Mayana Zatz

Summary

Country: Brazil

Publications

  1. pmc The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12
    E S Moreira
    Departamento de Biologia, Universidade de Sao Paulo, Brazil
    Am J Hum Genet 61:151-9. 1997
  2. ncbi request reprint Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin-glycoprotein complex
    M Vainzof
    Departamento de Neurologia, FMUSP, Sao Paulo, Brazil
    Eur J Hum Genet 7:251-4. 1999
  3. ncbi request reprint Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
    E S Moreira
    1 Centro de Estudos do Genoma Humano, Universidade de Sao Paulo, Sao Paulo, Brazil
    Nat Genet 24:163-6. 2000
  4. ncbi request reprint Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?
    M M O Tonini
    Center for the study of Human Genome, Department of Biology, University of Sao Paulo, Rua do Matao, 277, CEP 05508 900, Sao Paulo, Brazil
    Neuromuscul Disord 12:554-7. 2002
  5. ncbi request reprint Telethonin protein expression in neuromuscular disorders
    Mariz Vainzof
    Center for the Study of the Human Genome, Department Biology, IBUSP, University of Sao Paulo, R do Matão, 277, sala 220 Cidade Universitária, Sao Paulo, Brazil
    Biochim Biophys Acta 1588:33-40. 2002
  6. doi request reprint A normal life without muscle dystrophin
    M Zatz
    Human Genome Research Center, Institute of Biosciences, Sao Paulo, Brazil Electronic address
    Neuromuscul Disord 25:371-4. 2015
  7. doi request reprint Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin
    M Zatz
    Human Genome Center, Biosciences Institute, University of Sao Paulo, Sao Paulo, Brazil Electronic address
    Neuromuscul Disord 24:986-9. 2014
  8. pmc Preclinical studies with umbilical cord mesenchymal stromal cells in different animal models for muscular dystrophy
    Eder Zucconi
    Human Genome Research Center, Biosciences Institute, University of Sao Paulo, Brazil
    J Biomed Biotechnol 2011:715251. 2011
  9. pmc Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals
    Mayana Zatz
    Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Universidade de Sao Paulo, Rua do Matao, 106, Cidade Universitaria, Sao Paulo, SP, 05508 090, Brazil
    Neuromolecular Med 14:281-4. 2012
  10. pmc Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article
    Marcelo Wajchenberg
    Universidade Federal de Sao Paulo, Rua Borges Lagoa 783, 5th floor Vila Clementino Sao Paulo ZIP 04038 032, Brazil
    Scoliosis 5:7. 2010

Detail Information

Publications105 found, 100 shown here

  1. pmc The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12
    E S Moreira
    Departamento de Biologia, Universidade de Sao Paulo, Brazil
    Am J Hum Genet 61:151-9. 1997
    ..We suggest that this form, which, interestingly, clinically resembles AR Kugelberg-Welander disease, should be classified as LGMD2G. In addition, our results indicate the existence of still another locus causing severe LGMD...
  2. ncbi request reprint Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin-glycoprotein complex
    M Vainzof
    Departamento de Neurologia, FMUSP, Sao Paulo, Brazil
    Eur J Hum Genet 7:251-4. 1999
    ..In addition the LGMD2C patient illustrates the potential risk of misdiagnosis using only dystrophin analysis, in cases with no positive family history, or when DNA analysis is not informative...
  3. ncbi request reprint Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
    E S Moreira
    1 Centro de Estudos do Genoma Humano, Universidade de Sao Paulo, Sao Paulo, Brazil
    Nat Genet 24:163-6. 2000
    ..2 Mb. The gene encoding telethonin, a sarcomeric protein, lies within this candidate region. We have found that mutations in the telethonin gene cause LGMD 2G, identifying a new molecular mechanism for AR LGMD...
  4. ncbi request reprint Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?
    M M O Tonini
    Center for the study of Human Genome, Department of Biology, University of Sao Paulo, Rua do Matao, 277, CEP 05508 900, Sao Paulo, Brazil
    Neuromuscul Disord 12:554-7. 2002
    ..These families illustrate the importance of testing all affected individuals in a family...
  5. ncbi request reprint Telethonin protein expression in neuromuscular disorders
    Mariz Vainzof
    Center for the Study of the Human Genome, Department Biology, IBUSP, University of Sao Paulo, R do Matão, 277, sala 220 Cidade Universitária, Sao Paulo, Brazil
    Biochim Biophys Acta 1588:33-40. 2002
    ..Therefore, the primary deficiency of calpain-3, dysferlin, sarcoglycans, and dystrophin do not seem to alter telethonin expression...
  6. doi request reprint A normal life without muscle dystrophin
    M Zatz
    Human Genome Research Center, Institute of Biosciences, Sao Paulo, Brazil Electronic address
    Neuromuscul Disord 25:371-4. 2015
    ..But most importantly, the demonstration that it is possible to have a functional muscle, in a medium-large animal even in the absence of dystrophin, brings new hope for Duchenne patients. ..
