Dissertations / Theses on the topic 'Sox9b'
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Heß, Isabell. "Zum regulatorischen Code Chorda-spezifischer Enhancer Analyse des E1-Enhancers von sox9a und sox9b im Zebrafisch /." [S.l. : s.n.], 2007. http://nbn-resolving.de/urn:nbn:de:bsz:25-opus-43665.
Full textFarhat, Andalib. "Implication de la voie Prostaglandine D synthase/PGD2/SOX9 dans l'ovaire normal et pathologique et régulation par la signalisation estrogénique." Thesis, Montpellier 2, 2010. http://www.theses.fr/2010MON20206.
Full textThe prostaglandin D2 (PGD2) pathway is involved in numerous biological processes and while it has been identified as a partner of the embryonic sex determining male cascade, the roles it plays in ovarian function remain largely unknown. PGD2 is secreted by two prostaglandin D synthases (Pgds); the male-specific lipocalin (L)-Pgds and the hematopoietic (H)-Pgds. Here, we report the localization of H-Pgds mRNA in the granulosa cells from the primary to pre-ovulatory follicles. We used adult female mice treated with HQL-79, a specific inhibitor of H-Pgds enzymatic activity, to provide evidence of an interaction between H-Pgds-produced PGD2 signaling and FSH signaling. This leads to the activation of steroidogenic Scc and StAR gene expression through increased FshR and LhR receptor expression leading to progesterone secretion. We also identify a role whereby H-Pgds-produced PGD2 is involved in the regulation of follicular growth through inhibition of granulosa cell proliferation in the growing follicles. Indeed, we report an altered H-Pgds expression in human ovarian tumors alongside a partial or complete absence of H-Pgds protein in granulosa cell tumors, suggesting a potential association between decreased levels of H-Pgds expression and a tumoral phenotype. Together, these results show PGD2 signaling to be essential for FSH action within granulosa cells, thus identifying an important and unappreciated role for PGD2 signaling in controlling the balance of proliferation, differentiation and steroidogenic activity of these cells
Zhao, Li. "The role of Sox9 in osteogenesis." Thesis, Queen's University Belfast, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.486259.
Full textSavov, Vasil. "The Role of SOX9 in Medulloblastoma." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-274630.
Full textHargus, Gunnar. "Die Funktion des Transkriptionsfaktors Sox9 während der Knorpelzelldifferenzierung Analyse Sox9-defizienter embryonaler Stammzellen der Maus in vitro /." [S.l.] : [s.n.], 2004. http://deposit.ddb.de/cgi-bin/dokserv?idn=976144824.
Full textGeng, Yuhong, and 耿雨紅. "Functional studies of SOX9 in mouse development." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B31243071.
Full textAbdel-Samad, Rana. "SOX9 et MiniSOX9 dans la tumorigenèse intestinale." Thesis, Montpellier 2, 2010. http://www.theses.fr/2010MON20068.
Full textSOX9 is an HMG transcription factor involved in numerous biological processes during development and adult life. It plays an important role especially in the intestinal epithelium homeostasis. In the present study, we demonstrate that SOX9, a positive target of the oncogenic signaling pathway Wnt/(beta)-catenin, represses PKC(alpha) expression. This repression involves a new mechanism of action requiring neither HMG domain binding to DNA nor the transactivation domain of SOX9. We also report the discovery of MiniSOX9, a new SOX9 splice variant, resulting from the second intron retention. MiniSOX9 is highly expressed in colon tumors. It acts as a SOX9 dominant negative, as a repressor of the expression of the tumor suppressor PKC(alpha), and as an activator of the oncogenic signaling pathway Wnt/(beta)-catenin. Our data suggest a crucial role of MiniSOX9 in intestinal tumorigenesis. Finally, a proteomic analysis allowed us to identify potential new SOX9 and MiniSOX9 partners which will be useful to decipher the roles of these two proteins in intestinal homeostasis and tumorigenesis
Scull, Brooks Lund P. Kay. "Intestinal regeneration after irradiation stem cells and Sox9 /." Chapel Hill, N.C. : University of North Carolina at Chapel Hill, 2009. http://dc.lib.unc.edu/u?/etd,2852.
