23 research outputs found
Inclusion and pedagogical support for students with special educational needs in music lessons: A systematic review
No full textAbstract
This systematic review aims to assess research studies published between 2010 and 2023 to update the state of the art on how inclusion and pedagogical support for students with special educational needs (SEN) in Grades 1 to 9 (aged 6–15) are implemented in music lessons. The review is reported according to the PRISMA statement (Preferred Reporting Items for Systematic Reviews and Meta-Analyses). Nineteen studies met the inclusion criteria and were entered in the extraction phase. The results showed that inclusion is still understood and, thus, implemented, mainly as integration of students with SEN in general music lessons. Analysis of the original studies highlighted beneficial practices for the participation and learning of students with SEN, such as student-centered pedagogy, peer-interaction strategies, co-teaching and collaboration, and varied pedagogical methods (e.g., Dalcroze). Some challenges of inclusive pedagogy were also described, such as lack of resources or specific training for music teachers implementing inclusive music lessons. This systematic review brings together the latest research on inclusive music education to support music and special education teachers with research-based guidelines for and critical analysis of more inclusive music education practices.Abstract
This systematic review aims to assess research studies published between 2010 and 2023 to update the state of the art on how inclusion and pedagogical support for students with special educational needs (SEN) in Grades 1 to 9 (aged 6–15) are implemented in music lessons. The review is reported according to the PRISMA statement (Preferred Reporting Items for Systematic Reviews and Meta-Analyses). Nineteen studies met the inclusion criteria and were entered in the extraction phase. The results showed that inclusion is still understood and, thus, implemented, mainly as integration of students with SEN in general music lessons. Analysis of the original studies highlighted beneficial practices for the participation and learning of students with SEN, such as student-centered pedagogy, peer-interaction strategies, co-teaching and collaboration, and varied pedagogical methods (e.g., Dalcroze). Some challenges of inclusive pedagogy were also described, such as lack of resources or specific training for music teachers implementing inclusive music lessons. This systematic review brings together the latest research on inclusive music education to support music and special education teachers with research-based guidelines for and critical analysis of more inclusive music education practices
Crosstalk between thromboxane and bradykinin receptors in vascular smooth muscle cells -
No full textThesis (M.Sc.)-- American University of Beirut. Department of Biochemistry and Molecular Genetics. Faculty of Medicine, 2013. W 4Advisor : Dr. Ayad Jaffa, Chairman and Professor, Department of Biochemistry and Molecular Genetics ; Co-Advisor, Dr. Aida Habib Abdul Karim, Professor, Department of Biochemistry and Molecular Genetics ; Committee members : Dr. Fuad Ziyadeh, Chairman and Professor, Department of Internal Medicine, Dr. Nadine Darwiche, Professor, Department of Biochemistry and Molecular Genetics, Dr. Assaad Eid, Assistant Professor, Department of Anatomy, Cell Biology, and Physiological Sciences.Includes bibliographical references (leaves 72-81)Vascular inflammation and atherosclerosis are currently major causes of morbidity and mortality. Upon vascular injury, Thromboxane (TX) and Bradykinin (BK) contribute to the exacerbation of vascular diseases by inducing proliferation and constriction of vascular smooth muscle cells (VSMCs) through activating their corresponding G-protein coupled receptors (GPCRs): TX receptor (TP) and BK type-2 receptor (B2R) respectively. Cell surface localization of each of B2R and TP on the plasma membrane of VSMCs has been individually demonstrated in previous studies. Other studies have also shed light on the individual capability of each of BK and TX to favor VSMCs proliferation by activating the mitogen activated protein kinase (MAPK) cascade. Although much is known about how stimulation of either B2R or TP could activate MAPK in isolation, to our knowledge, no previous work has been done addressing how MAPK activity is regulated when those