  7. doi request reprint Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin
    M Zatz
    Human Genome Center, Biosciences Institute, University of Sao Paulo, Sao Paulo, Brazil Electronic address
    Neuromuscul Disord 24:986-9. 2014
    ..Importantly, these observations indicate that it is possible to have a functional large muscle even without dystrophin. ..
  8. pmc Preclinical studies with umbilical cord mesenchymal stromal cells in different animal models for muscular dystrophy
    Eder Zucconi
    Human Genome Research Center, Biosciences Institute, University of Sao Paulo, Brazil
    J Biomed Biotechnol 2011:715251. 2011
    ..These observations may provide important information aiming future therapy for muscular dystrophies...
  9. pmc Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals
    Mayana Zatz
    Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Universidade de Sao Paulo, Rua do Matao, 106, Cidade Universitaria, Sao Paulo, SP, 05508 090, Brazil
    Neuromolecular Med 14:281-4. 2012
    ..We suggest that, in addition to family history, keeping the DNA of older relatives could be very informative, in particular for those interested in having their genome sequenced...
  10. pmc Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article
    Marcelo Wajchenberg
    Universidade Federal de Sao Paulo, Rua Borges Lagoa 783, 5th floor Vila Clementino Sao Paulo ZIP 04038 032, Brazil
    Scoliosis 5:7. 2010
    ..Other studies have suggested possible chromosome regions related to the etiology of idiopathic scoliosis. We report the genetic aspects of and investigate chromosome regions for adolescent idiopathic scoliosis in a Brazilian family...
  11. pmc Early transplantation of human immature dental pulp stem cells from baby teeth to golden retriever muscular dystrophy (GRMD) dogs: Local or systemic?
    Irina Kerkis
    Laboratório de Genética e Imunoquímica, Instituto Butantan, Sao Paulo, Brasil
    J Transl Med 6:35. 2008
    ....
  12. ncbi request reprint Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases
    M Zatz
    Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Brazil
    Am J Med Genet 78:361-5. 1998
    ..On the other hand, it shows the importance of testing all affected patients within each genealogy to prevent possible mistakes in carrier detection, genetic counseling, and prenatal diagnosis...
  13. ncbi request reprint Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes
    M Zatz
    Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Brazil
    Curr Opin Neurol 13:511-7. 2000
    ..It will depend on future knowledge of gene-protein functions, on protein interactions and on identifying modifying genes and other factors underlying clinical variability...
  14. ncbi request reprint The 10 autosomal recessive limb-girdle muscular dystrophies
    Mayana Zatz
    Human Genome Research Center, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Rua do Matão 277, Cidade Universitaria, CEP 05508 900, Sao Paulo, Brazil
    Neuromuscul Disord 13:532-44. 2003
    ..It will depend on future knowledge of gene expression, gene and protein interactions and on identifying modifying genes and other factors underlying clinical variability...
  15. ncbi request reprint Calpains and disease
    Mayana Zatz
    Human Genome Research Center, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    N Engl J Med 352:2413-23. 2005
  16. pmc Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro
    Tatiana Jazedje
    Department of Biology, Human Genome Research Center, Sao Paulo, Brazil
    J Transl Med 7:6. 2009
    ....
  17. doi request reprint Stem cell researches in Brazil: present and future challenges
    Mayana Zatz
    Human Genome Research Center, Biosciences Institute, University of Sao Paulo, Rua do Matão 277, Cidade Universitaria, caixa Postal 05508 090 São Paulo, Brazil
    Stem Cell Rev 5:123-9. 2009
    ..In addition, they could be referred to patients seeking information, aiming to protect them against financial and psychological harm...
  18. ncbi request reprint Human multipotent adipose-derived stem cells restore dystrophin expression of Duchenne skeletal-muscle cells in vitro
    Natassia M Vieira
    Human Genome Research Center, Biosciences Institute, University of Sao Paulo, Rua do Matao, CEP 05508 090, n 106 Cidade Universitária, Sao Paulo, SP, Brazil
    Biol Cell 100:231-41. 2008
    ..ASCs (adipose-derived stem cells) are able to restore dystrophin expression in the muscles of mdx (X-linked muscular dystrophy) mice. However, the outcome when these cells interact with human dystrophic muscle is still unknown...
  19. doi request reprint Mesenchymal stem cells derived from canine umbilical cord vein--a novel source for cell therapy studies
    Eder Zucconi
    Human Genome Research Center, Department of Genetic and Evolutive Biology, University of Sao Paulo, Sao Paulo, Brazil
    Stem Cells Dev 19:395-402. 2010
    ..Furthermore, our results open possibilities to use cUCV cells in preclinical trials for many well-characterized canine model conditions homologs to human diseases...
  20. pmc Gene expression profile of mesenchymal stem cells from paired umbilical cord units: cord is different from blood
    Mariane Secco
    Human Genome Research Center, Department of Genetic and Evolutive Biology, University of Sao Paulo, 106 Cidade Universitária, 05508 090 São Paulo, SP, Brazil
    Stem Cell Rev 5:387-401. 2009
    ..In addition, these findings reinforce our previous suggestion on the importance of banking the whole umbilical cord unit for research or future therapeutic use...
