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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
11

Molecular genetics of Bardet-Biedl syndrome (BBS) in the Newfoundland population /

Young, Terry-Lynn, January 2000 (has links)
Thesis (Ph.D.)--Memorial University of Newfoundland, Faculty of Medicine, 2000. / Includes bibliographical references.
12

Bbs7 and Bbs10 Homozygosity cause Structural and Functional Deficits in Inbred Mouse Olfactory Sensory Neuronal Cilia and Postnatal Lethality

Ali, Saima 22 October 2020 (has links)
No description available.
13

Molecular basis of Bardet-Biedl syndrome caused by defects of intraflagellar transport complex IFT-B / 繊毛内タンパク質輸送複合体IFT-Bの欠陥に起因する繊毛病バルデー・ビードル症候群の発症の分子基盤

Zhou, Zhuang 26 September 2022 (has links)
京都大学 / 新制・課程博士 / 博士(薬科学) / 甲第24205号 / 薬科博第158号 / 新制||薬科||17(附属図書館) / 京都大学大学院薬学研究科薬科学専攻 / (主査)教授 中山 和久, 教授 井垣 達吏, 教授 土居 雅夫 / 学位規則第4条第1項該当 / Doctor of Pharmaceutical Sciences / Kyoto University / DFAM
14

Investigations into Neuronal Cilia Utilizing Mouse Models of Bardet-Biedl Syndrome

Berbari, Nicolas F. 18 March 2008 (has links)
No description available.
15

NGS-based approaches for the diagnosis of intellectual disability and other genetically heterogeneous developmental disorders / Approches de séquençage à haut-débit ciblé pour le diagnostic de la déficience intellectuelle et autres maladies développementales génétiquement hétérogènes

Redin, Claire 02 May 2014 (has links)
Certaines maladies héréditaires monogéniques sont caractérisées par une grande hétérogénéité génétique. Chez des individus présentant un phénotype clinique similaire, les mutations causales peuvent être retrouvées dans un des gènes parmi un sous-ensemble décrits comme impliqués dans la maladie. Cette hétérogénéité génétique limite considérablement les offres diagnostiques pour les patients, et une majorité reste sans diagnostic moléculaire. Nous avons développé une approche diagnostique alternative par séquençage à haut débit ciblé (ciblant spécifiquement les régions codantes des gènes d’intérêt par capture d’exons), au travers de trois pathologies génétiquement hétérogènes : le syndrome de Bardet-Biedl (19 gènes décrits), les leucodystrophies (50 gènes), et la déficience intellectuelle (>400 gènes). Au vu de son efficacité dans le syndrome de Bardet-Biedl et la déficience intellectuelle (80% et 25% de mutations détectées respectivement, soit des taux nettement supérieurs à ceux des méthodes précédentes), elle est depuis appliquée en routine diagnostique. Au-delà du diagnostic, cette approche permet de manière non biaisée de revoir la contribution de chacun des gènes dans la pathologie et donc d’identifier les gènes récurrents, et d’établir de nouvelles corrélations génotype/phénotype. / Some monogenic disorders are characterized by a vast genetic heterogeneity. In individuals with similar clinical phenotype, causative mutations can be found in one gene from a subset described as implicated in the disease. Such genetic heterogeneity limits considerably the diagnostic offer for the patients, and a majority is left without molecular diagnosis. We developed an alternative diagnostic approach by targeted high throughput sequencing (specific to the coding regions of genes of interest by a technique of exon capture) through three genetically heterogeneous disorders: Bardet-Biedl syndrome (19 genes reported), leukodystrophies (50 genes), and intellectual disability (>400 genes). In light of its efficiency, this approach has since been implemented in diagnostic routine for Bardet-Biedl syndrome and intellectual disability (80% and 25% of diagnostic yields respectively, significantly higher than those of previous methods). Beyond diagnosis, this approach allows unbiased means to assess the contribution of each gene in the disease and highlight recurrent genes, and establish new correlations genotype to phenotype, overall providing much insight in the genetics of a particular disease.
16

Role proteinového komplexu BBS v T lymfocytech / Role of Bardet-Biedl syndrome (BBS) protein complex in T cells

