Academic literature on the topic 'Tbx16'
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Journal articles on the topic "Tbx16"
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Lardelli, Michael. "The evolutionary relationships of zebrafish genes tbx6 , tbx16 / spadetail and mga." Development Genes and Evolution 213, no. 10 (October 1, 2003): 519–22. http://dx.doi.org/10.1007/s00427-003-0348-2.
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Wells, Simon, Svanhild Nornes, and Michael Lardelli. "Transgenic Zebrafish Recapitulating tbx16 Gene Early Developmental Expression." PLoS ONE 6, no. 6 (June 24, 2011): e21559. http://dx.doi.org/10.1371/journal.pone.0021559.
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Payumo, Alexander Y., Lindsey E. McQuade, Whitney J. Walker, Sayumi Yamazoe, and James K. Chen. "Tbx16 regulates hox gene activation in mesodermal progenitor cells." Nature Chemical Biology 12, no. 9 (July 4, 2016): 694–701. http://dx.doi.org/10.1038/nchembio.2124.
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Muyskens, Jonathan B., and Charles B. Kimmel. "Tbx16 cooperates with Wnt11 in assembling the zebrafish organizer." Mechanisms of Development 124, no. 1 (January 2007): 35–42. http://dx.doi.org/10.1016/j.mod.2006.09.003.
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Warga, Rachel M., Rachel L. Mueller, Robert K. Ho, and Donald A. Kane. "Zebrafish Tbx16 regulates intermediate mesoderm cell fate by attenuating Fgf activity." Developmental Biology 383, no. 1 (November 2013): 75–89. http://dx.doi.org/10.1016/j.ydbio.2013.08.018.
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Nagel, Stefan, and Corinna Meyer. "Establishment of the TBX-code reveals aberrantly activated T-box gene TBX3 in Hodgkin lymphoma." PLOS ONE 16, no. 11 (November 22, 2021): e0259674. http://dx.doi.org/10.1371/journal.pone.0259674.
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T-box genes encode transcription factors which control basic processes in development of several tissues including cell differentiation in the hematopoietic system. Here, we analyzed the physiological activities of all 17 human T-box genes in early hematopoiesis and in lymphopoiesis including developing and mature B-cells, T-cells, natural killer (NK)-cells and innate lymphoid cells. The resultant expression pattern comprised six genes, namely EOMES, MGA, TBX1, TBX10, TBX19 and TBX21. We termed this gene signature TBX-code which enables discrimination of normal and aberrant activities of T-box genes in lymphoid malignancies. Accordingly, expression analysis of T-box genes in Hodgkin lymphoma (HL) patients using a public profiling dataset revealed overexpression of EOMES, TBX1, TBX2, TBX3, TBX10, TBX19, TBX21 and TBXT while MGA showed aberrant downregulation. Analysis of T-cell acute lymphoid leukemia patients indicated aberrant overexpression of six T-box genes while no deregulated T-box genes were detected in anaplastic large cell lymphoma patients. As a paradigm we focused on TBX3 which was ectopically activated in about 6% of HL patients analyzed. Normally, TBX3 is expressed in tissues like lung, adrenal gland and retina but not in hematopoiesis. HL cell line KM-H2 expressed enhanced TBX3 levels and was used as an in vitro model to identify upstream regulators and downstream targets in this malignancy. Genomic studies of this cell line showed focal amplification of the TBX3 locus at 12q24 which may underlie its aberrant expression. In addition, promoter analysis and comparative expression profiling of HL cell lines followed by knockdown experiments revealed overexpressed transcription factors E2F4 and FOXC1 and chromatin modulator KDM2B as functional activators. Furthermore, we identified repressed target genes of TBX3 in HL including CDKN2A, NFKBIB and CD19, indicating its respective oncogenic function in proliferation, NFkB-signaling and B-cell differentiation. Taken together, we have revealed a lymphoid TBX-code and used it to identify an aberrant network around deregulated T-box gene TBX3 in HL which promotes hallmark aberrations of this disease. These findings provide a framework for future studies to evaluate deregulated T-box genes in lymphoid malignancies.
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Ehrlich, Kenneth C., Michelle Lacey, Carl Baribault, Sagnik Sen, Pierre Olivier Esteve, Sriharsa Pradhan, and Melanie Ehrlich. "Promoter-Adjacent DNA Hypermethylation Can Downmodulate Gene Expression: TBX15 in the Muscle Lineage." Epigenomes 6, no. 4 (December 9, 2022): 43. http://dx.doi.org/10.3390/epigenomes6040043.
