232 results on '"Pic-Taylor, A."'
Search Results
2. Toxicity and Teratogenic Potential of Piplartine from Piper tuberculatum Jacq. during Embryonic Development in Mice (Mus musculus)
- Author
-
Giulliano Rezende Silva, Lívia Thaís Gontijo Miranda, Shirley Aline da Costa Arteaga da Silva, Laise Rodrigues de Andrade, Natanael Carvalho de Souza, Bruno Silva Sá, Elivaldo Ribeiro de Santana, Andreanne Gomes Vasconcelos, Daniel Carneiro Moreira, Aline Pic-Taylor, Alessandra Durazzo, Massimo Lucarini, Lydia Fumiko Yamaguchi, Massuo Jorge Kato, Amilcar Sabino Damazo, Daniel Dias Rufino Arcanjo, José Roberto de Souza de Almeida Leite, and José Eduardo Baroneza
- Subjects
piplartine ,piperlongumine ,maternal toxicity ,teratogenic potential ,developmental biology ,toxicology ,Pharmacy and materia medica ,RS1-441 ,Chemistry ,QD1-999 - Abstract
Piplartine, also known as piperlongumine, is a natural and biologically active amide alkaloid found in various Piper species within the Piperaceae family. It possesses numerous beneficial properties that can be leveraged in the development of nanotechnological and pharmaceutical products. However, information on the effects of piplartine on mammalian embryonic development is scarce. This study aims to assess the general toxicity and teratogenic potential of piplartine during the embryonic development of mice. Pregnant mice received daily treatments of 25, 50, or 100 mg/kg of piplartine via gavage from the sixth day of gestation (implantation) to the eighteenth. On the eighteenth day, the mice were euthanized, and whole organs, blood samples (for hematological and biochemical analyses), and bone marrow cells (for DNA fragmentation and cell cycle assays) were collected. The uterus was examined for implantation sites and embryo resorptions. Additionally, fetuses were collected to assess for fetal anomalies. Piplartine did not result in maternal or embryo-fetal toxicity, induce fetal anomalies, cause hematological and biochemical alterations, or lead to DNA fragmentation. The oral administration of piplartine is safe and does not exhibit toxicity or teratogenic effects in mice. This finding opens avenues for the development of piplartine-based biotechnological products for therapeutic interventions in disease treatment.
- Published
- 2024
- Full Text
- View/download PDF
3. Multilevel assessment of carbamazepine effects: An integrative approach using zebrafish early-life stages
- Author
-
Silva, Muriel Lopes da, Andrade, Thayres Sousa, Villacis, Rolando André Rios, Sousa-Moura, Diego, Domingues, Inês, Lisboa, Carolina Almeida, Camargo, Níchollas Serafim, Pic-Taylor, Aline, Oliveira, Rhaul de, and Grisolia, Cesar Koppe
- Published
- 2024
- Full Text
- View/download PDF
4. Effects of incubation temperature on development, morphology, and thermal physiology of the emerging Neotropical lizard model organism Tropidurus torquatus
- Author
-
Anderson Kennedy Soares De-Lima, Carlos Henke de Oliveira, Aline Pic-Taylor, and Julia Klaczko
- Subjects
Medicine ,Science - Abstract
Abstract Incubation temperature is among the main phenotypic trait variation drivers studied since the developmental trajectory of oviparous animals is directly affected by environmental conditions. In the last decades, global warming predictions have aroused interest in understanding its impacts on biodiversity. It is predicted that the effects of direct warming will be exacerbated by other anthropogenic factors, such as microclimatic edge effects. Although the Brazilian Cerrado biome is one of the most affected by these issues, little is known about the aforementioned effects on its biodiversity. Therefore, the aim of our study is to investigate the influence of incubation temperature on developmental parameters, morphology and thermal physiology traits of the collared lizard (Tropidurus torquatus). Furthermore, we discuss our findings regarding lizard developmental biology and the climate change paradigm. Therefore, we incubated T. torquatus eggs under five temperature regimes ranging from artificial nest temperature (28.7 °C) to 35.0 °C. We found that elevated incubation temperatures affect several investigated traits: egg mass gain is positively affected, without any influence in newborn mass; incubation period is broadly reduced with temperature increase; survival rate is negatively affected by temperature, constant 35.0 °C regime is confirmed as a lethal incubation temperature, and the sex ratio is affected at 30.0 °C, with a prevailing outbreak of females. Increased incubation temperature also affects body and head size but has no effect on limb size. Newborn thermoregulation and the critical thermal maximum (CTmax) are not affected by incubation temperature. On the other hand, basal body temperature (Tbb) and the critical thermal minimum (CTmin) were positively affected. Thermal physiology was also affected by age, with newborns differing from adults for all analyzed thermal traits. Our findings indicate that future modifications in incubation temperature regimes at nesting sites caused by warming may affect several features of the development, morphology, and thermal physiology of newborns of this species. Laboratory experiments have pointed to possible drastic effects of warming on lizard survival rates, also affecting aspects of its natural history and population distribution. Moreover, in addition to being more vulnerable than adults in aspects such as predation and feeding, T. torquatus newborns are also more vulnerable regarding thermal physiological traits.
- Published
- 2022
- Full Text
- View/download PDF
5. Effects of incubation temperature on development, morphology, and thermal physiology of the emerging Neotropical lizard model organism Tropidurus torquatus
- Author
-
De-Lima, Anderson Kennedy Soares, de Oliveira, Carlos Henke, Pic-Taylor, Aline, and Klaczko, Julia
- Published
- 2022
- Full Text
- View/download PDF
6. Toxicity and Teratogenic Potential of Piplartine from Piper tuberculatum Jacq. during Embryonic Development in Mice (Mus musculus).
- Author
-
Silva, Giulliano Rezende, Miranda, Lívia Thaís Gontijo, da Silva, Shirley Aline da Costa Arteaga, Andrade, Laise Rodrigues de, Souza, Natanael Carvalho de, Sá, Bruno Silva, Santana, Elivaldo Ribeiro de, Vasconcelos, Andreanne Gomes, Moreira, Daniel Carneiro, Pic-Taylor, Aline, Durazzo, Alessandra, Lucarini, Massimo, Yamaguchi, Lydia Fumiko, Kato, Massuo Jorge, Damazo, Amilcar Sabino, Arcanjo, Daniel Dias Rufino, Leite, José Roberto de Souza de Almeida, and Baroneza, José Eduardo
- Subjects
EMBRYOLOGY ,MICE ,ORAL drug administration ,FETAL abnormalities ,BONE marrow cells - Abstract
Piplartine, also known as piperlongumine, is a natural and biologically active amide alkaloid found in various Piper species within the Piperaceae family. It possesses numerous beneficial properties that can be leveraged in the development of nanotechnological and pharmaceutical products. However, information on the effects of piplartine on mammalian embryonic development is scarce. This study aims to assess the general toxicity and teratogenic potential of piplartine during the embryonic development of mice. Pregnant mice received daily treatments of 25, 50, or 100 mg/kg of piplartine via gavage from the sixth day of gestation (implantation) to the eighteenth. On the eighteenth day, the mice were euthanized, and whole organs, blood samples (for hematological and biochemical analyses), and bone marrow cells (for DNA fragmentation and cell cycle assays) were collected. The uterus was examined for implantation sites and embryo resorptions. Additionally, fetuses were collected to assess for fetal anomalies. Piplartine did not result in maternal or embryo-fetal toxicity, induce fetal anomalies, cause hematological and biochemical alterations, or lead to DNA fragmentation. The oral administration of piplartine is safe and does not exhibit toxicity or teratogenic effects in mice. This finding opens avenues for the development of piplartine-based biotechnological products for therapeutic interventions in disease treatment. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
7. Insights into how environment shapes post-mortem RNA transcription in mouse brain
- Author
-
Raphael Severino Bonadio, Larissa Barbosa Nunes, Patricia Natália S. Moretti, Juliana Forte Mazzeu, Stefano Cagnin, Aline Pic-Taylor, and Silviene Fabiana de Oliveira
- Subjects
Medicine ,Science - Abstract
Abstract Most biological features that occur on the body after death were already deciphered by traditional medicine. However, the molecular mechanisms triggered in the cellular microenvironment are not fully comprehended yet. Previous studies reported gene expression alterations in the post-mortem condition, but little is known about how the environment could influence RNA degradation and transcriptional regulation. In this work, we analysed the transcriptome of mouse brain after death under three concealment simulations (air exposed, buried, and submerged). Our analyses identified 2,103 genes differentially expressed in all tested groups 48 h after death. Moreover, we identified 111 commonly upregulated and 497 commonly downregulated genes in mice from the concealment simulations. The gene functions shared by the individuals from the tested environments were associated with RNA homeostasis, inflammation, developmental processes, cell communication, cell proliferation, and lipid metabolism. Regarding the altered biological processes, we identified that the macroautophagy process was enriched in the upregulated genes and lipid metabolism was enriched in the downregulated genes. On the other hand, we also described a list of biomarkers associated with the submerged and buried groups, indicating that these environments can influence the post-mortem RNA abundance in its particular way.
