Mayana Zatz

Mayana Zatz

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Mayana Zatz

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10q23.31 microduplication encompassing decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly.

J Med Genet 2019 Aug 9;56(8):543-547. Epub 2018 Oct 9.

Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1136/jmedgenet-2018-105471DOI Listing
August 2019

The Role of Pericytes in Amyotrophic Lateral Sclerosis.

Adv Exp Med Biol 2019 ;1147:137-146

Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1007/978-3-030-16908-4_6DOI Listing
August 2019

Adult and iPS-derived non-parenchymal cells regulate liver organoid development through differential modulation of Wnt and TGF-β.

Stem Cell Res Ther 2019 Aug 15;10(1):258. Epub 2019 Aug 15.

Human Genome and Stem-Cell Research Center (HUG-CEL), Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1186/s13287-019-1367-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694663PMC
August 2019

Human Adipose-Derived CD146 Stem Cells Increase Life Span of a Muscular Dystrophy Mouse Model More Efficiently than Mesenchymal Stromal Cells.

DNA Cell Biol 2018 Sep 30;37(9):798-804. Epub 2018 Jul 30.

Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo , São Paulo, SP, Brazil.

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http://dx.doi.org/10.1089/dna.2018.4158DOI Listing
September 2018

Helping our country as women scientists.

Authors:
Mayana Zatz

Nat Cell Biol 2018 Sep;20(9):1012

Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1038/s41556-018-0161-9DOI Listing
September 2018

A fast method to reprogram and CRISPR/Cas9 gene editing from erythroblasts.

Stem Cell Res 2018 08 4;31:52-54. Epub 2018 Jul 4.

Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center, Biosciences Institute, University of São Paulo (USP), São Paulo, SP 05508-900, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.07.002DOI Listing
August 2018

Down Syndrome iPSC-Derived Astrocytes Impair Neuronal Synaptogenesis and the mTOR Pathway In Vitro.

Mol Neurobiol 2018 Jul 11;55(7):5962-5975. Epub 2017 Nov 11.

Department of Neurosurgery and Neurology, Laboratory of Neuroscience, Universidade Federal de São Paulo (UNIFESP/EPM), São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1007/s12035-017-0818-6DOI Listing
July 2018

Development of a comprehensive noninvasive prenatal test.

Genet Mol Biol 2018 Jul/Sept.;41(3):545-554. Epub 2018 Jul 16.

Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/1678-4685-GMB-2017-0177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136382PMC
July 2018

Zika Virus Selectively Kills Aggressive Human Embryonal CNS Tumor Cells and .

Cancer Res 2018 06 26;78(12):3363-3374. Epub 2018 Apr 26.

Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo (USP), São Paulo, Brazil.

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http://dx.doi.org/10.1158/0008-5472.CAN-17-3201DOI Listing
June 2018

Complexity of the 5' Untranslated Region of , a Critical Factor for Craniofacial and Neural Development.

Front Genet 2018 25;9:149. Epub 2018 Apr 25.

Centro de Estudos do Genoma Humano e Células Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.3389/fgene.2018.00149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996909PMC
April 2018

Deepening a Simple Question: Can MSCs Be Used to Treat Cancer?

Anticancer Res 2017 09;37(9):4747-4758

Human Genome and Stem Cell Research Center, Biosciences Institute, University of Sao Paulo, Sao Paulo, Brazil

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http://dx.doi.org/10.21873/anticanres.11881DOI Listing
September 2017

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Am J Med Genet A 2017 Apr;173(4):938-945

Centro de Pesquisas Sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.38101DOI Listing
April 2017

Different Donors Mesenchymal Stromal Cells Secretomes Reveal Heterogeneous Profile of Relevance for Therapeutic Use.

Stem Cells Dev 2017 02 20;26(3):206-214. Epub 2016 Oct 20.

1 Human Genome and Stem Cell Research Center, Institute of Biosciences University of São Paulo , São Paulo, Brazil .

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http://dx.doi.org/10.1089/scd.2016.0218DOI Listing
February 2017

Transplantation of Human Adipose Mesenchymal Stem Cells in Non-Immunosuppressed GRMD Dogs is a Safe Procedure.

