Quem Somos

Publicações 2008

1. Adoni T, Lino AM, Marchiori PE, Kok F, Callegaro D. Seroprevalence of NMO-IgG antibody in Brazilian patients with neuromyelitis optica . Arq Neuropsiquiatr. 2008 Jun;66(2B):295-7. doi: 10.1590/s0004-282x2008000300001.

2. Ambrósio CE, Valadares MC, Zucconi E, Cabral R,Pearson PL, Gaiad TP, Canovas M, Vainzof M, Miglino MA, Zatz M. Ringo, a Golden Retriever Muscular Dystrophy (GRMD) dog with absent dystrophin but normal strength . Neuromuscul Disord. 2008 Nov;18(11):892-3. doi: 10.1016/j.nmd.2008.06.385. Epub 2008 Jul 29.

3. Arnold DR, Fortier AL, Lefebvre R, Miglino MA, Pfarrer C, Smith LC. Placental insufficiencies in cloned animals – a workshop report. Placenta. 2008 Mar;29 Suppl A:S108-10. Epub 2008 Feb 20.

4. Bahia VS, Kok F, Marie SN, Shinjo SO, Caramelli P, Nitrini R. Polymorphisms of APOE and LRP genes in Brazilian individuals with Alzheimer disease . Alzheimer Dis Assoc Disord. Jan-Mar 2008;22(1):61-5. doi: 10.1097/WAD.0b013e31815a9da7.

5. Batista LF, Kaina B, Meneghini R, Menck CF. How DNA lesions are turned into powerful killing structures: insights from UV-induced apoptosis . Mutat Res. Mar-Jun 2009;681(2-3):197-208. doi: 10.1016/j.mrrev.2008.09.001. Epub 2008 Sep 19.

6. Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair . Genome Res. 2008 Jun;18(6):847-58. doi: 10.1101/gr.075903.107. Epub 2008 Apr 2.

7. Bueno DF, Kerkis I, Costa AM, Martins MT, Kobayashi GS, Zucconi E, Fanganiello RD, Salles FT, Almeida AB, do Amaral CE, Alonso N, Passos-Bueno MR. New source of muscle-derived stem cells with potential for alveolar bone reconstruction in cleft lip and/or palate patients . Tissue Eng Part A. 2009 Feb;15(2):427-35. doi: 10.1089/ten.tea.2007.0417.

8. Carvalho H, Ortolan TG, dePaula T, Leite RA, Weinlich R, Amarante-Mendes GP, Menck CF. Sustained activation of p53 in confluent nucleotide excision repair-deficient cells resistant to ultraviolet-induced apoptosis . DNA Repair (Amst). 2008 Jun 1;7(6):922-31. doi: 10.1016/j.dnarep.2008.03.003. Epub 2008 Apr 25.

9. Carvalho VM, Kok F. Determination of serum methylmalonic acid by alkylative extraction and liquid chromatography coupled to tandem mass spectrometry . Anal Biochem. 2008 Oct 1;381(1):67-73. doi: 10.1016/j.ab.2008.06.023. Epub 2008 Jun 20.

10. Cheroki C, Krepischi-Santos AC, Szuhai K, Brenner V, Kim CA, Otto PA, Rosenberg C. Genomic imbalances associated with mullerian aplasia . J Med Genet. 2008 Apr;45(4):228-32. doi: 10.1136/jmg.2007.051839. Epub 2007 Nov 26.

11. Chiganças V, Lima-Bessa KM, Stary A, Menck CF, Sarasin A. Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome . Cancer Res. 2008 Aug 1;68(15):6074-83. doi: 10.1158/0008-5472.CAN-07-6695.

12. da Costa RM, Quayle C, de Fátima Jacysyn J, Amarante-Mendes GP, Sarasin A, Menck CF. Resistance to ultraviolet-induced apoptosis in DNA repair deficient growth arrested human fibroblasts is not related to recovery from RNA transcription blockage . Mutat Res. 2008 Apr 2;640(1-2):1-7. doi: 10.1016/j.mrfmmm.2007.11.010. Epub 2007 Dec 17.

13. da Rocha RP, Paquola AC, Marques Mdo V, Menck CF, Galhardo RS. Characterization of the SOS regulon of Caulobacter crescentus . J Bacteriol. 2008 Feb; 190(4): 1209–1218.Published online 2007 Dec 14. doi: 10.1128/JB.01419-07.