- Published
- 2021
- Full Text
- View/download PDF
8. Insights into how environment shapes post-mortem RNA transcription in mouse brain
- Author
-
Bonadio, Raphael Severino, Nunes, Larissa Barbosa, Moretti, Patricia Natália S., Mazzeu, Juliana Forte, Cagnin, Stefano, Pic-Taylor, Aline, and de Oliveira, Silviene Fabiana
- Published
- 2021
- Full Text
- View/download PDF
9. Effects of the hallucinogenic beverage ayahuasca on voluntary ethanol intake by rats and on cFos expression in brain areas relevant to drug addiction
- Author
-
Nolli, Luciana Marangni, de Oliveira, Danilo Gustavo Rodrigues, Alves, Stefany Sousa, von Zuben, Marcus Vinicius, Pic-Taylor, Aline, Mortari, Marcia Renata, and Caldas, Eloisa Dutra
- Published
- 2020
- Full Text
- View/download PDF
10. Genetic and genomics in congenital heart disease: a clinical review
- Author
-
Saliba, Aline, Figueiredo, Ana Carolina Vaqueiro, Baroneza, José Eduardo, Afiune, Jorge Yuseff, Pic‐Taylor, Aline, Oliveira, Silviene Fabiana de, and Mazzeu, Juliana Forte
- Published
- 2020
- Full Text
- View/download PDF
11. Emulsion incorporating Eugenia dysenterica aqueous extract entrapped in chitosan microparticles as a novel topical treatment of cutaneous infections
- Author
-
Mazutti da Silva, Sandra M., Ferreira-Nunes, Ricardo, Amore, Clara R., Martins, Diegue H.N., Pic-Taylor, Aline, Fonseca-Bazzo, Yris M., Silveira, Damaris, Gelfuso, Guilherme M., and Magalhães, Pérola O.
- Published
- 2020
- Full Text
- View/download PDF
12. Developmental anomalies in ‘reptiles’: a scoping review
- Author
-
Dillenburg, G., primary, Pic-Taylor, A., additional, and Klaczko, J., additional
- Published
- 2023
- Full Text
- View/download PDF
13. Genetic and genomics in congenital heart disease: a clinical review
- Author
-
Aline Saliba, Ana Carolina Vaqueiro Figueiredo, José Eduardo Baroneza, Jorge Yuseff Afiune, Aline Pic‐Taylor, Silviene Fabiana de Oliveira, and Juliana Forte Mazzeu
- Subjects
Defeitos cardíacos ,Congênita/epidemiologia ,Embriologia ,Predisposição genética à doença ,Aneuploidia ,CNV ,Pediatrics ,RJ1-570 - Abstract
Objective: Discuss evidence referring to the genetic role in congenital heart diseases, whether chromosomic alterations or monogenic diseases. Data source: LILACS, PubMed, MEDLINE, SciELO, Google Scholar, and references of the articles found. Review articles, case reports, book chapters, master's theses, and doctoral dissertations were included. Summary of findings: Congenital heart diseases are among the most common type of birth defects, afflicting up to 1% of the liveborn. Traditionally, the etiology was defined as a multifactorial model, with both genetic and external contribution, and the genetic role was less recognized. Recently, however, as the natural evolution and epidemiology of congenital heart diseases change, the identification of genetic factors has an expanding significance in the clinical and surgical management of syndromic or non‐syndromic heart defects, providing tools for the understanding of heart development. Conclusions: Concrete knowledge of congenital heart disease etiology and recognition of the genetic alterations may be helpful in the bedside management, defining prognosis and anticipating complications. Resumo: Objetivo: Discutir as evidências referentes ao papel genético em cardiopatias congênitas, sejam alterações cromossômicas ou doenças monogênicas. Fonte de dados: Lilacs, PubMed, Medline, SciELO, Google Scholar e referências dos artigos encontrados. Artigos de revisão, relatos de casos, capítulos de livros, dissertações de mestrado e teses de doutorado foram incluídos. Síntese dos dados: As cardiopatias congênitas estão entre os tipos mais comuns de defeitos congênitos, afetando até 1% dos nascidos vivos. Tradicionalmente, a etiologia era definida como um modelo multifatorial, com contribuição tanto genética quanto externa, sendo o papel genético menos reconhecido. Recentemente, no entanto, à medida que a evolução natural e a epidemiologia das cardiopatias congênitas mudaram, a identificação de fatores genéticos tem adquirido importância crescente no tratamento clínico e cirúrgico de defeitos cardíacos sindrômicos e não-sindrômicos, fornecendo ferramentas para a compreensão do desenvolvimento do coração. Conclusões: O conhecimento concreto da etiologia das cardiopatias congênitas e o reconhecimento das alterações genéticas podem ser úteis no tratamento à beira do leito, definindo o prognóstico e antecipando as complicações.
- Published
- 2020
- Full Text
- View/download PDF
14. Toxicity of ayahuasca after 28 days daily exposure and effects on monoamines and brain-derived neurotrophic factor (BDNF) in brain of Wistar rats
- Author
-
Colaço, Camila Schoueri, Alves, Stefany Sousa, Nolli, Luciana Marangni, Pinheiro, Willie Oliveira, de Oliveira, Danilo Gustavo Rodrigues, Santos, Beatriz Werneck Lopes, Pic-Taylor, Aline, Mortari, Márcia Renata, and Caldas, Eloisa Dutra
- Published
- 2020
- Full Text
- View/download PDF
15. Maternal and developmental toxicity of the hallucinogenic plant-based beverage ayahuasca in rats
- Author
-
da Motta, Luciana Gueiros, de Morais, Juliana Alves, Tavares, Ana Carolina A.M., Vianna, Leonora Maciel Sousa, Mortari, Marcia Renata, Amorim, Rivadávio Fernandes Batista, Carvalho, Rosângela R., Paumgartten, Francisco José R., Pic-Taylor, Aline, and Caldas, Eloisa Dutra
- Published
- 2018
- Full Text
- View/download PDF
16. Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations
- Author
-
Vaqueiro, Ana Carolina, de Oliveira, Claudiner Pereira, Cordoba, Mara Santos, Versiani, Beatriz Ribeiro, de Carvalho, Camila Xavier, Alves Rodrigues, Pedro Guilherme, de Oliveira, Silviene Fabiana, Mazzeu, Juliana Forte, and Pic-Taylor, Aline
- Published
- 2018
- Full Text
- View/download PDF
17. Reproductive effects of the psychoactive beverage ayahuasca in male Wistar rats after chronic exposure
- Author
-
Santos, Alana de Fátima Andrade, Vieira, Ana Luiza Sarkis, Pic-Taylor, Aline, and Caldas, Eloisa Dutra
- Published
- 2017
- Full Text
- View/download PDF
18. The regulation of the cell division cycle by forkhead proteins in Saccharomyces cerevisiae
- Author
-
Pic-Taylor, Aline
- Subjects
572.8 ,Yeast ,Cancer ,Embryogenesis ,Development - Published
- 2001
19. Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review
- Author
-
Vanessa Sodré de Souza, Gabriela Corassa Rodrigues da Cunha, Beatriz R. Versiani, Claudiner Pereira de Oliveira, Maria Teresa Alves Silva Rosa, Silviene F. de Oliveira, Patricia N. Moretti, Juliana F. Mazzeu, and Aline Pic-Taylor
- Subjects
Genetics ,Original Article ,Genetics (clinical) - Abstract
WAGR syndrome (Wilms' tumor, aniridia, genitourinary changes, and intellectual disability) is a contiguous gene deletion syndrome characterized by the joint deletion of PAX6 and WT1 genes, located in the short arm of chromosome 11. However, most deletions include other genes, leading to multiple associated phenotypes. Therefore, understanding how genes deleted together can contribute to other clinical phenotypes is still considered a challenge. In order to establish genotype-phenotype correlation in patients with interstitial deletions of the short arm of chromosome 11, we selected 17 patients with deletions identified by chromosomal microarray analysis: 4 new subjects and 13 subjects previously described in the literature with detailed clinical data. Through the analysis of deleted regions and the phenotypic changes, it was possible to suggest the contribution of specific genes to several nonclassical phenotypes, contributing to the accuracy of clinical characterization of the syndrome and emphasizing the broad phenotypic spectrum found in the patients. This study reports the first patient with a PAX6 partial deletion who does not present any eye anomaly thus opening a new set of questions about the functional activity of PAX6.