Stem Cell Rev Rep 2016 Aug;12(4):448-53

Human Genome and Stem-cell Research Center, Institute of Biosciences, University of São Paulo, Rua do Matão, n.106 - Cidade Universitária, São Paulo, SP, Brasil, 05508-090.

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http://dx.doi.org/10.1007/s12015-016-9659-3DOI Listing
August 2016

Neuromuscular disorders: genes, genetic counseling and therapeutic trials.

Genet Mol Biol 2016 Jul-Sep;39(3):339-48

Human Genome and Research Center (HUG-CELL), Instituto de Biociências, Universidade de São Paulo (USP), São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/1678-4685-GMB-2016-0019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004840PMC
August 2016

Dystrophin Is Required for Proper Functioning of Luminance and Red-Green Cone Opponent Mechanisms in the Human Retina.

Invest Ophthalmol Vis Sci 2016 07;57(8):3581-7

Núcleo de Neurociências e Comportamento, Universidade de São Paulo, São Paulo, Brasil 2Departamento de Psicologia Experimental, Instituto de Psicologia, Universidade de São Paulo, São Paulo, Brasil.

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http://dx.doi.org/10.1167/iovs.16-19287DOI Listing
July 2016

Concordant utrophin upregulation in phenotypically discordant DMD/BMD brothers.

Neuromuscul Disord 2016 Mar 25;26(3):197-200. Epub 2016 Jan 25.

Human Genome and Stem-Cell Research Center, Biosciences Institute, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.nmd.2016.01.001DOI Listing
March 2016

Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.

Hum Mol Genet 2015 Dec 18;24(24):6877-85. Epub 2015 Sep 18.

Northeast Biotechnology Network (RENORBIO), Federal University of Paraiba (UFPB), Joao Pessoa, PB 58051-900, Brazil, Department of Biology, Paraiba State University (UEPB), Campina Grande, PB 58429-500, Brazil.

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http://dx.doi.org/10.1093/hmg/ddv388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296331PMC
December 2015

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

Hum Mutat 2015 Nov 3;36(11):1029-33. Epub 2015 Aug 3.

Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil.

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http://dx.doi.org/10.1002/humu.22827DOI Listing
November 2015

Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype.

Cell 2015 Nov 12;163(5):1204-1213. Epub 2015 Nov 12.

Human Genome and Stem Cell Center, Biosciences Institute, University of São Paulo, São Paulo 05508-090, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2015.10.049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4668935PMC
November 2015

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

J Med Genet 2015 Jun 20;52(6):413-21. Epub 2015 Mar 20.

Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Instituto de Biociências da Universidade de São Paulo, São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1136/jmedgenet-2015-103018DOI Listing
June 2015

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 7;167A(5):1039-46. Epub 2015 Feb 7.

Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil.

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http://genoma.ib.usp.br/sites/default/files/publicacoes/carv
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http://doi.wiley.com/10.1002/ajmg.a.36789
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http://dx.doi.org/10.1002/ajmg.a.36789DOI Listing
May 2015

Response to: Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin.

Authors:
Mayana Zatz

Neuromuscul Disord 2015 May 23;25(5):444. Epub 2015 Feb 23.

Human Genome Research Center, Institute of Genetics and Evolutionary Biology, University of São Paulo, Rua do Matao, 277, Cidade Universitária, São Paulo CEP 05508-900, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.02.010DOI Listing
May 2015

Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype.

Neuromuscul Disord 2015 May 3;25(5):363-70. Epub 2015 Mar 3.

Department of Pathology, School of Medicine, University of California San Diego, La Jolla, CA 92093. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.02.012DOI Listing
May 2015

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Endocr Relat Cancer 2015 Feb 25;22(1):65-76. Epub 2014 Nov 25.

Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das ClínicasUniversity of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, BrazilNursing SchoolSchool of Public HealthHuman Genome Research CenterUniversity of São Paulo, São Paulo, São Paulo, BrazilDivision of GeneticsGenetic Bases of Thyroid Tumors Laboratory, Department of Morphology and GeneticsDivision of EndocrinologyLaboratory of Molecular and Translational Endocrinology, Department of Medicine, Federal University of São Paulo, São Paulo, São Paulo, BrazilBrazilian National Laboratory of BiosciencesCampinas, São Paulo, BrazilCentro Integral Oncológico Clara CampalHospital Universitário Sanchinarro, Madrid, SpainDepartment of GeneticsTexas Biomedical Research Institute, AT&T Genomic Computing Center, San Antonio, Texas, USAEndocrinology DivisionSanta Casa Hospital, São Paulo, São Paulo, BrazilLaboratory of Epidemiology and Population SciencesNational Institute on Aging, Bethesda, Maryland, USA Endocrine Genetics Unit (Laboratório de Investigação Médica/LIM-25) of Hospital das ClínicasUniversity of São Paulo School of Medicine, São Paulo, São Paulo 05403-010, BrazilNursing SchoolSchool of Public HealthHuman Genome Research CenterUniversity of São Paulo, São Paulo, São Paulo, BrazilDivision of GeneticsGenetic Bases of Thyroid Tumors Laboratory, Department of Morphology and GeneticsDivision of EndocrinologyLaboratory of Molecular and Translational Endocrinology, Department of Medicine, Federal University of São Paulo, São Paulo, São Paulo, BrazilBrazilian National Laboratory of BiosciencesCampinas, São Paulo, BrazilCentro Integral Oncológico Clara CampalHospital Universitário Sanchinarro, Madrid, SpainDepartment of GeneticsTexas Biomedical Research Institute, AT&T Genomic Computing Center, San Antonio, Texas, USAEndocrinology DivisionSanta Casa Hospital, São Paulo, São Paulo, BrazilLaboratory of Epidemiology and Population SciencesNat

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http://dx.doi.org/10.1530/ERC-14-0491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289937PMC
February 2015

Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.

J Med Genet 2015 Feb 19;52(2):123-7. Epub 2014 Dec 19.

Northeast Biotechnology Network (RENORBIO), Federal University of Paraiba (UFPB), Joao Pessoa, PB, Brazil Department of Biology, Paraiba State University (UEPB), Campina Grande, PB, Brazil.

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http://dx.doi.org/10.1136/jmedgenet-2014-102793DOI Listing
February 2015

Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations.

Eur J Endocrinol 2014 Sep 11;171(3):335-42. Epub 2014 Jun 11.

Endocrine Genetics Unit (Laboratorio de Investigacao Medica/LIM-25)Neuroendocrinology UnitNeuroendocrinology-Neurosurgery UnitAdrenal Unit (LIM-42)General Endocrinology UnitExperimental Oncology Laboratory (LIM-24)Department of PathologyNursing SchoolSchool of Public Health of Hospital das ClínicasUniversity of Sao Paulo School of Medicine, Sao Paulo, BrazilBrigadeiro HospitalSao Paulo, BrazilHuman Genome Research CenterUniversity of Sao Paulo, Sao Paulo, BrazilInstituto do CérebroInstituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, BrazilNational Institute of AgingNational Institutes of Health (NIH), Bethesda, Maryland, USAInstitute of PathologyHelmholtz Zentrum München, Neuherberg, GermanyInstitute of Biomedical SciencesUniversity of Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyFederal University of Sao Paulo (UNIFESP), Sao Paulo, Brazil

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http://dx.doi.org/10.1530/EJE-14-0130DOI Listing
September 2014

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.

BMC Res Notes 2014 Aug 1;7:487. Epub 2014 Aug 1.

Laboratory of Muscle Proteins and Comparative Histopathology, Human Genome Research Center, Biosciences Institute, University of São Paulo, R, do Matão, 106 - Cidade Universitária, São Paulo, SP CEP 05508-900, Brazil.

