 24

34. Silva MVR, Mateus V de Castro, Maria Rita Passos-Bueno, Paulo A Otto, Michel S Naslavsky, Mayana Zatz. Men are the main COVID-19 transmitters: behavior or biology? Discov Ment Health. 2022;2(1):1. doi: 10.1007/s44192-022-00004-3. Epub 2022 Jan 24

35. Souza BTBA, Nóbrega JCL, Simões RRF, Barbosa J, Olinda RA, Duarte YAO, Zatz M, Santos S. A Comparative Study of Prevalence and Risk Factors Associated with Depressive Symptoms in Two Long-Lived Elderly Populations in Brazil. Global Journal of Health Science.1-16, 14/1/2022

36. Telles-Silva KA, Pacheco L, Komatsu S, Chianca F, Caires-Júnior LC, Araujo BHS, Goulart E, Zatz M. Applied Hepatic Bioengineering: Modeling the Human Liver Using Organoid and Liver-on-a-Chip Technologies. Front Bioeng Biotechnol. 2022 Feb 14;10:845360. doi: 10.3389/fbioe.2022.845360

37. Vasconcelos, FTGR, Carvalho, LML, Souza LS, Barbosa IN, Dávila CK, Zatz M, Vainzof M. Modelos animais no estudo de doenças genéticas humanas. Genetica na Escola 17 (1), pag 26, 2022.

38. Vegas N, Demir Z, Gordon CT, Breton S, Romanelli Tavares VL, Moisset H, Zechi-Ceide R, Kokitsu-Nakata NM, Kido Y, Marlin S, Gherbi Halem S, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Le Tanno P, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, De Pontual L, Amiel J. Futher delineation of auriculocondylar syndrome based on 14 novel cases and reassessement of 25 published cases. Hum Mutat. 2022 May;43(5):582-594. doi: 10.1002/humu.24349. Epub 2022 Mar 7.

39. Zatz M, Silva MVR, Castro MV, Naslavsky MS. The 90 plus: longevity and COVID-19 survival. Mol Psychiatry. 2022 Apr;27(4):1936-1944. doi: 10.1038/s41380-022-01461-6. Epub 2022 Feb 8

 

 

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