- Published
- 2022
20. <scp>SHORT</scp> syndrome in an adult Brazilian patient
- Author
-
Ana Caroline G. Gonçalves, Patricia N. Moretti, Mara S. Cordoba, Renata S. Oliveira, Fernanda S. C. Lopes, Silviene F. Oliveira, Aline Pic‐Taylor, Luiz Claudio Castro, and Juliana F. Mazzeu
- Subjects
Genetics ,Genetics (clinical) - Published
- 2022
21. ZDHHC9X‐linked intellectual disability: Clinical and molecular characterization
- Author
-
Ramos, Anna Karolina Silva, primary, Caldas‐Rosa, Erica Carine Campos, additional, Ferreira, Bárbara Merfort, additional, Versiani, Beatriz Ribeiro, additional, Moretti, Patrícia Natalia, additional, de Oliveira, Silviene Fabiana, additional, Pic‐Taylor, Aline, additional, and Mazzeu, Juliana F., additional
- Published
- 2022
- Full Text
- View/download PDF
22. Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant
- Author
-
Braz, S. V., primary, Benicio, R. A., additional, Tonelli, G. S. S. S., additional, Báo, S. N., additional, Moretti, P. N., additional, Pic-Taylor, A., additional, Oliveira, S. F., additional, Acevedo, A. C., additional, Costa, I. M. C., additional, and Mazzeu, J. F., additional
- Published
- 2022
- Full Text
- View/download PDF
23. Wound Healing Effect of Essential Oil Extracted from Eugenia dysenterica DC (Myrtaceae) Leaves
- Author
-
Sandra Márcia Mazutti da Silva, Claudio Rodrigues Rezende Costa, Guilherme Martins Gelfuso, Eliete Neves Silva Guerra, Yanna Karla de Medeiros Nóbrega, Sueli Maria Gomes, Aline Pic-Taylor, Yris Maria Fonseca-Bazzo, Damaris Silveira, and Pérola de Oliveira Magalhães
- Subjects
essential oil of Eugenia dysenterica ,wound healing ,skin cell migration ,Organic chemistry ,QD241-441 - Abstract
The use of natural oils in topical pharmaceutical preparations has usually presented safe agents for the improvement of human health. Based on research into the immense potential of wound management and healing, we aimed to validate the use of topical natural products by studying the ability of the essential oil of Eugenia dysenterica DC leaves (oEd) to stimulate in vitro skin cell migration. Skin cytotoxicity was evaluated using a fibroblast cell line (L929) by MTT assay. The oil chemical profile was investigated by GC-MS. Moreover, the inhibition of lipopolysaccharide (LPS) induced nitric oxide (NO) production in the macrophage cell line (RAW 264.7) tested. The Chick Chorioallantoic Membrane (CAM) assay was used to evaluate the angiogenic activity and irritating potential of the oil. The oEd induces skin cell migration in a scratch assay at a concentration of 542.2 µg/mL. α-humulene and β-caryophyllene, the major compounds of this oil, as determined by GC-MS, may partly explain the migration effect. The inhibition of nitric oxide by oEd and α-humulene suggested an anti-inflammatory effect. The CAM assay showed that treatment with oEd ≤ 292 µg/mL did not cause skin injury, and that it can promote angiogenesis in vivo. Hence, these results indicate the feasibility of the essential oil of Eugenia dysenterica DC leaves to developed dermatological products capable of helping the body to repair damaged tissue.
- Published
- 2018
- Full Text
- View/download PDF
24. Effects of incubation temperature on development, morphology, and thermal physiology of the emerging Neotropical lizard model organism Tropidurus torquatus
- Author
-
Anderson Kennedy Soares De-Lima, Carlos Henke de Oliveira, Aline Pic-Taylor, and Julia Klaczko
- Subjects
Multidisciplinary ,Climate Change ,Temperature ,Animals ,Female ,Lizards ,Global Warming ,Ecosystem - Abstract
Incubation temperature is among the main phenotypic trait variation drivers studied since the developmental trajectory of oviparous animals is directly affected by environmental conditions. In the last decades, global warming predictions have aroused interest in understanding its impacts on biodiversity. It is predicted that the effects of direct warming will be exacerbated by other anthropogenic factors, such as microclimatic edge effects. Although the Brazilian Cerrado biome is one of the most affected by these issues, little is known about the aforementioned effects on its biodiversity. Therefore, the aim of our study is to investigate the influence of incubation temperature on developmental parameters, morphology and thermal physiology traits of the collared lizard (Tropidurus torquatus). Furthermore, we discuss our findings regarding lizard developmental biology and the climate change paradigm. Therefore, we incubated T. torquatus eggs under five temperature regimes ranging from artificial nest temperature (28.7 °C) to 35.0 °C. We found that elevated incubation temperatures affect several investigated traits: egg mass gain is positively affected, without any influence in newborn mass; incubation period is broadly reduced with temperature increase; survival rate is negatively affected by temperature, constant 35.0 °C regime is confirmed as a lethal incubation temperature, and the sex ratio is affected at 30.0 °C, with a prevailing outbreak of females. Increased incubation temperature also affects body and head size but has no effect on limb size. Newborn thermoregulation and the critical thermal maximum (CTmax) are not affected by incubation temperature. On the other hand, basal body temperature (Tbb) and the critical thermal minimum (CTmin) were positively affected. Thermal physiology was also affected by age, with newborns differing from adults for all analyzed thermal traits. Our findings indicate that future modifications in incubation temperature regimes at nesting sites caused by warming may affect several features of the development, morphology, and thermal physiology of newborns of this species. Laboratory experiments have pointed to possible drastic effects of warming on lizard survival rates, also affecting aspects of its natural history and population distribution. Moreover, in addition to being more vulnerable than adults in aspects such as predation and feeding, T. torquatus newborns are also more vulnerable regarding thermal physiological traits.
