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  1. Article ; Online: Genetic Modifiers of Sickle Cell Anemia Phenotype in a Cohort of Angolan Children.

    Ginete, Catarina / Delgadinho, Mariana / Santos, Brígida / Miranda, Armandina / Silva, Carina / Guerreiro, Paulo / Chimusa, Emile R / Brito, Miguel

    Genes

    2024  Volume 15, Issue 4

    Abstract: The aim of this study was to identify genetic markers in ... ...

    Abstract The aim of this study was to identify genetic markers in the
    MeSH term(s) Humans ; Anemia, Sickle Cell/genetics ; Male ; Child ; Female ; Polymorphism, Single Nucleotide ; Phenotype ; Genes, Modifier ; Child, Preschool ; Adolescent ; Angola ; Repressor Proteins/genetics ; Fetal Hemoglobin/genetics ; Kruppel-Like Transcription Factors/genetics ; GTP-Binding Proteins
    Chemical Substances BCL11A protein, human ; Repressor Proteins ; Fetal Hemoglobin (9034-63-3) ; erythroid Kruppel-like factor ; Kruppel-Like Transcription Factors ; HBS1L protein, human (EC 3.6.1.-) ; GTP-Binding Proteins (EC 3.6.1.-)
    Language English
    Publishing date 2024-04-08
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes15040469
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Ethylated analogue of Zingerone: A new and eco-respectful preservative in cosmetics.

    Guerreiro, Patricio / Cupferman, Sylive / Lharidon, Jacques / Rozot, Roger / Dalko-Csiba, Maria

    International journal of cosmetic science

    2022  Volume 45, Issue 2, Page(s) 187–197

    Abstract: Objective: This article describes the eco-design of a new preservative in cosmetics based on bio-inspiration of natural extracts from traditional medicines. In order to reach the multiple specification targets, various structures have been synthesized ... ...

    Abstract Objective: This article describes the eco-design of a new preservative in cosmetics based on bio-inspiration of natural extracts from traditional medicines. In order to reach the multiple specification targets, various structures have been synthesized and evaluated to select the one demonstrating broad antimicrobial spectrum with favorable environmental profile and application potential to a wide variety of formulas.
    Methods: In order to evaluate the antimicrobial activity of the synthesized structures, the method of the challenge test consisting in an artificial contamination of the sample with collection microbial strains and evaluation of the number of revivable microorganisms was used to select the most promising candidate. Validation of its antimicrobial potential was later confirmed on Gram positive and Gram negative bacteria, yeast and mold with measurement of its Minimum Inhibitory Concentration (MIC) in comparison with known preservatives. Environmental impact assessment of the selected candidate was achieved with the help of ready biodegradability and aquatic ecotoxicity tests performed according to appropriate Organization tes a strfor Economic Co-operation and Development (OECD) and European Union (EU) guidelinesy.
    Results: Bio-inspired from turmeric and ginger extracts, an ethylated analog of Zingerone (EZ) with the chemical name 4-(3-ethoxy-4-hydroxyphenyl)butan-2-one demonstrates the strongest activity on Escherichia coli, Enterococcus faecalis, Pseudomonas aeruginosa and Candida albicans. Moreover, EZ shows a solubility in water two times higher than that of Zingerone thus increasing its interest as a potential preservative. Finally, its assessment of ready biodegradability and aquatic ecotoxicity in OECD-EU tests with a favorable environmental profile confirms its unique interest and fully justifies its use in cosmetic formulas as an eco-respectful preservative.
    Conclusion: Bio-inspiration based on technologies without noteworthy side effects but also on eco-design, particularly through the use of measures of potential environmental impact very upstream of a development, are two fundamental elements for the launching of new eco-friendly cosmetic ingredients. This approach has thus validated the strong potential of EZ as a preservative of eco-respectful formulas. The selection of EZ is also a very good example of the achievement of two key objectives targeted by cosmetic companies for the development of a novel active ingredient: environmental performance and technical performance.
    MeSH term(s) Gram-Negative Bacteria ; Gram-Positive Bacteria ; Anti-Bacterial Agents/pharmacology ; Candida albicans ; Anti-Infective Agents/pharmacology ; Cosmetics/chemistry ; Preservatives, Pharmaceutical/pharmacology
    Chemical Substances zingerone (4MMW850892) ; Anti-Bacterial Agents ; Anti-Infective Agents ; Cosmetics ; Preservatives, Pharmaceutical
    Language English
    Publishing date 2022-12-12
    Publishing country England
    Document type Journal Article
    ZDB-ID 198917-0
    ISSN 1468-2494 ; 0142-5463
    ISSN (online) 1468-2494
    ISSN 0142-5463
    DOI 10.1111/ics.12830
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Exploring the molecular pathways linking sleep phenotypes and

