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Publicações 2007

1. Amorim GC, Pinheiro AS, Netto LE, Valente AP, Almeida FC. NMR solution structure of the reduced form of thioredoxin 2 from Saccharomyces cerevisiae . J Biomol NMR. 2007 May;38(1):99-104. doi: 10.1007/s10858-007-9144-z. Epub 2007 Mar 6.

2. Armelini MG, Lima-Bessa KM, Marchetto MC, Muotri AR, Chiganças V, Leite RA, Carvalho H, Menck CF. Exploring DNA damage responses in human cells with recombinant adenoviral vectors . Hum Exp Toxicol. 2007 Nov;26(11):899-906. doi: 10.1177/0960327107083556.

3. Batista LF, Roos WP, Christmann M, Menck CF, Kaina B. Differential sensitivity of malignant glioma cells to methylating and chloroethylating anticancer drugs: p53 determines the switch by regulating xpc, ddb2, and DNA double-strand breaks . Cancer Res. 2007 Dec 15;67(24):11886-95. doi: 10.1158/0008-5472.CAN-07-2964.

4. Bleyl SB, Byrne JL, South ST, Dries DC, Stevenson DA, Rope AF, Vianna-Morgante AM, Schoenwolf GC, Kivlin JD, Brothman A, Carey JC. Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes . Am J Med Genet A. 2007 Dec 1;143A(23):2785-95. doi: 10.1002/ajmg.a.32036.

5. Capelli LP, Gonçalves MR, Kok F, Leite CC, Nitrini R, Barbosa ER, Vianna-Morgante AM. Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat . Mov Disord. 2007 Apr 30;22(6):866-70. doi: 10.1002/mds.21347.

6. de Lima AR, Nyengaard JR, Jorge AA, Balieiro JC, Peixoto C, Fioretto ET, Ambrósio CE, Miglino MA, Zatz M, Ribeiro AA. Muscular dystrophy-related quantitative and chemical changes in adenohypophysis GH-cells in golden retrievers . Growth Horm IGF Res. 2007 Dec;17(6):480-91. Epub 2007 Jul 30.

7. De Mello Auricchio MT, Vicente JP, Meyer D, Mingroni-Netto RC. Frequency and origins of hemoglobin S mutation in African-derived Brazilian populations . Hum Biol. 2007 Dec;79(6):667-77. doi: 10.1353/hub.2008.0017.

8. de Oliveira MA, Genu V, Discola KF, Alves SV, Netto LE , Guimarães BG. Crystallization and preliminary X-ray analysis of a decameric form of cytosolic thioredoxin peroxidase 1 (Tsa1), C47S mutant, from Saccharomyces cerevisiae. Acta Crystallogr Sect F Struct Biol Cryst Commun . Acta Crystallogr Sect F Struct Biol Cryst Commun. 2007 Aug 1;63(Pt 8):665-8. doi: 10.1107/S1744309107031557. Epub 2007 Jul 7.

9. Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Passos-Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A. 2007 Dec 15;143A(24):3204-15. doi: 10.1002/ajmg.a.32078.

10. D’Angelo CS, Jehee FS, Koiffmann CP. An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior . Am J Med Genet A. 2007 Aug 15;143A(16):1928-32. doi: 10.1002/ajmg.a.31787.

11. Errera FI, Canani LH, Silva ME, Yeh E, Takahashi W, Santos KG, Souto KE, Tschiedel B, Roisenberg I, Gross JL, Passos-Bueno MR. Functional vascular endothelial growth factor -634G>C SNP is associated with proliferative diabetic retinopathy: a case-control study in a Brazilian population of European ancestry . Diabetes Care. 2007 Feb;30(2):275-9. doi: 10.2337/dc06-1399.

12. Fanganiello RD, Sertié AL, Reis EM, Yeh E, Oliveira NA, Bueno DF, Kerkis I, Alonso N, Cavalheiro S, Matsushita H, Freitas R, Verjovski-Almeida S, Passos-Bueno MR. Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells . Mol Med. 2007 Jul-Aug; 13(7-8): 422–442.doi: 10.2119/2007-00027.Fanganiello

13. Gonçalves MR, Capelli LP, Nitrini R, Barbosa ER, Porto CS, Lucato LT, Vianna-Morgante AM. Atypical clinical course of FXTAS: rapidly progressive dementia as the major symptom . Neurology. 2007 May 22;68(21):1864-6. doi.org/10.1212/01.wnl.0000262058.68100.ea

14. Gouveia TL, Kossugue PM, Paim JF, Zatz M, Anderson LV, Nigro V, Vainzof M. A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein . J Mol Med (Berl). 2007 Apr;85(4):415-20. doi: 10.1007/s00109-007-0163-8. Epub 2007 Jan 30.