receptors are activated simultaneously. Here, we investigated the crosstalk between B2R and TP in VSMCs. Our findings provide pharmacological evidence of cooperative activation of the ERK pathway when both TP and B2R were simultaneously activated. This cooperation was synergistic in BK-dependent modulation of TP mitogenic responses and additive in the inverse direction. We also found that this cooperation could be inhibited when VSMCs were pretreated with the TP antagonist, SQ29548. However, this reciprocal effect between B2R and TP could not be secondary to non-specific binding of IBOP (TP stable agonist) or SQ29548 to B2R as seen in HEK293T cells overexpressing B2R. On the other hand, this synergy could not be reverted by the B2R-selective antagonist, HOE140, which could be exerting a possible biased agonist signaling property on the ERK1-2 pathway during the cooperation between TP and B2R. Therefore, a possible physical interaction could be involved in the cross-modulation between TP and B2R and could thus account to the pharmacologically suggested synergy. Taking into account th
Adaptation assessment of drought tolerance in maize populations from the Sahara in both shores of the Mediterranean Sea
No full textDrought is the main stress for agriculture, and maize (Zea mays L.) germplasm from the Sahara has been identified as potential source of drought tolerance; however, information about adaptation of semitropical maize germplasm from the Sahara to temperate areas has not been reported. Our objective was assessing the adaptation of maize germplasm from Saharan oases as sources of drought tolerance for improving yield and biomass production under drought conditions in temperate environments. A collection of maize populations from Saharan oases was evaluated under drought and control conditions in Spain and Algeria. Algerian populations were significantly different under drought for most traits, and the significant genotype × environment interactions indicated that drought tolerance is genotype-dependent, but tolerance differences among genotypes change across environments. Based on yield, the Algerian maize populations PI527474, PI527478, PI527472, PI527467, PI527470, and PI527473 would be appropriate sources of drought tolerance for temperate environments. Concerning biomass production, the most interesting populations were PI527467, PI542685, PI527478, and PI527472. These Saharan populations could provide favorable alleles for drought tolerance for temperate breeding programs, and could also be used for studying mechanisms and genetic regulation of drought tolerance.Research was supported by the Spanish Ministerio de Innovación y Universidades (MCIU), the Agencia Estatal de Investigación (AEI) and the European Fund for Regional Development (FEDER), UE (project code PID2019-108127RB-I00) and the École Nationale Supérieure Agronomique. Seed from Algerian populations was provided by the North Central Regional Plant Introduction Station of the USA.
Open Access funding provided thanks to the CRUE-CSIC agreement with Springer Nature.Peer reviewe
Combining ability and heterosis of maize (Zea mays L.) populations from the Algerian Sahara Desert under Mediterranean drought conditions
No full textDrought causes significant yield reduction in maize (Zea mays L.), and germplasm from the Saharan Desert offers potential sources of drought tolerance. Our objectives were to estimate heterosis and combining abilityamong Algerian maize populations under drought conditions and to identify populations and crosses as sources of drought tolerance for breeding programs in temperate environments. A diallel design without reciprocal ofsix populations was used. The populations per se, their respective crosses, and checks were evaluated in Algiers (Algeria) in 2016, 2017 and 2018. Algerian maize populations exhibited high phenotypic variability and genetic divergence under water stress. The populations IGS and AOR per se could provide favorable alleles for higher early vigor under drought, MST for reducing anthesis-silking interval (ASI), and both AOR and SHH for increasing yield under water stress. Among all crosses, IGS × MST was the most outstanding cross for reducing ASI, and IGS × SHH and BAH × SHH for increasing yield under water stress. Our results confirm the existence of heterotic relationships among Algerian maize populations from diverse origins under water stres