    Marquezini, Bruna Pereira / Moysés-Oliveira, Mariana / Kloster, Anna / Cunha, Lais / Deconto, Tais Bassani / Mosini, Amanda Cristina / Guerreiro, Pedro / Paschalidis, Mayara / Adami, Luana Nayara Gallego / Andersen, Monica Levy / Tufik, Sergio

    Journal of medical genetics

    2024  

    Abstract: Pogo transposable element-derived protein with ZNF domain ( ...

    Abstract Pogo transposable element-derived protein with ZNF domain (
    Language English
    Publishing date 2024-02-13
    Publishing country England
    Document type Journal Article
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg-2023-109508
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Single-shot, high-repetition rate carrier-envelope-phase detection of ultrashort laser pulses.

    Guo, Chen / Miranda, Miguel / Raab, Ann-Kathrin / Viotti, Anne-Lise / Tiago Guerreiro, Paulo / Romero, Rosa / Crespo, Helder / L'Huillier, Anne / Arnold, Cord L

    Optics letters

    2023  Volume 48, Issue 20, Page(s) 5431–5434

    Abstract: We propose a single-shot, high-repetition rate measurement scheme of the carrier-envelope phase offset of ultrashort laser pulses. The spectral fringes resulting from f-2f nonlinear interferometry, encoding the carrier-envelope-phase, are evaluated ... ...

    Abstract We propose a single-shot, high-repetition rate measurement scheme of the carrier-envelope phase offset of ultrashort laser pulses. The spectral fringes resulting from f-2f nonlinear interferometry, encoding the carrier-envelope-phase, are evaluated completely optically via an optical Fourier transform. For demonstration, the carrier-envelope-phase of a 200 kHz, few-cycle optical parametric chirped-pulse amplification (OPCPA) laser system was measured employing an interferometer as a periodic optical filter. The proposed method shows excellent agreement with simultaneous measurement of the spectral fringes by a fast line-scan camera.
    Language English
    Publishing date 2023-10-13
    Publishing country United States
    Document type Journal Article
    ISSN 1539-4794
    ISSN (online) 1539-4794
    DOI 10.1364/OL.498664
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Endocrine and Epigenetic Regulation as Common Pathways Underlying the Genetic Basis of Sleep Traits and Longevity.

    Moysés-Oliveira, Mariana / Adami, Luana N G / Guerreiro, Pedro / Mosini, Amanda Cristina / Kloster, Anna / Cunha, Lais / Paschalidis, Mayara / Marquezini, Bruna Pereira / Pires, Gabriel N / Tempaku, Priscila F / Andersen, Monica L / Tufik, Sergio

    Rejuvenation research

    2023  Volume 26, Issue 5, Page(s) 206–213

    Abstract: The amount of sleep needed over one's lifespan is age dependent and not sleeping enough or sleeping in excess is associated with increased morbidity and mortality. Yet, the convergent molecular mechanisms that link longevity and sleep are largely unknown. ...

    Abstract The amount of sleep needed over one's lifespan is age dependent and not sleeping enough or sleeping in excess is associated with increased morbidity and mortality. Yet, the convergent molecular mechanisms that link longevity and sleep are largely unknown. We performed a gene enrichment study that (1) identified genes associated with both longevity and sleep traits and (2) determined molecular pathways enriched among these shared genes. We manually curated two sets of genes, one associated with longevity and aging and the other with sleep traits (
    MeSH term(s) Longevity/genetics ; Epigenesis, Genetic ; Genome-Wide Association Study ; Sleep/genetics
    Language English
    Publishing date 2023-10-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2150779-X
    ISSN 1557-8577 ; 1549-1684
    ISSN (online) 1557-8577
    ISSN 1549-1684
    DOI 10.1089/rej.2023.0019
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: The relationship between neurodevelopmental transcriptional programs and insomnia: From Rubinstein-Taybi syndrome into energy metabolism.