14. de Alencastro G, McCloskey DE, Kliemann SE, Maranduba CM, Pegg AE, Wang X, Bertola DR, Schwartz CE, Passos-Bueno MR, Sertié AL. New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome . J Med Genet. 2008 Aug;45(8):539-43. doi: 10.1136/jmg.2007.056713. Epub 2008 Jun 11.

15. de Lima-Bessa KM, Armelini MG, Chiganças V, Jacysyn JF, Amarante-Mendes GP, Sarasin A, Menck CF. CPDs and 6-4PPs play different roles in UV-induced cell death in normal and NER-deficient human cells . DNA Repair (Amst). 2008 Feb 1;7(2):303-12. doi: 10.1016/j.dnarep.2007.11.003. Epub 2007 Dec 21.

16. de Mendonça Costa A, Bueno DF, Martins MT, Kerkis I, Kerkis A, Fanganiello RD, Cerruti H, Alonso N, Passos-Bueno MR. Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells . J Craniofac Surg. 2008 Jan;19(1):204-10. doi: 10.1097/scs.0b013e31815c8a54.

17. Eduardo Fde P, Bueno DF, de Freitas PM, Marques MM,Passos-Bueno MR, Eduardo Cde P, Zatz M. Stem cell proliferation under low intensity laser irradiation: a preliminary study . Lasers Surg Med. 2008 Aug;40(6):433-8. doi: 10.1002/lsm.20646.

18. Errera FI, Canani LH, Yeh E, Kague E, Armelin-Corrêa LM, Suzuki OT, Tschiedel B, Silva ME, Sertié AL, Passos-Bueno MR. COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C > T in its “frizzled” motif is associated with obesity in diabetes type 2 patients . An Acad Bras Cienc. 2008 Mar;80(1):167-77. doi: 10.1590/s0001-37652008000100012.

19. Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D’Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation . J Med Genet. 2008 Jul;45(7):447-50. doi: 10.1136/jmg.2007.057042. Epub 2008 May 2.

20. José da Rocha A, Túlio Braga F, Carlos Martins Maia A Jr, Jorge da Silva C, Toyama C, Pereira Pinto Gama H, Kok F, Rodrigues Gomes H. Lactate detection by MRS in mitochondrial encephalopathy: optimization of technical parameters . J Neuroimaging. 2008 Jan;18(1):1-8. doi: 10.1111/j.1552-6569.2007.00205.x.

21. Kerkis I, Ambrosio CE, Kerkis A, Martins DS, Zucconi E, Fonseca SA, Cabral RM, Maranduba CM, Gaiad TP, Morini AC, Vieira NM, Brolio MP, Sant’Anna OA, Miglino MA, Zatz M. Early transplantation of human immature dental pulp stem cells from baby teeth to golden retriever muscular dystrophy (GRMD) dogs: Local or systemic? J Transl Med. 2008 Jul 3;6:35. doi: 10.1186/1479-5876-6-35.

22. Kolski HK, Hawkins C, Zatz M, de Paula F, Biggar D, Alman B, Vajsar J. Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques . Neuropathology. 2008 Jun;28(3):264-8. doi: 10.1111/j.1440-1789.2007.00871.x. Epub 2007 Nov 20.

23. Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome . J Med Genet. 2008 Nov;45(11):710-20. doi: 10.1136/jmg.2008.058701. Epub 2008 Jul 15.

24. Leite RA, Marchetto MC, Muotri AR, Vasconcelos Dde M, de Oliveira ZN, Machado MC, Menck CF. Identification of XP complementation groups by recombinant adenovirus carrying DNA repair genes . J Invest Dermatol. 2009 Feb;129(2):502-6. doi: 10.1038/jid.2008.239. Epub 2008 Aug 14.

25. ALezirovitz K, Maestrelli SR, Cotrim NH, Otto PA, Pearson PL, Mingroni-Netto RC. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3 . Hum Genet. 2008 Jul;123(6):625-31. doi: 10.1007/s00439-008-0515-7. Epub 2008 May 21.