Combining Ability and Heterosis of Algerian Saharan Maize Populations (<i>Zea mays</i> L.) for Tolerance to No-Nitrogen Fertilization and Drought
No full textDrought and low nitrogen are major stresses for maize (Zea mays L.), and maize populations from the Sahara Desert are potential sources of stress tolerance. The objectives were to assess the tolerance and varietal and heterosis effects of Algerian populations under no-nitrogen fertilization and water stress. A diallel among six Algerian maize population was evaluated under drought (300 mm irrigation) vs. control (600 mm) and no-nitrogen fertilization vs. 120 kh ha−1 N fertilization. Genotypes showed significant differences and genetic effects for water- and nitrogen-stress tolerance. We propose a reciprocal recurrent selection to take advantage of additive and non-additive effects, using AOR and IGS, since they showed good performance in optimum and stress conditions, for improving yield heterosis for AOR × IGS. Negative effects are not expected on plant height, anthesis–silking interval or early vigor. These populations and BAH could be sources of inbred lines tolerant to drought and no-nitrogen fertilization. There was no relationship between origin and genetic group and stress tolerance per se or as parents of tolerant crosses. These populations and crosses could be used as base material among Algerian populations, for breeding programs focusing on tolerance to water or nitrogen stress
Rakennusalan työturvallisuus Suomessa ja Ruotsissa
No full textTyönantajan on huolehdittava työpaikan työturvallisuudesta. Myös jokainen työntekijä on osaltaan vastuussa sekä omasta, että muiden työntekijöiden työturvallisuudesta. Huonon työturvallisuuden johdosta tapahtunut työtapa-turma koskettaa kaikkia työpaikalla olevia, mutta erityisesti siitä kärsivät uhri sekä hänen läheisensä.
Opinnäytetyön tavoitteena oli tehdä työturvallisuusaineisto Suomen ja Ruot-sin rakennusalan opiskelijoille ja työntekijöille sekä kuvata ja vertailla maiden työturvallisuustilastoja ja -käytänteitä. Työ on osa ConEct projektia (Economical, Ecological and Sosial Construction), jonka päätavoitteena on luoda toimiva verkosto projektiin osallistuvien eri maiden (Suomi, Ruotsi, Norja, Venäjä) oppilaitosten kesken. Yhtenä tavoitteena on myös kouluttaa nuoria työntekijöitä ja erityisosaajia työelämän tarpeisiin ja edistää työntekijöiden liikkuvuutta alueella.
Työturvallisuusaineisto koottiin hankkimalla teoriatietoa rakennusalan työturvallisuudesta Suomessa ja Ruotsissa. Lisäksi aineistoa kerättiin työpaikkakäynnillä yhdessä suuressa rakennusalan yrityksessä Suomessa ja Ruotsissa. Työpaikkakäynneillä tehtiin haastatteluja, havainnointiin, otettiin valokuvia ja osallistuttiin yrityksen työturvallisuutta käsitteleviin palavereihin.
Opinnäytetyöni työturvallisuusaineistossa kuvataan Suomen ja Ruotsin työ-turvallisuutta säätelevä lainsäädäntö ja historia, työtapaturmat ja niiden mää-rä. Lisäksi kuvataan työnantajan ja työntekijän vastuut sekä niitä ohjaavat tekijät. Työturvallisuustilastoja oli vaikea verrata, koska mailla on erilaiset käy-tännöt dokumentoinnissa. Suurimmilla yrityksillä työturvallisuuteen liittyvät käytänteet kuten työntekijän perehdyttäminen ja tapaturmien seuranta on yleensä hallittua. Työturvallisuus pienissä yrityksissä sekä vertaileva tutkimus työnjohdon ja työntekijöiden työturvallisuusasenteista Suomessa ja Ruotsissa olisi hyvä tutkimuksen aihe, mikä voisi edistää hyvien käytänteiden jakamista maiden välillä.The purpose of this thesis was to make working safety material for the
students and employees who work in the field of construction in Finland and Sweden. Furthermore, the purpose was to describe and compare working safety statistics and practices in these countries. This thesis was part of the ConEct-project (Economical, Ecological and Sosial Construction) where the overall aim is to establish a sustainable network between the partner schools in the program area (Finland, Norway, Russia, Sweden). One of the aims is to educate young professionals and specialists to meet the needs of working life and facilitate the work safety and the movement of labor force in the area.
The work safety material was created by collecting theoretical information about safety at work in construction field in Finland and in Sweden. The
author also visited a large work place in construction in Finland and one in Sweden. Data was collected by observation, interviews, taking photos and participating in meetings concerning work safety.
