Publicações

2009

 Arashiro P, Eisenberg I, Kho AT, Cerqueira AM, Canovas M, Silva HC, Pavanello RC, Verjovski-Almeida S, Kunkel LM, Zatz M.  Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6220-5.

Barbirato C, Almeida MG, Milanez M, Sipolatti V, Rebouças MR, Akel AN Jr, Nunes VR, Perrone AM, Zatz M, Louro ID, Paula F. A novel COL1A1 gene-splicing mutation (c.1875+1G>C) in a Brazilian patient with osteogenesis imperfecta. Genet Mol Res. 2009 Feb 17;8(1):173-8.

Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC. Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. Ear Hear. 2009 Feb;30(1):1-7.

 

Batissoco AC, Auricchio MT, Kimura L, Tabith-Junior A, Mingroni-Netto RC.  A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family. Braz J Med Biol Res. 2009 Feb;42(2):168-71.

 

Batista LF, Kaina B, Meneghini R, Menck CF.  How DNA lesions are turned into powerful killing structures: insights from UV-induced apoptosis. Mutat Res. 2009 Mar-Jun;681(2-3):197-208.

 

Batista LF, Roos WP, Kaina B, Menck CF.  p53 mutant human glioma cells are sensitive to UV-C-induced apoptosis due to impaired cyclobutane pyrimidine dimer removal. Mol Cancer Res. 2009 Feb;7(2):237-46.

 

Brito, L. A. ; Cruz, L. A. ; Bueno, D. F. ; Bertola, D. ; Aguena, M. ; Passos-Bueno, M. R. Fatores genéticos têm maior contribuição na etiologia das fissuras lábio-palatinas no interior do Ceará (Região Metropolitana do Cariri), Brasil. Brazilian Journal of Craniomaxillofacial Surgery, v. 12, p. 151-154, 2009.

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.

 

Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15;18(12):2188-203. Epub 2009 Mar 26.

 

Catelani AL, Krepischi AC, Kim CA, Kok F, Otto PA, Auricchio MT, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith A Jr, Vianna-Morgante AM, Mingroni-Netto RC, Rosenberg C. Chromosome imbalances in syndromic hearing loss. Clin Genet. 2009 Nov;76(5):458-64. Epub 2009 Oct 6.

 

Christofolini DM, Abbud EM, Lipay MV, Costa SS, Vianna-Morgante AM, Bellucco FT, Nogueira SI, Kulikowski LD, Brunoni D, Juliano Y, Ramos MA, Melaragno MI.  Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males: proposal for a new screening tool. J Intellect Disabil. 2009 Sep;13(3):239-48.

 

Comim CM, Cassol-Jr OJ, Constantino LC, Constantino LS, Petronilho F, Tuon L, Vainzof M, Dal-Pizzol F, Quevedo J.  Oxidative variables and antioxidant enzymes activities in the mdx mouse brain. Neurochem Int. 2009 Dec;55(8):802-5. Epub 2009 Aug 12.

 

Comim CM, Tuon L, Stertz L, Vainzof M, Kapczinski F, Quevedo J.  Striatum brain-derived neurotrophic factor levels are decreased in dystrophin-deficient mice. Neurosci Lett. 2009 Aug 7;459(2):66-8.

 

Della Manna T, Battistim C, Radonsky V, Savoldelli RD, Damiani D, Kok F, Pearson ER, Ellard S, Hattersley AT, Reis AF.  Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1350-5.

 

Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Della Giustina E, Calabrese O, Melone MA, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, van der Knaap MS, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM.  Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Hum Mutat. 2009 Mar;30(3):E500-19.

 

Discola KF, de Oliveira MA, Rosa Cussiol JR, Monteiro G, Bárcena JA, Porras P, Padilla CA, Guimarães BG, Netto LE.  Structural aspects of the distinct biochemical properties of glutaredoxin 1 and glutaredoxin 2 from Saccharomyces cerevisiae. J Mol Biol. 2009 Jan 23;385(3):889-901. Epub 2008 Oct 28.