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TBX15, which encodes a differentiation-related transcription factor, displays promoter-adjacent DNA hypermethylation in myoblasts and skeletal muscle (psoas) that is absent from non-expressing cells in other lineages. By whole-genome bisulfite sequencing (WGBS) and enzymatic methyl-seq (EM-seq), these hypermethylated regions were found to border both sides of a constitutively unmethylated promoter. To understand the functionality of this DNA hypermethylation, we cloned the differentially methylated sequences (DMRs) in CpG-free reporter vectors and tested them for promoter or enhancer activity upon transient transfection. These cloned regions exhibited strong promoter activity and, when placed upstream of a weak promoter, strong enhancer activity specifically in myoblast host cells. In vitro CpG methylation targeted to the DMR sequences in the plasmids resulted in 86–100% loss of promoter or enhancer activity, depending on the insert sequence. These results as well as chromatin epigenetic and transcription profiles for this gene in various cell types support the hypothesis that DNA hypermethylation immediately upstream and downstream of the unmethylated promoter region suppresses enhancer/extended promoter activity, thereby downmodulating, but not silencing, expression in myoblasts and certain kinds of skeletal muscle. This promoter-border hypermethylation was not found in cell types with a silent TBX15 gene, and these cells, instead, exhibit repressive chromatin in and around the promoter. TBX18, TBX2, TBX3 and TBX1 display TBX15-like hypermethylated DMRs at their promoter borders and preferential expression in myoblasts. Therefore, promoter-adjacent DNA hypermethylation for downmodulating transcription to prevent overexpression may be used more frequently for transcription regulation than currently appreciated.
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Jahangiri, Leila, and Fiona Wardle. "Co-regulation of mutual target genes by Ntla and Tbx16 in zebrafish mesoderm development." Developmental Biology 356, no. 1 (August 2011): 261. http://dx.doi.org/10.1016/j.ydbio.2011.05.502.
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Manning, Alyssa J., and David Kimelman. "Tbx16 and Msgn1 are required to establish directional cell migration of zebrafish mesodermal progenitors." Developmental Biology 406, no. 2 (October 2015): 172–85. http://dx.doi.org/10.1016/j.ydbio.2015.09.001.
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Bouldin, C. M., A. J. Manning, Y. H. Peng, G. H. Farr, K. L. Hung, A. Dong, and D. Kimelman. "Wnt signaling and tbx16 form a bistable switch to commit bipotential progenitors to mesoderm." Development 142, no. 14 (June 10, 2015): 2499–507. http://dx.doi.org/10.1242/dev.124024.
Full textDissertations / Theses on the topic "Tbx16"
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Muyskens, Jonathan B. "Tbx16 and Wnt11 coordinately regulate prechordal plate morphogenesis /." view abstract or download file of text, 2005. http://www.lib.umi.com/cr/uoregon/fullcit?p3201693.
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Thesis (Ph. D.)--University of Oregon, 2005.Typescript. Includes vita and abstract. Includes bibliographical references (leaves 55-58). Also available for download via the World Wide Web; free to University of Oregon users.
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Burbridge, Sarah. "The role of Tbx18 in axial mesoderm development." Thesis, University of Sheffield, 2012. http://etheses.whiterose.ac.uk/3312/.
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The axial mesoderm is a specialised population of cells lying at the midline of the embryo. It is composed of two cell populations: the anterior prechordal mesoderm (PM), bounded posteriorly by the notochord (NC). A wealth of studies have shown that both PM and NC are key organising centers that pattern and regionalise the overlying neuroectoderm into fore-, mid-, hindbrain and spinal cord. However, it is unclear how the axial mesoderm becomes regionalised into PM and NC with a sharp boundary established between the two domains. Here I use the chick embryo to address this question. One of the reasons that studies into the development of axial mesoderm have been hampered is due to the lack of an exclusive marker of the PM. Here, I show that Tbx18 is a novel and exclusive marker of the PM and is expressed once the axial mesoderm has fully extended. Much emphasis has been placed in the literature upon the importance of Nodal signalling in axial mesoderm formation, however, little is known about its role in the fully extended axial mesoderm. Here, I show that Nodal initiates Tbx18 expression in the fully extended axial mesoderm, i.e. acting to further specify PM. My studies reveal, further, that Nodal signalling is inhibited by the paraxial mesoderm and retinoic acid. Together, the antagonistic signals appear to establish the posterior limit of the PM and the anterior limit of the NC. Finally, I find that Tbx18 sharpens the PM-NC boundary by downregulating the NC marker 3B9 and establishing a third subpopulation of Shh- axial mesoderm that lies at the PM-NC interface. I discuss the potential significance of this third axial mesoderm population.
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Arribas, Arranz Jéssica. "Los factores de transcripción TBX15 e YY1 en cáncer. Función y regulación de TBX15. Expresión de YY1 en cáncer de tiroides." Doctoral thesis, Universitat Autònoma de Barcelona, 2015. http://hdl.handle.net/10803/323905.
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TBX15 e YY1 son dos factores de transcripción y los factores de transcripción, como moléculas transductoras de señales, ejercen un papel clave en la regulación de muchos procesos básicos del funcionamiento y fisiología de la célula, como pueden ser la proliferación celular, la inducción de la apoptosis o la reparación del DNA. Por lo tanto, la expresión y función aberrantes de los factores de transcripción son un punto importante en la aparición y desarrollo del cáncer.
