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List of works by Ursula Matte

"Comfort-foods" chronic intake has different behavioral and neurobiological effects in male rats exposed or not to early-life stress

scientific article published on 06 June 2019

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.

scientific article published on 27 February 2014

A simple protocol for transfecting human mesenchymal stem cells

scientific article published on 17 January 2018

A snapshot of gene therapy in Latin America

scientific article

Acid and Weakly Acidic Gastroesophageal Reflux and Pepsin Isoforms (A and C) in Tracheal Secretions of Critically Ill Children

scientific article published in August 2015

Adult derived mononuclear bone marrow cells improve survival in a model of acetaminophen-induced acute liver failure in rats

scientific article published in February 2008

Alginate-embedded HuH-7 cells increase MMP-9 and reduce OCLN expression in vitro

scientific article published on 04 January 2017

Alpha-mannosidase activity in goats fed with Sida carpinifolia.

scientific article published on 9 May 2009

Amplification of bacterial DNA does not distinguish patients with ascitic fluid infection from those colonized by bacteria

scientific article published on 01 May 2007

An analysis of the global expression of microRNAs in an experimental model of physiological left ventricular hypertrophy

scientific article

Analysis of Polymorphism rs1042522 in TP53 Gene in the Mothers of Twins and of Singletons: A Population-Based Study in Rio Grande do Sul, Brazil

scientific article published on 9 February 2017

Analysis of cDNA molecules is not suitable for the molecular diagnosis of Mucopolysaccharidosis type I.

scientific article published in March 2012

Analysis of gene mutations in children with cholestasis of undefined etiology

scientific article published on October 2010

Analysis of the Cancer Genome Atlas Data Reveals Novel Putative ncRNAs Targets in Hepatocellular Carcinoma

scientific article published on 26 June 2018

Angiopoietin 1 and angiopoietin 2 are associated with medial thickening of hepatic arterial branches in biliary atresia.

scientific article

Associations of birth mode with cord blood cytokines, white blood cells, and newborn intestinal bifidobacteria

scientific article published in PLoS ONE

BMP-6 and SMAD4 gene expression are altered in the cumulus cells from women with endometriosis-associated infertility

scientific article published on 10 June 2020

Birth mode-dependent association between pre-pregnancy maternal weight status and the neonatal intestinal microbiome

scientific article

Bone marrow derived cells decrease inflammation but not oxidative stress in an experimental model of acute myocardial infarction.

scientific article

Bone marrow mesenchymal stromal cell uptake extracellular vesicles from carbon tetrachloride-injured hepatocytes without differentiating into hepatocyte-like cells in a short period

scientific article published on 30 April 2018

Bone marrow mononuclear cell transplantation improves survival and induces hepatocyte proliferation in rats after CCl(4) acute liver damage

scientific article

CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy

scientific article

CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts

scientific article published on 03 August 2018

CRISPR/Cas9-directed genome editing of human MPS I fibroblasts

Cardiac pathology in Mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodeling

scientific article published on 04 November 2020

Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice

scientific article published on 20 January 2018

Cationic Nanoemulsions as a Gene Delivery System: Proof of Concept in the Mucopolysaccharidosis I Murine Model

scientific article published on January 2015

Cationic nanoemulsions as nucleic acids delivery systems

scientific article published on 13 October 2017

Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases ⬇️

scientific article published on May 26, 2011

Cellular response to chemicals present in air pollution in occupationally exposed workers and its potential cancer susceptibility

scientific article published on 15 August 2020

Characterization of joint disease in mucopolysaccharidosis type I mice

scientific article published on 21 June 2013

Chloramphenicol Enhances IDUA Activity on Fibroblasts from Mucopolysaccharidosis I Patients ⬇️

scientific article published on January 1, 2013

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach

scientific article

Cloramphenicol: A pharmacological chaperone?

scholarly article by Roberto Giugliani et al published February 2012 in Molecular Genetics and Metabolism

Coagulase-negative Staphylococcus sp. in blood cultures from infants less than 60 days old: infection versus contamination

scientific article published in May 1997

Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I"

article

Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53.

scientific article published on 03 June 2016

Concerning to Schirinzi et al., Natural history of a cohort of ABCD1 variant female carriers

scientific article published on 09 May 2019

Correlation between lactose absorption and the C/T-13910 and G/A-22018 mutations of the lactase-phlorizin hydrolase (LCT) gene in adult-type hypolactasia

scientific article

Costs of genetic testing: Supporting Brazilian Public Policies for the incorporating of molecular diagnostic technologies

scientific article

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders.

