Mayana Zatz

Centro de Estudos sobre o Genoma Humano e Células-Tronco, Universidade de São Paulo

Affiliated withUniversidade de São Paulo

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title	2024

Other Publications

Article	Year
Clinical variability in calpainopathy: what makes the difference? European journal of human genetics : EJHG\| PubMed ID: 12461690	2002
Immunological methods for the analysis of protein expression in neuromuscular diseases. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 12491947	2003
The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscular disorders : NMD\| PubMed ID: 12921790	2003
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. European journal of human genetics : EJHG\| PubMed ID: 14647208	2003
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. American journal of human genetics\| PubMed ID: 15372378	2004
[Myotonic dystrophy and heart disease: behavior of arrhythmic events and conduction disturbances]. Arquivos brasileiros de cardiologia\| PubMed ID: 15880208	2005
Calpains and disease. The New England journal of medicine\| PubMed ID: 15944426	2005
Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy. Human genetics\| PubMed ID: 16341710	2006
Red-green color vision impairment in Duchenne muscular dystrophy. American journal of human genetics\| PubMed ID: 17503325	2007
Early transplantation of human immature dental pulp stem cells from baby teeth to golden retriever muscular dystrophy (GRMD) dogs: Local or systemic? Journal of translational medicine\| PubMed ID: 18598348	2008
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 19339494	2009
Gene expression profile of mesenchymal stem cells from paired umbilical cord units: cord is different from blood. Stem cell reviews and reports\| PubMed ID: 20058202	2009
Contamination of mesenchymal stem-cells with fibroblasts accelerates neurodegeneration in an experimental model of Parkinson's disease. Stem cell reviews and reports\| PubMed ID: 21503590	2011
Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals. Neuromolecular medicine\| PubMed ID: 22707356	2012
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. American journal of medical genetics. Part A\| PubMed ID: 25663181	2015
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Journal of medical genetics\| PubMed ID: 25795793	2015
Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate. Human mutation\| PubMed ID: 26123647	2015
Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell\| PubMed ID: 26582133	2015
Dystrophin Is Required for Proper Functioning of Luminance and Red-Green Cone Opponent Mechanisms in the Human Retina. Investigative ophthalmology & visual science\| PubMed ID: 27388051	2016
Neuromuscular disorders: genes, genetic counseling and therapeutic trials. Genetics and molecular biology\| PubMed ID: 27575431	2016
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. American journal of medical genetics. Part A\| PubMed ID: 28328130	2017
Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 28533404	2017
Down Syndrome iPSC-Derived Astrocytes Impair Neuronal Synaptogenesis and the mTOR Pathway In Vitro. Molecular neurobiology\| PubMed ID: 29128905	2018
Immunoglobulin therapy ameliorates the phenotype and increases lifespan in the severely affected dystrophin-utrophin double knockout mice. European journal of human genetics : EJHG\| PubMed ID: 29255177	2017
Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells. Nature communications\| PubMed ID: 29396410	2018
Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells. Nature communications\| PubMed ID: 29535311	2018
Zika Virus Selectively Kills Aggressive Human Embryonal CNS Tumor Cells and . Cancer research\| PubMed ID: 29700002	2018
Complexity of the 5' Untranslated Region of , a Critical Factor for Craniofacial and Neural Development. Frontiers in genetics\| PubMed ID: 29922329	2018
A fast method to reprogram and CRISPR/Cas9 gene editing from erythroblasts. Stem cell research\| PubMed ID: 30015173	2018
Development of a comprehensive noninvasive prenatal test. Genetics and molecular biology\| PubMed ID: 30043834	2018
Helping our country as women scientists. Nature cell biology\| PubMed ID: 30154566	2018
Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG. Orphanet journal of rare diseases\| PubMed ID: 30616629	2019
A population-based study of inter-generational attitudes towards consanguineous marriages in north-eastern Brazil. Journal of biosocial science\| PubMed ID: 30862325	2019
The Role of Pericytes in Amyotrophic Lateral Sclerosis. Advances in experimental medicine and biology\| PubMed ID: 31147876	2019
Adult and iPS-derived non-parenchymal cells regulate liver organoid development through differential modulation of Wnt and TGF-β. Stem cell research & therapy\| PubMed ID: 31416480	2019
Quantitative evaluation of brain volume among elderly individuals in São Paulo, Brazil: a population-based study. Radiologia brasileira\| PubMed ID: 31656345	2019
Safety, Tumor Reduction, and Clinical Impact of Zika Virus Injection in Dogs with Advanced-Stage Brain Tumors. Molecular therapy : the journal of the American Society of Gene Therapy\| PubMed ID: 32220305	2020
Variants in the Kisspeptin-GnRH Pathway Modulate the Hormonal Profile and Reproductive Outcomes. DNA and cell biology\| PubMed ID: 32352843	2020
Structural variation of the malaria-associated human glycophorin A-B-E region. BMC genomics\| PubMed ID: 32600246	2020
Differential gene expression elicited by ZIKV infection in trophoblasts from congenital Zika syndrome discordant twins. PLoS neglected tropical diseases\| PubMed ID: 32745093	2020
Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis. Molecular psychiatry\| PubMed ID: 32839513	2021
Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer. Breast cancer (Tokyo, Japan)\| PubMed ID: 32986223	2021