Los factores de transcripción en cáncer actúan como oncogenes o genes supresores de tumores y su expresión se encuentra alterada en muchos tipos de cáncer. En cáncer de tiroides se ha descrito la asociación de ciertos factores de transcripción específicos del tiroides con este tipo de cáncer, pero no existe información acerca de la implicación de otros factores de transcripción generales, ni tampoco sobre TBX15 e YY1. La implicación de YY1 en cáncer está documentada; sin embargo, no existen estudios relativos a la posible implicación de TBX15 en cáncer. En este contexto, la presente tesis aporta conocimiento sobre el papel del factor de transcripción TBX15 en el desarrollo del cáncer, y se analiza la expresión de YY1 en cáncer de tiroides.
Nuestro estudio describe una nueva función del factor de transcripción TBX15 como inhibidor de la apoptosis celular, lo que puede contribuir al potencial proliferativo de las células cancerígenas y sugiere a TBX15 como una diana terapéutica potencial en el tratamiento del cáncer. También, hemos demostrado que NFkB regula positivamente la transcripción de TBX15 mediante su unión a una región reguladora en la zona 5’-distal del gen TBX15. La relación entre TBX15 y NFkB puede ser importante para entender el papel de TBX15 en el cáncer.
Con referencia al factor de transcripción YY1, nuestros resultados representan el primer estudio sobre la implicación de YY1 en el cáncer de tiroides sin tener información previa sobre la expresión de este factor en este tipo cáncer. Mostramos como YY1 se encuentra sobreexpresado en cáncer diferenciado de tiroides, siendo más frecuente su expresión positiva en el tipo papilar que en el folicular, poniendo en evidencia la posible implicación de YY1 en el cáncer de tiroides.TBX15 and YY1 are transcription factors; these molecules are able to transduction signals, being essential in the regulation of many basic cellular processes including cell proliferation and apoptosis. Therefore, the anomalous expression and function of these transcription factors is crucial in the beginning and in the development of cancer. Transcription factors act as oncogenes or tumor suppressor genes and their expression is found altered in multiple types of cancer. Specific transcription factors of the thyroid gland have been reported to be associated with thyroid cancer; however there is no information about the implication of general transcription factors, such as TBX15 or YY1. The involvement of YY1 in cancer is well documented; whereas there are scarcely any studies describing the possible implication of TBX15 in cancer. In this context, the present thesis provides knowledge about the role of transcription factor TBX15 in the development of cancer; moreover, it also analyzes the expression of transcription factor YY1 in differentiated thyroid cancer. Our study reveals a novel function of transcription factor TBX15 as an inhibitor of cellular apoptosis, which can contribute to the proliferative potential of cancer cells, and may suggest TBX15 as a potential therapeutic target in cancer treatment. Furthermore, we have also proven that NFkB activates the transcription of TBX15 by binding to the 5’-flanking regulatory region of the gene TBX15. Thus, the interaction between TBX15 and NFkB could prove to be important to understand the function of TBX15 in cancer. Without any previous information regarding the expression of transcription factor YY1 in thyroid cancer, our results represent the first study about the implication of YY1 in this type of cancer. We demonstrate how YY1 is overexpressed in differentiated thyroid cancer, and what’s more, its positive expression has been found to be more frequent in the papillary type rather than in the follicular type. Therefore these results evidence the possible implication of transcription factor YY1 in thyroid cancer.
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Cinzia, Caprio. "Tbx1 functions in pharyngeal arch and cardiovascular development." Thesis, Open University, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.663223.
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Tbx 1, a gene encoding aT-box transcription factor, is required for embryonic development in humans and mice. Half dosage of this gene causes most of the features of the DiGeorge or Velocardiofacial syndrome phenotypes, including aortic arch and cardiac outflow tract abnormalities. Here we show that genetic ablation of Trp53 or pharmacological inhibition of its protein product p53 rescues almost completely aortic arch defects and significantly ameliorates outflow tract defects of Tbx1 mouse mutants. Trp53 deletion rescues the cell proliferation deficit in the second heart field of Tbx1 mutants. In addition, and surprisingly, Tbx1 and p53 proteins can be found on neighboring sites on chromatin, suggesting that they share a set of target genes. In a search for shared targets, we found that the expression of Gbx2, a gene that interacts with Tbx1 during development of the aortic arch arteries, is down regulated by Tbx1 heterozygosity and rescued by Trp53 heterozygosity. In addition, Tbx1 and p53 occupy the Gbx2 gene, indicating that both contribute to its regulation. Overall our data identify unexpected interactions between Tbx1 and Trp53 and provide a proof of principle that developmental defects associated with reduced dosage of Tbx1 can be rescued pharmacologically.