The material in this thesis consisted of law and history in working safety,
accidents at work and the statistics of the accidents. In addition, the
responsibilities of the employer and the employee were described. It was
difficult to compare the statistics, because the countries seemed to have
different practices in documentation. In large enterprises and organizations the work safety is often well organized, e.g. the introduction of the employees and the follow up of the accidents. The working safety in small enterprises and a comparative study about the attitudes towards work safety in Finland and in Sweden could be one of the research areas in the future. This may enhance the transfer of good practices between the countries
Factors influencing teachers' self-efficacy on inclusive music education
No full textAbstract
This study investigated how teachers’ attitudes towards inclusive education and support from school management and community are related to their self-efficacy in the context of inclusive music education. Participants (n = 185) were teachers from Finnish comprehensive schools (Grades 1–9). They answered three questionnaires: the Teacher Efficacy for Inclusive Practice scale, the Attitudes towards Inclusion scale, and the School Climate for Inclusive Music Education scale. Using linear regression analysis, we found that the more positive the feelings towards inclusive music classes were, the stronger the teacher’s self-efficacy was in inclusive instructions, collaboration, and managing behaviour. Moreover, the more substantial the experienced support from the school community was, the stronger the teachers’ self-efficacy was in collaboration. However, beliefs on inclusive education and perceived support from school management did not show significant effects on teacher self-efficacy in inclusive music education. These findings highlight the importance of music teachers gaining positive experience in inclusive education. This implies the crucial need for sufficient training for inclusive settings and ensuring that the environment and starting points are adequate for teaching and learning music in the classroom. Results also show the impact of the school community on success when implementing inclusive music education.Abstract
This study investigated how teachers’ attitudes towards inclusive education and support from school management and community are related to their self-efficacy in the context of inclusive music education. Participants (n = 185) were teachers from Finnish comprehensive schools (Grades 1–9). They answered three questionnaires: the Teacher Efficacy for Inclusive Practice scale, the Attitudes towards Inclusion scale, and the School Climate for Inclusive Music Education scale. Using linear regression analysis, we found that the more positive the feelings towards inclusive music classes were, the stronger the teacher’s self-efficacy was in inclusive instructions, collaboration, and managing behaviour. Moreover, the more substantial the experienced support from the school community was, the stronger the teachers’ self-efficacy was in collaboration. However, beliefs on inclusive education and perceived support from school management did not show significant effects on teacher self-efficacy in inclusive music education. These findings highlight the importance of music teachers gaining positive experience in inclusive education. This implies the crucial need for sufficient training for inclusive settings and ensuring that the environment and starting points are adequate for teaching and learning music in the classroom. Results also show the impact of the school community on success when implementing inclusive music education
Combining ability and heterosis of algerian saharan maize populations (Zea mays l.) for tolerance to no-nitrogen fertilization and drought
No full textDrought and low nitrogen are major stresses for maize (Zea mays L.), and maize populations from the Sahara Desert are potential sources of stress tolerance. The objectives were to assess the tolerance and varietal and heterosis effects of Algerian populations under no-nitrogen fertilization and water stress. A diallel among six Algerian maize population was evaluated under drought (300 mm irrigation) vs. control (600 mm) and no-nitrogen fertilization vs. 120 kh ha N fertilization. Genotypes showed significant differences and genetic effects for water-and nitrogen-stress tolerance. We propose a reciprocal recurrent selection to take advantage of additive and non-additive effects, using AOR and IGS, since they showed good performance in optimum and stress conditions, for improving yield heterosis for AOR × IGS. Negative effects are not expected on plant height, anthesis– silking interval or early vigor. These populations and BAH could be sources of inbred lines tolerant to drought and no-nitrogen fertilization. There was no relationship between origin and genetic group and stress tolerance per se or as parents of tolerant crosses. These populations and crosses could be used as base material among Algerian populations, for breeding programs focusing on tolerance to water or nitrogen stress.This research was funded by École Nationale Supérieure Agronomique d’Alger, and the
Spanish Ministerio de Innovación y Universidades (MCIU), the Agencia Estatal de Investigación (AEI)
and the European Fund for Regional Development (FEDER), UE (project code PID2019-108127RB-I00
Collagen XIII in lung physiology and fibrosis, and thyroid-associated ophthalmopathy
No full textAbstract
Collagen XIII is a homotrimeric transmembrane collagen encoded by the COL13A1 gene. It features a furin cleavage site near the cell membrane where the extracellular part can be shed into the extracellular matrix. The shed ectodomain has interactions with other extracellular matrix components such as nidogen 2, perlecan and collagen-binding integrins.