- Published
- 2021
25. Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant
- Author
-
S. V. Braz, R. A. Benicio, G. S. S. S. Tonelli, S. N. Báo, P. N. Moretti, A. Pic-Taylor, S. F. Oliveira, A. C. Acevedo, I. M. C. Costa, and J. F. Mazzeu
- Subjects
Nucleocytoplasmic Transport Proteins ,Vitamin B 12 ,Hyperpigmentation ,Homozygote ,Mutation ,Humans ,ATP-Binding Cassette Transporters ,Female ,Vitamin B 12 Deficiency ,Dermatology - Abstract
Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Mutations of the ABCD4 or LMBRD1 genes can lead to cobalamin-related disorders. We report a patient with disseminated skin hyperpigmentation caused by a homozygous LMBRD1 variant. Genetic disorders of cobalamin metabolism caused by variants in the ABCD4 or LMBRD1 genes should be considered in patients presenting with cutaneous hyperpigmentation. Click https://www.wileyhealthlearning.com/#/online-courses/a6ef1275-8325-4834-89d2-aa18fa31e63f for the corresponding questions to this CME article.
- Published
- 2021
26. ZDHHC9 X‐linked intellectual disability: Clinical and molecular characterization.
- Author
-
Ramos, Anna Karolina Silva, Caldas‐Rosa, Erica Carine Campos, Ferreira, Bárbara Merfort, Versiani, Beatriz Ribeiro, Moretti, Patrícia Natalia, de Oliveira, Silviene Fabiana, Pic‐Taylor, Aline, and Mazzeu, Juliana F.
- Abstract
The ZDHHC9 gene encodes the Zinc Finger DHHC‐Type Containing 9 protein that functions as a palmitoyltransferase. Variants in this gene have been reported as the cause of Raymond‐type X‐linked intellectual disability with only 16 families described in the literature. This study reviews molecular and clinical data from previously reported patients and reports the case of a 13‐year‐old patient with a splicing variant in ZDHHC9 presenting intellectual disability, developmental delay, facial dysmorphisms, and skeletal defects. Although intellectual disability and developmental delay with severe speech delay have been reported in all cases with available clinical data, the remaining clinical signs differ significantly between patients. Missense, nonsense, frameshift, and splicing variants, in addition to large exonic deletions, have been described suggesting a loss of function mechanism. Though variants are distributed in almost all exons, most missense and nonsense variants affect arginine residues located in the cytoplasmic domains of this transmembrane protein, suggesting possible mutational hotspots. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
27. Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review
- Author
-
de Souza, Vanessa Sodré, primary, da Cunha, Gabriela Corassa Rodrigues, additional, Versiani, Beatriz R., additional, de Oliveira, Claudiner Pereira, additional, Rosa, Maria Teresa Alves Silva, additional, de Oliveira, Silviene F., additional, Moretti, Patricia N., additional, Mazzeu, Juliana F., additional, and Pic-Taylor, Aline, additional
- Published
- 2022
- Full Text
- View/download PDF
28. SHORT syndrome in an adult Brazilian patient
- Author
-
Gonçalves, Ana Caroline G., primary, Moretti, Patricia N., additional, Cordoba, Mara S., additional, Oliveira, Renata S., additional, Lopes, Fernanda S. C., additional, Oliveira, Silviene F., additional, Pic‐Taylor, Aline, additional, Castro, Luiz Claudio, additional, and Mazzeu, Juliana F., additional
- Published
- 2022
- Full Text
- View/download PDF
29. Genotype and phenotype correlation in a family with a 2q37 deletion downstream of <scp> HDAC4 </scp>
- Author
-
Ana Carolina Vaqueiro Figueiredo, Aline Saliba, Aline Pic-Taylor, Silviene Fabiana de Oliveira, Beatriz R. Versiani, Patricia Moretti, and Juliana F. Mazzeu
- Subjects
Genetics ,Genotype ,Penetrance ,Biology ,HDAC4 ,Histone Deacetylases ,Repressor Proteins ,Correlation ,Genotype-phenotype distinction ,Downstream (manufacturing) ,Chromosomes, Human, Pair 2 ,Humans ,Chromosome Deletion ,Genetics (clinical) - Published
- 2020
30. Effects of the hallucinogenic beverage ayahuasca on voluntary ethanol intake by rats and on cFos expression in brain areas relevant to drug addiction
- Author
-
Stefany Sousa Alves, Luciana Marangni Nolli, Marcus Vinicius von Zuben, Eloisa Dutra Caldas, Márcia Renata Mortari, Aline Pic-Taylor, and Danilo Gustavo Rodrigues de Oliveira
- Subjects
Male ,Hallucinogen ,Health (social science) ,Alcohol Drinking ,Narcotic Antagonists ,media_common.quotation_subject ,Prefrontal Cortex ,Striatum ,Nucleus accumbens ,Pharmacology ,Toxicology ,Serotonergic ,Biochemistry ,Nucleus Accumbens ,Naltrexone ,03 medical and health sciences ,Behavioral Neuroscience ,0302 clinical medicine ,Cortex (anatomy) ,Animals ,Medicine ,Rats, Wistar ,media_common ,Ethanol ,business.industry ,Addiction ,Banisteriopsis ,Brain ,Water ,General Medicine ,Ayahuasca ,Corpus Striatum ,Rats ,030227 psychiatry ,medicine.anatomical_structure ,Neurology ,Models, Animal ,Hallucinogens ,business ,Proto-Oncogene Proteins c-fos ,030217 neurology & neurosurgery ,medicine.drug - Abstract
Ayahuasca is a hallucinogenic infusion used in religious rituals that has serotoninergic properties and may be a potential therapeutic option for drug addiction. In this study, Wistar rats had intermittent access to ethanol for 8 weeks, receiving water (control), naltrexone (NTX, 2 mg/kg body weight [bw] intraperitoneally [i.p.]) or ayahuasca (Aya) at 0.5x, 1x, or 2x the ritual dose in the final 5 days. A naïve group had access only to water. Ethanol intake was estimated throughout the experiment, and cFos expression was evaluated in medial orbital cortex (MO), ventral orbital cortex (VO), lateral orbital cortex (LO), nucleus accumbens (NAc), and striatum. Treatment with either NTX or Aya (oral) did not decrease ethanol intake compared to the baseline level (5th to 7th week), but the NTX group intake was significantly lower than controls (p 0.05). Ethanol significantly increased cFos expression in the MO region for control (p 0.0001), NTX (p 0.05), Aya1 (p 0.001), and Aya2 (p 0.0001) groups. This increase was also observed in the VO for the Aya1 group (p = 0.035), in the LO for the Aya2 group (p 0.01), and in NAc for NTX and ayahuasca groups (p 0.005). Furthermore, NTX and Aya0.5 treatment decreased cFos expression compared to controls in the MO region (p 0.05 and p 0.01, respectively), but only the ayahuasca group reached levels not significantly different from the naïve group. Studies using other protocols and dose regime are necessary to better investigate the impact of ayahuasca on alcohol intake by rats to support the observations in humans. Additionally, the role of ayahuasca in mediating cFos expression in other selected brain regions and its relationship with the serotoninergic/dopaminergic systems and drug addiction need further investigation.
- Published
- 2020
31. Fat phenotype, associated factors and rs9939609 polymorphism of the FTO gene
- Author
-
William Alves Lima, Maria Fátima Glaner, and Aline Pic Taylor
- Subjects
Sports ,GV557-1198.995 ,Medicine (General) ,R5-920 - Abstract
The purpose of this work was to review the main results of studies that have analysed the relationship between the rs9939609 single nucleotide polymorphism (SNP) of the FTO gene and the manifestation of overweight/obesity with its associated co-morbidity, and to discuss the interaction of this polymorphism with the other factors which cause obesity. The search was performed using the MEDLINE, Highwire, Science Direct and SciELO databases, applying the following key words: FTO rs9939609, obesity genetic, gene associated obesity, FTO contributes obesity. Inclusion criteria were: original articles where the search was performed in humans and including the rs9939609. Articles that analysed the FTO gene associated with preinstalled hormonal diseases were excluded. Of the several SNP associated with the FTO gene, rs9939609 has been the most researched (studied). This SNP comprises the A and T alleles, with the A homozygote being most susceptible to the development of overweight/obesity in all age ranges, especially in the caucasian population. In this situation, the control of environmental factors (alimentation and physical activity) can prevent the excessive build up of fats. Obesity is related to the development of non-transmissible chronic illnesses. Association of rs9939609 polymorphism with the lipidic profile and glycemia were observed. The practicing of physical exercise and feeding habits seem to be the main contributors in the development of overweight/obesity and its resulting co-morbidity.