scientific article

Cytotoxic effect of amphotericin B in a myofibroblast cell line

scientific article published on 27 August 2013

DNMT3AMutations in Patients with Acute Myeloid Leukemia in South Brazil ⬇️

scientific article published on November 8, 2012

Deleterious effects of interruption followed by reintroduction of enzyme replacement therapy on a lysosomal storage disorder

scientific article published on 5 July 2016

Delivery Mode and the Transition of Pioneering Gut-Microbiota Structure, Composition and Predicted Metabolic Function.

scientific article published on 4 December 2017

Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases

scientific article published on 01 July 2019

Dopamine receptor D2 genotype (3438) is associated with moderate/severe endometriosis in infertile women in Brazil ⬇️

scientific article published on December 20, 2012

Draft genome sequence of a GES-5-producing Serratia marcescens isolated in southern Brazil

scientific article

ELAG - 10 Successful Years

scientific article published on March 2014

Early use of cardiac troponin-I and echocardiography imaging for prediction of myocardial infarction size in Wistar rats.

scientific article published on 11 June 2013

Effect of Vitamin D Serum Levels and GC Gene Polymorphisms in Liver Fibrosis Due to Chronic Hepatitis C.

scientific article

Effects of FTO RS9939906 and MC4R RS17782313 on obesity, type 2 diabetes mellitus and blood pressure in patients with hypertension

scientific article published on 12 July 2013

Effects of cryopreservation and hypothermic storage on cell viability and enzyme activity in recombinant encapsulated cells overexpressing alpha-L-iduronidase.

scientific article published on May 2010

Effects of enzyme replacement therapy started late in a murine model of mucopolysaccharidosis type I

scientific article (publication date: 2015)

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases

scientific article published on 23 May 2019

Emerging drugs for the treatment of mucopolysaccharidoses.

scientific article

Encapsulated Whole Bone Marrow Cells Improve Survival in Wistar Rats after 90% Partial Hepatectomy

scientific article

Encapsulated platelets modulate kupffer cell activation and reduce oxidative stress in a model of acute liver failure

scientific article published on 10 August 2016

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations

scientific article

Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice

scientific article published on 16 March 2013

Erratum to “DNMT3A Mutations in Patients with Acute Myeloid Leukemia in South Brazil”.

scientific article published on 8 January 2014

Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

scientific article published on July 2015

Estimated birth prevalence of mucopolysaccharidoses in Brazil

scientific article published on 11 January 2020

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

scientific article published on 18 November 2020

Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm

scientific article published on 29 May 2015

Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice

scientific article published on 04 July 2020

Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice

scientific article

Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report

scientific article published on 01 January 2008

Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients

scientific article published on 26 September 2014

Fabry disease: a new approach for the screening of females in high-risk groups.

scientific article published on 25 February 2014

Factors influencing transfection efficiency of pIDUA/nanoemulsion complexes in a mucopolysaccharidosis type I murine model.

scientific article published on 15 March 2017

Fantastic databases and where to find them: Web applications for researchers in a rush

scientific article published on 2 April 2021

Fc Gamma Receptor IIA (CD32A) R131 Polymorphism as a Marker of Genetic Susceptibility to Sepsis

scientific article published on 21 October 2015

Frequent polymorphisms of FSH receptor do not influence antral follicle responsiveness to follicle-stimulating hormone administration as assessed by the Follicular Output RaTe (FORT) ⬇️

scientific article published on April 14, 2012

Freshly isolated hepatocyte transplantation in acetaminophen-induced hepatotoxicity model in rats ⬇️

scientific article published on December 1, 2012

Further cases of “neighbor” mutations in mucopolysaccharidosis type II

scientific article published on 01 August 2006

Gene delivery strategies for the treatment of mucopolysaccharidoses

scientific article published on 23 January 2014

Gene editing of MPS I human fibroblasts by co-delivery of a CRISPR/Cas9 plasmid and a donor oligonucleotide using nanoemulsions as nonviral carriers.

scientific article published on 6 November 2017

Genetic diagnosis in recently transfused patients

scientific article published in June 2013

Genetic profile of Brazilian patients with dystrophinopathies.