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http://bmcresnotes.biomedcentral.com/articles/10.1186/1756-0
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http://dx.doi.org/10.1186/1756-0500-7-487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124474PMC
August 2014

p27 variant and corticotropinoma susceptibility: a genetic and in vitro study.

Endocr Relat Cancer 2014 06 28;21(3):395-404. Epub 2014 Apr 28.

Endocrine Genetics Unit LIM-25 Neuroendocrinology Unit Adrenal Unit (LIM-42) Experimental Oncology Laboratory (LIM-24), School of Medicine, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil Nursing School School of Public Health, University of Sao Paulo, Sao Paulo, Brazil Endocrinology Division, Santa Casa Hospital, Sao Paulo, Brazil Brigadeiro Hospital, Sao Paulo, Brazil Federal University of Sao Paulo, Sao Paulo, Brazil Human Genome Research Center Department of Cell and Developmental Biology, Institute of Biomedical Sciences, University of São Paulo, Sao Paulo, Brazil Instituto do Cérebro, Instituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, Brazil National Institute of Aging, National Institutes of Health (NIH), Bethesda, Maryland, USA Institute of Pathology, Helmholtz Zentrum München, Neuherberg, Germany.

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http://dx.doi.org/10.1530/ERC-13-0486DOI Listing
June 2014

Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome.

Muscle Nerve 2014 Jan 25;49(1):131-3. Epub 2013 Oct 25.

Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil.

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http://dx.doi.org/10.1002/mus.24087DOI Listing
January 2014

Steroids in Duchenne dystrophy.

Neuromuscul Disord 2013 Nov 13;23(11):952-3. Epub 2013 Aug 13.

Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2013.07.013DOI Listing
November 2013

Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals.

Neuromolecular Med 2012 Dec 16;14(4):281-4. Epub 2012 Jun 16.

Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Universidade de São Paulo, Rua do Matão, 106, Cidade Universitária, São Paulo, SP, 05508-090, Brazil.

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http://dx.doi.org/10.1007/s12017-012-8186-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505535PMC
December 2012

Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.

Muscle Nerve 2012 Feb;45(2):279-83

Centro de Estudos do Genoma Humano-IB-USP, Biosciences Institute, University of São Paulo, R. do Matão, 277, Sala 220, CEP 05508-900 São Paulo, Brazil.

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http://dx.doi.org/10.1002/mus.22252DOI Listing
February 2012

A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems.

BMC Genomics 2011 Dec 22;12 Suppl 4:S13. Epub 2011 Dec 22.

EACH - School of Arts, Sciences and Humanities, University of São Paulo, Rua Arlindo Béttio, 1000, Ermelino Matarazzo, São Paulo, Brazil.

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http://dx.doi.org/10.1186/1471-2164-12-S4-S13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287582PMC
December 2011

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients.

Hum Mol Genet 2011 Sep 17;20(18):3642-52. Epub 2011 Jun 17.

University of California San Diego, School of Medicine, Department of Pediatrics/Rady Children’s Hospital San Diego, Department of Cellular & Molecular Medicine, Stem Cell Program, 9500 Gilman Dr, La Jolla, CA 92093, MC 0695, USA.

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http://dx.doi.org/10.1093/hmg/ddr284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159551PMC
September 2011

Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease).

J Mol Neurosci 2011 Mar 14;43(3):333-6. Epub 2010 Sep 14.

Keizo Asami Laboratory (LIKA), Federal University of Pernambuco, Recife, Pernambuco, Brazil.

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http://dx.doi.org/10.1007/s12031-010-9445-7DOI Listing
March 2011

Mesenchymal stem cells derived from canine umbilical cord vein--a novel source for cell therapy studies.

Stem Cells Dev 2010 Mar;19(3):395-402

Human Genome Research Center, Department of Genetic and Evolutive Biology, University of São Paulo, São Paulo, Brazil.

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https://www.liebertpub.com/doi/10.1089/scd.2008.0314
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http://dx.doi.org/10.1089/scd.2008.0314DOI Listing
March 2010

Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN).