- Published
- 2010
- Full Text
- View/download PDF
32. Insights into how environment shapes post-mortem RNA transcription in mouse brain
- Author
-
Patricia Moretti, Juliana F. Mazzeu, Stefano Cagnin, Aline Pic-Taylor, Larissa Barbosa Nunes, Raphael Severino Bonadio, and Silviene Fabiana de Oliveira
- Subjects
0301 basic medicine ,Cell signaling ,Science ,RNA Stability ,RNA, RNA degradation, post mortem, brain ,Biology ,Environment ,Article ,Transcriptome ,03 medical and health sciences ,Mice ,0302 clinical medicine ,RNA degradation ,Downregulation and upregulation ,Gene expression ,Transcriptional regulation ,Animals ,030216 legal & forensic medicine ,Gene ,post mortem ,Multidisciplinary ,Gene Expression Profiling ,RNA ,Brain ,Reproducibility of Results ,Lipid metabolism ,Cell biology ,030104 developmental biology ,Gene Expression Regulation ,Medicine ,Genetic markers ,Gene-Environment Interaction ,Autopsy ,Biomarkers - Abstract
Most biological features that occur on the body after death were already deciphered by traditional medicine. However, the molecular mechanisms triggered in the cellular microenvironment are not fully comprehended yet. Previous studies reported gene expression alterations in the post-mortem condition, but little is known about how the environment could influence RNA degradation and transcriptional regulation. In this work, we analysed the transcriptome of mouse brain after death under three concealment simulations (air exposed, buried, and submerged). Our analyses identified 2,103 genes differentially expressed in all tested groups 48 h after death. Moreover, we identified 111 commonly upregulated and 497 commonly downregulated genes in mice from the concealment simulations. The gene functions shared by the individuals from the tested environments were associated with RNA homeostasis, inflammation, developmental processes, cell communication, cell proliferation, and lipid metabolism. Regarding the altered biological processes, we identified that the macroautophagy process was enriched in the upregulated genes and lipid metabolism was enriched in the downregulated genes. On the other hand, we also described a list of biomarkers associated with the submerged and buried groups, indicating that these environments can influence the post-mortem RNA abundance in its particular way.
- Published
- 2021
33. Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions
- Author
-
Maria T.A. da S. Rosa, Beatriz R. Versiani, Aline Pic-Taylor, Patricia Moretti, Marcela D Hanna, Juliana F. Mazzeu, Claudiner Pereira de Oliveira, and Silviene Fabiana de Oliveira
- Subjects
Genetics ,Regulation of gene expression ,0303 health sciences ,Microarray analysis techniques ,030305 genetics & heredity ,Short Report ,Chromosome ,Biology ,medicine.disease ,Phenotype ,03 medical and health sciences ,Epilepsy ,Intellectual disability ,medicine ,Gene ,Transcription factor ,Genetics (clinical) ,030304 developmental biology - Abstract
Terminal microdeletions of the long arm of chromosome 6 are associated with a phenotype that includes multiple brain malformations, intellectual disability, and epilepsy. A 1.7-Mb region has been proposed to contain a gene responsible for the brain anomalies. Here, we present the case of a 12-year-old girl with multiple brain alterations and moderate intellectual disability with a 18-kb deletion in chromosome 6q27, which is smaller than the microdeletions previously described by microarray analysis. We refined the smallest region of overlap possibly associated with the phenotype of brain malformations and intellectual disability to a segment of 325 kb, comprising the DLL1, PSMB1, TBP, and PDCD2 genes since these genes were structurally and/or functionally lost in the smaller deletions described to date. We hypothesize that DLL1 is responsible for brain malformations and possibly interacts with other adjacent genes. The TBP gene encodes a transcription factor which is potentially related to cognitive development. TBP is linked to PSMB1 and PDCD2 in a conserved manner among mammals, suggesting a potential interaction between these genes. In conclusion, the 6q27 microdeletion is a complex syndrome with variable expressivity of brain malformations and intellectual disability phenotypes which are possibly triggered by the 4 genes described and adjacent genes susceptible to gene regulation changes.
- Published
- 2019
34. Correction to: Toxicity of ayahuasca after 28 days daily exposure and effects on monoamines and brain-derived neurotrophic factor (BDNF) in brain of Wistar rats
- Author
-
Márcia Renata Mortari, Stefany Sousa Alves, Aline Pic-Taylor, Camila Schoueri Colaço, Danilo Gustavo Rodrigues de Oliveira, Willie O. Pinheiro, Beatriz Werneck Lopes Santos, Luciana Marangni Nolli, and Eloisa Dutra Caldas
- Subjects
Hallucinogen ,Brain-derived neurotrophic factor ,medicine.medical_specialty ,business.industry ,Serotonin reuptake inhibitor ,Serotonergic ,Biochemistry ,Cellular and Molecular Neuroscience ,Monoamine neurotransmitter ,Endocrinology ,Dopamine ,Internal medicine ,Medicine ,Antidepressant ,Neurology (clinical) ,Serotonin ,business ,medicine.drug - Abstract
Ayahuasca is a hallucinogenic beverage that affects the serotonergic system and have therapeutic potential for many diseases and disorders, including depression and drug addiction. The objectives of this study were to evaluate the potential toxic effects of ayahuasca on rats after chronic exposure, and the levels of monoamines, their metabolites and the brain-derived neurotrophic factor (BDNF) in the brain. Female and male rats were treated orally for 28 days with H2O (control), fluoxetine (FLX), a selective serotonin reuptake inhibitor antidepressant, or ayahuasca (Aya) at doses of 0.5X, 1X and 2X the ritualistic dose (7 to 10 animals/group). Clinical, hematological and macroscopic results showed that ayahuasca was safe to the rats. Behavior tests conducted one hour after the last treatment showed that male rats from the Aya1 group explored the open field central area less than the control group, and the number of entries in the central area compared to total locomotion was also significantly lower in this group and in the FLX group. The hippocampus was removed for BDNF analysis and the remaining brain was used for monoamine analysis by HPLC-FL. Serotonin levels were significantly higher than control only in the Aya2 female group, while a significant reduction of its metabolite 5-HIAA was observed in the FLX group. Dopamine levels were similar among the experimental groups, but the levels of its metabolite DOPAC increased significantly in the Aya1 and Aya2 groups compared to controls, especially in females, and the DOPAC/dopamine turnover was significantly higher in Aya2 group. The levels of HVA, another dopamine metabolite, did not change with the treatments compared to controls, but HVA/DOPAC ratio was significantly lower in all ayahuasca male groups. Norepinephrine was not detected in any brain sample, and the levels of its metabolite MHPG did not change significantly among the groups. BDNF levels in the hippocampus were significantly higher in the FLX and Aya2 female groups compared to controls when expressed in relation to the total brain weight. The mechanisms involved in the increase in serotonin, dopamine turnover and BDNF levels observed in ayahuasca treated animals should be further investigated in specific brain areas.
