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Publicações 2015

Publicações 2015

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  1. Andrade-Lima LC, Andrade LN, Menck CFM. ATR suppresses apoptosis after UVB light by controlling both translesion synthesis and alternative tolerance pathways . J Cell Sci. 128: 150-159. J Cell Sci. 2015 Jan 1;128(1):150-9. doi: 10.1242/jcs.161596.

  2. Andrade-Lima LC, Veloso A, Paulsen MT, Menck CFM, Ljungman M. DNA repair andrecovery of RNA synthesis following exposure to ultraviolet light are delayed in long genes . 2015. Nucleic Acids Res 43(5): 2744-2756.

  3. Brito LA; Yamamoto GL; Melo S; Malcher C; Ferreira SG; Figueiredo J; Alvizi L, Kobayashi GS; Naslavsky MS, Alonso N, Felix TM, Zatz M, Seruca R, Passos-Bueno MR. Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate. Hum Mutat. 2015 Nov;36(11):1029-33. doi: 10.1002/humu.22827. Epub 2015 Aug 3.

  4. Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky MS,Zatz M, Passos-Bueno MR, Kim C, Bertola DR. Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. Am J Med Genet A. 2015 May;167(5):1039-4

  5. Coatti GC, Beccari MS, Olávio TR, Mitne-Neto M, Okamoto OK, Zatz M. Stem cells for amyotrophic lateral sclerosis modeling and therapy: myth or fact? Cytometry A. 2015 Mar;87(3):197-211. doi: 10.1002/cyto.a.22630. Epub 2015 Feb 2. PubMed PMID: 25645594.

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

  7. D'Angelo CS, Dos Santos MFM, Luis G Alonso, LG, Koiffmann CP. Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity. Molecular Syndromology . Mol Syndromol. 2015 Jul; 6(2): 63–70. Published online 2015 Jan 28. doi: 10.1159/000371600

  8. Dantas VGL, Freitas EL, Della-Rosa VA, Lezirovitz KM, Ana Maria SM, Ramos SB, Oiticica JA, Leandro U, Pearson PL, Rosenberg C, Mingroni-Netto RC. Novel partial duplication of causes branchiootic syndrome in a large Brazilian family . Int J Audiol. 2015;54(9):593-8. doi: 10.3109/14992027.2015.1030511. Epub 2015 Apr 30

  9. de Araújo ÉS, Pramio DT, Kashiwabara AY, Pennacchi PC, Maria-Engler SS, Achatz MI, Campos AH, Duprat JP, Rosenberg C, Carraro DM, Krepischi AC. DNA Methylation Levels of Melanoma Risk Genes Are Associated with Clinical Characteristics of Melanoma Patients . Biomed Res Int. 2015; 2015: 376423. Published online 2015 Apr 12. doi: 10.1155/2015/376423

  10. de Araújo ÉS, Kashiwabara AY, Achatz MI, Moredo LF, De Sá BC, Duprat JP; Rosenberg C, Carraro DM; Krepischi AC. LINE-1 hypermethylation in peripheral blood of cutaneous melanoma patients is associated with metastasis . Melanoma Research. , v.25, p.173 - 177, 2015.

  11. de Gusmao CM, Kok F, Casella EB; Waugh JL. Benign hereditary chorea related to NKX2-1 with ataxia and dystonia . Neurol Genet. 2016 February; 2(1): e40. Publishedonline 2015 December 22. doi: 10.1212/NXG.0000000000000040PMCID: PMC4817908

  12. de Oliveira DM, de Oliveira EM, Ferrari MF, Semedo P, Hiyane MI, Cenedeze MA; Pacheco-Silva A, Câmara NO, Peron JP. Simvastatin ameliorates experimental autoimmune encephalomyelitis by inhibiting Th1/Th17 response and cellular infiltration.Inflammopharmacology . 2015 Dec;23(6):343-54. doi: 10.1007/s10787-015-0252-1. Epub 2015 Nov 11.

  13. Dikoglu E, Alfaiz A, Gorna M, Bertola DR, Chae JH, Cho TJ, Derbent M, Alanay Y; Guran T, Kim OH, Llerenar JC Jr, Yamamoto G, Superti-Furga G, Reymond A, Xenarios I, Stevenson B, Campos-Xavier B, Bonafé L, Superti-Furga A, Unger S. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome .Am J Med Genet A. 2015 Jul;167(7):1501-9. doi: 10.1002/ajmg.a.37029.