26. Lezirovitz K, Pardono E, de Mello Auricchio MT, de Carvalho E Silva FL, Lopes JJ, Abreu-Silva RS, Romanos J, Batissoco AC, Mingroni-Netto RC. Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness . Eur J Hum Genet. 2008 Jan;16(1):89-96. doi: 10.1038/sj.ejhg.5201917. Epub 2007 Sep 12.

27. Lima WC, Menck CF. Replacement of the arginine biosynthesis operon in Xanthomonadales by lateral gene transfer . J Mol Evol. 2008 Mar;66(3):266-75. doi: 10.1007/s00239-008-9082-8. Epub 2008 Feb 28.

28. Lima WC, Paquola AC, Varani AM, Van Sluys MA, Menck CF . Laterally transferred genomic islands in Xanthomonadales related to pathogenicity and primary metabolism . FEMS Microbiol Lett. 2008 Apr;281(1):87-97. doi: 10.1111/j.1574-6968.2008.01083.x.

29. Lima WC, Varani AM, Menck CF. NAD biosynthesis evolution in bacteria: lateral gene transfer of kynurenine pathway in Xanthomonadales and Flavobacteriales . Mol Biol Evol. 2009 Feb;26(2):399-406. doi: 10.1093/molbev/msn261. Epub 2008 Nov 12.

30. Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Nascimento RM, Bueno C, Martyn M, Leão EK, Zatz M. Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25 . Neurogenetics. 2008 Jul;9(3):225-6. doi: 10.1007/s10048-008-0130-8. Epub 2008 May 8.

31. Masotti C, Oliveira KG, Poerner F, Splendore A, Souza J, Freitas Rda S, Zechi-Ceide R, Guion-Almeida ML, Passos-Bueno MR. Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. Eur J Hum Genet. 2008 Feb;16(2):145-52. doi: 10.1038/sj.ejhg.5201955. Epub 2007 Nov 14.

32. Nogueira C, Aiello C, Cerone R, Martins E, Caruso U, Moroni I, Rizzo C, Diogo L, Leão E, Kok F, Deodato F, Schiaffino MC, Boenzi S, Danhaive O, Barbot C, Sequeira S, Locatelli M, Santorelli FM, Uziel G, Vilarinho L, Dionisi-Vici C. Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type . Mol Genet Metab. 2008 Apr;93(4):475-80. doi: 10.1016/j.ymgme.2007.11.005. Epub 2007 Dec 27.

33. Oliveira JR, Lima Filho JL, Zatz M. Identical twins with Idiopathic Basal Ganglia Calcification (“Fahr’s Disease”) presenting with a remarkably similar pattern of neuroimaging findings .Parkinsonism Relat Disord. 2009 Jun;15(5):396-7. doi: 10.1016/j.parkreldis.2008.06.006. Epub 2008 Aug 15.

34. Oliveira JR, Nishimura AL, Lemos RR, Zatz M. The genetics of Alzheimer’s disease in Brazil: 10 years of analysis in a unique population .J Mol Neurosci. 2009 Jan;37(1):74-9. doi: 10.1007/s12031-008-9124-0. Epub 2008 Jul 8.

35. Orabona GM, Griesi-Oliveira K, Vadasz E, Bulcão VL, Takahashi VN, Moreira ES, Furia-Silva M, Ros-Melo AM, Dourado F, Matioli SR, Otto P, Passos-Bueno MR. HTR1B and HTR2C in autism spectrum disorders in Brazilian families . Brain Res. 2009 Jan 23;1250:14-9. doi: 10.1016/j.brainres.2008.11.007. Epub 2008 Nov 12.

36. Passos-Bueno MR , Serti Eacute AE, Jehee FS, Fanganiello R, Yeh E. Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations . Front Oral Biol. 2008;12:107-143. doi: 10.1159/000115035.

37. Pinheiro AS, Amorim GC, Netto LE, Almeida FC, Valente AP. NMR solution structure of the reduced form of thioredoxin 1 from Sacharomyces cerevisiae . Proteins. 2008 Feb 1;70(2):584-7. doi: 10.1002/prot.21693.