15. Jehee FS, Bertola DR, Yelavarthi KK, Krepischi-Santos AC, Kim C, Vianna-Morgante AM, Vermeesch JR, Passos-Bueno MR. An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses . Am J Med Genet A. 2007 Aug 15;143A(16):1912-8. doi: 10.1002/ajmg.a.31863.

16. Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO. RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity . Am J Hum Genet. 2007 Jun;80(6):1162-70. doi: 10.1086/518047. Epub 2007 Apr 18.

17. Keren B, Suzuki OT, Gérard-Blanluet M, Brémond-Gignac D, Elmaleh M, Titomanlio L, Delezoide AL, Passos-Bueno MR, Verloes A. CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene . Am J Med Genet A. 2007 Jul 1;143A(13):1514-8. doi: 10.1002/ajmg.a.31784.

18. Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, Bakker E, Rosenberg C, Tanke HJ, Szuhai K. Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion . Eur J Hum Genet. 2007 May;15(5):548-55. doi: 10.1038/sj.ejhg.5201807. Epub 2007 Mar 7.

19. Kossugue PM, Paim JF, Navarro MM, Silva HC, Pavanello RC, Gurgel-Giannetti J, Zatz M, Vainzof M . Central core disease due to recessive mutations in RYR1 gene: is it more common than described? Muscle Nerve. 2007 May;35(5):670-4. doi: 10.1002/mus.20715.

20. Kriek M, Knijnenburg J, White SJ, Rosenberg C, den Dunnen JT, van Ommen GJ, Tanke HJ, Breuning MH, Szuhai K. Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH . Am J Med Genet A. 2007 Mar 15;143A(6):610-4. doi: 10.1002/ajmg.a.31593.

21. Lorenzoni PJ, Scola RH, Vieira N, Vainzof M, Carsten AL, Werneck LC. A novel missense mutation in the caveolin-3 gene in rippling muscle disease. Muscle Nerve. 2007 Aug;36(2):258-60.

22. Maegawa GH, Tropak M, Buttner J, Stockley T, Kok F, Clarke JT, Mahuran DJ. Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis . J Biol Chem. 2007 Mar 23;282(12):9150-61. doi: 10.1074/jbc.M609304200. Epub 2007 Jan 21.

23. Mazzeu JF, Krepischi-Santos AC, Rosenberg C, Szuhai K, Knijnenburg J, Weiss JM, Kerkis I, Mustacchi Z, Colin G, Mombach R, Pavanello Rde C, Otto PA, Vianna-Morgante AM. Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome . Am J Med Genet A. 2007 Aug 1;143A(15):1790-5. doi: 10.1002/ajmg.a.31661.

24. Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome . Am J Med Genet A. 2007 Feb 15;143(4):320-5. doi: 10.1002/ajmg.a.31592.

25. Menck CF , Armelini MG, Lima-Bessa KM. On the search for skin gene therapy strategies of xeroderma pigmentosum disease . Curr Gene Ther. 2007 Jun;7(3):163-74. doi: 10.2174/156652307780859017.

26. Mitne-Neto M, Kok F, Beetz C, Pessoa A, Bueno C, Graciani Z, Martyn M, Monteiro CB, Mitne G, Hubert P, Nygren AO, Valadares M, Cerqueira AM, Starling A, Deufel T, Zatz M. A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree . Eur J Hum Genet. 2007 Dec;15(12):1276-9. doi: 10.1038/sj.ejhg.5201924. Epub 2007 Sep 26.

27. Mitne-Neto M, Ramos CR, Pimenta DC, Luz JS, Nishimura AL, Gonzales FA, Oliveira CC, Zatz M. A mutation in human VAP-B–MSP domain, present in ALS patients, affects the interaction with other cellular proteins . Protein Expr Purif. 2007 Sep;55(1):139-46. doi: 10.1016/j.pep.2007.04.007. Epub 2007 Apr 20.

28. Monteiro G, Horta BB, Pimenta DC, Augusto O, Netto LE. Reduction of 1-Cys peroxiredoxins by ascorbate changes the thiol-specific antioxidant paradigm, revealing another function of vitamin C . Proc Natl Acad Sci U S A. 2007 Mar 20;104(12):4886-91. doi: 10.1073/pnas.0700481104. Epub 2007 Mar 14.