  21. doi request reprint Ringo: discordance between the molecular and clinical manifestation in a golden retriever muscular dystrophy dog
    Eder Zucconi
    Human Genome Research Center, Department of Genetic and Evolutive Biology, University of Sao Paulo, Sao Paulo, SP, Brazil
    Neuromuscul Disord 20:64-70. 2010
    ..In addition it points out that the clinical impact of therapeutic trials should be interpreted with caution...
  22. ncbi request reprint Mesenchymal stem cells from umbilical cord: do not discard the cord!
    Mariane Secco
    Human Genome Research Center, Department of Genetic and Evolutive Biology, University of Sao Paulo, Sao Paulo, SP, Brazil
    Neuromuscul Disord 18:17-8. 2008
  23. ncbi request reprint Calpainopathy: how broad is the spectrum of clinical variability?
    Alessandra Starling
    Human Genome Research Center, Department of Biology, University of Sao Paulo, Sao Paulo, Brazil
    J Mol Neurosci 21:233-6. 2003
    ..This family suggests that the clinical spectrum of calpainopathy might be broader and that this diagnosis might be considered in patients with an atypical motor neuron disease...
  24. ncbi request reprint Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer's disease?
    Agnes L Nishimura
    Human Genome Research Center, Biology Department, Institute of Biosciences, São Paulo University IBUSP, Sao Paulo, Brazil
    J Mol Neurosci 27:213-7. 2005
    ..It reinforces the hypothesis that different genes acting together might play a role in AD susceptibility. Based on these data, we suggest replicating these studies in larger samples of LOAD patients belonging to different ethnic groups...
  25. doi request reprint Systemic delivery of human mesenchymal stromal cells combined with IGF-1 enhances muscle functional recovery in LAMA2 dy/2j dystrophic mice
    Mariane Secco
    Human Genome Research Center, Department of Genetic and Evolutionary Biology, Institute of Biosciences, Sao Paulo, Brazil
    Stem Cell Rev 9:93-109. 2013
    ..Our results suggest that a combined treatment with IGF-1 and MSCs enhances efficiency of muscle repair and, therefore, should be further considered as a potential therapeutic approach in muscular dystrophies...
  26. pmc Human fallopian tube: a new source of multipotent adult mesenchymal stem cells discarded in surgical procedures
    Tatiana Jazedje
    Human Genome Research Center, Biosciences Institute, University of Sao Paulo, n degrees 106, Cidade Universitária São Paulo SP, CEP 05508 090, Brazil
    J Transl Med 7:46. 2009
    ..The aim of this study was to isolate, expand, characterize and assess the differentiation potential of MSCs from human fallopian tubes (hFTs)...
  27. pmc Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene
    Lydia U Yamamoto
    Human Genome Research Center, Biosciences Institute, University of Sao Paulo, Sao Paulo, Brazil
    J Histochem Cytochem 56:995-1001. 2008
    ....
  28. ncbi request reprint A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
    M R Bueno
    Department Biologia, Universidade de Sao Paulo, Brazil
    Hum Mol Genet 4:1163-7. 1995
    ..These results indicate that AR LGMD with a mild phenotype is caused by mutations in the adhalin gene. In addition, they demonstrate that there is at least one other locus for DLMD associated with adhalin deficiency...
  29. pmc Human fallopian tube mesenchymal stromal cells enhance bone regeneration in a xenotransplanted model
    Tatiana Jazedje
    Human Genome Research Center, Biosciences Institute, University of Sao Paulo, Sao Paulo, Brazil
    Stem Cell Rev 8:355-62. 2012
    ..In conclusion, htMSCs can be used successfully to enhance bone regeneration in vivo, opening a new field for future treatments of osteoporosis and bone reconstruction...
  30. ncbi request reprint Rod distribution and muscle fiber type modification in the progression of nemaline myopathy
    Juliana Gurgel-Giannetti
    Centro de Estudos do Genoma Humano, Department of Biology, IB, School of Medicine, University of Sao Paulo, SP CEP, Brazil
    J Child Neurol 18:235-40. 2003
    ....
  31. doi request reprint SJL dystrophic mice express a significant amount of human muscle proteins following systemic delivery of human adipose-derived stromal cells without immunosuppression
    Natassia M Vieira
    Human Genome Research Center, Biosciences Institute, University of Sao Paulo, Sao Paulo, Brazil
    Stem Cells 26:2391-8. 2008
    ..These results may have important applications for future therapy in patients with different forms of muscular dystrophies...
  32. ncbi request reprint A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21
    Alessandra Starling
    Human Genome Research Center, Department of Biology, University of Sao Paulo, Sao Paulo, Brazil
    Eur J Hum Genet 12:1033-40. 2004
    ..62 for marker D4S2964. Flanking markers place this locus between D4S2947 and D4S2409, within an interval of 9 cM. We propose to classify this AD form of LGMD as LGMD1G...
  33. pmc A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
    Agnes L Nishimura
    Human Genome Research Center, Department of Biology, Biosciences Institute, Sao Paulo University, Sao Paulo, Brazil
    Am J Hum Genet 75:822-31. 2004
    ..These data suggest that clinically variable MNDs may be caused by a dysfunction in intracellular membrane trafficking...
