Dissertations / Theses on the topic 'Etudes phénotypiques'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the top 46 dissertations / theses for your research on the topic 'Etudes phénotypiques.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Browse dissertations / theses on a wide variety of disciplines and organise your bibliography correctly.
Boutellis, Amina. "Etudes des variations phénotypiques et génotypiques des poux de tête et des poux de corps de l'homme." Thesis, Aix-Marseille, 2013. http://www.theses.fr/2013AIXM5036.
Lice are effective markers for studying human evolution because they have been parasitizing humans since the emergence of our hominid ancestors and have been dispersed throughout the world by early human migrations. Human head and body lice have been studied morphologically for a long time. Head lice live and lay their eggs in human hair. Body lice live and lay their eggs in clothes, are associated with poor hygiene in clothing and are responsible for the transmission of epidemic typhus, trench fever and relapsing fever. One aim of my thesis was to increase the knowledge of human head lice and body lice for a better control. It is critical to determine if head lice and body lice are allopatric, with distinct epidemiology, or if they might exist in sympatry. Then, mitochondrial DNA studies have shown that there are three clearly divergent clades of head lice (A, B and C) and that only one clade of body lice is shared with head lice (clade A). Each clade has a unique geographic distribution. During the thesis work, extensive literature survey was done to write a review. Then we aimed to establish a molecular tool in order to distinguish between head and body lice. We found that only one gene (Phum_PHUM540560 gene) was able to differentiate the two ecotypes of Pediculus humanus. Moreover, we aimed to estimate the correlation between phenotypes and genotypes among human lice, and we found that the lice phylogeny (based on intergenic spacers) was correlated to the geographic origin of lice, but no correlation between the color and the phylogeny
Ordonez, Laurence. "Etudes phénotypiques et fonctionnelles des sous-populations T CD45RC chez l'homme : implication dans le rejet de greffe et dans l'auto-immunité." Toulouse 3, 2009. http://thesesups.ups-tlse.fr/587/.
During my PhD, I have shown that CD45RC expression allows the segregation of human CD4 and CD8 T cells in functionally different subsets. In the context of autoimmune diseases, we have shown that patients affected by ANCA vasculitis have a higher proportion of T cells expressing low amount of CD45RC (CD45RClow). Interestingly, this population produce cytokines involved in this pathology, in particular IL-17. However, in the context of kidney transplantation, we have shown that the rejection incidence is higher in recipients with a high proportion of CD45RChigh CD8 T cells before transplantation. These results suggest that CD45RChigh T cells contain cells responsible for graft rejection. Therefore, the expression level of CD45RC can be used as a diagnostic tool to predict graft rejection in order to decrease the immunosuppressive treatments
Leconte, Mahaut. "Etude phénotypique des cellules endométriosiques profondes." Phd thesis, Université René Descartes - Paris V, 2012. http://tel.archives-ouvertes.fr/tel-00832636.
Savary, Océane. "Etude génétique et phénotypique de Bisifusarium domesticum." Thesis, Brest, 2021. https://tel.archives-ouvertes.fr/tel-03789622.
Bisifusarium domesticum is a cheese associated mold used for its organoleptic properties during Saint-Nectaire and Reblochon production and/or for its “anticollanti” property to prevent cheese stickiness. Despite this frequent use during cheese-making and its prevalence on various cheeses, there is a major lack of scientific knowledge about this species. This PhD project aimed at filling this gap. To do so, a B. domesticum collection (n=25) was created and an unexpected diversity of Fusarium sensu lato isolates was observed which led to the description of four new fungal species (B.allantoides, B. penicilloides, Longinectria lagenoides and L. verticilliforme), including two belonging to a new genus. Low intraspecific genetic diversity among B. domesticum isolates was noted. Then, the adaptation of B. domesticum as well as the novel species to cheese was studied and growth characteristics compatible with cheese-making conditions (temperature, aw, NaCl, growth on cheese), lipolytic and proteolytic abilities of some isolates were favored by temperatures similar to those of ripening cellars. Also, volatile compound productions of interest were highlighted as well as several genes (e.g. siderophore, sodium transporter, sugar transported) potentially linked to adaptation to a cheese environment although further in-depth studies are needed.Finally, no known mycotoxins production or mycotoxin gene clusters were identified, reinforcing the safety status of B. domesticum
Thauvin, Christel. "Etude phénotypique, cytogénétique et moléculaire des syndromes orofaciodigitaux." Dijon, 2009. http://www.theses.fr/2009DIJOS059.
The oral-facial-digital type I syndrome (OFD I) or Papillon-Léage-Psaume syndrome belongs to the heterogeneous group of the oral-facial-digital syndromes. The OFD type I syndrome is characterised by the dominant X-linked mode of inheritance, the lethality in males and the elevated frequency of renal and cerebral abnormalities. Affected cases, mainly females, present with heretogeneous clinical features including oral, facial and digital abnormalities. Visceral (polycystic kidney disease) and cerebral (corpus callosum agenesis) malformations and mental retardation can be also associated. The gène OFD1 responsible of this affection is located at Xp22. 2-p22. 3. The protein play a role in primary cilia formation in the cells, leading to the classification of the OFD I syndrome in the group of the “ciliopathies”. The different modes of inheritance described in the OFD syndromes in the literature suggest that OFD1 is not the only one implicated because the other genes responsible of the other forms of oral-facial-digital syndromes, often following an autosomal recessive mode of inheritance, have not been yet identified. From an international large cohort of patients affected by OFD I syndrome, the aim of this work is to better describe the clinical, chromosomal and molecular data of the OFD I syndrome. Several studies will be presented: 1) a detailed clinical description of the phenotype, including particularly the renal disease from a large cohort, 2) a molecular study of the OFD1 gene by sequencing analysis on genomic DNA in this cohort, to contribute to the description of the allelic heterogeneity of the pathology and to perform phenotype-gentotype correlations, 3) a search for large genomic rearrangements of the OFD1 gene to explain the insufficient mutation detection rate by direct sequencing and to better approach the phenotype-genotype correlation, 4) a search for chromosomal imbalance by array-CGH to contribute to explain genetic heterogeneity and to try to identify new loci including potentially candidate genes for the other forms of oral-facial-digital syndromes. Some studies in process to enlarge the clinical spectrum of the OFD1 gene and to identify new genes implicated in the other oral-facial-digital syndromes will also be presented
Levy-Mozziconacci, Annie. "Etude phénotypique et génotypique de la délétion 22q11." Aix-Marseille 2, 1997. http://www.theses.fr/1997AIX22034.
