Browsing Biological Sciences by Title

Now showing items 2965-2984 of 3087

    • Twenty years of the Fabry Outcome Survey (FOS) : insights, achievements, and lessons learned from a global patient registry 

      Beck, Michael; Ramaswami, Uma; Hernberg-Stahl, E.; Hughes, Derralynn A.; Kampmann, Christoph; Mehta, Atul B.; Nicholls, Kathleen M.; Niu, Dauming; Pintos-Morell, G.; Reisin, Ricardo; West, Michael L.; Schenk, Jörn Magnus; Anagnostopoulou, Christina; Botha, Jaco; Giugliani, Roberto (2022) [Journal article]
      Background: Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the efects of treatment on large patient populations with rare diseases. ...

    • Twin peaks : a spatial and temporal study of twinning rates in Brazil 

      Santos, Augusto César Cardoso dos; Boquett, Juliano André; Oliveira, Marcelo Zagonel de; Callegari-Jacques, Sidia Maria; Barbian, Márcia Helena; Sanseverino, Maria Teresa Vieira; Matte, Ursula da Silveira; Faccini, Lavinia Schuler (2018) [Journal article]
      Twin births are an important public health issue due to health complications for both mother and children. While it is known that contemporary factors have drastically changed the epidemiology of twins in certain developed ...

    • Twin town in south Brazil : a Nazi’s experiment or a genetic founder effect? 

      Ribeiro, Alice Tagliani; Oliveira, Mariana de; Sassi, Adriana Koslovski; Rodrigues, Maíra Ribeiro; Oliveira, Marcelo Zagonel de; Steinman, Gary; Matte, Ursula da Silveira; Fagundes, Nelson Jurandi Rosa; Faccini, Lavinia Schuler (2011) [Journal article]
      Cândido Godói (CG) is a small municipality in South Brazil with approximately 6,000 inhabitants. It is known as the ‘‘Twins’ Town’’ due to its high rate of twin births. Recently it was claimed that such high frequency of ...

    • Two decades of colonization of the urban environment of Porto Alegre, southern Brazil, by Drosophila paulistorum (Diptera, Drosophilidae) 

      Garcia, Ana Cristina Lauer; Valiati, Victor Hugo; Gottschalk, Marco Silva; Rohde, Claudia; Gaiesky, Vera Lúcia da Silva Valente (2008) [Journal article]
      Drosophila paulistorum Dobzhansky & Pavan, 1949 era considerada inicialmente ausente em ambientes com influência antrópica, mas a detecção dessa espécie na cidade de Porto Alegre, sul do Brasil, em 1985, sugeriu seu potencial ...

    • Two new species of Odontostilbe historically hidden under O. microcephala (Characiformes: Cheirodontinae) 

      Chuctaya Vasquez, Junior Alberto; Bührnheim, Cristina Motta; Malabarba, Luiz Roberto (2018) [Journal article]
      Specimens historically identified as Odontostilbe microcephala from the upper rio Paraná and Andean piedmont tributaries of the río Paraguay are reviewed and split in three species. We found that the distribution of O. ...

    • Two new troglobitic species of Scleropactidae (Crustacea: Isopoda: Oniscidea) from Pará, Brazil 

      Campos Filho, Ivanklin Soares; Araujo, Paula Beatriz de (2011) [Journal article]
      The South America Scleropactidae includes 53 nominal species distributed in 14 genera. In Brazil, there are 16 species recorded in the north and southeast regions. Here, two new species of Scleropactidae are described based ...