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Martin, Jody Carl. "TBx18 and the epicardium in cardiac development and regenerative medicine." Diss., Connect to a 24 p. preview or request complete full text in PDF format. Access restricted to UC campuses, 2008. http://wwwlib.umi.com/cr/ucsd/fullcit?p3336705.
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Thesis (Ph. D.)--University of California, San Diego, 2008.Title from first page of PDF file (viewed January 6, 2009). Available via ProQuest Digital Dissertations. Vita. Includes bibliographical references (p. 128-139).
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De, Mesmaeker Julie Anne Laurence Nathalie. "Molecular mechanisms connecting genotype and phenotype in Tbx1 deficiency." Thesis, University of Oxford, 2012. http://ora.ox.ac.uk/objects/uuid:56013dc6-50af-454c-b036-284e5449aa8f.
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Background: The 22q11 deletion syndrome (22q11DS), also known as DiGeorge Syndrome, affects ~1/5000 live born children. Congenital heart defects (typically outflow tract and interrupted aortic arch) are present in 75% of individuals with 22q11DS and are the major cause of mortality. Other defects are cleft palate, thymus hypoplasia, inner ear defects and neuropsychiatric abnormalities. Df(16)1 mice carry a ~1 Mb hemizygous deletion on mouse chromosome 16 in a region syntenic with 22q11 and phenocopies 22q11DS. TBX1 is a DNA-binding transcription factor located in this interval and is required for neural crest cell proliferation and migration and for cardiac development. TBX1 point mutations have been identified in patients with DiGeorge syndrome. Thus TBX1 is thought to be a major gene responsible for the cardiac phenotype in 22q11DS. A key unresolved issue is the mechanism of reduced penetrance of cardiac malformations. One possibility is environmental variation during cardiogenesis. A second possibility is that variation in the TBX1 protein interaction network results in variable penetrance of the phenotype. Mutations in TBX1 or interacting partners could affect the structure of this protein interaction network. Aim: The aim of this thesis is to characterize the molecular mechanism of TBX1 function using biochemical and genetic approaches and to define the role of environmental variation on the DiGeorge phenotype. Results First part. Interaction of Df(16)1 with high-fat maternal diet. To determine if a maternal high-fat diet affects the penetrance of cardiac and thymus malformations in the Df1 deletion mouse model, wild-type and Df1 heterozygous embryos from control and high-fat diet groups were analyzed. No significant difference in the penetrance or the severity of cardiac malformations between these groups was found. These results do not support the idea that change in the fat content of maternal diet affects phenotype in this model. Thus, it is possible that high-fat diet interacts specifically with left-right patterning rather than with the genetic control of pharyngeal arch development and neural crest cell migration and survival. Second part. George, a novel ENU induced mutation in Tbx1. The George mutation, identified and mapped to Chr16 between rs4161352 and D16Mit112, results in fully penetrant cleft palate, cardiac malformations (VSD, IAA, CAT), absent cochlea and abnormal semicircular canals, and absent thymus resembling the human DiGeorge phenotype. Tbx1 lies in this interval and sequencing identified a G > A point mutation in exon 3 which is predicted to cause a Arginine to Glutamine change at amino acid position 160. George fails to genetically complement a Tbx1 null allele, confirming that it is causative and that George is functionally a null allele. RT-PCR showed that the George mutation affects splicing, resulting in a transcript lacking exon 3. This causes the loss of 34 amino acids within the TBX1 T-box domain, thus predicting that it affects DNA binding. Transactivation assays show that while the R160Q amino acid substitution significantly reduces the transactivation capacity of TBX1, surprisingly the loss of exon 3 does not affect this function. Analysis of endogenous TBX1 in developing embryos by Western blot showed that the protein expression is absent or significantly reduced. This finding suggests that the observed George phenotype is caused primarily by a loss of TBX1 protein expression. Third part. Investigation of the protein interaction network surrounding TBX1. In order to get a better insight into the protein network surrounding TBX1, a TBX1 split renilla-luciferase protein complementation assay was set up which allowed to test the physical interaction between TBX1 and several putative interactors. It was found that GATA4, SMARCAD1, RBBP5 and PTDSR interact with wild-type TBX1 in HEK293T cells. The R160Q point mutation and the loss of exon 3 affect some of these interactions supporting the idea that variation in the protein interaction network may, at least in part, be responsible for the DGS phenotype.
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Giménez, Esteban Mariano. "Expresión y regulación De los genes WDR3 y TBX15 en cáncer." Doctoral thesis, Universitat Autònoma de Barcelona, 2012. http://hdl.handle.net/10803/121601.