 

D’Angelo CS, Gajecka M, Kim CA, Gentles AJ, Glotzbach CD, Shaffer LG, Koiffmann CP.  Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements. Hum Genet. 2009 Jun;125(5-6):551-63.

 

Fagali C, Kok F, Nicola P, Kim C, Bertola D, Albano L, Koiffmann CP.  MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. Eur J Med Genet. 2009 Sep-Oct;52(5):333-6. Epub 2009 Jul 9.

 

Gifalli-Iughetti C, Koiffmann CP. The Y chromosome of the Atelidae family (Platyrrhini): study by chromosome microdissection. Cytogenet Genome Res. 2009;125(1):46-53.

 

Griesi-Oliveira, K.; Orabona, G. M. ; Vadasz, E. ; Bulcao, V ; Takahashi, V ; Moreira, E ; Furiasilva, M; Rosmelo, A ; Dourado, F ; Matioli, R .  HTR1B and HTR2C in autism spectrum disorders in Brazilian families. Brain Research, v. 1250, p. 14-19, 2009.

 

Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM.  Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? Am J Med Genet A. 2009 Dec;149A(12):2762-4.

 

Hugo M, Turell L, Manta B, Botti H, Monteiro G, Netto LE, Alvarez B, Radi R, Trujillo M. Thiol and sulfenic acid oxidation of AhpE, the one-cysteine peroxiredoxin from Mycobacterium tuberculosis: kinetics, acidity constants, and conformational dynamics. Biochemistry. 2009 Oct 13;48(40):9416-26.

 

Iughetti, Cristiani G. ; Koiffmann, C.P b. Synteny of human chromosomes 14 and 15 in the platyrrhines (Primates: Platyrrhini). Genet  Mol Biol, 32,4,786-791.

 

Jazedje T, Perin PM, Czeresnia CE, Maluf M, Halpern S, Secco M, Bueno DF, Vieira NM, Zucconi E, Zatz M.  Human fallopian tube: a new source of multipotent adult mesenchymal stem cells discarded in surgical procedures. J Transl Med. 2009 Jun 18;7:46.

 

Jazedje T, Secco M, Vieira NM, Zucconi E, Gollop TR, Vainzof M, Zatz M. Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro. J Transl Med. 2009 Jan 14;7:6.

 

Jehee FS, Burin BA, Rocha KM, Zechi-Ceide R, Bueno DF, Brito L, Souza J, Leal GF, Richieri-Costa A, Alonso N, Otto PA, Passos-Bueno MR.  Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? Am J Med Genet A. 2009 Jun;149A(6):1319-22.

 

Krepischi-Santos AC, Rajan D, Temple IK, Shrubb V, Crolla JA, Huang S, Beal S, Otto PA, Carter NP, Vianna-Morgante AM, Rosenberg C. Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. Cytogenet Genome Res. 2009;125(1):1-7.

 

Kuczynski E, Bertola DR, Castro CI, Koiffmann CP, Kim CA. Infantile autism and 47,XYY karyotype. Arq Neuropsiquiatr. 2009 Sep;67(3A):717-8.

 

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. Epub 2008 Aug 14.

 

Lezirovitz K, Braga MC, Thiele-Aguiar RS, Auricchio MT, Pearson PL, Otto PA, Mingroni-Netto RC. A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21.  Clin Genet. 2009 May;75(5):490-3. Epub 2009 Jan 21.

 

Lima FT, Brunoni D, Schwartzman JS, Pozzi MC, Kok F, Juliano Y, Pereira Lda V. Genotype-phenotype correlation in Brazillian Rett syndrome patients.  Arq Neuropsiquiatr. 2009 Sep;67(3A):577-84.

 

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. Epub 2008 Nov 12.

 

Macedo-Souza LI, Kok F, Santos S, Licinio L, Lezirovitz K, Cavaçana N, Bueno C, Amorim S, Pessoa A, Graciani Z, Ferreira A, Prazeres A, de Melo AN, Otto PA, Zatz M. Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes. Ann Hum Genet. 2009 May;73(Pt 3):382-7.