38. Pupo AC, Pirana S, Spinelli M, Lezirovitz K, Mingroni Netto RC, Macedo LS. Study of a Brazilian family presenting non-syndromic hearing loss with mitochondrial inheritance . Braz J Otorhinolaryngol. 2008 Sep-Oct;74(5):786-9. doi.org/10.1590/S0034-72992008000500023

39. Santos SC, Pardono E, Ferreira da Costa MI, de Melo AN, Graciani Z, de Albuquerque e Souza AC, Lezirovitz K, Thiele-Aguiar RS, Mingroni-Netto RC, Opitz JM, Kok F, Otto PA. A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects . Am J Med Genet A. 2008 Dec 15;146A(24):3126-31. doi: 10.1002/ajmg.a.32580.

40. Secco M, Zucconi E, Vieira NM, Fogaça LL, Cerqueira A, Carvalho MD, Jazedje T, Okamoto OK, Muotri AR, Zatz M. Multipotent stem cells from umbilical cord: cord is richer than blood! Stem Cells. 2008 Jan;26(1):146-50. doi: 10.1634/stemcells.2007-0381. Epub 2007 Oct 11.

41. Secco M, Zucconi E, Vieira NM, Fogaça LL, Cerqueira A, Carvalho MD, Jazedje T, Okamoto OK, Muotri AR, Zatz M. Mesenchymal stem cells from umbilical cord: do not discard the cord! Neuromuscul Disord. 2008 Jan;18(1):17-8. doi: 10.1016/j.nmd.2007.11.003. Epub 2007 Dec 21.

42. Silva GM, Netto LE, Discola KF, Piassa-Filho GM, Pimenta DC, Bárcena JA, Demasi M. Role of glutaredoxin 2 and cytosolic thioredoxins in cysteinyl-based redox modification of the 20S proteasome . FEBS J. 2008 Jun;275(11):2942-55. doi: 10.1111/j.1742-4658.2008.06441.x. Epub 2008 Apr 23.

43. Vainzof M , Ayub-Guerrieri D, Onofre PC, Martins PC, Lopes VF, Zilberztajn D, Maia LS, Sell K, Yamamoto LU. Animal models for genetic neuromuscular diseases .J Mol Neurosci. 2008 Mar;34(3):241-8. doi: 10.1007/s12031-007-9023-9. Epub 2008 Jan 18.

44. Vieira NM, Brandalise V, Zucconi E, Jazedje T, Secco M, Nunes VA, Strauss BE, Vainzof M, Zatz M. Human multipotent adipose-derived stem cells restore dystrophin expression of Duchenne skeletal-muscle cells in vitro . Biol Cell. 2008 Apr;100(4):231-41. doi: 10.1042/BC20070102.

45. Vieira NM, Bueno CR Jr, Brandalise V, Moraes LV, Zucconi E, Secco M, Suzuki MF, Camargo MM, Bartolini P, Brum PC, Vainzof M , Zatz M. SJL dystrophic mice express a significant amount of human muscle proteins following systemic delivery of human adipose-derived stromal cells without immunosuppression . Stem Cells. 2008 Sep;26(9):2391-8. doi: 10.1634/stemcells.2008-0043. Epub 2008 Jun 26.

46. Yamamoto LU, Velloso FJ, Lima BL, Fogaça LL, de Paula F, Vieira NM, Zatz M, Vainzof M. Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene. J Histochem Cytochem . J Histochem Cytochem. 2008 Nov;56(11):995-1001. doi: 10.1369/jhc.2008.951772. Epub 2008 Jul 21.

47. Yeh E, Kimura L, Errera FI, Angeli CB,Mingroni-Netto RC, Silva ME, Canani LH, Passos-Bueno MR. Association of polymorphisms at the ADIPOR1 regulatory region with type 2 diabetes and body mass index in a Brazilian population with European or African ancestry . Braz J Med Biol Res. 2008 Jun;41(6):468-72.

48. Zechi-Ceide RM, Jesus Oliveira NA, Guion-Almeida ML, Antunes LF, Richieri-Costa A, Passos-Bueno MR. Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis . Eur J Med Genet. May-Jun 2008;51(3):183-96. doi: 10.1016/j.ejmg.2007.12.008. Epub 2008 Jan 9.

49. Zechi-Ceide RM, Jesus Oliveira NA, Guion-Almeida ML, Antunes LF, Richieri-Costa A, Passos-Bueno MR. Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene . Clin Dysmorphol. 2008 Jul;17(3):225-6. doi: 10.1097/MCD.0b013e3282fe1b8e.