    Cunha, Lais / Paschalidis, Mayara / Moysés-Oliveira, Mariana / Marquezini, Bruna Pereira / Deconto, Tais Bassani / Guerreiro, Pedro / Kloster, Anna / Mosini, Amanda Cristina / Gallego Adami, Luana Nayara / Andersen, Monica L / Tufik, Sergio

    Sleep medicine

    2023  Volume 112, Page(s) 9–11

    Abstract: Neurodevelopmental disorders (NDD) are characterized by cognitive, emotional, and/or motor skills impairment since childhood, and sleep disturbances are a common comorbidity. Rubinstein-Taybi syndrome (RSTS), a rare genetic syndrome associated with NDD, ... ...

    Abstract Neurodevelopmental disorders (NDD) are characterized by cognitive, emotional, and/or motor skills impairment since childhood, and sleep disturbances are a common comorbidity. Rubinstein-Taybi syndrome (RSTS), a rare genetic syndrome associated with NDD, is caused by CREBBP haploinsufficiency. This gene encodes an acetyltransferase with crucial role on the establishment of transcriptional programs during neurodevelopment. Although insomnia has been reported in RSTS patients, the convergent mechanisms between this sleep disturbance and CREBBP loss-of-function are not fully understood. We tested weather the genetic architecture underlying CREBBP regulatory targets and insomnia-associated genes is significantly shared. We then identified the biological pathways enriched among these shared genes. The intersection between CREBBP regulatory targets and genes associated with insomnia included 7 overlapping genes, indicating significantly more overlap than expected by chance. An over-representation analysis on these intersect genes identified pathways related to mitochondrial activity. This finding indicates that the transcriptional programs established by CREBBP might impact insomnia-related biological pathways through the modulation of energy metabolism. The overlapping gene set and biological pathways highlighted by this study may serve as a primer for new functional investigations of shared molecular mechanisms between insomnia and CREBBP regulatory targets.
    MeSH term(s) Humans ; Child ; Mutation ; Sleep Initiation and Maintenance Disorders/genetics ; Rubinstein-Taybi Syndrome/genetics ; Rubinstein-Taybi Syndrome/metabolism ; Energy Metabolism/genetics ; Emotions ; Phenotype
    Language English
    Publishing date 2023-09-28
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2012041-2
    ISSN 1878-5506 ; 1389-9457
    ISSN (online) 1878-5506
    ISSN 1389-9457
    DOI 10.1016/j.sleep.2023.09.031
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile.

    Jacinto, Sandra / Guerreiro, Patrícia / de Oliveira, Rita Machado / Cunha-Oliveira, Teresa / Santos, Maria João / Grazina, Manuela / Rego, Ana Cristina / Outeiro, Tiago F

    Frontiers in cellular neuroscience

    2021  Volume 15, Page(s) 641264

    Abstract: Mutations in the MPV17 gene are associated with hepatocerebral form of mitochondrial depletion syndrome. The mechanisms through which MPV17 mutations cause respiratory chain dysfunction and mtDNA depletion is still unclear. The MPV17 gene encodes an ... ...

    Abstract Mutations in the MPV17 gene are associated with hepatocerebral form of mitochondrial depletion syndrome. The mechanisms through which MPV17 mutations cause respiratory chain dysfunction and mtDNA depletion is still unclear. The MPV17 gene encodes an inner membrane mitochondrial protein that was recently described to function as a non-selective channel. Although its exact function is unknown, it is thought to be important in the maintenance of mitochondrial membrane potential (ΔΨm). To obtain more information about the role of MPV17 in human disease, we investigated the effect of MPV17 knockdown and of selected known MPV17 mutations associated with MPV17 disease
    Language English
    Publishing date 2021-03-17
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2452963-1
    ISSN 1662-5102
    ISSN 1662-5102
    DOI 10.3389/fncel.2021.641264
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Conference proceedings: GABAergic Circuits as Common Pathways Disrupted in the Genetic Basis of Sleep Phenotypes and Rare Neurodevelopmental Disorders

    Moyses-Oliveira, M. / Xavier, S. D. / Kloster, A. K. / Souza-Cunha, L. A. / Paschalidis, M. / Esteves-Guerreiro, P. A. / Tempaku, P. F. / Pires, G. N. / Andersen, M. L. / Tufik, S.