    • A two-step workflow based on plasma p-tau217 to screen for amyloid β positivity with further confirmatory testing only in uncertain cases 

      Brum, Wagner Scheeren; Cullen, Nicholas C.; Janelidze, Shorena; Ashton, Nicholas J.; Zimmer, Eduardo Rigon; Therriault, Joseph; Benedet, Andréa L.; Rahmouni, Nesrine; Tissot, Cecile; Stevenson, Jenna; Servaes, Stijn; Triana-Baltzer, Gallen B.; Kolb, Hartmuth C.; Palmqvist, Sebastian; Stomrud, Erik; Rosa Neto, Pedro; Blennow, Kaj; Hansson, Oskar (2023) [Journal article]
      Cost-effective strategies for identifying amyloid-β (Aβ) positivity in patients with cognitive impairment are urgently needed with recent approvals of anti-Aβ immunotherapies for Alzheimer’s disease (AD). Blood biomarkers ...

    • A two-tier bioinformatic pipeline to develop probes for target capture of nuclear loci with applications in Melastomataceae 

      Jantzen, Johanna R.; Amarasinghe, Prabha; Folk, Ryan A.; Reginato, Marcelo; Michelangeli, Fabián Armando; Soltis, Douglas E.; Cellinese, Nico; Soltis, Pamela S. (2020) [Journal article]
      Putatively single-copy nuclear (SCN) loci, which are identified using genomic resources of closely related species, are ideal for phylogenomic inference. However, suitable genomic resources are not available for many clades, ...

    • Tympanic membrane retractions in patients with Williams Syndrome : a controlled study 

      Oliveira, Marcelo Wierzynski de; Lavinsky, Joel; Valério, Marcel Machado; Felix, Temis Maria; Lavinsky, Luiz (2021) [Journal article]
      Introduction The role of elastin in tympanic retractions and chronic otitis media is not well established. Williams Syndrome (WS), a pathology related to a mutation in the elastin gene, could generate tympanic retractions. ...

    • Type 2 deiodinase Thr92Ala polymorphism is not associated with cognitive impairment in older adults : a cross-sectional study 

      Schwengber, Wallace Klein; Silveira, Vítor Böck; Hetzel, Guilherme Moreira; Robaina, Amanda; Ceolin, Lucieli; Camelier, Marli Teresinha Viapiana; Goemann, Iuri Martin; Dalla Corte, Roberta Rigo; Scheffel, Rafael Selbach; Mello, Renato Gorga Bandeira de; Maia, Ana Luiza Silva; Dora, José Miguel Silva (2022) [Journal article]
      Background: Type 2 Deiodinase (DIO2) converts thyroxine (T4) into the active hormone triiodothyronine (T3). Thr92Ala DIO2 polymorphism has been associated with reduced conversion of T4 into T3 and central nervous system ...

    • Ultrastructural analysis of the dorsal body gland of the terrestrial snail Megalobulimus abbreviatus (Becquaert, 1948) 

      Moraes, Gabriela Duarte de; Achaval-Elena, Matilde; Dal Piva, Maria Marchand; Heuser, Maria Cristina Faccioni; Wassermann, Guillermo Federico; Zancan, Denise Maria (2010) [Journal article]
      Foi analisada a ultraestrutura da glândula reprodutiva corpo dorsal (CD) de Megalobulimus abbreviatus. Imunoistoquímica para microscopia eletrônica foi utilizada para detectar peptídeos relacionados ao tetrapeptídeo FMRFamida ...

    • Understanding Brazil’s catastrophic fires : causes, consequences and policy needed to prevent future tragedies 

      Pivello, Vânia Regina; Vieira, Ima Célia Guimarães; Christianini, Alexander V.; Ribeiro, Danilo Bandini; Menezes, Luciana da Silva; Berlinck, Christian Niel; Melo, Felipe P. L.; Marengo, José A.; Tornquist, Carlos Gustavo; Tomas, Walfrido Moraes; Overbeck, Gerhard Ernst (2021) [Journal article]
      Brazil has experienced unprecedented wildfires in the last decade. Images ofimmense burnt areas or dead animals that failed to escape the 2020 wildfires have shocked the world. To prevent or minimize further similardisasters ...