Niederlová, Veronika January 2018 (has links)
BBSome is a protein complex crucial for trafficking of specific cargoes to the primary cilium. Although primary cilia are typically not present in cells of haematopoietic origin, such as T cells, recent research has revealed striking parallels between the primary cilium and the immunological synapse. Amongst other similarities, both structures are supposed to use the same transport machinery involving Rab8 and IFT20, the close interaction partners of BBSome. The first goal of this thesis was to investigate the role of BBSome in the biology of T cells. Using RT-qPCR, we have shown that BBSome subunits are expressed in lymphoid tissues and T cells. Studies of localization of BBSome subunits in Jurkat cell line and primary OT-I T cells revealed that the subunits have distinct localization patterns with BBS4 localizing to the centrosome and BBS1, BBS5, and BBip10 having dispersed localization. After the contact with an antigen presenting cell, BBS4 re-localizes to the immunological synapse. Mutations in BBSome encoding genes cause Bardet-Biedl syndrome (BBS), a rare ciliopathy presenting with multiorganic symptoms. The second goal of this thesis was to examine the associations between BBS and the immune system. Examination of medical records of more than 450 BBS patients revealed that autoimmune...
17

Cilia Associated Signaling in Adult Energy Homeostasis

Bansal, Ruchi 05 1900 (has links)
Indiana University-Purdue University Indianapolis (IUPUI) / Primary cilia are solitary cellular appendages that function as signaling centers for cells in adult energy homeostasis. Here in chapter 1, I introduce cilia and how dysfunction of these conserved organelles results in ciliopathies, such as Bardet-Biedl Syndrome (BBS), which present with childhood obesity. Furthermore, conditional loss of primary cilia from neurons in the hypothalamus leads to hyperphagia and obesity in mouse models of ciliopathies. Classically, cilia coordinate signaling often through specific G-protein coupled receptors (GPCRs) as is the case in both vision and olfaction. In addition, neurons throughout the brain including hypothalamic neurons possess primary cilia whose dysfunction contributes to ciliopathy-associated obesity. How neuronal cilia regulate the signaling of GPCRs remains unclear and many fundamental cell biology questions remain about cilia mediated signaling. For example, how cilia coordinate signaling to influence neuronal activity is unknown. To begin to address some of these cell biology questions around neuronal cilia, chapter 2, describes the development and use of a system for primary neuronal cultures from the hypothalamus. Using this system, we found that activation of the cilia regulated hedgehog pathway, which is critical in development, influenced the ability of neurons to respond to GPCR ligands. This result highlights the role of the developmentally critical hedgehog pathway on terminally differentiated hypothalamic neurons. One challenge facing the cilia field is our ability to assess cilia in large numbers without potential bias. This is especially true in tissues like the brain, where cilia appear to have region-specific characteristics. Work included in Chapter 3 describes the use of a computer-assisted artificial intelligence (Ai) approach to analyze cilia composition and morphology in a less biased and high throughput manner. Cilia length and intensities are important parameters for evaluation of cilia signaling. Evidence suggests that activation of some ciliary GPCRs results in shortening of cilia whereas deviations from normal cilia length in mutant phenotypes affects normal physiological processes such as decreased mucociliary clearance. Therefore, to analyze a large number of cilia, we describe the use of the Ai module from in vitro and in vivo samples in a reproducible manner that minimizes user bias. Using this approach, we identified that Mchr1 expression is significantly stronger in the cilia of paraventricular nucleus than that in the arcuate nucleus of adult mice. Work in Chapter 4 continues to explore the integration between hedgehog pathway and ciliary GPCR signaling in the central nervous system, and its relevance with energy homeostasis. We evaluated the hedgehog ligand in the plasma of mice in acute and long-term metabolic changes and identified that the activity of the ligand changed under altered metabolic conditions. We also developed a genetic mouse model where hedgehog signaling was constitutively active in neuronal cilia. These mice become hyperphagic and obese. These results further emphasize the potential role of the hedgehog signaling pathway in regulation of feeding behavior in adult vertebrates. Overall, results from this work will provide a better understanding of the defects not only underlying ciliopathy-associated obesity but may also reveal more common mechanisms of centrally mediated obesity. In addition, the tools I have developed will help in understanding how neuronal cilia are used for intercellular communications and ultimately how they regulate behaviors like feeding.
18

Characterization of Neuronal Primary Cilia in Cellular Homeostasis and Disease

Green, Jill A. 18 December 2012 (has links)
No description available.
19

Identification de nouveaux gènes dans le Syndrome de Bardet-Biedl : corrélations génotype-phénotype / Identification of new genes in Bardet-Biedl Syndrome : genotype-phenotype correlations