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Numerosos estudios se llevan a cabo en todo el mundo para conocer las causas y el comportamiento del cáncer y aplicar este conocimiento a la mejora de la prevención, diagnóstico y tratamiento de las personas afectadas. Es en este contexto en el cual nuestro grupo pretende contribuir con estos objetivos, aportando nuevos conocimientos sobre los procesos involucrados en el desarrollo tumoral en el cáncer de tiroides en particular y en la carcinogénesis en general. El objetivo principal de este trabajo de tesis es estudiar la implicación de los genes WDR3 y TBX15 en el cáncer. El estudio de estos genes surge debido a que estudios previos llevados a cabo en nuestro laboratorio identificaron dos polimorfismos marcadores de la susceptibilidad al cáncer de tiroides en la región cromosómica 1p12, donde se encuentran estos genes. Además, esta región cromosómica ha sido asociada frecuentemente con numerosos tipos de cáncer. Uno de los polimorfismos identificados se encuentra en el intrón 24 del gen WDR3 y el otro en una región vacía de genes ubicada a 460 Kb del gen TBX15. La función de estos genes no ha sido completamente dilucidada, sin embargo, se ha propuesto que WDR3 estaría involucrado en la proliferación del ciclo celular a través de la interrupción de la biogénesis del ribosoma, además, varios estudios han mostrado una expresión irregular de las proteínas con motivos WD en determinados tipos de cáncer. Por otra parte, el gen TBX15, al igual que los demás miembros de la familia T-box, ha sido asociado a procesos del desarrollo, además, en los últimos años han surgido evidencias que indican una relación entre los genes T-box y la tumorigénesis, con efectos sobre la proliferación celular, invasión y metástasis. Es por ello que hipotetizamos que los genes WDR3 y TBX15 podrían estar relacionados con el cáncer. Numerosos estudios se llevan a cabo en nuestro laboratorio con el fin de dilucidar el papel de estos genes en la etiología del cáncer de tiroides en particular y también en el cáncer en general. En el presente trabajo de tesis realizamos un estudio de asociación de los genes WDR3 y TBX15 con la susceptibilidad al cáncer de tiroides y, seguidamente, analizamos su expresión y regulación principalmente en cáncer de tiroides y también en cáncer de colon y tumores cerebrales. El estudio de asociación del gen WDR3 con el cáncer de tiroides indica que este gen es un factor de susceptibilidad a este tipo de cáncer. Además, los análisis de expresión de WDR3 evidencian una sobre-expresión de este gen en el cáncer de tiroides y de colon. Los análisis de metilación de la región promotora de WDR3 indican que esta modificación epigenética no está involucrada en la regulación de la expresión de WDR3 a nivel transcripcional, sin embargo, el análisis de factores de transcripción de unión al promotor muestran que los factores c-Myc y CTCF actúan regulando la expresión de WDR3. Por otra parte, el estudio de asociación del gen TBX15 con el cáncer de tiroides indica que este gen no es un factor de susceptibilidad a este tipo de cáncer. Los análisis de expresión de TBX15 evidencian una expresión disminuida de este gen en el cáncer de tiroides. Los análisis de metilación de la región promotora de TBX15 en tejidos de tiroides y tejidos cerebrales, indican que esta modificación epigenética está involucrada en la regulación de la expresión de TBX15 a nivel transcripcional. El presente trabajo de tesis pone en evidencia el papel de los genes WDR3 y TBX15 en la etiología del cáncer de tiroides y sugieren su implicación en la carcinogénesis en general.There are numerous studies dedicated to find out the causes of cancer and its progression and the application of this knowledge to improving the prevention, diagnosis and treatment. In this context our group contributes to these objectives, providing new insights into the processes involved in tumor development of thyroid cancer in particular and carcinogenesis in general. The main objective of this thesis is to study the involvement of the genes WDR3 and TBX15 in cancer. The study of these genes arises from studies conducted in our laboratory that identified two polymorphisms markers of thyroid cancer susceptibility in the chromosomal region 1p12, where these genes have been mapped. Additionally, this chromosomal region has often been associated with many types of cancer. One of the polymorphisms identified is located in WDR3 (intron 24) gene and the other in a region located at 460 Kb from TBX15 gene. The function of these genes has not been completely known, however, it has been proposed that WDR3 is involved in the proliferation of the cell cycle through the disruption of the ribosome biogenesis. In addition, several studies have shown an irregular expression of WD repeat proteins in certain types of cancer. Moreover, the TBX15 gene, like other members of the T-box family, has been related to developmental processes and several evidences suggest a relationship between the T-box genes and tumorigenesis, with effects on cell proliferation, invasion and metastasis. That is why we hypothesize that genes WDR3 and TBX15 may be related to cancer. Numerous studies are conducted in our laboratory to elucidate the role of these genes in the etiology of thyroid cancer in particular and also in cancer in general. In this thesis was performed an association study of genes WDR3 and TBX15 with thyroid cancer susceptibility, and their expression and regulation were analyzed in thyroid cancer, colon cancer and brain tumors. The gene association study of WDR3 with thyroid cancer indicates that this gene is a susceptibility factor for this cancer. The expression analysis shows that the WDR3 is over-expressed in thyroid cancer and colon cancer. The methylation analysis of the promoter region of WDR3 indicates that this epigenetic modification is not involved in the regulation of WDR3 expression at transcriptional level, however, analysis of transcription factors binding to the promoter shows that the c-Myc and CTCF factors could act as regulators of the WDR3 expression. Moreover, the association study of TBX15 gene with thyroid cancer indicates that this gene is not a susceptibility factor for this cancer. The expression analysis of TBX15 shows decreased expression of this gene in thyroid cancer. The methylation analysis of the promoter region of TBX15 in thyroid tissues and brain tissues, indicates that this epigenetic modification is involved in the regulation of TBX15 expression at transcriptional level. This thesis highlights the role of genes WDR3 and TBX15 in the etiology of thyroid cancer and suggests their involvement in carcinogenesis in general.