  14. Fanganiello RD, Ishiy FA, Kobayashi GS, Alvizi L, Sunaga DY, Passos-Bueno MR. Increased In Vitro Osteopotential in SHED Associated with Higher IGF2 Expression When Compared with hASCs . Stem Cell Rev Rep. 2015 Aug;11(4):635-44. doi: 10.1007/s12015-015-9592-x

  15. Faria ÁC, Rabbi-Bortolini E, Rebouças MR, de S Thiago Pereira AL, Frasson MG, Atique R, Lourenço NC, Rosenberg C, Kobayashi GS, Passos-Bueno MR, Errera FI. Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology? Am J Med Genet A. 2016 Feb;170A(2):403-9. doi: 10.1002/ajmg.a.37448. Epub 2015 Nov 14.

  16. Fidalgo F, Rodrigues TC, Pinilla M, Silva AG, Maciel MdoS,Rosenberg C, de Andrade VP, Carraro DM, Krepischi AC. Lymphovascular invasion and histologic grade are associated with specific genomic profiles in invasive carcinomas of the breast: Tumour. Tumour Biol. 2015 Mar; 36(3): 1835–1848. Published online 2014 Nov 13. doi: 10.1007/s13277-014-2786-z

  17. Figueiredo T, Souto U, Pessoa A, Ribeiro P, Brandão A, Zatz M, Kok F, Santos S. Prospecting genetic disorders in a highly inbred region of Brazil: two novel genes for AR intellectual deficiency Sci Rep. 2018; 8: 16552. Published online 2018 Nov 8. doi: 10.1038/s41598-018-35022-1

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

  19. Fonseca SAS, Costas RM, Morato-Marques M, Costa S, Alegretti JR, Rosenberg C, da Motta ELA, Serafini PC, Pereira LV. A Euploid Line of Human Embryonic Stem Cells Derived from a 43,XX,dup(9q),+12,-14,-15,-18,-21 Embryo . PLoS One. 2015 Nov 5;10(11):e0140999. doi: 10.1371/journal.pone.0140999. eCollection 2015.

  20. Fonseca ACS, Bonaldi A, Fonseca SAS, Otto PA, Kok F, Mads Bak, Tommerup N, Vianna-Morgante AM. The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation . Mol Cytogenet. 2015; 8: 106. Published online 2015 December 30. doi: 10.1186/s13039-015-0205-9 PMCID: PMC4696321

  21. Fontes MI, Santos AP, Molck MC, Simioni M, Nascimento DL, Andrade AK; Rosenberg C, Krepischi AC, Appenzeller S, Monlleó IL, Gil-da-Silva-Lopes VL. Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature . Am J Med Genet A. 2016 Mar;170(3):766-72. doi: 10.1002/ajmg.a.37494. Epub 2015 Dec 7.PMID: 26638882

  22. Gamba BF, Rosenberg C, Costa S, Richieri-Costa A, Ribeiro-Bicudo LA. Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14 . Mol Syndromol. 2015 Feb;6(1):39-43. doi: 10.1159/000371404. Epub 2015 Jan 22

  23. Gamba BF, Richieri-Costa A, Costa S, Rosenberg C, Ribeiro-Bicudo LA. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies . Molecular Genetics and Genomics (Print). ,v.jun, p.1 - , 2015.

  24. Gomes LR, Vessoni AT, Menck CFM. Three-dimensional microenvironment confers enhanced sensitivity to doxorubicin by reducing p53-dependent induction of autophagy . Oncogene. 2015 Oct 16;34(42):5329-40. doi: 10.1038/onc.2014.461. Epub 2015 Jan 26.

  25. Ishiy FA, Fanganiello RD, Griesi-Oliveira K, Suzuki AM, Kobayashi GS, Morales AG, Capelo LP, Passos-Bueno MR. Improvement of In Vitro Osteogenic Potential through Differentiation of Induced Pluripotent Stem Cells from Human Exfoliated Dental Tissue towards Mesenchymal-Like Stem Cells . Stem Cells Int. 2015;2015:249098. doi: 10.1155/2015/249098. Epub 2015 Jan 31.