  34. ncbi request reprint Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN)
    Zodja Graciani
    Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, SP, Brazil
    Arq Neuropsiquiatr 68:3-6. 2010
    ..Hand grip strength showed a moderate inverse correlation with age. Combination of early onset spastic paraplegia and progressive polyneuropathy make SPOAN disability overwhelming...
  35. ncbi request reprint Stem cells from umbilical cord blood differentiate into myotubes and express dystrophin in vitro only after exposure to in vivo muscle environment
    Viviane A Nunes
    Human Genome Research Center, Department of Genetics and Evolutionary Biology, University of Sao Paulo, Sao Paulo, SP, Brazil
    Biol Cell 99:185-96. 2007
    ..However, it remains unclear if these cells are able to differentiate into muscle cells...
  36. ncbi request reprint Multipotent stem cells from umbilical cord: cord is richer than blood!
    Mariane Secco
    Human Genome Research Center, Department of Genetic and Evolutive Biology, University of Sao Paulo, Rua do Matao, n 106, Cidade Universitaria, Sao Paulo, SP, CEP 05508 090, Brazil
    Stem Cells 26:146-50. 2008
    ....
  37. pmc Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers
    Patricia Arashiro
    Human Genome Research Center, Department of Genetics and Evolutive Biology, Institute of Biosciences, University of Sao Paulo, 05508 090, Sao Paulo, Brazil
    Proc Natl Acad Sci U S A 106:6220-5. 2009
    ....
  38. ncbi request reprint Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13
    Lucia I Macedo-Souza
    Department of Biology, Institute of Biological Sciences and Center for Study of Human Genome, University of Sao Paulo, Brazil
    Ann Neurol 57:730-7. 2005
    ..8Mb and has more than 100 genes and expressed sequences. We propose the acronym SPOAN (spastic paraplegia, optic atrophy, and neuropathy) for this complex syndrome...
  39. doi request reprint Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype
    Juliana Gurgel-Giannetti
    Centro de Estudos do Genoma Humano IB USP, Biosciences Institute, University of Sao Paulo, R do Matão, 277, sala 220, CEP 05508 900 São Paulo, Brazil
    Muscle Nerve 45:279-83. 2012
    ..These findings confirm the autosomal recessive inheritance of the novel mutation in this family, as well as the occurrence of phenotypic variability in the autosomal recessive forms of myotonia...
  40. ncbi request reprint Association of MAO A polymorphism and alcoholism in Brazilian females
    Camila Guindalini
    Department of Biology, Human Genome Research Center, Institute of Biosciences, University of Sao Paulo, Rua do Matão Travessa 13, No 106, Cidade Universitária CEP, 05508 090 São Paulo, Brazil
    Psychiatr Genet 15:141-4. 2005
    ..Our results suggest that this monoamine oxidase A polymorphism could play a role in susceptibility to alcoholism, which may differ across sexes...
  41. ncbi request reprint A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein
    Telma L F Gouveia
    Departamento de Biologia, Centro de Estudos do Genoma Humano, IB, USP, Rua do Matao, 106, 05508 900, Sao Paulo, SP, Brazil
    J Mol Med (Berl) 85:415-20. 2007
    ..Additionally, LGMD2F, with retention of the part of the SGC, might be associated to a milder clinical course, which has important implications for clinical prognosis and genetic counseling of the family...
  42. doi request reprint Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes
    Lucia Inês Macedo-Souza
    Human Genome Research Center, Institute of Biosciences, University of Sao Paulo USP, Sao Paulo, Brazil
    Ann Hum Genet 73:382-7. 2009
    ..2 (with marker D11S987) and of 27.0 (with marker D11S1889). Three genes located in this newly defined critical region were sequenced, but no pathogenic mutation was detected. The gene responsible for SPOAN remains elusive...
  43. doi request reprint Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome
    Simone Amorim
    Department of Neurology, University of Sao Paulo School of Medicine, Sao Paulo, Brazil
    Muscle Nerve 49:131-3. 2014
    ..SPOAN (spastic paraplegia, optic atrophy, and neuropathy) syndrome is an autosomal recessive neurodegenerative disorder identified in a large consanguineous Brazilian family...
  44. ncbi request reprint Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers
    Mariz Vainzof
    Department of Genetics Biology, Human Genome Research Center, IB USP, R Matão, 106, Cidade Universitaria, Sao Paulo, SP CEP 05508 900, Brazil
    Neuromuscul Disord 15:588-94. 2005
    ....
  45. ncbi request reprint A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population
    Agnes L Nishimura
    Human Genome Research Center, Biosciences Institute, University of Sao Paulo, Rua do Matao, 277, sala 211, Cidade Universitaria, Sao Paulo, Brazil, CEP 05508 090
    Hum Genet 118:499-500. 2005
    ..Haplotype analysis shows a common founder for all families regardless of ancestry, with a founding event 23 generations ago (95% CI 13-39), consistent with the Portuguese colonization of Brazil...