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Briones, Leon Jose Alberto. "Investigating a Tbx1 and Pax9 genetic interaction during cardiovascular development." Thesis, University of Newcastle upon Tyne, 2015. http://hdl.handle.net/10443/2839.
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Congenital cardiovascular malformations (CCVM) are the most common type of birth defect in humans and can be life threatening for the newborn. 22q11 deletion syndrome (22q11DS) is one of the most common CCVM in humans, with patients presenting a wide variety of abnormalities including craniofacial dysmorphology, immune deficiency, mental retardation and cardiovascular defects, including ventricular septal defects, abnormal right subclavian artery and interrupted aortic arch type B. TBX1 is considered the main gene underlying the cardiovascular phenotype in 22q11DS patients, however, the great phenotypic variability among 22q11DS patients suggests genetic modifiers define the presentation of the phenotype. The transcription factor Pax9, was found significantly down-regulated in Tbx1-null embryos (a mouse model of 22q11DS). The aim of this project was to determine whether Pax9 is involved in cardiovascular development and to study a potential genetic interaction between Pax9 and Tbx1 during cardiovascular development. The results show that Pax9 is required for cardiovascular development as all Pax9-null embryos have severe cardiovascular abnormalities including IAA, VSD, BAV, DORV, and abnormal or completely absent common carotids. Furthermore, a strong genetic interaction between Pax9 and Tbx1 was found, since double heterozygosity leads to lack of formation of the 4th pharyngeal arch arteries consequently leading to a significant increase in the incidence of IAA. The molecular mechanism of this interaction between Pax9 and Tbx1 was investigated. The results show that Tbx1 does not bind to any region within the Pax9 locus in vitro and in vivo. A physical interaction between Pax9 and Tbx1 proteins was also ruled out by co-immunoprecipitation. qPCR analysis revealed a significant downregulation of Gbx2 in double heterozygous embryos, and luciferase experiments revealed Pax9 is able to promote luciferase expression of a conserved regulatory region within the Gbx2 locus, whereas Tbx1 repressed luciferase expression of this Gbx2 cloned regions. The results in this dissertation suggest Pax9 and Tbx1 regulate cardiovascular development, at least in part, through regulating Gbx2.
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Bussen, Markus. "Die funktionelle Analyse des T-box-Transkriptionsfaktors Tbx18 in der Somitogenese der Maus." [S.l.] : [s.n.], 2005. http://deposit.ddb.de/cgi-bin/dokserv?idn=976695405.
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Marco, Viviani de. "Estudos dos genes Tbx19 e Crhr1 em cães da raça poodle com hipercortisolismo ACTH-dependente." Universidade de São Paulo, 2010. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-28052010-113552/.
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O hipercortisolismo ACTH-dependente (HAD), também chamado de doença de Cushing, é uma das endocrinopatias mais comumente diagnosticadas na espécie canina. A sintomatologia clínica ocorre, secundariamente, aos efeitos gliconeogênicos, catabólicos, antiinflamatórios e imunossupressores dos glicocorticóides sobre vários sistemas orgânicos. Há uma marcante predisposição da doença na raça poodle e casos familiais têm sido diagnosticados sugerindo uma causa genética. As alterações moleculares que levam ao desenvolvimento do HAD em cães permanecem indefinidas. Dentre os genes implicados no desenvolvimento dos corticotrofos e na regulação do eixo corticotrófico, destacam-se o Tbx19 e o Crhr1, respectivamente. O Tbx19 é um fator de transcrição obrigatório para a transcrição do gene da proopiomelanocortina (POMC) e para a diferenciação terminal dos corticotrofos. Como está presente, exclusivamente, em corticotrofos normais e adenomatosos, foi proposto seu envolvimento na secreção excessiva de ACTH na doença de Cushing. A presença de CRHR1 nos corticotrofinomas na espécie humana e canina levantou a hipótese da sua participação na tumorigênese hipofisária, promovendo uma estimulação celular prolongada, mesmo na ausência de hormônios hipotalâmicos. Um aumento da expressão do CRHR1 foi demonstrado nos tumores corticotróficos, apesar da secreção autônoma de ACTH e dos níveis portais suprimidos de CRH em pacientes humanos e caninos com doença de Cushing. Os objetivos do presente trabalho foram pesquisar a presença de mutações germinativas nas regiões codificadoras dos genes Tbx19 e Crhr1 em cães com HAD. Para tanto, estudamos 50 cães da raça poodle com hipercortisolismo ACTH-dependente (33 fêmeas e 17 machos), com idade média de 8,71 anos e 50 cães controle da mesma raça (32 fêmeas e 18 machos) com idade superior a 6 anos (média de 9,38 