Full textTitle from electronic title page (viewed Jun. 4, 2010). "... in partial fulfillment of the requirements for the degree Master of Science in the Department of Cell and Molecular Physiology." Discipline: Cell and Molecular Physiology; Department/School: Medicine.
Nunn, A. C. "The role of SOX9 in neural progenitor identity." Thesis, University College London (University of London), 2012. http://discovery.ucl.ac.uk/1372652/.
Full textRoberts, Neil Alistair. "The role of SOX9 during human pancreas development." Thesis, University of Manchester, 2011. https://www.research.manchester.ac.uk/portal/en/theses/the-role-of-sox9-during-human-pancreas-development(dab5d8da-4c02-4592-b05e-471984461dcc).html.
Full textMorais, da Silva Sara Luisa. "Sox9 : an SRY related gene involved in sex determination." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.298429.
Full textKim, Youngwoo. "Generation of transgenic mice for conditional overexpression of Sox9." Kyoto University, 2013. http://hdl.handle.net/2433/174810.
Full textOshima, Masaya. "Rôles de SOX9 dans la cellule ß pancréatique humaine." Thesis, Sorbonne Paris Cité, 2017. http://www.theses.fr/2017USPCB040.
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Peacock, Jacqueline D. "The Role of Sox9 in Heart Valve Development and Disease." Scholarly Repository, 2011. http://scholarlyrepository.miami.edu/oa_dissertations/543.
Full textHui, Man-ning, and 許文寧. "Investigating the role of SOX9 in human neural stem cells." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hdl.handle.net/10722/193481.
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Biochemistry
Master
Master of Philosophy
Rammah-Bouazza, Cyrine. "Implication de SOX9 et de MiniSOX9 dans la tumorigenèse colorectale." Thesis, Montpellier 1, 2012. http://www.theses.fr/2012MON1T020.
Full textSOX9 is an HMG transcription factor known to regulate transcription by binding of its HMG domain to DNA. We previously demonstrated that SOX9 has anti-oncogenic-properties but SOX9 is overexpressed in colon tumors when compared to adjacent healthy tissu. This overexpression appears paradoxical, unless its anti-oncogenic activity cannot be exert. In this study, we report the discovery of MiniSOX9, a new SOX9 splice variant, which is highly expressed in colon tumors. MiniSOX9 acts as a SOX9 dominant negative isoform. Our hypothesis was that MiniSOX9 antagonizes the SOX9 anti-oncogenic activity in tumors.Using tumors cells lines inducible for SOX9 and MiniSOX9 overexpression, we showed that SOX9 reduces cell proliferation, migration and invasion. Surprisingly, MiniSOX9 has no effect on cell proliferation, suggesting that SOX9 effects could be du to his transcriptionnal activity. However, SOX9 and MiniSOX9 decrease cell clonal ability and tumorosphere formation. In this case, it is likely that SOX9 and MiniSOX9 modulate the activity of proteins partners
Hiramatsu, Yukiko. "Arid1a is essential for intestinal stem cells through Sox9 regulation." Kyoto University, 2019. http://hdl.handle.net/2433/243292.
Full textGenzer, Mary Ann. "Characterization of the Role of SOX9 in Cartilage-Specific Gene Regulation." Diss., CLICK HERE for online access, 2006. http://contentdm.lib.byu.edu/ETD/image/etd1164.pdf.
Full textWunderle, Veronique Marie. "Effects of chromosome rearrangements observed in campomelic dysplasia patients on SOX9 expression." Thesis, University of Cambridge, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.624690.
Full textJakob, S. "FOXL2 represses the testis-specific enhancer of Sox9 to maintain ovary differentiation." Thesis, University College London (University of London), 2010. http://discovery.ucl.ac.uk/19694/.
Full textSono, Takashi. "THRAP3 interacts with and inhibits the transcriptional activity of SOX9 during chondrogenesis." Kyoto University, 2018. http://hdl.handle.net/2433/230996.
Full textNguyen, Julie. "Rôle du facteur de transcription Sox9 dans l'homéostasie et la tumorigenèse intestinales." Thesis, Montpellier, 2019. http://www.theses.fr/2019MONTT046.