Belle, Wangue Yohana Irène. "Etude phénotypique et génotypique de 27 sujets thalassodrépanocytaires." Paris 5, 1998. http://www.theses.fr/1998PA05P045.
Beylot-Barry, Marie. "Etude phénotypique et moléculaire des lymphoproliférations cutanées CD30 positives." Bordeaux 2, 1998. http://www.theses.fr/1998BOR28619.
Frossard, Christine. "Etude phénotypique du groupe "Clostridium argentinense", "Clostridium hastiforme", "Clostridium subterminale"." Paris 5, 1991. http://www.theses.fr/1991PA05P154.
Heraud, Florence. "Etude "in vitro" de la modulation phénotypique des chondrocytes articulaires humains." Paris 7, 2001. http://www.theses.fr/2001PA077204.
Nabbout, Rima. "Etude phénotypique et génotypique des convulsions fébriles et des épilepsies apparentées." Paris 6, 2003. http://www.theses.fr/2003PA066108.
Bilal, hadi. "Etude phénotypique des cellules myoépithéliales des glandes salivaires normales et tumorales." Paris 6, 2006. http://www.theses.fr/2006PA066148.
In order to characterize the salivary gland (SG) myoepithelial cells (MC) and their tumor development relationship, we reported 3 consecutive studies. First we demonstrated by immunostaining (68 SG tumors, and 6 normal samples) a p63 nuclear staining in MC and in duct basal cells (BC) among 63/68 tumors, and the absence of staining in luminal cells (pleomorphic adenomas, basal cell adenomas, adenoid cystic carcinomas, epithelial-myoepithelial carcinomas). Moreover, in mucoepidermoid carcinomas (MEC), BC, squamous and intermediate cells express p63. Likewise, BCs are reactive in Warthin tumors and oncocytomas. Next we analyzed ERK-1/ERK-2 pathway activation in MEC (57 MEC, and 37 normal samples) and examined its expression at the MC level. ERK-1/ERK-2 pathway is activated in MEC, and significantly correlated to aggressive tumor behavior. Phosphorylated ERK-1/ERK-2 is noted in MEC intermediate cells, considered as modified MCs. Finally, we studied on tissue arrays (150 pleomorphic adenomas and their normal counterpart) the expression of: PS100, actin, p63, cytokeratins: AE1/AE3, 5/6, 7, 8, 10/13, 18, 19 and 34bE12, MIB-1, MUC-1, Notch1, Jagged1 and alcian blue. Hierarchical classification-analyses allowed us to define expression profiles of the different salivary gland compartments and clustered the tumors in 2 major categories, not significantly (p=0. 1) associated with the labeling tumor index (MIB-1). Comparative study of normal compartment’s and tumor’s profile questioned MC versus BC of striated ducts function
Cuccuini, Wendy. "Etude du facteur tissulaire par les progéniteurs endothéliaux : conséquences phénotypiques en condition inflammatoire." Thesis, Reims, 2011. http://www.theses.fr/2011REIMM202/document.
Endothelial colony-forming cells (ECFCs) can be obtained from human bone marrowCD34+ cells. In spite of the essential role of the tissue factor (TF) in coagulation triggeringand angiogenesis, its expression during endothelial differentiation is not established. We showthat CD34+ cells express TF, but not TF splicing forms. ECFCs express a small amount of TFat baseline level. In contrast, ECFCs express TF high levels of TF on response to TNF-α andcan generated highly pro-coagulant microparticles. We have examined the functionalproperties induced by TNF-α stimulation. TF expression confers to ECFCs a strong thrombingeneration capacity without influencing their non-coagulant properties. We have examinedthe co-expression of the tissue factor pathway inhibitor (TFPI) and the ability of ECFCs togenerate microparticles producing metalloproteins (MMP-2, MMP-9).We have performed an evaluation of cb-ECFCs chromosomal stability during theirexpansion. We found quantitative but no structural chromosomal abnormalities. Theconsequences of our observations in the use of cell therapy in cardiovascular diseases arediscussed. We conclude that TF expression may be considered as cell differentiation marker
Dessars, Barbara. "Etude génotypique et phénotypique du Naevus Congénital, de taille moyenne et large." Doctoral thesis, Universite Libre de Bruxelles, 2008. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/210515.
Puisque les LCMN ont une propension à dégénérer en tumeur mélanomateuse (dans 2 à 5% des cas) et que leur grande taille apporte un contingent cellulaire abondant, ils représentent un bon modèle d’étude des étapes initiales de la mélanotumorigénèse. Nous disposions précisément de cultures primaires de mélanocytes établies à partir de vingt-sept cas de naevi congénitaux (24 de taille large et 3 de taille moyenne (MCMN)) curetés pour la plupart chez des enfants en période néonatale.
La première phase de ce projet a permis d’identifier un mécanisme alternatif d’activation de l’oncogène BRAF dans deux cas de LCMN. Nous avons en effet mis en évidence dans ces deux cas de LCMN une translocation chromosomique entrainant une activation constitutive de BRAF par le biais d’une perte de son domaine auto-inhibiteur. Si des mutations activatrices de BRAF sont fréquemment rencontrées dans les tumeurs mélanocytiques, elles restent rares dans les naevi congénitaux et les mélanomes survenant dans des zones non exposées au soleil. Les translocations chromosomiques décrites ici pourraient représenter un mécanisme moléculaire récurrent d’activation de l’oncogène BRAF dans ces groupes de tumeurs mélanocytiques.