  26. Jazedje T, Ribeiro A, Pelatti M, Siqueira Bueno H, Nagata G, Trierveiler Martins M, Rodrigues E , Zatz M. Human mesenchymal stromal cells transplantation may enhance or inhibit 4T1 murine breast adenocarcinoma through different approaches . Stem Cells Int. 2015;2015:796215. doi: 10.1155/2015/796215. Epub 2015 Apr 27

  27. Kaid C, Silva PB, Cortez BA, Rodini CO, Semedo-Kuriki P, Okamoto OK. miR-367promotes proliferation and stem-like traits in medulloblastoma cells . Cancer Sci. 2015 Sep;106(9):1188-95. doi: 10.1111/cas.12733. Epub 2015 Aug 6. PubMed PMID:26250335; PubMed Central PMCID: PMC4582988

  28. Lehalle D, Wieczorek D, Zechi-Ceide RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon, CT. A review of craniofacial disorders caused by spliceosomal defects . Clin Genet. 2015 Nov;88(5):405-15. doi: 10.1111/cge.12596. Epub 2015 May 1.

  29. Lemes RB, Nunes K, Meyer D, Mingroni-Netto RC, Otto PA. Estimation of Inbreeding and Substructure Levels in African-Derived Brazilian Quilombo Populations (open acess pre-prints) . Human Biology. , v.85, p.2 - , 2015.

  30. Lindegren S, Andrade LN, Bäck T, Machado CM, Horta BB, Buchpiguel C, Moro AM, Okamoto OK, Jacobsson L, Cederkrantz E, Washiyama K, Aneheim E, Palm S, Jensen H, Tuma MC, Chammas R, Hultborn R, Albertsson P. Binding Affinity, Specificity and Comparative Biodistribution of the Parental Murine Monoclonal Antibody MX35 (Anti-NaPi2b) and Its Humanized Version Rebmab200 . PLoS One. 2015 May 13;10(5):e0126298. doi: 10.1371/journal.pone.0126298. eCollection 2015. PubMed PMID: 25970341; PubMed Central PMCID: PMC4430291.

  31. Linhares ND, Svartman M, Rodrigues TC, Rosenberg C, Valadares ER. Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype-phenotype correlations: Eur J Med Genet. 2015 May;58(5):310-8. doi: 10.1016/j.ejmg.2015.02.011. Epub 2015 Mar 24.

  32. Machado CO, Griesi-Oliveira K, Rosenberg C, Martins S, Passos-Bueno MR, Sertie AL. Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism . European Journal of Human Genetics. 2016 Jan;24(1):59-65. doi: 10.1038/ejhg.2015.69. Epub 2015 Apr 22

  33. Mariano FV, Saccomani LF, 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. 2016 Feb 24. pii: S1808-8694(16)00030-6. doi: 10.1016/j.bjorl.2015.11.015. [Epub ahead of print] No abstract available.PMID: 26971044 Free Article

  34. Martins-Bach AB, Malheiros J, Matot B, Martins PC, Almeida CF, Caldeira W, Ribeiro AF, Loureiro de SP, Azzabou N, Tannús A, Carlier PG, Vainzof M. Quantitative T2 combined with texture analysis of nuclear magnetic resonance images identify different degrees of muscle involvement in three mouse models of muscle dystrophy: mdx, Largemyd and mdx/Largemyd. PLoS One. 2015 Feb 24;10(2):e0117835. doi: 10.1371/journal.pone.0117835. eCollection 2015

  35. Melo US; Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S . Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome . Hum Mol Genet. 15;24(24):6877-85, Dec. 2015.

  36. Okamoto OK , Matheu A, Magnani L. Stem Cells in Translational Cancer Research . Stem Cells International, v. 2015, p. 1-2, 2015.

  37. Peron JP, de Brito AA, Pelatti M, Brandão WN, Vitoretti LB, Greiffo FR, da Silveira EC, Oliveira-Junior MC, Maluf M, Evangelista L, Halpern S, Nisenbaum MG, Perin P, Czeresnia CE, Câmara NO, Aimbire F, Vieira RP, Zatz M, Ligeiro de Oliveira AP. Human Tubal-Derived Mesenchymal Stromal Cells Associated with Low Level Laser Therapy Significantly Reduces Cigarette Smoke-Induced COPD in C57BL/6 mice. PLoS One. 2015 Aug 31;10(8):e0136942. doi: 10.1371/journal.pone.0136942. eCollection 2015.

  38. Piccinato CA, Sertie AL, Torres N, Ferretti M, Antonioli E. High OCT4 and Low p16(INK4A) Expressions Determine In Vitro Lifespan of Mesenchymal Stem Cells . Stem Cells Int, 2015.