Mutations in the COL13A1 gene cause congenital myasthenic syndrome 19 in which the development of neuromuscular junctions is severely impaired. In addition to severe muscle weakness, the patients present with breathing difficulties and a restricted vital capacity of the lung. Thus, one of the aims of this thesis was to investigate the role of collagen XIII in pulmonary physiology and also in the development of restrictive lung disease i.e., pulmonary fibrosis. Collagen XIII expression was found in basement membranes surrounding alveolar fibroblasts, yet the lungs of collagen XIII knockout mice were found normal in structure. However, lung function tests uncovered distinct abnormalities in lung volume and extendibility of the chest cage, suggesting a manifestation of the myasthenic phenotype of the mice. In human pulmonary fibrosis patients, collagen XIII was highly expressed in specific disease-associated structures, including hyperplastic epithelial cells. Similarly, immunostainings showed an increase in expression in the bleomycin mouse model of pulmonary fibrosis, but the extent of fibrosis was unchanged in the Col13a1-modified mice. In addition, insufficient information was found about the normalisation of real-time quantitative PCR in the bleomycin model and therefore the most suitable reference genes were determined experimentally.
Another goal of this doctoral study was to investigate the role of collagen XIII in thyroid-associated ophthalmopathy (TAO). Previously, autoantibodies against collagen XIII were discovered in TAO and their presence was found to correlate with disease activity. Thus, the expression of collagen XIII was evaluated in tissues of the orbit and the thyroid. In the orbit, collagen XIII expression was found in extraocular muscles and blood vessels of orbital connective tissue and fat. In the thyroid, the expression of collagen XIII varied between samples and correlated with TGFB1. In a subsequent experiment, TGF-β1 appeared to induce collagen XIII expression in thyroid epithelial cells. Original papers Norman, O., Koivunen, J., Kaarteenaho, R., Salo, A. M., Mäki, J. M., Myllyharju, J., Pihlajaniemi, T., & Heikkinen, A. (2023). Contribution of collagen XIII to lung function and development of pulmonary fibrosis. BMJ Open Respiratory Research, 10(1), e001850. https://doi.org/10.1136/bmjresp-2023-001850 https://doi.org/10.1136/bmjresp-2023-001850 Self-archived version Norman, O., Koivunen, J., Mäki, J. M., Pihlajaniemi, T., & Heikkinen, A. (2022). Identification of suitable reference genes for normalization of reverse transcription quantitative real-time PCR (RT-qPCR) in the fibrotic phase of the bleomycin mouse model of pulmonary fibrosis. PLOS ONE, 17(10), e0276215. https://doi.org/10.1371/journal.pone.0276215 https://doi.org/10.1371/journal.pone.0276215 Self-archived version Norman, O., Vornanen, T., Franssila, H., Liinamaa, J., Karvonen, E., Kotkavaara, T., Pohjanen, V.-M., Ylikärppä, R., Pihlajaniemi, T., Hurskainen, M., & Heikkinen, A. (2024). Expression of collagen XIII in tissues of the thyroid and orbit with relevance to thyroid-associated ophthalmopathy. Investigative Opthalmology & Visual Science, 65(4), 6. https://doi.org/10.1167/iovs.65.4.6 https://doi.org/10.1167/iovs.65.4.6 Self-archived version Tiivistelmä
Kollageeni XIII on solukalvokollageeni, jota koodaa COL13A1-geeni. Solunulkoisen osan juuressa on sekvenssi, josta solunulkoinen osa voidaan entsymaattisesti irrottaa solukalvolta soluvälitilaan. Katkaistun solunulkoisen osan on havaittu sitoutuvan tiettyihin soluvälitilan proteiineihin ja kollageeneja sitoviin integriinireseptoreihin.