Full textThe intestinal homeostasis maintenance involves a permanent crosstalk between the epithelium, the microbiota and the immune system. ISC are responsible for the intestine renewal and regeneration, but they can also cause intestinal tumors. The Sox9 transcription factor is an interesting candidate as a key regulator of intestinal homeostasis because of its specific expression in ISC, Paneth cells and tuft cells. In addition, Sox9 is essential for the differentiation of Paneth cells since the loss of Sox9 in the mouse embryo (model Sox9LoxP / LoxP, Villin-Cre) leads to the absence of Paneth cells. First, we analysed the function of Sox9 in the adult intestinal epithelium using the inducible mouse model: Sox9LoxP / LoxP; Villin-CreERT2. We demonstrated that the deletion of Sox9 in adult Paneth cells leads to structural and functional alterations of Paneth cells, which induce alterations of bacterial diversity (dysbiosis). Dysbiosis is "sensed" by tuft cells that initiate a type 2 immune response. This study revealed the key role of Sox9 in adult Paneth cells to regulate intestinal homeostasis, thus preventing the establishment of a proinflammatory microbiota. Tuft cells, via their sensing function, are able to modulate mucosal immunity in response to a dysbiosis and thus participate in the formation of a vicious circle. In addition, we studied the biology of ISC, by integrating the contribution of Paneth cells properties that participate in the establishment of the niche. We analysed the properties of stem cells in a healthy context or during tumor initiation. Our data indicate that in a healthy context, Sox9 is required for the regulation of ISC fate, namely the balance between ISC self-renewal and differentiation. The mechanisms regulated by Sox9 involve cellular metabolism, a key player in the stem cells fate. Our work shows that an intact niche maintenance is necessary to control ISC fate. The deletion of Sox9 alters mitochondrial integrity and promotes mitochondrial ROS production that could modulate the ISC fate toward a differentiated state. In parallel, we demonstrated that Sox9 deletion concomitant with the acquisition of an initiating event such as the loss of function of the tumor suppressor gene Apc, affects the CSC and their cellular metabolism. The evaluation of the role of the Sox9 transcription factor in the control of metabolic homeostasis will provide a better understanding of the regulatory mechanisms in ISC biology, and eventually new therapeutic strategies targeting CSC might be proposed
Soualhi, Salima. "Rôles de SOX9 dans l’auto-renouvellement et la différenciation de l’épithélium intestinal." Thesis, Montpellier 1, 2014. http://www.theses.fr/2014MON13519.
Full textSox9 is a transcription factor expressed during the intestinal development and its expression is maintained throughout adult age in at least three populations of cells: stem cells, Paneth cells and tuft cells. Sox9 inactivation in the embryonic intestinal epithelium leads to crypts hyperplasia and to the loss of the Paneth cell lineage. The aim of this project is to determine Sox9 function in the adult intestinal epithelium, especially its role in Paneth cells (which function is altered in patients affected by inflammatory diseases such as Crohn disease), to identify how Sox9 controls proliferation and to propose molecular targets of Sox9 in tuft cells. Using mice models to inactivate Sox9 in adult intestinal epithelium, we could show that Sox9 is required to limit proliferation in the crypts, thus validating the hypothesis that Sox9 regulates negatively proliferation. Our results indicate that Sox9 is essential to maintain Paneth cells identity and we proposed that it ensures this function by repressing genes specific for Goblet cells differentiation: Muc2 and Klf4. Loss of Sox9 in Paneth cells is associated with a reduction of antimicrobial molecules which causes intestinal dysbiosis. In a specific environment (in presence of the « mouse norovirus »), Sox9-deficient mice have a defective intestinal permeability and are more susceptible to inflammation. The dysfunctions of the mucosal defences and of immunity responses in our model resemble those observed in Crohn patients, thus suggesting a potential implication of Sox9 in this pathology. In addition, these alterations could be responsible for the increased susceptibility of our deficient model to develop tumors in the context of a mutation of the tumor suppressor gene Apc. We started to unravel potential molecular targets of Sox9 that are involved in the control of proliferation, that will be important to better understand Sox9 function in the intestinal epithelium self-renewal and to identify precisely Sox9 function to maintain homeostasis and during intestinal tumorigenesis
Tsuda, Motoyuki. "The BRG1/SOX9 axis is critical for acinar cell-derived pancreatic tumorigenesis." Kyoto University, 2019. http://hdl.handle.net/2433/242378.