La seconde phase du projet consistait à réaliser sur notre série de 27 L/MCMN des analyses caryotypiques, des analyses « mutationnelles » (pour rechercher la présence de mutations activatrices des oncogènes BRAF et NRAS) et des études d’expression différentielle.
A l’inverse de ce que l’on observe dans le mélanome malin, les anomalies chromosomiques sont rares et isolées, reflétant très probablement le caractère bénin de ces lésions.
La mutation BRAFV600E a été mise en évidence pour 4/27 CMN (15%), des mutations du gène NRAS pour 19/27 (70%), soit une situation en miroir de ce que l’on observe dans les CMN de petite taille (SCMN) et dans les naevi acquis bénins, confirmant les résultats obtenus par d’autres.
L’étude du profil d’expression transcriptionnelle révèle des dysrégulations communes à l’ensemble des échantillons naeviques, comme une franche augmentation d’expression du transcrit de l’Ostéopontine.
Le profil d’expression des échantillons de CMN BRAFV600E semble refléter une réduction de la synthèse et de la distribution de pigment et une activation de gènes impliqués dans la réponse cellulaire aux dommages à l’ADN. Comme des altérations des mécanismes de la pigmentation peuvent générer des dommages oxydatifs au niveau de l’ADN, l’activation de la réponse cellulaire aux dommages à l’ADN pourrait refléter la capacité des cellules naeviques à se protéger contre le stress cellulaire. Enfin, on observait aussi une expression élevée de gènes médiant la chimiorésistance dans différents cancers, ce qui pourrait éventuellement jouer un rôle dans l’inefficacité caractéristique et bien connue de la chimiothérapie dans le mélanome malin.
Doctorat en Sciences médicales
info:eu-repo/semantics/nonPublished
Goarin, Anne. "Etude de la variabilité phénotypique chez une souche industrielle de Penicillium Roqueforti." Paris 7, 2011. http://www.theses.fr/2011PA077193.
Penicillium roqueforti is a filamentous ascomycete fungus that is found frequently in the environment. It can cause destruction of stocks of fodder, fruit or vegetable. But it is mainly known as a closed refining of certain cheeses such as blue cheese. The strain of P. Roqueforti studied here present a phenomenon of spontaneous emergence of a variant phenotype. This phenotype is characterized by a decrease in conidiation and therefore a loss of pigmentation. When this change occurs during cheese production, it is causing a fining of poor quality. The variant form of the strain is characterized by a decrease in sporulation and loss of contact inhibition. The study of conditions of occurrence of the variant form revealed it was favored by the presence of oxygen and growth in liquid medium. It may be noted that these environmental conditions are not those encountered by P. Roqueforti in cheese production. It was highlighted that the event at the origin of this variant form is probably genetic, no event of reversal to the normal form have been observed. The study of the transcriptome of the strain revealed differences. In general a decrease in the transcription of many genes in the variant form was observed. The development of various tools of molecular biology has shown that it is possible to delete genes, we can now create genetically modified strains to further characterize the physiology of P. Roqueforti generating mutants
Mondon, Karl. "Etude phénotypique des démences extrapyramidales : apport de la neuropsychologie dans le diagnostic différentiel." Thesis, Tours, 2011. http://www.theses.fr/2011TOUR3146.
Clinical manifestations associating motor and cognitive impairment are frequently encountered and difficult for the clinician who is required to address the problem of making the correct differential diagnosis, particularly to differentiate Parkinson's disease with dementia (PDD) from Lewy bodies dementia (LBD). In this study, we examined the neuropsychological characteristics which allow us to differentiate the two disorders. In the first study, we demonstrated that visual recognition memory is disturbed differently in the two cases. In a second study, we specified the characterisstics of the modifications encountered by using the classic "cortical" and "subcortical" dementia profiles. We also showed that, in PDD, the alteration in visual recognition memory is intermediary between Alzheimer's disease and LBD. Finally, in the last part of our study, we suggest future avenues of research needed to complete our work
Manesse, Martial. "Etude phénotypique des sous-populations lymphocytaires du sang et des tonsilles chez le bovin." Montpellier 2, 1996. http://www.theses.fr/1996MON20092.
Decombeix, Isabelle. "Etude de l’adaptation aux milieux calaminaires chez Arabidopsis halleri : approche écologique, génétique et phénotypique." Thesis, Lille 1, 2011. http://www.theses.fr/2011LIL10123/document.
In the context of global changes, understanding the evolution of species, and especially local adaptation, is a major challenge. Some species are present in polluted areas where zinc, cadmium and leab are present in high and toxic concentrations (metallicolous populations, M) but also in non-polluted areas (non-metallicolous populations, NM). They are called pseudo-metallophytes and are metal tolerant, and sometimes metal hyperaccumulating. In order to understand better the adaptation of Arabidopsis halleri to polluted areas we studied M and NM populations at a local scale. Because the adaptation implies some phenotypic variations and results from the action of selective pressures we used an ecological, phenotypical and genetical approach. We showed that (1) populations differed not only by metal concentrations but also by other environmental parameters which could act as selective pressures on zinc tolerance and accumulation, (2) separating populations in M or NM groups is not adequate to study local adaptation, (3) plant responses are trait and environmental dependant, (4) the genetic architecture of zinc tolerance is a network of epistatic and additive effects and more globally (5) we suggest that the adaptation to metalliferous environments has evolved in response to a lot of selective pressures which have led to multi-tolerance to numerous ecological factors
Picard, Émilie. "Etude phénotypique et fonctionnelle des cellules NK dans un contexte de cancer et d'inflammation." Thesis, Bourgogne Franche-Comté, 2017. http://www.theses.fr/2017UBFCE022.