  46. ncbi request reprint Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations
    Telma L F Gouveia
    Human Genome Research Center, Department of Biology, IBUSP, Sao Paulo, Brazil
    Diagn Mol Pathol 15:95-100. 2006
    ..Besides, even though the disorder studied is rare, the technique could be broadly applicable to other genes and disorders...
  47. ncbi request reprint Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
    Patrícia M Kossugue
    Department of Genetics, Human Genome Research Center, IB USP, R do Matão, 106, Sao Paulo, SP CEP 05508 900, Brazil
    Muscle Nerve 35:670-4. 2007
    ..Recessive inheritance in CCD may therefore be more common than previously appreciated, which has important implications for genetic counseling and MH prevention in affected families...
  48. doi request reprint Concordant utrophin upregulation in phenotypically discordant DMD/BMD brothers
    Mariz Vainzof
    Human Genome and Stem Cell Research Center, Biosciences Institute, University of Sao Paulo, Sao Paulo, Brazil Electronic address
    Neuromuscul Disord 26:197-200. 2016
    ..Finding the protective mechanisms in patients with milder course is of utmost interest to direct therapeutic targets. ..
  49. pmc Red-green color vision impairment in Duchenne muscular dystrophy
    Marcelo Fernandes Costa
    Departamento Psicologia Experimental, Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Hum Genet 80:1064-75. 2007
    ..001). In contrast, patients with DMD with deletion upstream of exon 30 had normal color vision. This color defect might be partially explained by a retina impairment related to dystrophin isoform Dp260...
  50. ncbi request reprint Association of genetic variants in alcohol dehydrogenase 4 with alcohol dependence in Brazilian patients
    Camila Guindalini
    Human Genome Research Center, Department of Biology, Institute of Biosciences, University of Sao Paulo, Rua do Matao, Travessa 13, Number 106, Cidade Universitária CEP 05508 090, Sao Paulo SP, Brazil
    Am J Psychiatry 162:1005-7. 2005
    ..The authors evaluated the association of three functional promoter polymorphisms of the ADH4 gene with alcohol dependence...
  51. ncbi request reprint A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree
    Miguel Mitne-Neto
    Departamento de Genética e Biologia Evolutiva, Human Genome Research Center, Bioscience Institute, University of Sao Paulo, Sao Paulo, Brazil
    Eur J Hum Genet 15:1276-9. 2007
    ..Understanding why some individuals, particularly women, are 'partially protected' from the effects of this and other pathogenic mutations is of utmost importance...
  52. pmc A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
    E S Moreira
    Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, SP, Brazil
    J Med Genet 35:951-3. 1998
    ..Interestingly, this new mutation is also associated with a severe clinical course. In addition, our results suggest that this form of severe AR LGMD is not very rare in our population...
  53. ncbi request reprint A family with McLeod syndrome and calpainopathy with clinically overlapping diseases
    A Starling
    Human Genome Research Center, University of Sao Paulo Medical School, Sao Paulo, Brazil
    Neurology 65:1832-3. 2005
    ..This illustrates the variable phenotype of XK mutations and suggests the possibility that CAPN3 heterozygotes may have their condition caused by nonallelic mutations in other unrelated genes...
  54. pmc Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report
    Thais Cuperman
    Laboratory of Muscle Proteins and Comparative Histopathology, Human Genome Research Center, Biosciences Institute, University of Sao Paulo, R, do Matão, 106 Cidade Universitária, Sao Paulo, SP CEP 05508 900, Brazil
    BMC Res Notes 7:487. 2014
    ..Recent next-generation sequencing methods are now identifying multiple numbers of variants in patients, in which interpretation and phenotype prevision is difficult...
  55. pmc Contamination of mesenchymal stem-cells with fibroblasts accelerates neurodegeneration in an experimental model of Parkinson's disease
    Marcia C L Pereira
    Disciplina de Neurologia Experimental, Escola Paulista de Medicina, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil
    Stem Cell Rev 7:1006-17. 2011
    ....
  56. ncbi request reprint Immunological methods for the analysis of protein expression in neuromuscular diseases
    Mariz Vainzof
    Departamento de Biologia, Centro de Estudos do Genoma Humano, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Methods Mol Biol 217:355-78. 2003
  57. ncbi request reprint Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance
    Edmar Zanoteli
    Department of Neurology, Universidade Federal de Sao Paulo UNIFESP, Sao Paulo, Brazil
    J Mol Neurosci 20:39-42. 2003
    ..The deficiency of ACTN3 in the muscle tissue of endurance athletes confirmed the redundancy of this protein for muscle function, even in muscles that are highly required...
  58. ncbi request reprint Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients
    Agnes L Nishimura
    Human Genome Research Center, Biology Department, Institute of Biosciences, University of São Paulo IBUSP, Sao Paulo, Brazil
    J Mol Neurosci 22:257-60. 2004
    ..It also shows the importance of replication studies in different populations, as susceptibility loci might differ in different ethnic groups; this will have important implications in future treatments with pharmacological agents...