Full textLarsimont, Jean-Christophe. "Identification of the molecular mechanisms involved in the initiation, invasion and maintenance of basal cell carcinoma." Doctoral thesis, Universite Libre de Bruxelles, 2018. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/271467.
Full textDoctorat en Sciences biomédicales et pharmaceutiques (Médecine)
info:eu-repo/semantics/nonPublished
佘崢崢 and Tsang-tsang She. "Expression of SOX9 and type II collagen in the temporomandibular jointduring mandibular advancement." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B31973103.
Full textKobayashi, Tomohito. "A-674563 increases chondrocyte marker expression in cultured chondrocytes by inhibiting Sox9 degradation." Kyoto University, 2018. http://hdl.handle.net/2433/232130.
Full textZalzali, Hassan. "Etude du rôle du facteur de transcription SOX9 dans les cellules tumorales intestinales." Montpellier 2, 2008. http://www.theses.fr/2008MON20133.
Full textIn the intestinal epithelium, the HMG-box transcription factor SOX9 is expressed in the undifferentiated cells from the bottom of the crypts. SOX9 is present in all colorectal cancer cells (CRCC) lines that we have studied. This is probably due to the fact that SOX9 gene is regulated by the Wnt / β-catenin signaling pathway that is constitutively active in 80% of colorectal tumors. Paradoxically, we have shown in the laboratory that SOX9 decreases cell proliferation and increased apoptosis. The aim of our work was to study the role of SOX9 in the CRCC. We have identified the tumor suppressor CEACAM1 (carcinoembryonic antigen-related cell adhesion molecule 1) as the first direct transcriptional target of SOX9 in the colon epithelium. CEACAM1 is a member of the immunoglobulin superfamily. Indeed, SOX9 increases CEACAM1 expression by interacting with a high affinity sequence, 1. 4kb downstream of the coding sequence. Since SOX9 is present in CRCC, how to explain that it decreases cell proliferation, increases apoptosis and increases the expression of a tumor suppressor (CEACAM1)? We have shown that endogenous SOX9 activity is weak in CRCC. We then highlighted MiniSOX9, a SOX9 splicing variant that inhibits SOX9 activity by a dominant negative effect. This suggests that an antagonism might exist between SOX9 and MiniSOX9 that could be implicated in colon tumorigenesis
Athwal, Varinder. "Mechanism of SOX9 action as a route to diagnostic strategies in liver fibrosis." Thesis, University of Manchester, 2013. https://www.research.manchester.ac.uk/portal/en/theses/mechanism-of-sox9-action-as-a-route-to-diagnostic-strategies-in-liver-fibrosis(d047c8f8-332e-4aaa-8b4f-f5c2d1e91ab0).html.
Full textÖstergren, Tiolina. "Identification of MYCN and SOX9 target genes and a study of drug treatment effects in medulloblastoma." Thesis, Uppsala universitet, Institutionen för biologisk grundutbildning, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-262085.
Full textSugimoto, Yuki. "Scx[+]/Sox9[+] progenitors contribute to the establishment of the junction between cartilage and tendon/ligament." Kyoto University, 2014. http://hdl.handle.net/2433/185191.
Full textHosokawa, Shinichi. "Impact of Sox9 Dosage and Hes1-mediated Notch Signaling in Controlling the Plasticity of Adult Pancreatic Duct Cells in Mice." Kyoto University, 2015. http://hdl.handle.net/2433/200490.
Full textGrigorova, Fialka. "Characterization of the Role Nuclear Bmp2 (nBmp2) Plays in Regulating Gene Expression." BYU ScholarsArchive, 2011. https://scholarsarchive.byu.edu/etd/3196.
Full textYuan, Xiaodong [Verfasser], and Steven [Akademischer Betreuer] Dooley. "SOX9 in the development and chemotherapy of cholangiocarcinoma (CCA) / Xiaodong Yuan ; Betreuer: Steven Dooley." Heidelberg : Universitätsbibliothek Heidelberg, 2018. http://d-nb.info/1177691647/34.
Full textMak, Chi-yan Angel, and 麥志昕. "Bioinformatic and functional approaches to identify potential SOX9 target genes in inner ear development." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hdl.handle.net/10722/193405.