    • Understanding the early presentation of mucopolysaccharidoses disorders : results of a systematic literature review and physician survey 

      Clarke, Lorne A.; Wijburg, Frits; Giugliani, Roberto (2018) [Journal article]
      As therapies are developed for rare disorders, challenges of early diagnosis become particularly relevant. This article focuses on clinical recognition of mucopolysaccharidoses (MPS), a group of rare genetic diseases related ...

    • Uniparental genetic markers in South Amerindians 

      Machado, Rafael Bisso; Bortolini, Maria Cátira; Salzano, Francisco Mauro (2012) [Journal article]
      A comprehensive review of uniparental systems in South Amerindians was undertaken. Variability in the Y-chromosome haplogroups were assessed in 68 populations and 1,814 individuals whereas that of Y-STR markers was assessed ...

    • Uniparental (mtDNA, Y-chromosome) polymorphisms in French Guiana and two related populations : implications for the region's colonization 

      Mazières, Stéphane; Guitard, Evelyne; Crubézy, Eric; Dugoujon, Jean-Michel; Bortolini, Maria Cátira; Bonatto, Sandro Luis; Hutz, Mara Helena; Bois, Etienne; Tiouka, Félix; Larrouy, Georges; Salzano, Francisco Mauro (2007) [Journal article]
      Blood samples collected in four Amerindian French Guiana populations (Palikur, Emerillon, Wayampi and Kali’na) in the early 1980s were screened for selected mtDNA and Y-chromosome length polymorphisms, and sequenced for ...

    • Universal tick vaccines : candidates and remaining challenges 

      Parizi, Luis Fernando; Githaka, Naftaly Wang'ombe; Logullo, Carlos; Zhou, Jinlin; Onuma, Misao; Termignoni, Carlos; Vaz Junior, Itabajara da Silva (2023) [Journal article]
      Recent advancements in molecular biology, particularly regarding massively parallel sequencing technologies, have enabled scientists to gain more insight into the physiology of ticks. While there has been progress in ...

    • Unmet needs in countries participating in the undiagnosed diseases network international : an international survey considering national health care and economic indicators 

      Cunha-Cruz, Joana; Sciascia, Savino; Giugliani, Roberto; Taruscio, Domenica (2022) [Journal article]
      Background: Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare ...

    • Unraveling oxidative stress response in the cestode parasite Echinococcus granulosus 

      Cancela, Martín; Paes, Jéssica Andrade; Moura, Hércules; Barr, John Robert; Zaha, Arnaldo; Ferreira, Henrique Bunselmeyer (2019) [Journal article]
      Cystic hydatid disease (CHD) is a worldwide neglected zoonotic disease caused by Echinococcus granulosus. The parasite is well adapted to its host by producing protective molecules that modulate host immune response. An ...

    • Unraveling rice tolerance mechanisms against schizotetranychus oryzae mite infestation 

      Buffon, Giseli; Blasi, Édina Aparecida dos Reis; Rativa, Angie Geraldine Sierra; Lamb, Thainá Inês; Gastmann, Rodrigo; Adamski, Janete Mariza; Schwambach, Joseli; Ricachenevsky, Felipe Klein; Heringer, Angelo Schuabb; Silveira, Vanildo; Lopes, Mara Cristina Barbosa; Sperotto, Raul Antonio (2018) [Journal article]
      Rice is the staple food for over half of the world’s population. Infestation of Schizotetranychus oryzae (Acari: Tetranychidae) causes great losses in rice productivity. To search for rice genotypes that could better ...

    • Unravelling MADS-box gene family in Eucalyptus spp. : a starting point to an understanding of their developmental role in trees 

      Dias, Beatriz Fonseca de Oliveira; Araújo, Jean Luiz Simões; Russo, Claudia Augusta de Moraes; Margis, Rogerio; Ferreira, Márcio Alves (2005) [Journal article]
      MADS-box genes encode a family of transcription factors which control diverse developmental processes in flowering plants ranging from root to flower and fruit development. Members of the MADS-box gene family share a highly ...