- Published
- 2021
35. Partial AFF2 Microduplication in A Patient With Auditory Processing Disorder, Emotional Impairment and Macrosomia
- Author
-
da Rocha, Naiara Braz, dos Santos, Pollyanna Almeida Costa, Safatle, Heloisa Pires Netto, de Melo, Reneide Maria, Pereira, Rinaldo Wellerson, de Oliveira, Silviene Fabiana, Pic-Taylor, Aline, Ferrari, Iris, and Mazzeu, Juliana Forte
- Published
- 2014
- Full Text
- View/download PDF
36. A Study of Gene Expression in the Nematode Resistant Wild Peanut Relative, Arachis stenosperma, in Response to Challenge with Meloidogyne arenaria
- Author
-
Guimarães, Patricia Messenberg, Brasileiro, Ana Cristina Miranda, Proite, Karina, de Araújo, Ana Claudia Guerra, Leal-Bertioli, Soraya Cristina Macedo, Pic-Taylor, Aline, da Silva, Felipe Rodrigues, Morgante, Carolina Vianna, Ribeiro, Simone da Graça, and Bertioli, David John
- Published
- 2010
- Full Text
- View/download PDF
37. Toxicity of ayahuasca after 28 days daily exposure and effects on monoamines and brain-derived neurotrophic factor (BDNF) in brain of Wistar rats
- Author
-
Camila Schoueri Colaço, Stefany Sousa Alves, Luciana Marangni Nolli, Willie Oliveira Pinheiro, Danilo Gustavo Rodrigues de Oliveira, Beatriz Werneck Lopes Santos, Aline Pic-Taylor, Márcia Renata Mortari, and Eloisa Dutra Caldas
- Subjects
0301 basic medicine ,Brain Chemistry ,Male ,Serotonin ,Behavior, Animal ,Brain-Derived Neurotrophic Factor ,Dopamine ,Banisteriopsis ,Motor Activity ,Biochemistry ,Hippocampus ,Rats ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,030104 developmental biology ,0302 clinical medicine ,Fluoxetine ,Animals ,Biogenic Monoamines ,Female ,Neurology (clinical) ,Rats, Wistar ,030217 neurology & neurosurgery ,Selective Serotonin Reuptake Inhibitors - Abstract
Ayahuasca is a hallucinogenic beverage that affects the serotonergic system and have therapeutic potential for many diseases and disorders, including depression and drug addiction. The objectives of this study were to evaluate the potential toxic effects of ayahuasca on rats after chronic exposure, and the levels of monoamines, their metabolites and the brain-derived neurotrophic factor (BDNF) in the brain. Female and male rats were treated orally for 28 days with H
- Published
- 2019
38. Maternal and developmental toxicity of the hallucinogenic plant-based beverage ayahuasca in rats
- Author
-
Eloisa Dutra Caldas, Luciana Gueiros da Motta, Francisco José Roma Paumgartten, Rivadávio Fernandes Batista de Amorim, Márcia Renata Mortari, Ana Carolina A.M. Tavares, Aline Pic-Taylor, R.R. Carvalho, Leonora Maciel de Sousa Vianna, and Juliana Alves de Morais
- Subjects
Male ,Hallucinogen ,Psychotria viridis ,Developmental toxicity ,Physiology ,Kidney ,Toxicology ,Serotonin syndrome ,Beverages ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Testis ,medicine ,Animals ,Conceptus ,Abnormalities, Multiple ,Rats, Wistar ,Maternal-Fetal Exchange ,Skeleton ,Neurons ,Fetal Growth Retardation ,biology ,business.industry ,Banisteriopsis ,Uterus ,Abnormalities, Drug-Induced ,Brain ,Embryo, Mammalian ,medicine.disease ,biology.organism_classification ,030227 psychiatry ,Teratogens ,Liver ,Hallucinogens ,Gestation ,Female ,Plant Preparations ,Ureter ,medicine.symptom ,Raphe nuclei ,business ,030217 neurology & neurosurgery - Abstract
Rats were treated orally with ayahuasca (AYA) on gestation days (GD) 6-20 at doses corresponding to one-(1X) to eight-fold (8X) the average dose taken by a human adult in a religious ritual, and the pregnancy outcome evaluated on GD21. Rats treated with 4X and 8X doses died during the treatment period (44 and 52%), and those that survived showed kidney injury. Rats surviving the 8X dose showed neuronal loss in hippocampal regions and in the raphe nuclei, and those from the 2X dose neuronal loss in CA1. Delayed intrauterine growth, induced embryo deaths and increased occurrence of foetal anomalies were observed at the 8X dose. At non-lethal doses, AYA enhanced embryolethality and the incidence of foetal soft-tissue and skeleton anomalies. This study suggested that AYA is developmentally toxic and that its daily use by pregnant women may pose risks for the conceptus.
- Published
- 2018
39. High Frequency of Copy-Neutral Loss of Heterozygosity in Patients with Myelofibrosis
- Author
-
Raphael Severino Bonadio, Alexandre Nonino, Rinaldo Wellerson Pereira, Aline Pic-Taylor, Silviene Fabiana de Oliveira, Juliana F. Mazzeu, Cintia do Couto Mascarenhas, Milton Rego de Paula Junior, and Juliana Minuncio Nascimento
- Subjects
Adult ,Male ,DNA Copy Number Variations ,Loss of Heterozygosity ,Biology ,medicine.disease_cause ,Loss of heterozygosity ,03 medical and health sciences ,0302 clinical medicine ,Gene duplication ,Genetics ,medicine ,Chromosomes, Human ,Humans ,Multiplex ligation-dependent probe amplification ,Myelofibrosis ,Molecular Biology ,Genetics (clinical) ,Aged ,Oligonucleotide Array Sequence Analysis ,Mutation ,Chromosome ,Karyotype ,Janus Kinase 2 ,Middle Aged ,medicine.disease ,Primary Myelofibrosis ,Karyotyping ,030220 oncology & carcinogenesis ,Cancer research ,Female ,Calreticulin ,Trisomy ,Receptors, Thrombopoietin ,030215 immunology - Abstract
Myelofibrosis is the rarest and most severe type of Philadelphia-negative classical myeloproliferative neoplasms. Although mutually exclusive driver mutations in JAK2, MPL, or CALR that activate JAK-STAT pathway have been related to the pathogenesis of the disease, chromosome abnormalities have also been associated with the phenotype and prognosis of the disease. Here, we report the use of a chromosomal microarray platform consisting of both oligo and SNP probes to improve the detection of chromosome abnormalities in patients with myelofibrosis. Sixteen patients with myelofibrosis were tested, and the results were compared to karyotype analysis. Driver mutations in JAK2, MPL, or CALR were investigated by PCR and MLPA. Conventional cytogenetics revealed chromosome abnormalities in 3 out of 16 cases (18.7%), while chromosomal microarray analysis detected copy-number variations (CNV) or copy-neutral loss of heterozygosity (CN-LOH) alterations in 11 out of 16 (68.7%) patients. These included 43 CN-LOH, 14 deletions, 1 trisomy, and 1 duplication. Ten patients showed multiple chromosomal abnormalities, varying from 2 to 13 CNVs or CN-LOHs. Mutational status for JAK2, CALR, and MPL by MLPA revealed a total of 3/16 (18.7%) patients positive for the JAK2 V617F mutation, 9 with CALR deletion or insertion and 1 positive for MPL mutation. Considering that most of the CNVs identified were smaller than the karyotype resolution and the high frequency of CN-LOHs in our study, we propose that chromosomal microarray platforms that combine oligos and SNP should be used as a first-tier genetic test in patients with myelofibrosis.
- Published
- 2018
40. Polo kinase controls cell-cycle-dependent transcription by targeting a coactivator protein
- Author
-
Darieva, Zoulfia, Bulmer, Richard, Pic-Taylor, Aline, Doris, Kathryn S., Geymonat, Marco, Sedgwick, Steven G., Morgan, Brian A., and Sharrocks, Andrew D.
- Subjects
Environmental issues ,Science and technology ,Zoology and wildlife conservation - Abstract
Author(s): Zoulfia Darieva [1]; Richard Bulmer [2]; Aline Pic-Taylor [2, 4]; Kathryn S. Doris [2]; Marco Geymonat [3]; Steven G. Sedgwick [3]; Brian A. Morgan (corresponding author) [2]; Andrew D. [...]