Schaefer, Elise 19 September 2017 (has links)
Le syndrome de Bardet-Biedl (BBS) est une ciliopathie syndromique associant une rétinopathie pigmentaire, une polydactylie post-axiale, une obésité, un hypogonadisme, des anomalies rénales et des troubles des apprentissages. Le cil primaire est présent à la surface de la quasi totalité des cellules de l’organisme et joue un rôle d’antenne cellulaire captant les signaux extérieurs pour les transmettre à la cellule. A ce jour 21 gènes BBS ont été identifiés codant des protéines ayant une fonction ciliaire. Au cours de ce travail, nous avons identifié 3 nouveaux gènes BBS (SDCCAG8/BBS16, LZTFL1/BBS17, BBIP1/BBS18) et confirmé l’implication de IFT172/BBS20. Nous avons également établi des corrélations génotype-phénotype : absence de polydactylie et insuffisance rénale associées aux mutations dans BBS16 ; polydactylie mésoaxiale et atteinte rénale associées aux mutations dans BBS17 ; possible association d’une polydactylie préaxiale aux mutations dans BBS20. Enfin, nous décrivons sur le plan clinique et moléculaire la plus grande cohorte de patients BBS à partir d’une base de données clinico-biologique mise en place au cours de ce travail. / Bardet-Biedl syndrome (BBS) is a syndromic ciliopathy associating with retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies and learning difficulties. The primary cilium is antenna-like structure at the surface of the cell. 21 BBS genes are identified and the corresponding proteins are related to primary cilium structure and function. In this study, we identified 3 new BBS genes (SDCCAG8/BBS16, LZTFL1/BBS17, BBIP1/BBS18) and we confirmed the implication of IFT172/BBS20 in this syndrome. We also established strong genotype-phenotype correlations: absence of polydactyly and early renal failure in SDCCAG8/BBS16 patients; mesoaxial polydactyly and early renal failure in LZTFL1/BBS17 patients; possible preaxial polydactyly in IFT172/BBS20 patients. Finally, we reported the molecular and clinical description of the largest BBS cohort thanks to the clinical and biological database created in the Laboratory.
20

Mécanismes physiopathologies de la dégénérescence rétinienne dans le syndrome de Bardet-Biedl / Physiopathological mechanisms of retinal degeneration in the Bardet-Biedl syndrom

Mockel, Anaïs 13 September 2012 (has links)
Le syndrome de Bardet-Biedl (BBS) est considéré comme l’une des causes les plus fréquentes de rétinopathie pigmentaire dite syndromique. Il a été démontré une connexion entre les protéines BBS et les structures du cil primaire. Le cil primaire est un organelle formé par une fine évagination de la membrane plasmique soutenu par une ossature de microtubules. Dans la rétine, le photorécepteur (PR) est une cellule ciliaire composée d’un segment interne et d’un segment externe reliés par un cil primaire modifié. Au cours de ce travail, nous avons mis en évidence que le stress du réticulum endoplasmique est à l’origine du processus apoptotique car un défaut ciliaire dans le PR entraine l’accumulation de protéines dans le segment interne et déclenche une réponse au stress cellulaire appelé unfolded protein response. Nous avons développé un traitement pharmacologique modulant ce stress cellulaire afin de ralentir l’apoptose des PR dans un modèle murin BBS. Cette approche pharmacologique a montré son efficacité dans le maintien et la fonctionnalité des PR. Elle pourrait potentiellement être applicable à d’autres ciliopathies rétiniennes. / Bardet-Biedl syndrome (BBS) is one of the most frequent cause of syndromic retinitis pigmentosa. BBS proteins are related to primary cilium structure and function. The primary cilium is microtubule-based antenna-like structure at the surface of the cell. In the retina, the photoreceptor (PR) is a ciliated cell composed of an inner and an outer segment linked by a modified primary cilium. In this study, we demonstrated that endoplasmic reticulum stress induces unfolded protein response due to protein accumulation in the inner segment in case of ciliary defect in the PR leading to apoptosis. We designed a pharmacological treatment to alleviate PR apoptosis in a BBS mouse model. This pharmacological approach was efficient to protect PR from apoptosis and maintain their functionality. This treatment could be applicable to others retinal ciliopathies.

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