    Sleep Science

    2023  Volume 16, Issue S 01

    Event/congress XIX Congresso Brasileiro do Sono, Goiânia, 2022-11-30
    Keywords sleep ; neurodevelopment ; GABA ; genetic risk
    Language English
    Publishing date 2023-06-01
    Publisher Thieme Revinter Publicações Ltda.
    Publishing place Stuttgart ; New York
    Document type Article ; Conference proceedings
    ZDB-ID 2697016-8
    ISSN 1984-0063 ; 1984-0659 ; 1984-0063
    ISSN (online) 1984-0063
    ISSN 1984-0659 ; 1984-0063
    DOI 10.1055/s-0043-1770202
    Database Thieme publisher's database

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  9. Article ; Conference proceedings: Mutational Mechanisms Linking GRIN2A to Epileptic Encephalopathy Events during Sleep

    Moyses-Oliveira, M. / Esteves-Guerreiro, P. A. / Paschalidis, M. / Souza-Cunha, L. A. / Kloster, A. K. / Xavier, S. D. / Tempaku, P. F. / Pires, G. N. / Andersen, M. L. / Tufik, S.

    Sleep Science

    2023  Volume 16, Issue S 01

    Event/congress XIX Congresso Brasileiro do Sono, Goiânia, 2022-11-30
    Keywords sleep ; GRIN2A ; epilepsy ; Landau Kleffner Syndrome ; epileptic encephalopathy with diffuse continuous spike ; waves during slow ; wave sleep
    Language English
    Publishing date 2023-06-01
    Publisher Thieme Revinter Publicações Ltda.
    Publishing place Stuttgart ; New York
    Document type Article ; Conference proceedings
    ZDB-ID 2697016-8
    ISSN 1984-0063 ; 1984-0659 ; 1984-0063
    ISSN (online) 1984-0063
    ISSN 1984-0659 ; 1984-0063
    DOI 10.1055/s-0043-1770203
    Database Thieme publisher's database

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  10. Article: Disruption and phenotypic analysis of six open reading frames from chromosome VII of Saccharomyces cerevisiae reveals one essential gene.

    Guerreiro, P / Rodrigues-Pousada, C

    Yeast (Chichester, England)

    2001  Volume 18, Issue 9, Page(s) 781–787

    Abstract: Six open reading frames (ORFs) located on chromosome VII of Saccharomyces cerevisiae (YGR205w, YGR210c, YGR211w, YGR241c, YGR243w and YGR244c) were disrupted in two different genetic backgrounds using short-flanking homology (SFH) gene replacement. ... ...

    Abstract Six open reading frames (ORFs) located on chromosome VII of Saccharomyces cerevisiae (YGR205w, YGR210c, YGR211w, YGR241c, YGR243w and YGR244c) were disrupted in two different genetic backgrounds using short-flanking homology (SFH) gene replacement. Sporulation and tetrad analysis showed that YGR211w, recently identified as the yeast ZPR1 gene, is an essential gene. The other five genes are non-essential, and no phenotypes could be associated to their inactivation. Two of these genes have recently been further characterized: YGR241c (YAP1802) encodes a yeast adaptor protein and YGR244c (LSC2) encodes the beta-subunit of the succinyl-CoA ligase. For each ORF, a replacement cassette with long flanking regions homologous to the target locus was cloned in pUG7, and the cognate wild-type gene was cloned in pRS416.
    MeSH term(s) Chromosomes, Fungal/genetics ; Gene Deletion ; Genes, Essential/genetics ; Genes, Fungal/genetics ; Mutagenesis, Insertional ; Open Reading Frames/genetics ; Phenotype ; Plasmids/genetics ; Polymerase Chain Reaction ; Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae/growth & development ; Transformation, Genetic
    Language English
    Publishing date 2001-06-30
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 632636-5
    ISSN 1097-0061 ; 0749-503X
    ISSN (online) 1097-0061
    ISSN 0749-503X
    DOI 10.1002/yea.723
    Database MEDical Literature Analysis and Retrieval System OnLINE

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