NK cells are innate lymphocytes involved in the recognition and elimination of infected or tumor cells. Their cytotoxic activity is finely regulated by a set of activating and inhibitory receptors. However, receptors expression and NK cell functions may be modified according to environment. Here, we were interested in NK cell-phenotype and function modulations and their relationship with CD4 T cells, in NSCLC patients and under IL-21 influence in inflammatory context. The first study highlighted an increase circulating rate of CD56dim CD16- NK cell subset concomitantly with a decrease rate of CD56dim CD16+ NK cell subset in NSCLC patients. Ex vivo analysis of NK cell phenotype highlighted a specific group of patients with an overall altered expression of NCRs and NKG2D on NK cell subsets. The main defect was the decrease of NK cells expressing NKp46 and we showed a negative correlation between the patients’ survival and NKp46+ NK cell percentage. Interestingly, NKp46 neutralization on NK cells was associated with a better antitumor CD4 T cell response. The second study showed that IL-21 promotes the differentiation of a specific NK cell subset coexpressing CD86/HLA-DR and CD86/CD30. While NK cell activation via CD30 promotes a high degranulation and IFN-γ secretion, IL-21-activated NK cells also produce MIF. This soluble factor provide costimulatory signaling during naïve CD4 T cell priming inducing the differentiation of uncommitted central memory T cells. Such HLA-DR+ MIF+ NK cells were identified in inflammatory human appendix suggesting that they could activate CD4 T cells in vivo. Altogether, these studies highlighted a different modulation of NK cell phenotype accordingg to envoronment which could impact the crossstalk NK-T celles. thus, these findings support a regulatory role of NK celles in adaptive immune responses
Cortijo, Sandra. "Etude des variations épigénétiques liées aux séquences répétées comme source de changements phénotypiques héritables chez Arabidopsis thaliana." Phd thesis, Université Paris Sud - Paris XI, 2012. http://tel.archives-ouvertes.fr/tel-00742834.
Manichanh, Chaysavanh. "Etude phénotypique et génotypique de la résistance du sixième herpesvirus humain (HHV-6) aux antiviraux." Paris 6, 2001. http://www.theses.fr/2001PA066458.
Fontaine, Fanette. "Etude de la variabilité phénotypique et de ses conséquences dans des populations clonales d'Escherichia coli." Paris 6, 2006. http://www.theses.fr/2006PA066261.
Benarroch, Louise. "Etude des facteurs génétiques de variabilité phénotypique dans les formes syndromiques d'anévrismes de l'aorte thoracique." Thesis, Sorbonne Paris Cité, 2018. http://www.theses.fr/2018USPCC339.
Marfan syndrome (MFS ; OMIM #154700) is an autosomal dominant connective tissue disorder with an estimated prevalence of 1/5000 individual. It is a multisystemic disease that affects the ocular, skeletal, and cardiovascular system as well as lung, skin, and dura. Thoracic aortic aneurysm (TAA) is the main cardiovascular feature that can lead to dissection or rupture of the aortic wall, the major life-threatening event in MFS. In most cases, MFS is due to mutation in the FBN1 gene encoding fibrillin-1, an extracellular matrix protein. MFS patients display great phenotypic variability, for age of onset as well as severity and number of clinical manifestations. However, the genetic architecture underlying this clinical variability is still unknown. A monogenic model underlies the disease initiation step. Therefore, we continue to investigate the genetic heterogeneity of the pathology. In this architecture model, new TAA genes have been sought. In this purpose, TAA families without mutation in the known genes have been explored by the WES strategy. A new candidate gene encoding a protein of the ADAMTS family has been identified and is currently under investigation. In addition, the team's work demonstrated that the severity of the disease was linked to modifying genetic factors associated with several architectures (monogenism and genotype-phenotype correlation, digenism, multifactorial model) that we continued to explore. These studies used an innovative strategy that identified several architectural models beyond genetic heterogeneity
Calvet, Loreley. "Résistance in vivo à l'irinotécan : Etude génomique et phénotypique dans un modèle de neuroblastome humain." Paris 11, 2005. http://www.theses.fr/2005PA11T024.
Veracx, Aurélie. "Etude phénotypique et génotypique du pou de tête et du pou de corps de l'homme." Thesis, Aix-Marseille, 2012. http://www.theses.fr/2012AIXM5022.
The objective of this thesis work was to increase the knowledge of human head lice and body lice. Head lice live and lay their eggs at the base of hair shaft and are found frequently in school going children. Body lice live in clothes and are usually associated with low income persons that do not have adequate clothes hygiene. Body lice are the vector of three major diseases: epidemic typhus, trench fever and relapsing fever. These blood feeding insects have been studied over the past decades to determine whether they are two ecotypes of the same species or two distinct species. Before the advent of molecular biology, taxonomical classification of lice was based on their morphology and biological activities. Although described biological differences between head lice and body lice are not always consistent, their physical separation could lead to species differentiation. However, some experimental studies have shown that in certain cases head lice could migrate to the clothes and vice versa. In the recent years many progress were made in the body louse genome sequencing, and further their phylogenetic classification. Thus, on the basis of mitochondrial DNA, human lice are classified into three phylogenetic clades: Clade A that comprise both head lice and body lice and the Clades B and C that comprise only head lice. This phylogenetic organization clustered into three clades surprisingly shows that head lice of Clade A are closer to body lice than to head lice of Clade B or C. Since body lice serve as vectors of several diseases, in view of this, it is crucial to understand human lice epidemiology
Guedj, Fayçal. "Etude des altérations phénotypiques induites par la modification du dosage génique de DYRK1A et développement de stragégies thérapeutiques." Paris 7, 2010. http://www.theses.fr/2010PA077222.