 

Masotti C, Ornelas CC, Splendore-Gordonos A, Moura R, Félix TM, Alonso N, Camargo AA, Passos-Bueno MR. Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients. BMC Med Genet. 2009 Dec 14;10:136.

 

Nishimura AL, Oliveira JR, Zatz M.  The human serotonin transporter gene explains why some populations are more optimistic? Mol Psychiatry. 2009 Sep;14(9):828.

 

Ogusucu R, Rettori D, Netto LE, Augusto O.  Superoxide dismutase 1-mediated production of ethanol- and DNA-derived radicals in yeasts challenged with hydrogen peroxide: molecular insights into the genome instability of peroxiredoxin-null strains. J Biol Chem. 2009 Feb 27;284(9):5546-56.

Okamoto, OK. Cancer stem cell genomics: the quest for early markers of malignant progression. Expert Review of Molecular Diagnostics, v. 9, p. 545-554, 2009. 
 

 

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. Epub 2008 Aug 15.

 

 

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.

 

 

Passos-Bueno MR, Ornelas CC, Fanganiello RD. Syndromes of the first and second pharyngeal arches: A review. Am J Med Genet A. 2009 Aug;149A(8):1853-9.

 

Romanos J, Kimura L, Fávero ML, Izarra FA, de Mello Auricchio MT, Batissoco AC, Lezirovitz K, Abreu-Silva RS, Mingroni-Netto RC.  Novel OTOF mutations in Brazilian patients with auditory neuropathy. J Hum Genet. 2009 Jul;54(7):382-5.

 

Schuch AP, da Silva Galhardo R, de Lima-Bessa KM, Schuch NJ, Menck CF. Development of a DNA-dosimeter system for monitoring the effects of solar-ultraviolet radiation. Photochem Photobiol Sci. 2009 Jan;8(1):111-20. Epub 2008 Nov 20.

 

Secco M, Moreira YB, Zucconi E, Vieira NM, Jazedje T, Muotri AR, Okamoto OK, Verjovski-Almeida S, Zatz M. Gene expression profile of mesenchymal stem cells from paired umbilical cord units: cord is different from blood. Stem Cell Rev. 2009 Dec;5(4):387-401.

 

Suzuki O, Kague E, Bagatini K, Tu H, Heljasvaara R, Carvalhaes L, Gava E, de Oliveira G, Godoi P, Oliva G, Kitten G, Pihlajaniemi T, Passos-Bueno MR. Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. Mol Vis. 2009;15:801-9.

 

Valente V, Teixeira SA, Neder L, Okamoto OK, Oba-Shinjo SM, Marie SK, Scrideli CA, Paçó-Larson ML, Carlotti CG Jr. Selection of suitable housekeeping genes for expression analysis in glioblastoma using quantitative RT-PCR. BMC Molecular Biology, v. 10, p. 17, 2009.

 

Yeh, Erika ; Sunaga, Daniele Yumi; Fanganiello, R. D ; Passos-Bueno, Maria Rita .  06-P007 Different functional roles of FGF2 and FGF10 signaling in S252W FGFR2 cells: Impact in the Apert phenotype?. Mechanisms of Development, v. 126, p. S122-S122, 2009.

 

Zanoteli E, Vergani N, Campos Y, Vainzof M, Oliveira AS, d’Azzo A.  Mitochondrial alterations in dynamin 2-related centronuclear myopathy. Arq Neuropsiquiatr. 2009 Mar;67(1):102-4.

Zatz M.  Stem cell researches in Brazil: present and future challenges. Stem Cell Rev. 2009 Jun;5(2):123-9.

Zucconi E, Jazedje T, Valadares MC, Zatz M. 
Comments to the paper by Ambrósio CE, Fadel L, Gaiad TP, Martins DS, et al. [Identification of three distinguishable phenotypes in golden retriever muscular dystrophy (Genet. Mol. Res. 2009 Apr 7;8 (2): 389-396)]. Genet Mol Res. 2009 Jul 21;8(3):818-21.