COL13A1-geenin toiminnan estävät mutaatiot johtavat tyypin 19 synnynnäiseen myasteeniseen oireyhtymään, jossa hermo-lihasliitosten kehitys on häiriintynyt, mikä johtaa vaikeaan lihasheikkouteen, hengitysvaikeuksiin ja alentuneeseen keuhkojen vitaalikapasiteettiin. Tästä syystä yhdeksi tutkimuskohteeksi valikoitui kollageeni XIII:n ilmeneminen ja funktio keuhkojen fysiologiassa ja restriktiivisessä keuhkosairaudessa eli keuhkofibroosissa. Kollageeni XIII:n havaittiin ilmenevän alveolaarisia fibroblasteja ympäröivissä tyvikalvoissa. Poistogeenisten hiirten keuhkot olivat rakenteeltaan normaalit, mutta hiirten keuhkofunktiossa havaittiin hengityslihasten heikkouteen viittaavia poikkeavuuksia keuhkojen tilavuudessa ja rintakehän laajenemisessa. Keuhkofibroosipotilasnäytteissä todettiin kollageeni XIII:n ilmenevän erityisen voimakkaasti tautispesifisissä hyperplastisissa epiteelisoluissa. Keuhkofibroosin kokeellisessa hiirimallissa immunovärjäyksissä todettiin ilmenemisen olevan voimakkaampaa fibroottisissa kohdissa, mutta kollageeni XIII-poistogeenisissä hiirissä fibroosin laajuus ei eronnut villityypistä. Lisäksi tutkimuksessa käytettyä keuhkofibroosimallia varten määritettiin sopivimmat referenssigeenit kvantitatiivisen polymeraasiketjureaktion normalisointia varten.
Tässä väitöstutkimuksessa tutkittiin myös kollageeni XIII:n merkitystä Basedowin taudin silmäoireyhtymässä. Oireyhtymää sairastavien potilaiden verestä on aiemmin löytynyt kollageeni XIII-autovasta-aineita ja niiden on havaittu korreloivan taudin aktiivisuuden kanssa. Kollageeni XIII:n ilmenemistä selvitettiin silmäkuopan kudoksista ja Basedowin taudin tai struuman vuoksi poistetuista kilpirauhasista. Ilmenemistä havaittiin silmänliikuttajalihaksissa ja silmäkuopan sidekudoksen ja rasvan verisuonissa. Struumapotilailla kilpirauhasen kollageeni XIII:n ilmenemistaso vaihteli huomattavasti ja ilmenemistason todettiin korreloivan TGFB1-tason kanssa. Jatkotutkimuksissa havaittiin TGF-β1:n indusoivan kollageeni XIII:n ilmenemistä kilpirauhasen epiteelisoluissa. Osajulkaisut Norman, O., Koivunen, J., Kaarteenaho, R., Salo, A. M., Mäki, J. M., Myllyharju, J., Pihlajaniemi, T., & Heikkinen, A. (2023). Contribution of collagen XIII to lung function and development of pulmonary fibrosis. BMJ Open Respiratory Research, 10(1), e001850. https://doi.org/10.1136/bmjresp-2023-001850 https://doi.org/10.1136/bmjresp-2023-001850 Rinnakkaistallennettu versio Norman, O., Koivunen, J., Mäki, J. M., Pihlajaniemi, T., & Heikkinen, A. (2022). Identification of suitable reference genes for normalization of reverse transcription quantitative real-time PCR (RT-qPCR) in the fibrotic phase of the bleomycin mouse model of pulmonary fibrosis. PLOS ONE, 17(10), e0276215. https://doi.org/10.1371/journal.pone.0276215 https://doi.org/10.1371/journal.pone.0276215 Rinnakkaistallennettu versio Norman, O., Vornanen, T., Franssila, H., Liinamaa, J., Karvonen, E., Kotkavaara, T., Pohjanen, V.-M., Ylikärppä, R., Pihlajaniemi, T., Hurskainen, M., & Heikkinen, A. (2024). Expression of collagen XIII in tissues of the thyroid and orbit with relevance to thyroid-associated ophthalmopathy. Investigative Opthalmology & Visual Science, 65(4), 6. https://doi.org/10.1167/iovs.65.4.6 https://doi.org/10.1167/iovs.65.4.6 Rinnakkaistallennettu versio Academic dissertation to be presented with the assent of the Doctoral Programme Committee of Health and Biosciences of the University of Oulu for public defence in the Leena Palotie auditorium (101A) of the Faculty of Medicine (Aapistie 5 A), on 9 August 2024, at 12 noonAbstract