  39. Ribeiro AL, Okamoto OK. Combined effects of pericytes in the tumor microenvironment . Stem Cells Int. 2015;2015:868475. doi: 10.1155/2015/868475.Epub 2015 Apr 27. Review. PubMed PMID: 26000022; PubMed Central PMCID:PMC4427118.

  40. Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect . Eur J Hum Genet. 2015 Apr;23(4):481-5. doi: 10.1038/ejhg.2014.132.

  41. Santos MC, Silva PB, Rodini CO, Furukawa G, Marco Antonio DS, Zanotto-Filho A;Moreira JC, Okamoto OK. Embryonic Stem Cell-Related Protein L1TD1 Is Required forCell Viability, Neurosphere Formation, and Chemoresistance in edulloblastoma .Stem Cells Dev. 2015 Nov 15;24(22):2700-8. doi: 10.1089/scd.2015.0052. Epub 2015 Aug 10. PubMed PMID: 26159230.

  42. Silva PB, Rodini CO, Kaid C, Nakahata AM, Pereira MC, Matushita H, Costa SS, Okamoto OK. Establishment of a novel human medulloblastoma cell line characterized by highly aggressive stem-like cells . Cytotechnology. 2015 Sep 10.[Epub ahead of print] PubMed PMID: 26358937.

  43. Suzuki AM, Griesi-Oliveira K, de Oliveira Freitas Machado C, Vadasz E, Zachi EC, Passos-Bueno MR, Sertie AL Altered mTORC1 signaling in multipotent stem cells from nearly 25% of patients with nonsyndromic autism spectrum disorders . Mol Psychiatry. 2015 May;20(5):551-2. doi: 10.1038/mp.2014.175. Epub 2015 Jan 13.

  44. Toledo RA, Hatanaka R, Lourenço DM, Lindsey SC, Camacho CP, Almeida M, Lima-Jr JV, Sekiya T, Garralda E, Naslavsky MS, Yamamoto G, Lazar M, Meirelles O, Sobreira TJ, Lebrao ML, Duarte YA, Blangero J, Zatz M, Cerutti JM, Maciel RM, Toledo SP. Comprehensive assessment of the disputed RET Y791F shows no association with MTC susceptibility. Endocr Relat Cancer. 2015 Feb 22 (1) 65-76

  45. Torres LB, Araujo BHS, Marruaz KS, de Souza JS, Sousa BS, Silva SG d., Cabral FR, Cavalheiro EA. Parvalbumin expression and distribution in the hippocampal formation of Cebus apell a. Am J Primatol. 2015 Apr;77(4):449-61. doi: 10.1002/ajp.22366. Epub 2014 Dec 3.

  46. Uehara DT; Freitas ÉL; Alves LU; Mazzeu JF; Auricchio MTBM; Tabith A; Monteiro, MLR; Rosenberg C; Mingroni-Netto R C. A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family . Human Genome Variation. , v.2, p.15038 - , 2015.

  47. Vainzof M , Feitosa L, Canovas M, Pavanello RCM, Zatz M. Mild course in atypical Duchenne muscular dystrophy patients is not caused by utrophin overexpression . Neuromuscul. Disord. In revision fev/2015

  48. Vieira NM, Guo LT, Estrela E, Kunkel LM ,Zatz M, Shelton GD. Muscular Dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype . Neuromuscul Disord. 2015 May;25(5):363-70

  49. Vieira NM, Elvers I, Alexander MS, Moreira YB, Eran A, Gomes JP, Marshall JL, Karlsson EK, Verjovski-Almeida S, Lindblad-Toh K, Kunkel LM, Zatz M. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell. 19;163(5):1204-13. Nov. 2015.

  50. Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet. 2015 Jun:52 (6) 413-21.

  51. Zatz M. Response to: Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin . Neuromuscular Disorders, v. 25, Issue 5, p. 444, 2015 DOI: https://doi.org/10.1016/j.nmd.2015.02.010

  52. Zatz M , Vieira NM, Zucconi E, Pelatti M, Gomes J, Vainzof M, Bach A, Garcia Otaduy MC, Bento dos Santos G, Amaro Jr. E, Landini V, Gomes T. A normal life without muscle dystrophin . Neurom. Disorders 2015. Neuromuscul Disord. 2015 May;25(5):371-4


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