scientific article published on 24 January 2017

Genetic variants linked to folliculogenesis and successful pregnancy are not associated with twin births in a twins' town

scientific article published on 07 March 2019

Genetic variants underlying vitamin D metabolism and VDR-TGFβ-1-SMAD3 interaction may impact on HCV progression: a study based on dbGaP data from the HALT-C study

scientific article published on 13 July 2017

Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

scientific article published on 4 June 2015

Genomic analysis of Brazilian patients with Fabry disease

scientific article published on 29 October 2007

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis

scientific article published on 06 October 2012

Germinative testicular cells and bone marrow mononuclear cells transplanted to a rat model of testicular degeneration

scientific article

Glycosidase active site mutations in human alpha-L-iduronidase.

scientific article published on September 2001

Guidelines for the management of mucopolysaccharidosis type I.

scientific article published on October 2009

Hearing Impairment in Mucopolysaccharidosis: A Systems Biology Approach

scientific article published in January 2022

High twinning rate in Candido Godoi: a new role for p53 in human fertility

scientific article published on 26 June 2012

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients

scientific article published in January 2003

Identification of mutations in Colombian patients affected with Fabry disease.

scientific article published on 18 August 2015

Immunolocalization of VEGF A and its receptors, VEGFR1 and VEGFR2, in the liver from patients with biliary atresia.

scientific article

Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease

scientific article published on 27 July 2006

In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells

scientific article published on 17 September 2008

In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system

scientific article published on 28 August 2018

Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I.

scientific article

Infected and noninfected ascites in pediatric patients

scientific article published on March 2005

Influence of phospholipid composition on cationic emulsions/DNA complexes: physicochemical properties, cytotoxicity, and transfection on Hep G2 cells ⬇️

scientific article published on October 7, 2011

Injured hepatocyte-released microvesicles induce bone marrow-derived mononuclear cells differentiation

scientific article

Intestinal permeability assessed by 51Cr-EDTA in rats with CCl4 - induced cirrhosis

scientific article published on April 2010

Intra-articular nonviral gene therapy in mucopolysaccharidosis I mice

scientific article published on 27 June 2018

Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice

scientific article published on 3 April 2012

Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience.

scientific article published in January 2009

LH (Trp8Arg/Ile15Thr), LHR (insLQ) and FSHR (Asn680Ser) polymorphisms genotypic prevalence in women with endometriosis and infertility.

scientific article published on 3 May 2015

Lack of association between genetic polymorphisms in IGF1 and IGFBP3 with twin births in a Brazilian population (Cândido Godói, Rio Grande do Sul).

scientific article published in October 2018

Laronidase-functionalized multiple-wall lipid-core nanocapsules: promising formulation for a more effective treatment of mucopolysaccharidosis type I.

scientific article

Lessons from molecular modeling human α-L-iduronidase.

scientific article published on 18 October 2014

Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I.

scientific article published on 3 February 2017

Lysosomal enzymes may cross the blood-brain-barrier by pinocytosis: implications for enzyme replacement therapy

scientific article published on 5 February 2014

Lysosome

scientific article

MPS I and MPS II: Minimal estimated incidence in Brazil and comparison to the rest of the world

article

Machine Learning Supports Long Noncoding RNAs as Expression Markers for Endometrial Carcinoma

scientific article published on 10 January 2020

MicroRNA and gene expression studies provide novel information to understand heart disease in women with Fabry disease

article

Molecular analysis of thePi*Z allele in patients with liver disease

scientific article published on 01 December 2001

Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene

scientific article

Mucopolysaccharidosis Type I

scientific article published on 16 March 2020

Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy

scientific article

N-acetylcysteine improves antitumoural response of Interferon alpha by NF-kB downregulation in liver cancer cells ⬇️

scientific article published on December 4, 2012

Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy

scientific article published on 26 September 2018

Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice

scientific article published on 11 December 2019

Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.

scientific article published on 13 January 2014

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.

scientific article

New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression

scientific article published on 16 December 2008

Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model

scientific article published in January 2005

Ontogenetic changes in serum S100B in Down syndrome patients

scientific article published in May 2005

Optimization of alginate microcapsules containing cells overexpressing α-l-iduronidase using Box-Behnken design

scientific article published on 4 September 2017

PEGylated cationic nanoemulsions can efficiently bind and transfect pIDUA in a mucopolysaccharidosis type I murine model.

scientific article published on 14 April 2015

Paracrine Effects of Bone Marrow Mononuclear Cells in Survival and Cytokine Expression after 90% Partial Hepatectomy.

scientific article published on 23 February 2017

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

scientific article published on 11 April 2019

Photobiomodulation regulates cytokine release and new blood vessel formation during oral wound healing in rats.