Down syndrome (DS) is the most common genetic disorder affecting 1/800 newborns. It is characterized by several phenotypic signs with a variable penetrance including alteration of the brain morphogenesis, morphology of the face and members, brachycephaly, congenital heart diseases, digestive tract malformations, an early onset of Alzheimer disease histopathological signs and a constant mental retardation with variable severity (IQ = 20-55). Construction of genotype/phenotype correlation maps in patients with partial trisomy 21 enabled the identification of DCR-1, a region of 2. 5 Mb between CBR1 and ERG associated with the apparition of 13 clinical signs of DS among which mental retardation suggesting an important role of the genes contained in this region for the DS phenotype. DYRK1A gene, localized in this region, is a good candidate gene for mental retardation associated with DS. It encodes a dual-specificity serine/threonine kinase activated via autophosphorylation on the tyrosine 321 residu and phosphorylates a myriad of protein substrates including transcription and splicing factors, proteins playing important roles in synaptic plasticity and others proteins implicated in a variety of biological functions and pathological conditions. To understand DYRK1A role in the normal development and analyze the effects of its gene dosage alteration on the brain morphogenesis and synaptic plasticity, two mouse models bearing three copies (hYac-TgDYRKl A, mBac-TgDyrkl A) and an haploinsufficient model with only one copy of this gene (Dyrkl A+/-) have been used in this study. In the first part of this work, a new transgenic mouse line containing three copies of the mouse DyrklA gene with its endogenous promoter (mBac-TgDyrklA model) has been constructed in our laboratory. DyrklA transcript and protein expression analysis in the different brain parts of adult mBac-TgDyrklA, hYac-TgDYRKIA and DyrklA+A mice revealed a gene-dosage dependent expression of DyrklA validating the use of these models in the studies of mental retardation associated with free or partial trisomy and monosomy of the chromosome 21. The seconds part of our study focused on the DyrklA gene dosage alteration impact on brain morphogenesis and neuronal and glial cell density in the somatosensory cortex (SSC) and the ventrobasal (VPL/VPM) thalamic nucleus by combining in vivo imaging, seterology and western blotting techniques. Results obtained showed that DyrklA gène dosage modification induces heterogeneous alterations of the brain morphogenesis (increased brain volume in hYac-TgDYRKIA and mBac-TgDyrklA with a more pronounced action on the thalamus/hypothalamus region) and neuronal densities (a decreased neuronal density in the SSC and an increased density in the VPL/VPM) in the different investigated régions. These morphological changes are associated with MBP (neuronal morphology marker) overproduction, FKHR (important for the cell cycle regulation) hyperphosphorylation and MAPKs signaling pathway dysregulation suggesting an important role of DyrklA in the apoptosis/proliferation balance regulation but also in the axonal growth and myelinization. Behavioral studies performed in the third part of our work highlighted an impairment of the hippocampus-dependent spatial memory, the long-term memory and the motor function in the three studied mouse lines. These behavioral phenotypes are linked to a decreased activation of CamKII observed in the hippocampus of hYac-TgDYRKIA mice, but also to an increased AKT phosphorylation in this region at postnatal day P21. Taken together, these results indicate clearly that DyrklA plays a major role in synaptogenesis and synaptic transmission regulation. Finally, a corrective strategy of the phenotypes observed in hYac-TgDYRKIA and Ts65Dn (Partial MM 16 trisomy with 104 triplicated genes including DyrklA) mice has been developed ,using two EGCG (identified as spécifie DyrklA inhibitor in vitro) based diets. Morphometric, behavioral and molecular analysis showed that EGCG is able to strongly correct the phenotypic alterations observed in hYac-TgDYRKIA and Ts6Dn mice allowing us to propose the DyrklA gene as a potential target for a therapeutic approach of the DS associated mental retardation
Bridier, Julen. "Etude de la diversité intraspécifique de l’espèce Oenococcus oeni, relation entre variabilité phénotypique et diversité génétique." Thesis, Bordeaux 2, 2011. http://www.theses.fr/2011BOR21881/document.
Oenococcus oeni is the main agent responsible for the malolactic fermentation, during the wine making process. Its adaptation to wine environment is a key step for the success of the MLF, and then for wines quality. However, there is a high phenotypic variability among the species and several strains are unable to perform MLF. The selection of the best enological strains implies starting by analyzing the diversity of O. oeni. This study has been divided in three main themes of research. Firstly, the genetic diversity has been analyzed using several approaches, MLST, REA-PFGE and presence of genetic markers. That study proved the structuration of the species in two phylogenetic groups and several subgroups, related to geographical areas. Secondly, the study of the phenotypic diversity showed that all the studied strains present a high variability and the best behavior in wine making conditions is found in those from the phylogenetic group A. Finally, a transcriptional analysis has revealed some molecular mechanisms possibly implicated in stress response in O. oeni
Sturm, Nathalie. "Etude phénotypique et fonctionnelle des lymphocytes intra-hépatiques dans l'hépatite chronique virale C et le carcinome hépatocellulaire." Phd thesis, Université de Grenoble, 2011. http://tel.archives-ouvertes.fr/tel-00649495.
Hérault, Olivier. "Etude fonctionnelle et phénotypique des effets de l'acide tout-trans rétinoi͏̈que sur les cellules CD34+ médullaires humaines." Tours, 1999. http://www.theses.fr/1999TOUR3312.
Blanchon, Sylvain. "Etude de la diversité phénotypique et génotypique des dyskinésies ciliaires primitives : vers une prise en charge personnalisée." Thesis, Paris Est, 2016. http://www.theses.fr/2016PESC0073.
Le, Nagard Hervé. "Etude de l'émergence et de l'impact de la complexité phénotypique au travers de modèles théoriques et computationnels." Paris 6, 2011. http://www.theses.fr/2011PA066518.
Bailly, Jean-Luc. "Etude de la variation phénotypique et génétique des ECHO virus, en prenant pour modèle l'ECHO virus type 25." Clermont-Ferrand 1, 1995. http://www.theses.fr/1995CLF1MM09.