- Published
- 2006
- Full Text
- View/download PDF
41. Integrated assessment of toxic effects of maghemite (γ-Fe2O3) nanoparticles in zebrafish
- Author
-
Cesar Koppe Grisolia, Rolando A R Villacis, Ricardo Bentes Azevedo, Juliana F. Mazzeu, José de Souza Filho, Aline Pic-Taylor, and Benjamin Piña
- Subjects
0301 basic medicine ,DNA damage ,Thiobarbituric acid ,Health, Toxicology and Mutagenesis ,010501 environmental sciences ,Aquatic Science ,Biology ,Malondialdehyde ,medicine.disease_cause ,01 natural sciences ,Molecular biology ,Transcriptome ,03 medical and health sciences ,chemistry.chemical_compound ,030104 developmental biology ,chemistry ,Biochemistry ,Toxicity ,TBARS ,medicine ,Oxidative stress ,Genotoxicity ,0105 earth and related environmental sciences - Abstract
The increasing use of nanotechnology in the last decade has raised concerns about the impact of nanoparticles in the environment. In particular, the potential harmful effects of iron oxide nanoparticles (IONPs) in aquatic organisms have been poorly addressed. We analyze here the toxic effects induced by IONPs in zebrafish using a combination of classical (genotoxicity, oxidative stress) and molecular (transcriptomic) methodologies. Adult animals were exposed for 96h to five sub-lethal IONP concentrations, ranging from 4.7 to 74.4mg/L. Comet and micronucleus assays revealed a significant number of DNA lesions induced by IONPs at all concentrations tested. Conversely, the thiobarbituric acid reactive substances (TBARS) test detected only a mild oxidative damage in liver cells (∼1.5-fold increase of malondialdehyde concentrations) and only at the two higher IONP concentrations tested. Microarray analysis of liver samples identified 953 transcripts (927 unique genes) differentially expressed between controls and IONP-exposed samples. Subsequent functional analysis identified genes related to cation/metal ion binding, membrane formation, and morphogenesis among the transcripts overrepresented upon IONP treatments, whereas mRNAs encompassing genes associated with RNA biogenesis, translation, ribosomes, and several metabolic processes became underrepresented in treated samples. Taken together, these results indicate considerable genotoxic effects of IONPs combined with general negative effect on cell growth and on the ability of the cell produce new proteins. On the contrary, IONPs showed only a limited capacity to induce oxidative stress. To our knowledge, this is the first study on IONPs toxicity using such an integrative approach in an aquatic organism.
- Published
- 2017
42. Genotype and phenotype correlation in a family with a 2q37 deletion downstream ofHDAC4
- Author
-
Moretti, Patricia N., primary, Figueiredo, Ana Carolina V., additional, Saliba, Aline, additional, Versiani, Beatriz R., additional, Oliveira, Silviene F., additional, Pic‐Taylor, Aline, additional, and Mazzeu, Juliana F., additional
- Published
- 2020
- Full Text
- View/download PDF
43. A Staging Table of Post-Ovipositional Development for the South American Collared LizardTropidurus torquatus(Squamata: Tropiduridae)
- Author
-
Fabiano Campos Lima, Antonio Sebben, tainã Rapp Py-Daniel, Anderson Kennedy Soares De-Lima, Osmindo Rodrigues Pires Júnior, and Aline Pic-Taylor
- Subjects
0106 biological sciences ,African clawed frog ,Histology ,Squamata ,Phylogenetic tree ,Hatching ,Lizard ,Ontogeny ,010607 zoology ,Zoology ,Anatomy ,Biology ,biology.organism_classification ,010603 evolutionary biology ,01 natural sciences ,biology.animal ,Limb development ,Cloaca ,Ecology, Evolution, Behavior and Systematics ,Biotechnology - Abstract
The mouse, chicken, African clawed frog, and zebrafish are considered ¨model organisms¨ due to their extensive embryological and genetic characterization. However, they are far from representative of known diversity, impairing phylogenetic analyses of developmental patterns. Since squamates have historically received limited attention in developmental studies, we here describe the developmental sequence for Tropidurus torquatus, and provide the first post-ovipositional developmental series for the lizard family Tropiduridae. Fifteen developmental stages are described based on morphological traits such as the eye and accessory visual structures, pharyngeal arches, fusion of facial primordia, limb development, pigmentation, and scales. Organogenesis is already in progression at oviposition (Stage 28), with embryos continuing to develop at the incubation temperature of 30°C ± 1°C, and hatching after 75 ± 5 days, at Stage 42. Comparisons with other lizards show a conserved embryonic sequence, however developmental timing differences were found in features such as the pharyngeal arches, endolymphatic sacs, pigmentation and scales. The development of the phallic and cranial lip of the cloaca anlages are compared with that of other lizards. The order of T. torquatus fore- and hindlimb formation differs from that most commonly observed in lizards. The abundance and close association of this species with urban environments, as well as the ease of capturing and managing females, makes T. torquatus an attractive source of developmental data for future experimental and ontogenetic studies. Anat Rec, 300:277-290, 2017. © 2016 Wiley Periodicals, Inc.
- Published
- 2016
44. A Balanced Reciprocal Translocation t(2;9)(p25;q13) Disrupting the LINC00299 Gene in a Patient with Intellectual Disability
- Author
-
Bianca F. dos Reis, Romina Soledad Heredia, Halinna Dornelles-Wawruk, Maria Terezinha O. Cardoso, Silviene Fabiana de Oliveira, Raphael Severino Bonadio, Juliana F. Mazzeu, Aline Pic-Taylor, and Milton Rego de Paula-Júnior
- Subjects
Genetics ,Intergenic region ,Derivative chromosome ,Microarray ,Microarray analysis techniques ,Novel Insights from Clinical Practice ,Breakpoint ,Chromosomal translocation ,Karyotype ,Biology ,Gene ,Genetics (clinical) - Abstract
Long intergenic noncoding RNAs (lincRNAs) are a class of noncoding RNAs implicated in several biological processes. LincRNA 299 (LINC00299) maps to 2p25.1 and its function is still unknown. However, this gene has been proposed as a candidate for intellectual disability (ID) in a patient with a balanced translocation where the breakpoint disrupted its ORF. Here, we describe a new case of LINC00299 disruption associated with ID. The individual, a 42-year-old woman, was referred to the clinical geneticist because of her son who had severe syndromic ID. G-banding and chromosomal microarray analysis were performed. Karyotyping of the boy revealed an extranumerary derivative chromosome identified as an unbalanced translocation between chromosomes 2 and 9 of maternal origin. The mother's karyotype showed a balanced translocation 46,XX,t(2;9)(p25;q13). Chromosomal microarray indicated a disruption of LINC00299. These data corroborate the role of LINC00299 as a causative gene for ID and broadens the spectrum of LINC00299-related phenotypes.