Full textPasseron, Thierry. "De la mélanogénèse au mélanome : le rôle clef de SOX9 dans la cellule mélanocytaire." Nice, 2008. http://www.theses.fr/2008NICE4012.
Full textWe showed that SOX9 is expressed in vitro and in vivo by melanocytes and plays a key role in ultraviolet B (UVB) induced melanogenesis. After the activation by cyclic AMP and protein kinase A (PKA), SOX9 increases the expression of melanogenic enzymes by acting directly on the transcription factor MITF, leading to an increased production of melanin within melanosomes. We also showed that Agouti Signalling Protein (ASP), known to inhibit melanogenesis, was able to decrease the expression of SOX9 in melanocytes. This action could explain, at least partially, the poorly understood mechanism of action of ASP. Then, we studied the expression and the role of SOX9 inhibits the proliferation of melanoma cells by acting and indirectly on p21 promoter. In the same time, SOX9 restores the sensitivity of melanoma cells to retinoic acid by decreasing the expression of PRAME. The over expression of SOX9 strongly reduces the tumorigenicity of melanoma cells in vivo in mice and ex vivo in reconstructed skin models. Finally, chemical agents, capable of increasing or activating SOX9, such as prostaglandin D2 (PGD2), reproduce its action on proliferation of melanomas and also restore the sensitivity to retinoic acid
Sumi, Eriko. "SOX9 regulates the expression of Col4a2 through transactivating its enhancer element in mesangial cells." Kyoto University, 2007. http://hdl.handle.net/2433/135766.
Full textShe, Tsang-tsang. "Expression of SOX9 and type II collagen in the temporomandibular joint during mandibular advancement." Hong Kong : University of Hong Kong, 2002. http://sunzi.lib.hku.hk/hkuto/record.jsp?B25314117.
Full textAu, Y. K. Tiffany. "Investigating the molecular mechanisms of campomelic dysplasia in a mouse with a Sox9 gene mutation." Thesis, Click to view the E-thesis via HKUTO, 2007. http://sunzi.lib.hku.hk/HKUTO/record/B39557236.
Full textBastide, Pauline. "Les rôles du facteur de transcription SOX9 dans le contrôle de l'homéostasie de l'épithélium intestinal." Montpellier 1, 2007. http://www.theses.fr/2007MON13513.
Full textThe HMG-box transcription factor Sox9 is expressed in the intestinal epithelium, specifi cally, in stem/ progenitor cells and in Paneth cells. Sox9 expression requires an active β-catenin–Tcf complex, the transcriptional effector of the Wnt pathway. This pathway is critical for numerous aspects of the intestinal epithelium physiopathology, but processes that specify the cell response to such multipotential signals still remain to be identifi ed. We inactivated the Sox9 gene in the intestinal epithelium to analyze its physiological function. Sox9 inactivation affected differentiation throughout the intestinal epithelium, with a disappearance of Paneth cells and a decrease of the goblet cell lineage. Additionally, the morphology of the colon epithelium was severely altered. We detected general hyperplasia and local crypt dysplasia in the intestine, and Wnt pathway target genes were up-regulated. These results highlight the central position of Sox9 as both a transcriptional target and a regulator of the Wnt pathway in the regulation of intestinal epithelium homeostasis
Flammiger, Anna. "Expression von Nestin und Osteopontin in Melanomzelllinien und die Rolle der Transkriptionsfaktoren BRN2, SOX9 und SOX10." Diss., lmu, 2009. http://nbn-resolving.de/urn:nbn:de:bvb:19-109457.
Full textMak, Chi-yan Angel, and 麥志昕. "Bioinformatic studies of gene regulation involving SOX9 and HOXB3 withreference to craniofacial development and other processes." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B37465405.
Full textPatzina, Tobias [Verfasser], Eva [Gutachter] Klopocki, and Johannes [Gutachter] Wirbelauer. "Genetische Veränderungen am SOX9 Lokus bei Pierre-Robin-Sequenz / Tobias Patzina ; Gutachter: Eva Klopocki, Johannes Wirbelauer." Würzburg : Universität Würzburg, 2019. http://d-nb.info/1194313876/34.
Full textDupasquier, Sébastien. "SOX9, un lien moléculaire entre voie Wnt/APC et PKCalpha dans l'épithélium intestinal sain et tumoral." Montpellier 1, 2008. http://www.theses.fr/2008MON1T041.