Random changepoint segmented regression with smooth transition. Statistical methods in medical research\| PubMed ID: 33146585	2021
Reply to "Questioning the Use of Zika Virus Injection in Dogs with Advanced-Stage Brain Tumors". Molecular therapy : the journal of the American Society of Gene Therapy\| PubMed ID: 33321096	2021
Phenotypic heterogeneity in amyotrophic lateral sclerosis type 8 and modifying mechanisms of neurodegeneration. Neural regeneration research\| PubMed ID: 33510073	2021
Pre-coating decellularized liver with HepG2-conditioned medium improves hepatic recellularization. Materials science & engineering. C, Materials for biological applications\| PubMed ID: 33579511	2021
Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes. International journal of obesity (2005)\| PubMed ID: 33633342	2021
Extreme phenotypes approach to investigate host genetics and COVID-19 outcomes. Genetics and molecular biology\| PubMed ID: 33651876	2021
Socioeconomic Factors and Health Status Disparities Associated with Difficulty in ADLs and IADLs among Long-Lived Populations in Brazil: A Cross-Sectional Study. Inquiry : a journal of medical care organization, provision and financing\| PubMed ID: 33834861	2021
Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals. American journal of medical genetics. Part C, Seminars in medical genetics\| PubMed ID: 34189818	2021
Soluble factors of mesenchimal stem cells (FS-MSC) as a potential tool to reduce inflammation in donor's lungs after hypovolemic shock. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia\| PubMed ID: 34378644	2021
A Novel Saliva RT-LAMP Workflow for Rapid Identification of COVID-19 Cases and Restraining Viral Spread. Diagnostics (Basel, Switzerland)\| PubMed ID: 34441334	2021
MHC Variants Associated With Symptomatic Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals. Frontiers in immunology\| PubMed ID: 34650566	2021
Effect of Serial Systemic and Intratumoral Injections of Oncolytic ZIKV in Mice Bearing Embryonal CNS Tumors. Viruses\| PubMed ID: 34696533	2021
HLA-G genetic diversity and evolutive aspects in worldwide populations. Scientific reports\| PubMed ID: 34845256	2021
Recurrence of COVID-19 associated with reduced T-cell responses in a monozygotic twin pair. Open biology\| PubMed ID: 35104433	2022
Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil. Genetics and molecular biology\| PubMed ID: 35112701	2022
The 90 plus: longevity and COVID-19 survival. Molecular psychiatry\| PubMed ID: 35136227	2022
Psychosocial aspects and support networks associated with disability in two longevous populations in Brazil: a cross-sectional study. BMC geriatrics\| PubMed ID: 35139805	2022
MS-Driven Metabolic Alterations Are Recapitulated in iPSC-Derived Astrocytes. Annals of neurology\| PubMed ID: 35226368	2022
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil. Nature communications\| PubMed ID: 35246524	2022
Health-Related Quality of Life and Associated Factors: Regional Differences Among Oldest-Old in Brazil. Inquiry : a journal of medical care organization, provision and financing\| PubMed ID: 35341376	2022
Author Correction: Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil. Nature communications\| PubMed ID: 35354829	2022
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization. International journal of molecular sciences\| PubMed ID: 36233295	2022
Follow-up of young adult monozygotic twins after simultaneous critical coronavirus disease 2019: A case report. Frontiers in medicine\| PubMed ID: 36250103	2022
The oldest unvaccinated Covid-19 survivors in South America. Immunity & ageing : I & A\| PubMed ID: 36384671	2022
MUC22, HLA-A, and HLA-DOB variants and COVID-19 in resilient super-agers from Brazil. Frontiers in immunology\| PubMed ID: 36389712	2022
Regional differences regarding the occurrence of falls and associated factors in two populations of Brazilian longevous people. BMC geriatrics\| PubMed ID: 36460961	2022
Correction: The oldest unvaccinated Covid-19 survivors in South America. Immunity & ageing : I & A\| PubMed ID: 36476248	2022
Amyotrophic Lateral Sclerosis, FUS and Protein Synthesis Defects. Stem cell reviews and reports\| PubMed ID: 36515764	2023
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective. International journal for equity in health\| PubMed ID: 36639662	2023
Immunological evaluation of young unvaccinated patients with Turner syndrome after COVID-19. International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases\| PubMed ID: 36758851	2023
Immunogenetics of HLA-B: SNP, allele, and haplotype diversity in populations from different continents and ancestry backgrounds. HLA\| PubMed ID: 37005006	2023
Corrigendum: Follow-up of young adult monozygotic twins after simultaneous critical coronavirus disease 2019: a case report. Frontiers in medicine\| PubMed ID: 37188090	2023
IFNγ protects motor neurons from oxidative stress via enhanced global protein synthesis in FUS-associated amyotrophic lateral sclerosis. Brain pathology (Zurich, Switzerland)\| PubMed ID: 37582053	2024
Dystrophin genetic variants and autism. Discover mental health\| PubMed ID: 37861890	2022
ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons. Neurobiology of disease\| PubMed ID: 38806131	2024
Anti-RBD IgG antibodies from endemic coronaviruses do not protect against the acquisition of SARS-CoV-2 infection among exposed uninfected individuals. Frontiers in immunology\| PubMed ID: 38846944	2024
Neuropathological Lesions and Cognitive Abilities in Black and White Older Adults in Brazil. JAMA network open\| PubMed ID: 39052291	2024
Immunocompetent Brain Organoids with Microglia Allow Advanced Aging Research. Methods in molecular biology (Clifton, N.J.)\| PubMed ID: 39316336	2024