anos) e sem endocrinopatias. O DNA genômico foi extraído e amplificado através da reação de polimerização em cadeia (PCR), utilizando-se oligonucleotídeos (primers) específicos para os genes Tbx19 e Crhr1. Foi identificada uma nova variante alélica tanto no Tbx19 como no Crhr1, ambas não descritas na literatura. No gene Tbx19, a variante p. S343G foi encontrada em dois cães não aparentados, mas também em dois controles normais, sugerindo tratar-se de um novo polimorfismo. Já a variante p. V97M do Crhr1 foi encontrada, em heterozigose em um animal com HAD, porém não foi observada em cem alelos normais. O códon 97 está localizado no domínio extracelular aminoterminal do gene Crhr1, de extrema importância para a ligação com alta afinidade ao ligante. O estudo molecular da estrutura quartenária da proteína mutada, seguido da avaliação da energia de ligação da superfície de contato entre o hormônio e o receptor revelou um rearranjo estrutural com alteração da superfície de contato entre o CRH e o seu receptor CRHR1, resultando em uma energia de ligação 17% superior à do receptor selvagem. Em conclusão, esse estudo não identificou alterações no gene Tbx19 associadas ao hipercortisolismo ACTH-dependente canino, mas por outro lado, identificou pela primeira vez, uma mutação ativadora no Crhr1, provavelmente responsável pelo hipercortisolismo ACTH-dependente em um cão da raça poodle.The ACTH-dependent hypercortisolism (ADH), also called Cushing\'s disease, is one of the most commonly diagnosed endocrine diseases in dogs. The symptoms occur due to glucocorticoids excess leading to gluconeogenic, catabolic, anti-inflammatory and immunosuppressive effects in multiple organs and systems. There is a high incidence of Cushing\'s disease in Poodles and familial disease has been identified suggesting a genetic involvement. The molecular changes that lead to the development of ACTH-dependent hypercortisolism in dogs remain undefined. Among genes implicated in corticotroph development and in corticotropic axis regulation, we would like to point out Tbx19 and Crhr1, respectively. Tbx19 gene is a transcription factor required for transcription of the proopiomelanocortin gene and for terminal differentiation of the corticotroph. Inactivating mutations in that gene are associated with human isolated ACTH deficiency. Since Tbx19 is present exclusively in normal and adenomatous corticotroph cells, its involvement in the secretion of ACTH in Cushing\'s disease was proposed. The presence of CRHR1 in corticotrophinomas in humans and dogs raised the possibility of its involvement in pituitary tumorigenesis, promoting prolonged cell stimulation, even in the absence of hypothalamic hormones. An increased expression of the CRHR1 mRNA was demonstrated in human and canine ACTH-secreting pituitary adenomas, despite the autonomous ACTH secretion and the low portal levels of CRH. The aim of this study was to investigate Tbx19 and Crhr1 coding region mutations in Poodle dogs with ACTH-dependent hypercortisolism. We studied 50 Poodle dogs with ADH (33 females and 17 males) with a mean age of 8.71 years and 50 control dogs of the same breed (32 females and 18 males) older than 6 years (mean 9.38 years) and without endocrinopathies. Genomic DNA was extracted from peripheral blood, amplified by the polymerase chain reaction (PCR) using specific intronic primers and submitted to automatic sequence. We identified a new allelic variant in the Tbx19 and Crhr1 coding regions. The allelic variant p. S343G in the Tbx19 gene was found in two unrelated dogs, but also in two normal controls, suggesting that this is a new polymorphism. The Crhr1 allelic variant p. V97M was found in heterozygosity in one animal with ACTH-dependent hypercortisolism, but was not observed in one hundred normal alleles. The codon 97 is located in the extracellular amino terminal domain of the Crhr1 and is extremely important for high affinity ligand binding. The molecular analysis of the quaternary structure of normal and mutated proteins, followed by evaluation of the binding energy of the contact surface between the hormone and the receptor showed a structural rearrangement of the mutated protein by changing the contact surface between the CRH and its receptor CRHR1, resulting in a binding energy 17% higher than the wild type. In conclusion, this study did not identify Tbx19 mutations associated with canine ACTH-dependent hypercortisolism, but on the other hand, we first identified a Crhr1 gain-of-function mutation probably responsible for ACTH-dependent hypercortisolism in a Poodle dog of our cohort.
Book chapters on the topic "Tbx16"
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Melby, Alan K. "TBX: A terminology exchange format for the translation and localization industry." In Handbook of Terminology, 393–424. Amsterdam: John Benjamins Publishing Company, 2015. http://dx.doi.org/10.1075/hot.1.tbx1.