Collagen XIII is a homotrimeric transmembrane collagen encoded by the COL13A1 gene. It features a furin cleavage site near the cell membrane where the extracellular part can be shed into the extracellular matrix. The shed ectodomain has interactions with other extracellular matrix components such as nidogen 2, perlecan and collagen-binding integrins.
Mutations in the COL13A1 gene cause congenital myasthenic syndrome 19 in which the development of neuromuscular junctions is severely impaired. In addition to severe muscle weakness, the patients present with breathing difficulties and a restricted vital capacity of the lung. Thus, one of the aims of this thesis was to investigate the role of collagen XIII in pulmonary physiology and also in the development of restrictive lung disease i.e., pulmonary fibrosis. Collagen XIII expression was found in basement membranes surrounding alveolar fibroblasts, yet the lungs of collagen XIII knockout mice were found normal in structure. However, lung function tests uncovered distinct abnormalities in lung volume and extendibility of the chest cage, suggesting a manifestation of the myasthenic phenotype of the mice. In human pulmonary fibrosis patients, collagen XIII was highly expressed in specific disease-associated structures, including hyperplastic epithelial cells. Similarly, immunostainings showed an increase in expression in the bleomycin mouse model of pulmonary fibrosis, but the extent of fibrosis was unchanged in the Col13a1-modified mice. In addition, insufficient information was found about the normalisation of real-time quantitative PCR in the bleomycin model and therefore the most suitable reference genes were determined experimentally.
Another goal of this doctoral study was to investigate the role of collagen XIII in thyroid-associated ophthalmopathy (TAO). Previously, autoantibodies against collagen XIII were discovered in TAO and their presence was found to correlate with disease activity. Thus, the expression of collagen XIII was evaluated in tissues of the orbit and the thyroid. In the orbit, collagen XIII expression was found in extraocular muscles and blood vessels of orbital connective tissue and fat. In the thyroid, the expression of collagen XIII varied between samples and correlated with TGFB1. In a subsequent experiment, TGF-β1 appeared to induce collagen XIII expression in thyroid epithelial cells.Tiivistelmä
Kollageeni XIII on solukalvokollageeni, jota koodaa COL13A1-geeni. Solunulkoisen osan juuressa on sekvenssi, josta solunulkoinen osa voidaan entsymaattisesti irrottaa solukalvolta soluvälitilaan. Katkaistun solunulkoisen osan on havaittu sitoutuvan tiettyihin soluvälitilan proteiineihin ja kollageeneja sitoviin integriinireseptoreihin.