29. Netto LE , de Oliveira MA, Monteiro G, Demasi AP, Cussiol JR, Discola KF, Demasi M, Silva GM, Alves SV, Faria VG, Horta BB. Reactive cysteine in proteins: protein folding, antioxidant defense, redox signaling and more . Comp Biochem Physiol C Toxicol Pharmacol. Jul-Aug 2007;146(1-2):180-93. doi: 10.1016/j.cbpc.2006.07.014. Epub 2006 Sep 6.

30. Nunes VA, Cavaçana N, Canovas M, Strauss BE, Zatz M. Stem cells from umbilical cord blood differentiate into myotubes and express dystrophin in vitro only after exposure to in vivo muscle environment . Biol Cell. 2007 Apr;99(4):185-96. doi: 10.1042/BC20060075.

31. Ogusucu R, Rettori D, Munhoz DC, Netto LE, Augusto O. Reactions of yeast thioredoxin peroxidases I and II with hydrogen peroxide and peroxynitrite: rate constants by competitive kinetics . Free Radic Biol Med. 2007 Feb 1;42(3):326-34. doi: 10.1016/j.freeradbiomed.2006.10.042. Epub 2006 Oct 20.

32. Rodriguez-Revenga L, Mila M, Rosenberg C, Lamb A, Lee C. Structural variation in the human genome: the impact of copy number variants on clinical diagnosis . Genet Med. 2007 Sep;9(9):600-6. doi: 10.1097/gim.0b013e318149e1e3.

33. Roos WP, Batista LF, Naumann SC, Wick W, Weller M, Menck CF, Kaina B. Apoptosis in malignant glioma cells triggered by the temozolomide-induced DNA lesion O6-methylguanine . Oncogene. 2007 Jan 11;26(2):186-97. doi: 10.1038/sj.onc.1209785. Epub 2006 Jul 3.

34. Schmidt WM, Kraus C, Höger H, Hochmeister S, Oberndorfer F, Branka M, Bingemann S, Lassmann H, Müller M, Macedo-Souza LI, Vainzof M, Zatz M, Reis A, Bittner RE. Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration . EMBO Rep. 2007 Jul; 8(7): 691–697.Published online 2007 Jun 15. doi: 10.1038/sj.embor.7401001

35. Schwartz IV, Ribeiro MG, Mota JG, Toralles MB, Correia P, Horovitz D, Santos ES, Monlleo IL, Fett-Conte AC, Sobrinho RP, Norato DY, Paula AC, Kim CA, Duarte AR, Boy R, Valadares E, De Michelena M, Mabe P, Martinhago CD, Pina-Neto JM, Kok F, Leistner-Segal S, Burin MG, Giugliani R. A clinical study of 77 patients with mucopolysaccharidosis type II . Acta Paediatr. 2007 Apr;96(455):63-70. doi: 10.1111/j.1651-2227.2007.00212.x.

36. Silva MC, Meira ZM, Gurgel Giannetti J, da Silva MM, Campos AF, Barbosa Mde M, Starling Filho GM, Ferreira Rde A, Zatz M, Rochitte CE. Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy . J Am Coll Cardiol. 2007 May 8;49(18):1874-9. doi: 10.1016/j.jacc.2006.10.078. Epub 2007 Apr 23.

37. Tahara EB, Barros MH, Oliveira GA, Netto LE, Kowaltowski AJ. Dihydrolipoyl dehydrogenase as a source of reactive oxygen species inhibited by caloric restriction and involved in Saccharomyces cerevisiae aging. FASEB J. 2007 Jan;21(1):274-83. doi: 10.1096/fj.06-6686com. Epub 2006 Nov 16.

38. Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B,Rosenberg C, Field M, Vianna-Morgante AM, Christie L, Krepischi-Santos AC, Banna L, Brereton AV, Hill A, Bisgaard AM, Müller I, Hultschig C, Erdogan F, Wieczorek G, Ropers HH. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation . Hum Mutat. 2007 Jul;28(7):674-82. doi: 10.1002/humu.20546.

39. Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia . Am J Hum Genet. 2007 Jan;80(1):152-61. Epub 2006 Dec 1.

40. Zechi-Ceide RM, Guion-Almeida ML, de Oliveira Rodini ES, Jesus Oliveira NA, Passos-Bueno MR. Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation . Clinical Dysmorphology. 2007 Jul;16(3):163-6. doi: 10.1097/MCD.0b013e3280739753.