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Tsuchihashi, Takatoshi, Reina Ishizaki, Jun Maeda, Akimichi Shibata, Keiko Uchida, Deepak Srivastava, and Hiroyuki Yamagishi. "Modification of Cardiac Phenotype in Tbx1 Hypomorphic Mice." In Etiology and Morphogenesis of Congenital Heart Disease, 215–17. Tokyo: Springer Japan, 2016. http://dx.doi.org/10.1007/978-4-431-54628-3_28.
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Yamagishi, Hiroyuki, and Deepak Srivastava. "Molecular Mechanisms Regulating Tissue-Specific Expression of Tbx1." In Cardiovascular Development and Congenital Malformations, 128–31. Malden, Massachusetts, USA: Blackwell Publishing Ltd, 2007. http://dx.doi.org/10.1002/9780470988664.ch32.
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Okubo, Tadashi. "Tbx1/Ripply3/Retinoic Acid Signal Network That Regulates Pharyngeal Arch Development." In New Principles in Developmental Processes, 97–108. Tokyo: Springer Japan, 2014. http://dx.doi.org/10.1007/978-4-431-54634-4_8.
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Xu, Huansheng, Masae Morishima, and Antonio Baldini. "Tbx1 and Digeorge Syndrome: A Genetic Link between Cardiovascular and Pharyngeal Development." In Cardiovascular Development and Congenital Malformations, 132–34. Malden, Massachusetts, USA: Blackwell Publishing Ltd, 2007. http://dx.doi.org/10.1002/9780470988664.ch33.
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Kochilas, Lazaros, Jun Liao, Sandra Merscher-Gomez, Raju Kucherlapati, Bernice Morrow, and Jonathan A. Epstein. "New Insights into the Role of Tbx1 in the Digeorge Mouse Model." In Cardiovascular Development and Congenital Malformations, 135–36. Malden, Massachusetts, USA: Blackwell Publishing Ltd, 2007. http://dx.doi.org/10.1002/9780470988664.ch34.
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Baldini, A., F. G. Fulcoli, and E. Illingworth. "Tbx1." In Current Topics in Developmental Biology, 223–43. Elsevier, 2017. http://dx.doi.org/10.1016/bs.ctdb.2016.08.002.
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Morrow, Bernice E., Donna M. Mcdonald-Mcginn, and Beverly S. Emanuel. "The 22q11.2 Deletion Syndrome and TBX1." In Epstein's Inborn Errors of Development, 827–31. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199934522.003.0120.
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Turnpenny, Peter D., Kenro Kusumi, and Sally L. Dunwoodie. "DLL3, MESP2, LFNG, HES7, TBX6, RIPPLY2 and Spondylocostal Dysostosis." In Epstein's Inborn Errors of Development, 559–70. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199934522.003.0074.
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Hannan, Fadil M., Bart L. Clarke, and Rajesh V. Thakker. "Hypocalcaemic Disorders, Hypoparathyroidism, and Pseudohypoparathyroidism." In Oxford Textbook of Endocrinology and Diabetes 3e, edited by John A. H. Wass, Wiebke Arlt, and Robert K. Semple, 685–98. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198870197.003.0085.
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Hypocalcaemia ranges from an asymptomatic biochemical abnormality to a life-threatening disorder, and may be caused by vitamin D deficiency, chronic renal failure, hypomagnesaemia, hypoparathyroidism, and pseudohypoparathyroidism. Hypoparathyroidism may occur as part of a pluriglandular autoimmune disorder or a complex congenital defect, such as the autosomal dominant DiGeorge or Hypoparathyroidism-deafness-renal anomalies (HDR) syndromes. In addition, hypoparathyroidism may occur as an isolated endocrinopathy, with autosomal dominant, autosomal recessive, and X-linked inheritances. Molecular genetic studies of hypoparathyroidism have elucidated important roles for: transcription factors (e.g. TBX1, GATA3, GCMB, and AIRE), the tubulin-specific chaperone (TBCE), and the mitochondrial genome in determining parathyroid development and function; the calcium-sensing receptor (CaSR) and G-protein subunit α-11 (Gα11) in regulating extracellular calcium and parathyroid hormone (PTH) secretion; and PTH gene expression for synthesis and secretion of PTH. Pseudohypoparathyroidism, an autosomal dominant disorder associated with PTH resistance, is due to abnormalities of Gαs, which mediates PTH1 receptor signalling.
Conference papers on the topic "Tbx16"
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Yue Zhang, Kuanquan Wang, Henggui Zhang, and Wei Wang. "Simulation of effects of TBX18 on the pacemaker activity of human ventricular cells." In 2015 IEEE International Conference on Bioinformatics and Biomedicine (BIBM). IEEE, 2015. http://dx.doi.org/10.1109/bibm.2015.7359906.
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