COL13A1-geenin toiminnan estävät mutaatiot johtavat tyypin 19 synnynnäiseen myasteeniseen oireyhtymään, jossa hermo-lihasliitosten kehitys on häiriintynyt, mikä johtaa vaikeaan lihasheikkouteen, hengitysvaikeuksiin ja alentuneeseen keuhkojen vitaalikapasiteettiin. Tästä syystä yhdeksi tutkimuskohteeksi valikoitui kollageeni XIII:n ilmeneminen ja funktio keuhkojen fysiologiassa ja restriktiivisessä keuhkosairaudessa eli keuhkofibroosissa. Kollageeni XIII:n havaittiin ilmenevän alveolaarisia fibroblasteja ympäröivissä tyvikalvoissa. Poistogeenisten hiirten keuhkot olivat rakenteeltaan normaalit, mutta hiirten keuhkofunktiossa havaittiin hengityslihasten heikkouteen viittaavia poikkeavuuksia keuhkojen tilavuudessa ja rintakehän laajenemisessa. Keuhkofibroosipotilasnäytteissä todettiin kollageeni XIII:n ilmenevän erityisen voimakkaasti tautispesifisissä hyperplastisissa epiteelisoluissa. Keuhkofibroosin kokeellisessa hiirimallissa immunovärjäyksissä todettiin ilmenemisen olevan voimakkaampaa fibroottisissa kohdissa, mutta kollageeni XIII-poistogeenisissä hiirissä fibroosin laajuus ei eronnut villityypistä. Lisäksi tutkimuksessa käytettyä keuhkofibroosimallia varten määritettiin sopivimmat referenssigeenit kvantitatiivisen polymeraasiketjureaktion normalisointia varten.
Tässä väitöstutkimuksessa tutkittiin myös kollageeni XIII:n merkitystä Basedowin taudin silmäoireyhtymässä. Oireyhtymää sairastavien potilaiden verestä on aiemmin löytynyt kollageeni XIII-autovasta-aineita ja niiden on havaittu korreloivan taudin aktiivisuuden kanssa. Kollageeni XIII:n ilmenemistä selvitettiin silmäkuopan kudoksista ja Basedowin taudin tai struuman vuoksi poistetuista kilpirauhasista. Ilmenemistä havaittiin silmänliikuttajalihaksissa ja silmäkuopan sidekudoksen ja rasvan verisuonissa. Struumapotilailla kilpirauhasen kollageeni XIII:n ilmenemistaso vaihteli huomattavasti ja ilmenemistason todettiin korreloivan TGFB1-tason kanssa. Jatkotutkimuksissa havaittiin TGF-β1:n indusoivan kollageeni XIII:n ilmenemistä kilpirauhasen epiteelisoluissa
Genetics of Germination and Seedling Traits under Drought Stress in a MAGIC Population of Maize
No full textDrought is one of the most detrimental abiotic stresses hampering seed germination, development, and productivity. Maize is more sensitive to drought than other cereals, especially at seedling stage. Our objective was to study genetic regulation of drought tolerance at germination and during seedling growth in maize. We evaluated 420 RIL with their parents from a multi-parent advanced generation inter-cross (MAGIC) population with PEG-induced drought at germination and seedling establishment. A genome-wide association study (GWAS) was carried out to identify genomic regions associated with drought tolerance. GWAS identified 28 and 16 SNPs significantly associated with germination and seedling traits under stress and well-watered conditions, respectively. Among the SNPs detected, two SNPs had significant associations with several traits with high positive correlations, suggesting a pleiotropic genetic control. Other SNPs were located in regions that harbored major QTLs in previous studies, and co-located with QTLs for cold tolerance previously published for this MAGIC population. The genomic regions comprised several candidate genes related to stresses and plant development. These included numerous drought-responsive genes and transcription factors implicated in germination, seedling traits, and drought tolerance. The current analyses provide information and tools for subsequent studies and breeding programs for improving drought tolerance.This research was funded by the École Nationale Supérieure Agronomique; PRIMA, a program supported by the European Union under H2020 framework programme; and Spanish Ministerio de Innovación y Universidades (MCIU), the Agencia Estatal de Investigación (AEI) and the European Fund for Regional Development (FEDER), UE (project code PID2019-108127RB-I00). Financial support has been also provided by PRIMA, a program supported by the European Union under the H2020 framework programme and by the project IN607A2021/07 from Xunta de Galicia.Peer reviewe