Arq Neuropsiquiatr 2010 Feb;68(1):3-6

Department of Neurology, University of São Paulo School of Medicine, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2010000100002DOI Listing
February 2010

Ringo: discordance between the molecular and clinical manifestation in a golden retriever muscular dystrophy dog.

Neuromuscul Disord 2010 Jan 26;20(1):64-70. Epub 2009 Nov 26.

Human Genome Research Center, Department of Genetic and Evolutive Biology, University of São Paulo, São Paulo, SP, Brazil.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660900664
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http://dx.doi.org/10.1016/j.nmd.2009.10.011DOI Listing
January 2010

Phenotypes in golden retriever.

Neuromuscul Disord 2010 Jan 1;20(1):71. Epub 2009 Dec 1.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966090068
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http://dx.doi.org/10.1016/j.nmd.2009.11.002DOI Listing
January 2010

Gene expression profile of mesenchymal stem cells from paired umbilical cord units: cord is different from blood.

Stem Cell Rev Rep 2009 Dec;5(4):387-401

Human Genome Research Center, Department of Genetic and Evolutive Biology, University of São Paulo, 106 - Cidade Universitária, 05508-090 São Paulo, SP, Brazil.

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http://link.springer.com/10.1007/s12015-009-9098-5
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http://dx.doi.org/10.1007/s12015-009-9098-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2803263PMC
December 2009

Stem cell researches in Brazil: present and future challenges.

Authors:
Mayana Zatz

Stem Cell Rev Rep 2009 Jun 19;5(2):123-9. Epub 2009 Feb 19.

Human Genome Research Center, Biosciences Institute, University of São Paulo, Rua do Matão 277, Cidade Universitária, caixa Postal 05508-090 São Paulo, Brazil.

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http://dx.doi.org/10.1007/s12015-009-9057-1DOI Listing
June 2009

Human fallopian tube: a new source of multipotent adult mesenchymal stem cells discarded in surgical procedures.

J Transl Med 2009 Jun 18;7:46. Epub 2009 Jun 18.

Human Genome Research Center, Biosciences Institute, University of São Paulo, n degrees 106, Cidade Universitária São Paulo SP, CEP: 05508-090, Brazil.

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http://dx.doi.org/10.1186/1479-5876-7-46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714040PMC
June 2009

Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.

Proc Natl Acad Sci U S A 2009 Apr 1;106(15):6220-5. Epub 2009 Apr 1.

Human Genome Research Center, Department of Genetics and Evolutive Biology, Institute of Biosciences, University of São Paulo, 05508-090, São Paulo, Brazil.

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http://www.pnas.org/cgi/doi/10.1073/pnas.0901573106
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http://dx.doi.org/10.1073/pnas.0901573106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664154PMC
April 2009

Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene.

J Histochem Cytochem 2008 Nov 21;56(11):995-1001. Epub 2008 Jul 21.

Human Genome Research Center, Biosciences Institute, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1369/jhc.2008.951772DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2569900PMC
November 2008

Stem cell proliferation under low intensity laser irradiation: a preliminary study.

Lasers Surg Med 2008 Aug;40(6):433-8

Hospital Israelita Albert Einstein, Unit of Bone Marrow Transplantation, São Paulo 05651-901, SP, Brazil.

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http://dx.doi.org/10.1002/lsm.20646DOI Listing
August 2008

Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques.

Neuropathology 2008 Jun 20;28(3):264-8. Epub 2007 Nov 20.

Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.

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http://dx.doi.org/10.1111/j.1440-1789.2007.00871.xDOI Listing
June 2008

Human multipotent adipose-derived stem cells restore dystrophin expression of Duchenne skeletal-muscle cells in vitro.

Biol Cell 2008 Apr;100(4):231-41

Human Genome Research Center, Biosciences Institute, University of São Paulo, Rua do Matão, CEP 05508-090, n.106 Cidade Universitária, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1042/BC20070102DOI Listing
April 2008

Multipotent stem cells from umbilical cord: cord is richer than blood!