  59. ncbi request reprint Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy
    Lydia U Yamamoto
    Department of Biology, Human Genome Research Center, Sao Paulo, Brazil
    Diagn Mol Pathol 13:167-71. 2004
    ..Besides, the possibility to detect it in the chorionic villous, mainly using positive markers, also offers a powerful tool for prenatal diagnosis...
  60. ncbi request reprint Global voices of science. When science is not enough: fighting genetic disease in Brazil
    Mayana Zatz
    Biosciences Institute, University of Sao Paulo, Rua do Matão 277, sala 211, São Paulo 05508 090, Brazil
    Science 308:55-7. 2005
  61. ncbi request reprint Mutations in the caveolin-3 gene: When are they pathogenic?
    F de Paula
    Centro de Estudos do Genoma Humano, IB USP, Sao Paulo, Brazil
    Am J Med Genet 99:303-7. 2001
    ....
  62. ncbi request reprint A novel stop codon mutation in the PMP22 gene associated with a variable phenotype
    K T Abe
    Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Rua do Matao 277 CEP, Sao Paulo 05508 900, Brazil
    Neuromuscul Disord 14:313-20. 2004
    ....
  63. doi request reprint A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
    Natassia M Vieira
    Human Genome and Stem Cell Center, Biosciences Institute, University of Sao Paulo, Sao Paulo, Brazil Program in Genomics, Department of Pediatrics and The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA, USA Department of Genetics, Harvard Medical School, Boston, MA, USA
    Hum Mol Genet 23:4103-10. 2014
    ..Understanding the role of these proteins in muscle might open new therapeutic approaches for muscular dystrophies. ..
  64. ncbi request reprint Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum
    Flavia de Paula
    1Centro de Estudos do Genoma Humano, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Eur J Hum Genet 11:923-30. 2003
    ....
  65. ncbi request reprint Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy
    Maria Manuela O Tonini
    Departamento de Biologia, Human Genome Research Center, Universidade de Sao Paulo, Rua do Matao, 277 Cidade Universitária, CEP 05508 090, Sao Paulo, SP, Brazil
    Hum Genet 119:23-8. 2006
    ..This finding supports the hypothesis that a mitotic contraction of D4Z4 is an early embryonic event and indicates that the degree of mosaicism in PBL is representative for that of muscle...
  66. ncbi request reprint Familial spongiform encephalopathy associated with a novel prion protein gene mutation
    R Nitrini
    Department of Neurology, Faculty of Medicine, University of Sao Paulo, Brazil
    Ann Neurol 42:138-46. 1997
    ..Therefore, we identified a novel prion disease variant characterized by an early onset and long duration of the symptoms, severe spongiform change with minimal gliosis, associated with a prion protein gene mutation at codon 183...
  67. ncbi request reprint Social adjustment in adult males affected with progressive muscular dystrophy
    S Eggers
    Centro de Miopatias, Departamento de Biologia, Universidade de Sao Paulo, Brazil
    Am J Med Genet 81:4-12. 1998
    ..Interestingly, the results of this study also suggest that high RRs do not affect relationships to the opposite sex...
  68. ncbi request reprint Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses
    M R Passos-Bueno
    Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Brazil
    Am J Med Genet 78:237-41. 1998
    ..In addition, we identified a new mutation (A337P) in the FGFR2 exon IIIc associated with Crouzon phenotype...
  69. ncbi request reprint Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population
    M Vainzof
    Departamento de Neurologia, Centro de Investigações em Neurologia, Faculdade de Medicina, Universidade de Sao Paulo, Brazil
    J Neurol Sci 164:44-9. 1999
    ..Consanguinity is also common in our SGP families...
  70. ncbi request reprint Genetic counseling for childless women at risk for Duchenne muscular dystrophy
    S Eggers
    Departamento de Biologia, Centro de Estudos do Genoma Humano, Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet 86:447-53. 1999
    ....
  71. ncbi request reprint Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family
    M Vainzof
    Centro de Estudos do Genoma Humano, Instituto de Biociencias, Universidade de Sao Paulo, R do Matão, 277, sala 220, Sao Paulo, SP CEP 05508 900, Brazil
    Muscle Nerve 23:984-8. 2000
    ..The normal expression of the other three SG proteins suggests that mutations close to the alpha-SG transmembrane domain might be less critical for complex integrity, and that weakness may occur despite its retention...
  72. ncbi request reprint Dysferlin protein analysis in limb-girdle muscular dystrophies
    M Vainzof
    Centro de Estudos do Genoma Humano, Dept Biology, IB, Universidade de Sao Paulo, Brazil
    J Mol Neurosci 17:71-80. 2001
    ..Dysferlin deficiency was found in 24 out of a total of 166 Brazilian AR-LGMD families screened for muscle proteins (approximately 14%), thus representing the second most frequent known LGMD form, after calpainopathy, in our population...
  73. ncbi request reprint Protein defects in neuromuscular diseases
    M Vainzof
    Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, SP, Brasil
    Braz J Med Biol Res 36:543-55. 2003
    ..The main objective of this review is to summarize the most recent findings in the field and our own contribution...