Mahmoudi, Abd-elrachid. "Etude génotypique et phénotypique des polymorphismes du récepteur du complément de type 1 (CR1,CD35) dans la maladie d’Alzheimer." Thesis, Reims, 2015. http://www.theses.fr/2015REIMM201/document.
Genome-wide association studies have identified new loci, including the CR1 gene, as being associated with Alzheimer's disease (AD) risk. The complement receptor type 1 (CR1) is a transmembrane glycoprotein found on the surface of erythrocytes (CR1E), and also in the plasma in soluble form (CR1s). CR1 can have different functional forms that may confer different risk levels, or even suggest pathophysiological mechanisms of AD. Indeed, the relation between CR1 and AD is now well established, the mechanism of this association remains to be elucidated.The main objective of this thesis was to correlate acquired phenotype elements, such as density of CR1E (number of CR1 antigenic sites per erythrocyte) or CR1s with genetic data (single nucleotide polymorphisms, length and density polymorphisms). Firstly, our study showed using two different methods that AD is associated with low density of the long CR1 isoform (CR1*2) and suggested the possible existence of silent CR1 alleles. Secondly, we showed that although genetic criteria were met, some phenotypes could be acquired during the course of the disease. Our findings suggest that AD stems more from insufficient clearance of amyloid deposits than from excessive response whose inflammatory reaction might be deleterious. Although this genetic and phenotypic study with pathophysiological potential still require further investigation on a larger scale, she could pave the way towards new therapeutic avenues that currently remain elusive in the absence of a clear overview of the mechanisms involved
Noel, Florence. "Etude du fonctionnement des métapopulations en biologie de la conservation : exemple de Ranunculus nodiflorus L., espèce rare et protégée en France." Paris 6, 2006. http://www.theses.fr/2006PA066073.
Mahjoub, Mouna. "Etude de l’Implication de la voie de signalisation Notch, dans les modifications phénotypiques et histopathologiques du cartilage articulaire, au cours de l’arthrose." Paris 6, 2010. http://www.theses.fr/2010PA066072.
Wortemann, Rémi. "Etude de la variabilité génétique et de la plasticité phénotypique de la vulnérabilité à la cavitation chez Fagus sylvatica L." Phd thesis, Université Blaise Pascal - Clermont-Ferrand II, 2011. http://tel.archives-ouvertes.fr/tel-00720995.
Trossaërt, Marc. "Etude phénotypique et génotypique de patients hémophiles A modérés ou atténués avec anomalie qualitative : rapports structure / fonction du facteur VIII." Nantes, 2008. https://archive.bu.univ-nantes.fr/pollux/show/show?id=d419cf7d-5c0d-4ff8-9dc2-eb8ec96ddd97.
We measured factor VIII activity (FVIII:C) using 2 methods (one-stage chronometric and chromogenic assays) in 307 patients with moderate/mild hemophilia belonging to 173 families. Thirty-six patients from 17 (10%) families exhibited discrepancy between the two assays. Five novel FVIII mutations associated with discrepancy were described: p. Pro264Leu, p. His281Asn, p. Ile369Thr, p. Phe1785Leu and p. Phe2127Ser. Furthermore, we report on the spectrum of mutations in 130 other families with moderate/mild hemophilia A. Twenty-eight novel missense mutations and one single-residue deletion are described. We studied their putative involvement at known FVIII functional sites, their conservation status with cross-species FVIII proteins, and their spatial position within the FVIII 3D conformation. In 2 of these families (X and Y) with discrepant FVIII:C results, we examined whether thrombography (TG) could provide a better evaluation of the haemostatic status of these patients. Sixty-one moderate/mild haemophiliacs without discrepancy and 15 healthy subjects served as controls. Family X had no serious bleedings by contrast to family Y. For members of family X, the TG parameters were normal whereas for those of family Y they were diminished, similar to results of moderate/mild haemophiliacs without discrepancy. These results suggest that the haemostatic phenotype assessed by TG may be clinically relevant in moderate/mild hemophilic patients with discrepant FVIII:C results
Joulié, Aurélien. "Etude de la diversité génotypique et phénotypique de la bactérie Coxiella burnetti chez les ruminants domestiques et les chevaux en France." Thesis, Université Clermont Auvergne (2017-2020), 2017. http://www.theses.fr/2017CLFAC055/document.
Q fever is a worldwide zoonosis, due to a strict intracellular bacterium: Coxiella burnetii. Domestic ruminants mainly shed the bacteria in parturition products, vaginal mucus and feces. Humans and animals infect by inhalation of circulating pseudo-spores into the environment.Public and veterinary health issues therefore motivated the implementation of this PhD project in order to better control C. burnetii infections on farms. The objectives of this thesis were to provide descriptive epidemiological findings about: (a) circulation dynamics of C. burnetii in a naturally infected flock of sheep; (b) the genotypic diversity of circulating C. burnetii strains on domestic ruminant farms in France; (c) the phenotypic diversity of these strains as demonstrated by the use of two virulence models, one in vivo and one in vitro; and (d) the involvement of horses in the epidemiology of C. burnetii, by studying their exposure and a potential symptomatology.Longitudinal follow-up in a flock of sheep provided relevant tools to rapidly assess the risk of C. burnetii transmission when a flock was identified as infected, in terms of animal pens, diagnostic tools, or sampling periods to be preferred. We also identified three main genotypic groups of circulating strains in domestic ruminant farms in France where Q fever abortion were recorded. Two genotypic groups mainly included small ruminants, with one group mainly composed of sheep and the other mainly composed of goats. The third genotypic group was comprised almost exclusively of cattle. We have shown that the IS1111 gene significantly impacts the genotypic MLVA diversity observed. In addition to this species specificity, we have shown that the circulating genotypes in France were also spatiotemporally stable. We then developed two models of infection, one in vivo by inoculating CD1 male mice in the footpad of and one in vitro by infecting two macrophage cell lines: one bovine (SV40) and one ovine (MoCl4). These two models allowed us to show that the genotypic clusters were not systematically correlated with both the four phenotypic clusters identified in vivo from the analysis of the bacterial load in the mouse spleens and the analysis in vitro of the C. burnetii multiplication kinetics.Finally, the seroprevalence observed in horses within hyperendemic areas for Q fever in humans (Camargue and Plain of La Crau) suggests that horses are exposed to the bacteria in the area and that they may be a relevant indicator of the zoonotic risk. Nevertheless, our results were inconclusive on the clinical forms associated with Q fever in horses.In the future, the findings found in our work will allow a global understanding of the circulation dynamics of C. burnetii on domestic ruminant farms as well as in others animal species. Thus, all these data will ultimately improve surveillance, diagnosis and management of Q fever in public and veterinary health
Mougari, Faïza. "Etude phénotypique et génotypique de la résistance à la clarithromycine chez Mycobacterium abscessus, de la caractérisation des isolats à la thérapeutique." Sorbonne Paris Cité, 2016. http://www.theses.fr/2016USPCC062.