Stem Cells 2008 Jan 11;26(1):146-50. Epub 2007 Oct 11.

Human Genome Research Center, Department of Genetic and Evolutive Biology, University of São Paulo, Rua do Matão, n. 106, Cidade Universitária, São Paulo, SP, CEP 05508-090, Brazil.

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http://doi.wiley.com/10.1634/stemcells.2007-0381
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http://dx.doi.org/10.1634/stemcells.2007-0381DOI Listing
January 2008

Mesenchymal stem cells from umbilical cord: do not discard the cord!

Neuromuscul Disord 2008 Jan 21;18(1):17-8. Epub 2007 Dec 21.

Human Genome Research Center, Department of Genetic and Evolutive Biology, University of São Paulo, São Paulo, SP, Brazil.

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http://genoma.w20.com.br/sites/default/files/publicacoes/mes
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http://linkinghub.elsevier.com/retrieve/pii/S096089660700763
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http://dx.doi.org/10.1016/j.nmd.2007.11.003DOI Listing
January 2008

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.

Eur J Hum Genet 2007 Dec 26;15(12):1276-9. Epub 2007 Sep 26.

Departamento de Genética e Biologia Evolutiva, Human Genome Research Center, Bioscience Institute, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1038/sj.ejhg.5201924DOI Listing
December 2007

Red-green color vision impairment in Duchenne muscular dystrophy.

Am J Hum Genet 2007 Jun 13;80(6):1064-75. Epub 2007 Apr 13.

Departamento Psicologia Experimental, Universidade de Sao Paulo, Sao Paulo, Brazil.

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http://dx.doi.org/10.1086/518127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867095PMC
June 2007

Central core disease due to recessive mutations in RYR1 gene: is it more common than described?

Muscle Nerve 2007 May;35(5):670-4

Department of Genetics, Human Genome Research Center, IB-USP, R. do Matão, 106, São Paulo, SP-CEP 05508-900, Brazil.

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http://dx.doi.org/10.1002/mus.20715DOI Listing
May 2007

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

Human Genome Research Center, Department of Genetics and Evolutionary Biology, University of Sao Paulo, Sao Paulo, SP, Brazil.

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http://dx.doi.org/10.1042/BC20060075DOI Listing
April 2007

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 30;85(4):415-20. Epub 2007 Jan 30.

Departamento de Biologia, Centro de Estudos do Genoma Humano, IB, USP, Rua do Matão, 106, 05508-900, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1007/s00109-007-0163-8DOI Listing
April 2007

Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations.

Diagn Mol Pathol 2006 Jun;15(2):95-100

Human Genome Research Center, Department of Biology, IBUSP, São Paulo, Brazil.

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June 2006

Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy.

Hum Genet 2006 Mar 8;119(1-2):23-8. Epub 2005 Dec 8.

Departamento de Biologia, Human Genome Research Center, Universidade de São Paulo, Rua do Matão, 277 Cidade Universitária, CEP: 05508-090, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1007/s00439-005-0100-2DOI Listing
March 2006

Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer's disease?

J Mol Neurosci 2005 ;27(2):213-7

Human Genome Research Center, Biology Department, Institute of Biosciences, São Paulo University (IBUSP), São Paulo, Brazil.

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http://dx.doi.org/10.1385/JMN:27:2:213DOI Listing
December 2005

A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population.

Hum Genet 2005 Dec 27;118(3-4):499-500. Epub 2005 Sep 27.

Human Genome Research Center, Biosciences Institute, University of São Paulo, Rua do Matão, 277, sala 211, Cidade Universitària, São Paulo, Brazil, CEP 05508-090.

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http://dx.doi.org/10.1007/s00439-005-0031-yDOI Listing
December 2005

Calpains and disease.

N Engl J Med 2005 Jun;352(23):2413-23

Human Genome Research Center, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1056/NEJMra043361DOI Listing
June 2005