  74. doi request reprint Stem cell proliferation under low intensity laser irradiation: a preliminary study
    Fernanda de P Eduardo
    Hospital Israelita Albert Einstein, Unit of Bone Marrow Transplantation, São Paulo 05651 901, SP, Brazil
    Lasers Surg Med 40:433-8. 2008
    ..The aim of this in vitro study was to evaluate the potential effect of laser phototherapy (660 nm) on human dental pulp stem cell (hDPSC) proliferation...
  75. ncbi request reprint Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases
    U C Reed
    Department of Neurology, Clinicas Hospital, School of Medicine, University of Sao Paulo, Brazil
    J Child Neurol 15:172-8. 2000
    ....
  76. ncbi request reprint Nebulin expression in patients with nemaline myopathy
    J Gurgel-Giannetti
    Department of Neurology, LIM 15, School of Medicine, , SP, , Brazil
    Neuromuscul Disord 11:154-62. 2001
    ..Our results suggest that presence/absence of specific nebulin Z-band epitopes in rod structures is variable and could depend on the degree of rod organization...
  77. pmc The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A
    M Vainzof
    Human Genome Research Centre, Department of Biology, IBUSP, University of Sao Paulo, Sao Paulo, São Paulo CEP, 05508 900, SP Brazil
    J Clin Pathol 56:624-6. 2003
    ..These findings suggest that a peculiar pattern of focal degeneration occurs in calpainopathy, independently of the type of mutation or the amount of calpain 3 in the muscle...
  78. ncbi request reprint Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I
    N M Vieira
    Human Genome Research Center, Biosciences Institute, University of Sao Paulo, Brazil
    Neuromuscul Disord 16:870-3. 2006
    ..The two oldest sisters with a severe phenotype carried two maternal mutations V79M and P89A. However, the youngest sister with a milder course carried the paternal and only the V79M maternal mutation, due to an intragenic recombination...
  79. pmc Neuromuscular disorders: genes, genetic counseling and therapeutic trials
    Mayana Zatz
    Human Genome and Research Center HUG CELL, Instituto de Biociencias, Universidade de Sao Paulo USP, Sao Paulo, SP, Brazil
    Genet Mol Biol 39:339-48. 2016
    ..Finally, the integration of our researches and genetic services with our post-graduation program resulted in a significant output of new geneticists, spreading out this expertise to our large country. ..
  80. ncbi request reprint Different Donors Mesenchymal Stromal Cells Secretomes Reveal Heterogeneous Profile of Relevance for Therapeutic Use
    Amanda Assoni
    1 Human Genome and Stem Cell Research Center, Institute of Biosciences University of São Paulo, Sao Paulo, Brazil
    Stem Cells Dev . 2016
    ..Despite the individual differences a pool of conditioned media from all MSCs lineages was able to delay apoptosis and enhance migration when in contact with DMD myoblasts...
  81. doi request reprint Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial
    Marly Conceição Silva
    Heart Institute, InCor, University of Sao Paulo Medical School, Sao Paulo, Brazil2Axial Medicina Diagnóstica Belo Horizonte, Minas Gerais, Brazil
    JAMA Cardiol . 2016
    ..In Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), interventions reducing the progression of myocardial disease could affect survival...
  82. doi request reprint Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome
    Uirá S Melo
    Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Biosciences Institute, University of Sao Paulo USP, Sao Paulo, SP 05508 090, Brazil
    Hum Mol Genet 24:6877-85. 2015
    ..Although the molecular mechanism of KLC2 up-regulation still remains to be uncovered, such example adds to the importance of non-coding regions in human pathology. ..
  83. pmc Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype
    Natassia M Vieira
    The Division of Genetics and Genomics, Boston Children s Hospital, Boston, MA 02115, USA Department of Pediatrics and Genetics, Harvard Medical School, Boston, MA 02115, USA Human Genome and Stem Cell Center, Biosciences Institute, University of Sao Paulo, São Paulo 05508 090, Brazil
    Cell 163:1204-13. 2015
    ..Functional analyses demonstrate that Jagged1 overexpression ameliorates the dystrophic phenotype, suggesting that Jagged1 may represent a target for DMD therapy in a dystrophin-independent manner. PAPERCLIP...
  84. pmc Combined effect of AMPK/PPAR agonists and exercise training in mdx mice functional performance
    Carlos R Bueno Júnior
    Human Genome Research Center Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil
    PLoS ONE 7:e45699. 2012
    ..Our results suggest that the association of ET and EM should be further tested as a potential therapeutic approach in muscular dystrophies...
  85. ncbi request reprint Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
    M R Passos-Bueno
    Departamento de Biologia, Instituto de Biociencias, Sao Paulo, Brazil
    Hum Mol Genet 5:815-20. 1996
    ..In addition, linkage analysis in the other two genealogies that are alpha-sarcoglycan positive suggests that there is at least one other gene which causes AR LGMD...
  86. ncbi request reprint Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)
    M M O Tonini
    Human Genome Research Center, Departamento de Biologia, Universidade de Sao Paulo, Rua do Matao 277 Cidade Universitariá CEP, 05508 900, Sao Paulo, Brazil
    Neuromuscul Disord 14:33-8. 2004
    ..The gender difference in clinical manifestation as well as the observation that asymptomatic carriers are not rare should be taken into consideration in genetic counseling of affected patients or 'at-risk' relatives...