This work focuses on phenotypic and genotypic characterization of clarithromycin resistance in Mycobacterium abscessus. This nontuberculous mycobacteria is causing infections in patients with chronic lung diseases, especially cystic fibrosis, and extra-respiratory diseases usually in a iatrogenic context. M abscessus is extremely resistant to most available antibiotics with no standard effective treatment so far. First, we reviewed current literature for nontuberculous mycobacteria and M abscessus infections. We studied M abscessus genotyping by a semi-automated REP-PCR DiversiLab® and showed that each patient is infected by a different strain but a cystic fibrosis patient is infected by the same strain over time. MALDI-TOF mass spectrometry (MS) study permits to distinguish subspecies of M abscessus. We studied clarithromycin resistance mechanisms for M abscessus with two approaches: one descriptive including clinical strains (we studied also resistance to other antibiotics especially amikacin, second important antibiotic), the other done through in vitro mutant selection. We described new resistance mechanisms. The majority of mutants and resistant clinical strains had mutations of 23S rRNA or in ribosomal proteins. Natural inducible resistance was due to erm(41) gene polymorphism. Knowledge of resistance mechanisms to clarithromycin and amikacin allowed us to develop a molecular diagnostic test prototype, with Hain LifeScience (GenoType NTM-DR). The clinical evaluation in our laboratory gave highly satisfactory results. This test is now commercially available. We have developed new tools for diagnosis and epidemiological surveillance of M abscessus infection
Prange, Stéphane. "Physiopathologie de l'hétérogénéité phénotypique et pronostique de la maladie de Parkinson : études de cohortes et imagerie multimodale in vivo." Thesis, Lyon, 2020. http://www.theses.fr/2020LYSE1015.
Pas de résumé en anglais
Auclair, Héloïse. "Etude des homologies phénotypiques et fonctionnelles des lymphocytes B en latence III de l'EBV avec les cellules B régulatrices, implication de l'axe PD-1/PD-L1." Thesis, Limoges, 2017. http://www.theses.fr/2017LIMO0032/document.
The Epstein-Barr virus (EBV) is the first transforming virus discovered in humans. It infects more than 90% of the global adult population, persisting in an episomal form in the memory B-cell compartment throughout the life of the host. During primo-infection and during phases of viral reactivation, immortalized B-cells are in latency III, also called the proliferation program, in which the full range of latency proteins are expressed. In immunocompetent subjects, a balance between virus and host is established, and most infected B-cells are eliminated by the host’s immune system, mainly by cytotoxic T lymphocytes. Deficit of the immune system may lead to lymphomagenesis, such as post-transplantation lymphoproliferative disorders (PTLDs), non-Hodgkin’s (NHL) or Hodgkin’s lymphomas (HL). Previous studies in the lab revealed that the immuno-inhibitor PD-L1/B7-H1/CD274 was overexpressed on the surface of EBV latency III B-cells. Interleukin-10 (IL-10was also secreted by these cells. These features are shared with regulatory B-cells (Bregs). Our objective was to examine the immunomodulatory features of EBV latency III B-cells, in the frame of Bregproperties. We found that EBV latency III B-cells possessed the antigenic determinants common to immature Bregs (CD24High CD38High PD-L1High), associated with overexpression of Breg immunosuppressive cytokines (IL-10, TGF-β1 and IL-35). EBV latency III B-cells led to death of autologous CD4 T-cells, as well as inhibition of CD4 and CD8 T-lymphocyte proliferation, favoring regulatory T-cell (Treg) expansion. We found that this expansion was mediated by the PD-1/PD-L1 axis. This study highlights a new mechanism of EBV for t diversion of the host immune system thereby increasing its oncogenic properties
Chaouni, Benabdallah Ilham. "Etude phénotypique, génotypique et fonctionnelle des lymphocytes T à récepteur gamma/delta dans la polyarthrite rhumatoi͏̈de : analyse comparative avec les lymphocytes T alpha/bêta." Montpellier 2, 1992. http://www.theses.fr/1992MON20221.
Ben, Azouna Nesrine. "Etude phénotypique et fonctionnelle des cellules souches mésenchymateuses et hématopoïétiques du sang placentaire en comparaison avec la moëlle osseuse ou le sang périphérique adulte." Thesis, Tours, 2012. http://www.theses.fr/2012TOUR3321.