- Published
- 2019
45. Wound Healing Effect of Essential Oil Extracted from Eugenia dysenterica DC (Myrtaceae) Leaves
- Author
-
Pérola Oliveira Magalhães, Guilherme M. Gelfuso, Dâmaris Silveira, Yris Maria Fonseca-Bazzo, Aline Pic-Taylor, Sueli Maria Gomes, Yanna Karla de Medeiros Nóbrega, Sandra Márcia Mazutti da Silva, Claudio Costa, and Eliete Neves Silva Guerra
- Subjects
0301 basic medicine ,essential oil of Eugenia dysenterica ,Lipopolysaccharides ,Lipopolysaccharide ,Pharmaceutical Science ,Nitric Oxide ,Eugenia ,Article ,Analytical Chemistry ,Nitric oxide ,law.invention ,Cell Line ,lcsh:QD241-441 ,03 medical and health sciences ,chemistry.chemical_compound ,Mice ,lcsh:Organic chemistry ,In vivo ,law ,Cell Movement ,Drug Discovery ,Oils, Volatile ,skin cell migration ,Animals ,Humans ,MTT assay ,Physical and Theoretical Chemistry ,Cytotoxicity ,Essential oil ,Polycyclic Sesquiterpenes ,Wound Healing ,Traditional medicine ,Chemistry ,Macrophages ,Organic Chemistry ,In vitro ,Monocyclic Sesquiterpenes ,Plant Leaves ,030104 developmental biology ,RAW 264.7 Cells ,Chemistry (miscellaneous) ,Molecular Medicine ,Wound healing ,Sesquiterpenes - Abstract
The use of natural oils in topical pharmaceutical preparations has usually presented safe agents for the improvement of human health. Based on research into the immense potential of wound management and healing, we aimed to validate the use of topical natural products by studying the ability of the essential oil of Eugenia dysenterica DC leaves (oEd) to stimulate in vitro skin cell migration. Skin cytotoxicity was evaluated using a fibroblast cell line (L929) by MTT assay. The oil chemical profile was investigated by GC-MS. Moreover, the inhibition of lipopolysaccharide (LPS) induced nitric oxide (NO) production in the macrophage cell line (RAW 264.7) tested. The Chick Chorioallantoic Membrane (CAM) assay was used to evaluate the angiogenic activity and irritating potential of the oil. The oEd induces skin cell migration in a scratch assay at a concentration of 542.2 µ, g/mL. &alpha, humulene and &beta, caryophyllene, the major compounds of this oil, as determined by GC-MS, may partly explain the migration effect. The inhibition of nitric oxide by oEd and &alpha, humulene suggested an anti-inflammatory effect. The CAM assay showed that treatment with oEd &le, 292 µ, g/mL did not cause skin injury, and that it can promote angiogenesis in vivo. Hence, these results indicate the feasibility of the essential oil of Eugenia dysenterica DC leaves to developed dermatological products capable of helping the body to repair damaged tissue.
- Published
- 2018
46. A new scent organ for Gymnodactylus lizards (Squamata: Phyllodactylidae) and an updated evolutionary scenario for the origin of squamate epidermal glands
- Author
-
Sacha Braun Chaves, Julia Klaczko, Antonio Sebben, Aline Pic-Taylor, Anderson Kennedy Soares De-Lima, and Fabricius M. C. B. Domingos
- Subjects
0106 biological sciences ,0301 basic medicine ,03 medical and health sciences ,030104 developmental biology ,Squamata ,biology ,Gymnodactylus ,Zoology ,Phyllodactylidae ,biology.organism_classification ,010603 evolutionary biology ,01 natural sciences ,Ecology, Evolution, Behavior and Systematics - Published
- 2018
47. Molecular determinants of the cell-cycle regulated Mcm1p–Fkh2p transcription factor complex
- Author
-
Boros, Joanna, Lim, Fei-Ling, Darieva, Zoulfia, Pic-Taylor, Aline, Harman, Ruth, Morgan, Brian A., and Sharrocks, Andrew D.
- Published
- 2003
48. Emulsion incorporating Eugenia dysenterica aqueous extract entrapped in chitosan microparticles as a novel topical treatment of cutaneous infections
- Author
-
Diegue Henrique Nascimento Martins, Guilherme M. Gelfuso, Ricardo Ferreira-Nunes, Dâmaris Silveira, Pérola Oliveira Magalhães, Aline Pic-Taylor, Yris Maria Fonseca-Bazzo, Clara R. Amore, and Sandra Márcia Mazutti da Silva
- Subjects
integumentary system ,medicine.drug_class ,Antibiotics ,Pharmaceutical Science ,Catechin ,02 engineering and technology ,Pharmacology ,Skin infection ,021001 nanoscience & nanotechnology ,medicine.disease ,medicine.disease_cause ,030226 pharmacology & pharmacy ,In vitro ,Chitosan ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,chemistry ,Staphylococcus aureus ,Emulsion ,medicine ,0210 nano-technology ,Cytotoxicity - Abstract
The indiscriminate use of antibiotics has resulted in resistant strains of bacteria, especially of Staphylococcus aureus, which causes relevant skin diseases. With the objective to obtain a novel stable, safe and effective dermatological formulation for the treatment of these skin infections from a natural product, in this work we evaluated in vitro the activity of an aqueous extract of Eugenia dysenterica (EDA) to resistant strains of S. aureus and its cytotoxicity against skin cells. The extract was then entrapped into chitosan microparticles with further incorporation in a dermatologically acceptable formulation. The formulation had its stability evaluated and was tested to determine skin permeation of its biomarker, catechin, as well as its angiogenic activity. The EDA demonstrated effect against a series of S. aureus strains, particularly some resistant to current antibiotics. The extract also exhibited no significant cytotoxic effect on skin cells. Developed chitosan microparticles incorporated 70.1% of the catechin content from the EDA. The emulsion in which these microparticles were incorporated showed relative stability for 60 days at 6 °C. Also, this formulation increased catechin skin penetration and showed an angiogenic action. Therefore, it seems to be a promising alternative for topical treatment of skin infections caused by S. aureus.
- Published
- 2020
49. Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing
- Author
-
Rosenelle Oliveira Araújo Benício, Robert Pogue, Marcela A. Chiabai, Mara Santos Córdoba, Aline Pic-Taylor, Regina Célia Mingroni-Netto, Beatriz R. Versiani, Silviene Fabiana de Oliveira, Jun Shen, Karina Lezirovitz, Yasmin Soares de Lima, and Juliana F. Mazzeu
- Subjects
Genetic Markers ,0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Hearing loss ,Genetic counseling ,DNA Mutational Analysis ,03 medical and health sciences ,Hearing ,Predictive Value of Tests ,Genetic etiology ,Mutation screening ,medicine ,Humans ,Genetic Predisposition to Disease ,In patient ,Hearing Loss ,Genetic Association Studies ,Massive parallel sequencing ,business.industry ,High-Throughput Nucleotide Sequencing ,Reproducibility of Results ,Syndrome ,Sensory Systems ,GENÉTICA MOLECULAR ,Phenotype ,030104 developmental biology ,Clinical diagnosis ,Mutation ,medicine.symptom ,business - Abstract
Syndromic hearing loss accounts for approximately 30% of all cases of hearing loss due to genetic causes. Mutation screening in known genes is important because it potentially sheds light on the genetic etiology of hearing loss and helps in genetic counseling of families. In this study, we describe a customized Ion AmpliSeq Panel, specifically designed for the investigation of syndromic hearing loss. The Ion AmpliSeq Panel was customized to cover the coding sequences of 52 genes. Twenty-four patients were recruited: 17 patients with a clinical diagnosis of a known syndrome, and seven whose clinical signs did not allow identification of a syndrome. Of 24 patients sequenced, potentially causative mutations were found in nine, all of which belonged to the group with a previous clinical diagnostic and none in the group not clinically diagnosed. We were able to provide conclusive molecular diagnosis to six patients, constituting a diagnostic rate of 25% (6/24). In the group of patients with a suspected clinical diagnosis, the diagnostic rate was 35% (6/17). Of the nine different mutations identified, three are novel, and were found in patients with Waardenburg, Treacher Collins and CHARGE syndromes. Since all patients with a conclusive molecular diagnosis through this panel had a previous suspected clinical diagnosis, our results suggest that this panel was more effective in diagnosing this group of patients. Therefore, the panel demonstrated effectiveness in molecular diagnosis when compared to others in the literature, especially for patients with a defined clinical diagnosis.
- Published
- 2018
50. The use of locomotor behaviour in zebrafish to detect effects of neuroactive substances
- Author
-
Domingues, Inês, Andrade, Thayres, Sanches, Ana, Santos, Nieja, Pic-Taylor, Aline, and Espindola, Evaldo
- Abstract
No abstract available.
- Published
- 2018
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.