  87. pmc Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype
    M M O Tonini
    Human Genome Research Centre, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    J Med Genet 41:e17. 2004
  88. ncbi request reprint Muscular dystrophy-related quantitative and chemical changes in adenohypophysis GH-cells in golden retrievers
    A R De Lima
    Laboratory of Stereology and Chemical Anatomy, Department of Surgery, College of Veterinary Medicine, University of Sao Paulo, Brazil
    Growth Horm IGF Res 17:480-91. 2007
    ..In contrast to earlier reports, our data suggest that a lower IGF-1 concentration may be more related to a severe, as opposed to a benign, clinical form of muscular dystrophy...
  89. pmc Human Tubal-Derived Mesenchymal Stromal Cells Associated with Low Level Laser Therapy Significantly Reduces Cigarette Smoke-Induced COPD in C57BL/6 mice
    Jean Pierre Schatzmann Peron
    Neuroimmune Interactions Laboratory, Department of Immunology, Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, SP, Brazil
    PLoS ONE 10:e0136942. 2015
    ..In summary, our data suggests that the concomitant use of MSCs + LLLT may be a promising therapeutic approach for lung inflammatory diseases as COPD. ..
  90. doi request reprint Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features
    Ellaine Carvalho
    Genetics Unit, Instituto da Criança, Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 167:1039-46. 2015
    ....
  91. ncbi request reprint CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients
    Andrea L Ferreira Bernardino
    Human Genome Research Center, University of Sao Paulo, Sao Paulo, Brazil
    JOP 4:169-77. 2003
    ..However, the inheritance pattern is still not clear...
  92. ncbi request reprint [Myotonic dystrophy and heart disease: behavior of arrhythmic events and conduction disturbances]
    Silvana Angelina D Orio Nishioka
    Instituto do Coracao, Hospital das Clinicas, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP
    Arq Bras Cardiol 84:330-6. 2005
    ....
  93. ncbi request reprint Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
    A L Sertié
    Department of Biology, University of Sao Paulo, Brazil
    Hum Mol Genet 9:2051-8. 2000
    ..Therefore, we show for the first time that the absence of a collagen isoform impairs embryonic cell proliferation and/or migration as a primary or secondary effect...
  94. ncbi request reprint No evidence of association between the D10S1423 locus and Alzheimer disease in Brazilian patients
    A L Nishimura
    Center of the Study of the Human Genome, Department of Biology, Institute of Biosciences, , Brazil
    J Neural Transm 108:305-10. 2001
    ..However, no statistically significant association between any D10S1423 allele was observed in AD patients as well as in controls...
  95. ncbi request reprint Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17
    R Nitrini
    Department of Neurology, Faculty of Medicine, University of Sao Paulo, Sao Paulo, Brazil
    Arq Neuropsiquiatr 59:161-4. 2001
    ..To compare the clinical features of a familial prion disease with those of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)...
  96. ncbi request reprint Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene
    J S Schwartzman
    Universidade Mackenzie, , Brazil
    Neuropediatrics 32:162-4. 2001
    ....
  97. ncbi request reprint Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy
    J Gurgel-Giannetti
    Center for the Study of the Human Genome, Biosciences Institute, University of Sao Paulo, R do Matão 106, São Paulo SP CEP 05508 900, Brazil
    Muscle Nerve 25:747-52. 2002
    ..Protein analysis may represent a good screening method to direct molecular studies in the case of very large and complex genes such as the large 1298 kb nebulin gene...
  98. ncbi request reprint Further evidence for a fourth gene causing X-linked pure spastic paraplegia
    A Starling
    Centro de Estudos do Genoma Humano, Departamento de Biologia, Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet 111:152-6. 2002
    ..These results suggest either that there is another X-linked gene in close proximity to the PLP gene or that a novel mutation in the noncoding regions of the PLP gene may cause the disease in this family...
  99. ncbi request reprint A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3
    A L Sertié
    Departamento de Biologia, Universidade de Sao Paulo, Brazil
    Hum Mol Genet 5:843-7. 1996
    ..A total of nine markers spanning a region of 15.2 cM of the chromosome 21q22.3 were tested and the candidate region was restricted to an interval of 4.3 cM...
  100. ncbi request reprint A mutation in human VAP-B--MSP domain, present in ALS patients, affects the interaction with other cellular proteins
    M Mitne-Neto
    Human Genome Research Center, Bioscience Institute, University of Sao Paulo, SP, Brazil
    Protein Expr Purif 55:139-46. 2007
    ..Understanding the role of these protein interactions may help the treatment of this devastating disease in the future...
  101. ncbi request reprint Clinical variability in calpainopathy: what makes the difference?
    Flavia de Paula
    Human Genome Research Center Departamento de Biologia, IB Universidade de São Paulo, Brazil
    Eur J Hum Genet 10:825-32. 2002
    ..Interestingly, it was observed that, on average, African-Brazilian calpainopathy patients are more severely affected than Caucasians...