scientific article published on 11 February 2016

Physicochemical properties of cationic nanoemulsions and liposomes obtained by microfluidization complexed with a single plasmid or along with an oligonucleotide: Implications for CRISPR/Cas technology

scientific article published on 22 June 2018

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report

scientific article

Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI.

scientific article published on 22 March 2011

Plasmin-mediated proteolysis is required for hepatocyte growth factor activation during liver repair

scientific article published on 13 March 2009

Platelet increases survival in a model of 90% hepatectomy in rats

scientific article published in October 2013

Poor sleep quality associates with self-reported psychiatric and cardiometabolic symptoms independently of sleep timing patterns in a large sample of rural and urban workers

scientific article published on 06 January 2020

Population analysis of the GLB1 gene in South Brazil ⬇️

scientific article published on March 1, 2011

Population medical genetics: translating science to the community

scientific article published on 11 April 2019

Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease

article

Progression rate of myelopathy in X-linked adrenoleukodystrophy heterozygotes.

scientific article published on 30 April 2015

Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy

scientific article published on 30 January 2020

Progressive heart disease in mucopolysaccharidosis type I mice may be mediated by increased cathepsin B activity

scientific article published on 6 January 2017

Recombinant encapsulated cells overexpressing alpha-L-iduronidase correct enzyme deficiency in human mucopolysaccharidosis type I cells

scientific article

Relationship between serum transforming growth factor ß1 and liver collagen content in rats treated with carbon tetrachloride ⬇️

scientific article published on 01 July 2012

S-Nitroso-N-acetylcysteine induces de-differentiation of activated hepatic stellate cells and promotes antifibrotic effects in vitro.

scientific article

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

scientific article published on 11 April 2019

Serum and tissue transforming [corrected] growth factor β1 in children with biliary atresia.

scientific article published in September 2010

Serum and tissue transforming growth factor β1 in children with biliary atresia

scientific article published on 12 April 2011

Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice

scientific article published on 13 December 2014

Silver nanoparticle-ionic silsesquioxane: a new system proposed as an antibacterial agent

scientific article published on 16 January 2014

Simple and efficient screening of patients with Fabry disease with high resolution melting

scientific article published on 3 January 2018

Spotlight edition on South America

scientific article published on 25 February 2020

Study of the comprehension of the scientific method by members of a university health research laboratory

scientific article

Study on possible increase in twinning rate at a small village in south Brazil

scientific article

Subcutaneous implantation of microencapsulated cells overexpressing α-L-iduronidase for mucopolysaccharidosis type I treatment

scientific article published on February 2017

The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent

scientific article published on 26 May 2015

The Latin-American network of human genetics.

scientific article published in January 2004

The effects of anesthetic regimen in 90% hepatectomy in rats ⬇️

scientific article published on October 1, 2012

The role of B7 costimulation in benzene immunotoxicity and its potential association with cancer risk

scientific article published on 06 June 2018

The use of LR values to check the best fit of cut-off values in G6PD deficient cases

scientific article published on 19 January 2007

There is no complete linkage between the polymorphisms N680S and T307A of the follicular stimulating hormone receptor gene in fertile women.

scientific article

Tolerability and Effects of the Use of Energy-Enriched Infant Formula After Congenital Heart Surgery: A Randomized Controlled Trial

scientific article published on 22 March 2019

Transcoronary gradient of plasma microRNA 423-5p in heart failure: evidence of altered myocardial expression.

scientific article

Transient high-level expression of beta-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA.

scientific article

Treatment of MPS I mice with microencapsulated cells overexpressing IDUA: effect of the prednisolone administration

scientific article published on 18 February 2013

Twin Peaks: A spatial and temporal study of twinning rates in Brazil

scientific article published on 20 July 2018

Twin Town in South Brazil: a Nazi's experiment or a genetic founder effect?

scientific article published on 8 June 2011

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association? ⬇️

scientific article published on August 1, 2012

Unique frequency of known mutations in Brazilian MPS I patients

scientific article published on 01 January 2000

Vascular endothelial growth factor gene therapy induces early re-establishment of canine bronchial circulation

scientific article published on 21 February 2008

Worldwide distribution of common IDUA pathogenic variants

scientific article

[Neuropathic pain in a young female patient with Fabry's disease: a new mutation of the alpha-galactosidase A gene]

scientific article published on 01 October 2005

miRNA-21 and miRNA-34a Are Potential Minimally Invasive Biomarkers for the Diagnosis of Pancreatic Ductal Adenocarcinoma.

scientific article published in January 2016

p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients

scientific article published on 25 September 2014

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