Full textFuruyama, Kenichiro. "Continuous cell supply from a Sox9-expressing progenitor zone in adult liver, exocrine pancreas and intestine." Kyoto University, 2011. http://hdl.handle.net/2433/142558.
Full textHyon, Capucine. "Etude des gènes impliqués dans le déterminisme gonadique chez l'homme." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066493/document.
Full textDisorders of Sex Development (DSD) can be identified in new-born and during infancy but also in adults because of infertility. Most 46,XX testicular DSD have a normal testicular development due to the presence of the SRY gene at the tip of one of their X chromosome. However, the genetic causes of 46,XX-SRY negative testicular DSD remain poorly defined. In women, disorders of gonadal development can be responsible for primary ovarian insufficiency (POI) and genetic causes are identify in only 20% of cases. The aim of this thesis was to identify molecular mechanisms involved in gonadal development and in its functioning. The cohort study of 46,XX testicular DSD identified four patients with a duplication in the previously reported RevSex region located about 550 kb upstream of SOX9. One duplication allowed us to refine the minimal region associated with 46,XX-SRY negative DSD to a 40.7–41.9 kb element. Exome sequencing of 10 patients from the cohort did not show any mutation in genes implicated in DSD or in new candidate genes. These results raise questions about the role of the regulatory sequences in the onset of DSD.The cohort study of POI patients identified three patients carrying a microdeletion including CPEB1 a good candidate gene for POI as study in mice showed the implication of CPEB1 in follicular development. Sequencing CPEB1 gene did not identified any mutation. Therefore, heterozygous deletion of CPEB1 gene leading to haploinsufficiency could be responsible for POI in humans. This microdeletion is rare but recurrent and was identified in about 1% of patients with POI. Another microdeletion containing CASP3 gene that belongs to the caspase family, which is implicated in the regulation of the follicular pool, was identified in a patient. Further studies are needed to confirm the role of CASP3 in POI. These results demonstrate the importance of genetic study of patients presenting with DSD or POI using whole genome techniques
Mak, Chi-yan Angel. "Bioinformatic studies of gene regulation involving SOX9 and HOXB3 with reference to craniofacial development and other processes." Click to view the E-thesis via HKUTO, 2005. http://sunzi.lib.hku.hk/hkuto/record/B37465405.
Full textStöckl, Sabine [Verfasser], and Achim [Akademischer Betreuer] Göpferich. "Der Einfluss von Sox9 auf Zellvitalität und Differenzierungspotential von adulten mesenchymalen Stammzellen / Sabine Stöckl. Betreuer: Achim Göpferich." Regensburg : Universitätsbibliothek Regensburg, 2013. http://d-nb.info/1043631488/34.
Full textBenko, Sabina. "Altérations génomiques à grande distance d'éléments non-codants conservés et dérégulation d'expression tissu-spécifique au locus SOX9." Paris 5, 2010. http://www.theses.fr/2010PA05T039.
Full textSQX9 is a major developmental gene mapping to a vast gene desert that encompasses its regulatory domain. The SOX9 gene coding equence mutations result in campomelic dysplaisa (CD), a complex polymalformative syndrome. We showed that alterations of non-coding sequences (translocations, deletions or point mutations) at the SOX9 locus result in isolated CD endophenotypes namely Pierre Robin sequence (iPRS) and disorders of sex developpement (iDSD). Both in vitro and in vivo studies indicate that those alterations, located at great distance with respect to SOX9 coding sequences (>1,2Mb/iPRS; >500kb/iDSD), comprise regions conserved throughout the evolution that function as regulatory elements driving tissue specific gene expression of SOX9. We suggest that alterations identified in iPRS and iDSD patients represent a tissue specific loss of SOX9 expression in the mandibular mesenchyme or the developing gonad respectively, while other territories of normal SOX9 expression remain intact
Davis, Matthew Grauden. "RHOX8 ABLATION USING A NOVEL SIRNA TRANSGENIC MOUSE MODEL YIELDS DOWN REGULATION OF SEX-DETERMINATION GENE, SOX9." OpenSIUC, 2012. https://opensiuc.lib.siu.edu/theses/1036.
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