The mesenchymal stem cells (MSC) are adult stem cells which are at the origin of the ostebiastic lignage cells (O), adipocytes (A) and chondrobiasts (C). The MSC are initially found in the bone marrow (BM) but it also exists there in other tissues as the umbilical cord blood (UCB).Endowed with a regenerative potential, MSC can used in diverse degenerative pathologies in a purpose of tissular repair. Besides, their immunosuppressive properties allowed to envisage their use in a purpose of immunomodulation as during the reactions of transplant against the host in allogenic hematopoietic stem cell transplants (HSC). The essential purpose of this work was to compare the characteristics of the MSC derived from the UCB in comparison to those stemming from the bone marrow (BM)
Carouge, Élisa. "Récepteur MET et fusions ETS : co-acteurs dans la progression du cancer de la prostate." Electronic Thesis or Diss., Université de Lille (2022-....), 2024. https://pepite-depot.univ-lille.fr/ToutIDP/EDBSL/2024/2024ULILS005.pdf.
Prostate cancer (PCa) has the highest incidence of all male cancers in Europe and the USA. In the advanced stages of the disease, the development of metastases (bone metastases in 80% of cases) leads to a high mortality rate. MET receptor and ETS gene fusions with a hormone-dependent promoter are important actors in the progression of prostate cancer. Among the members of the ETS family of transcription factors, ERG is found in 60% of fusions and ETV1 in 10%. MET is a tyrosine kinase receptor expressed in the advanced stages of the disease, in hormone-resistant tumours and in bone metastases. ERG and ETV1 fusions are found throughout the disease, from initiation to metastatic stages. Interestingly, there are many functional links between MET and ERG/ETV1, suggesting that they belong to the same regulatory pathway. The aim of our study is to understand the individual roles of MET receptor and ETS fusions and their collaboration in PCa progression.To this end, we built hormone-independent CaP cellular models in which MET receptor expression and activity are effective and ERG or ETV1 overexpression has been induced via retroviral infection. These models were used to perform phenotypic tests of proliferation, migration and invasion, comparative transcriptomic analysis (RNAseq) and in vivo tests in humanised mice expressing human HGF. The results we obtained show that the transcription factors ERG and ETV1 induce greater migratory and invasive capacities in vitro and that activation of the receptor signalling pathway amplifies the effects. In vivo, ERG and ETV1 induce larger tumour volumes after subcutaneous injection of the cells, and treatment with a specific MET inhibitor reverses these effects. Finally, a transcriptomic analysis comparing the different models, permits to identify genes differentially expressed according to overexpression of ERG, ETV1 and/or activation of MET pathway, signature target genes potentially involved in tumour progression.The data obtained show, for the first time, a collaboration between MET receptor and ERG/ETV1 factors to induce more aggressive characteristics in PCa models. The project aims to identify the molecular signatures of this cooperation in order to highlight prognostic, diagnostic and targeted therapy tools
Garavillon-Tournayre, Marie. "Etude de la variabilité génétique des réponses écophysiologique et moléculaire associées au transport d'eau dans la feuille de peuplier noir en carence hydrique." Thesis, Université Clermont Auvergne (2017-2020), 2017. http://www.theses.fr/2017CLFAC045/document.
In temperate climates, climate change will result in an increase of the frequency and intensity of droughts. Among the factors influencing the species survival in fluctuating environment, trait responses plasticity seems to be a major asset. This thesis has focused on the integrated study of physiological and transcriptional responses of black poplar responding to a progressive water deficit until a severe level. For an overall analysis, plant phenotypic traits responses plasticity and, for the first time, plasticity of the leaf genes expression has been estimated. Different scales of study were taken into account: genotypes from different populations, clones of the same genotype and leaf structures (midrib versus leaf blade). A continuum of phenotypic responses to severe water deficit was identified allowing classifying the majority of the genotypes as sensitive with only one tolerant genotype, maintaining its foliar development, preserving its mature leaves and limiting hydraulic tension. The leaf blade transcriptome was deeply remodeled under severe drought (41% differentially expressed transcripts) and exhibited functions related to the modification of the membrane composition, maintenance of cellular homeostasis and detoxication. Transcripts related to intra- and extra-cellular transport and water flows (by aquaporins) were also highly regulated and associated with integrity and cellular hydration functions of the leaf blade. The transcriptome modulation was in part specific to the midrib compared to the leaf blade. The 958 specifically regulated transcripts of the midrib indicated up-regulation of genes implied in glyoxylate and carbohydrates metabolisms and down-regulation of genes involved in intra- and extra-cellular transport. In consequence, these modifications may favor sugar accumulation in the midrib and could force the sap flow and limit embolism. The estimated mean phenotypic and transcriptional plasticities were different between genotypes. The number of leaves and the leaf water potential were the two traits allowing discriminating statistically the genotypes by their plasticity. The plasticity level of some genes expression was also specific to genotypes: transcriptional plasticity was high concerning genes involved in carbon fixation and transport of secondary messengers for the genotype, which on average was the least plastic. All these results allowed concluding that the most drought-tolerant genotype possessed the lowest degrees of phenotypic and transcriptional plasticities. Conversely, the most sensitive genotypes hold high phenotypic and transcriptional plasticities. Finally, the regulation of the plasticity degree would depend on both preserved mechanisms and others acquired by the genotypes
Bronnec, Vicky. "Etude de la réponse au stress oxydant chez Campylobacter jejuni : exemple de la souche aérotolérante C. Jejuni Bf : Approches phénotypique, génomique et de ChIP-Seq intégrées pour mieux comprendre l’aérotolérance de cette souche." Nantes, 2016. http://www.theses.fr/2016ONIR084F.
Campylobacter jejuni is leading cause of bacterial foodborne infections in the world. This pathogen is able to survive in various environments. From the digestive tract of poultry, its natural reservoir, to the consumer's plate, C. Jejuni must develop several mechanisms to survive in hostile environments. Biofilm formation is an adaptative strategy to survive in these environments and under aerobic conditions. A clinical strain, C. Jejuni Bf, isolated in our laboratory, has the unique feature in the species to grow aerobically. It has been used as a model to better describe the mechanisms of stress resistance in C. Jejuni