Дисертації з теми "ANKRD26"
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Donada, Alessandro. "Physiopathological mechanisms of two congenical platelet disorders : filaminopathy-A and ANKRD26-related - Thrombocytopenia 5THC2." Thesis, Sorbonne Paris Cité, 2018. https://theses.md.univ-paris-diderot.fr/DONADA_Alessandro_2_complete_2018.zip.
Повний текст джерелаInherited thrombocytopenias are a class of congenital haematological disorders affecting primarily the megakaryocytic lineage and accomunated by a decrease in platelet numbers. Almost 50 different genes have been associated to inherited platelet disorders, and huge differences exist between each disorder, in regard to clinical manifestation and pathobiology. My research interest have been focused on two different congenital thrombocytopenias: Filaminopathy A and Thrombocytopenia 2. The first disease is a X-linked syndrome associated to mutations in the gene FLNA (Filamin A), and patients display a mild to severe macrothrombocytopenia, associated with a lifelong bleeding tendency. The second disorder is an automal dominant condition caused by mutations in the 5’ UTR of the ANKRD26 gene. It is associated with dysmegakaryopoiesis, mild to severe thrombocytopenia and an increased risk to develop myeloid malignancies. To study the physiopathology of those two rare diseases, we have exploited the induced pluripotent stem cell technology to develop several patient specific cell lines. Those experimental tools revealed invaluable for the understanding of the disease physiopathology, and allowed us to describe in great details the molecular mechanisms underlying the reduction in proplatelet formation for Filaminopathy A and the predisposition to leukemia for Thrombocytopenia 2. To perform such studies, we devised a robust differentiation protocol, recapitulating efficiently the haematopoietic differentiation and easily adapted to the in vitro differentiation of multiple cell lineages. Furthermore, we exploited a genome editing technique to introduce efficiently different protein mutants, in order to dissect the molecular role of Filamin A in megakaryopoiesis. In regard of Filaminopathy A, we have been able to describe an original and novel relationship between a membrane integrin (IIb3), Filamin A and a crucial signalling pathway (RhoA) for megakaryopoiesis. Our data support a model where the absence of FLNa induces an abnormal activity of the RhoA pathway, in response to the integrin IIb3 binding to fibrinogen. Concerning the thrombocytopenia 2, we described a novel mechanism that associated the increased expression of ANKRD26 to a deregulated activity of the G-CSF-dependent signalling pathway. This anomaly impacts the normal granulopoiesis and lead to an abnormal amplification of this cell lineage, possibly increasing the risk of acquiring other mutational hits and progress towards a myeloid malignancy.In conclusion, with this work we offer a proof of concept of the potentiality of disease modeling via induced pluripotent stem cells. Our results pave the way for further studies that could advance our understanding of the physiopathology of inherited platelet disorders
Verma, Narendra Kumar. "Ankrd2 modulates NF-kB mediated inflammatory responses during muscle differentiation." Doctoral thesis, Università degli studi di Padova, 2014. http://hdl.handle.net/11577/3423734.
Повний текст джерелаAbstract (Italiano) La proteina Ankrd2 (Ankyrin repeat domain 2) può interagire sia con proteine del sarcomero sia con proteine nucleari che regolano l’espressione genica e quindi è in grado di trasdurre stimoli di natura diversa in specifiche risposte adattative del muscolo scheletrico. In un’analisi trascrittomica condotta su mioblasti primari (proliferanti o in differenziamento) dove Ankrd2 è stata silenziata o sovra-espressa, abbiamo: a) trovato una correlazione inversa tra i livelli di Ankrd2 e l’espressione di geni pro-infiammatori; b) dimostrato che Ankrd2 agisce da potente repressore della risposta infiammatoria tramite interazione diretta con la subunità p50 del fattore di trascrizione NF-kB. In particolare, abbiamo dimostrato che la chinasi Gsk3ß è il bersaglio privilegiato del dimero di repressione p50:Ankrd2; inoltre, durante il differenziamento miogenico il reclutamento di p50 da parte di Ankrd2 dipende dalla fosforilazione di Ankrd2 mediata dalla chinasi Akt2 in condizioni di stress ossidativo. Stranamente, l’assenza di Ankrd2 influenza in maniera negativa l’espressione di citochine e di geni chiave calcineurina-dipendenti associati al programma di contrazione lenta del muscolo scheletrico. I nostri risultati supportano quindi un modello nel quale alterazioni della proteina Ankrd2 o dei suoi livelli di fosforilazione modulano l’equilibrio tra la risposta infiammatoria fisiologica e patologica nel muscolo scheletrico.
Tachibana, Mitsuhiro. "Ankyrin repeat domain 28 (ANKRD28), a novel binding partner of DOCK180, promotes cell migration by regulating focal adhesion formation." Kyoto University, 2009. http://hdl.handle.net/2433/124284.
Повний текст джерелаNg, Kung Yau. "ANKRA2 interacts with p35 and is a substrate for Cdk5/p35 /." View abstract or full-text, 2006. http://library.ust.hk/cgi/db/thesis.pl?BICH%202006%20NG.
Повний текст джерелаRostamirad, Shabnam. "Identification and characterization of a novel retinal protein, ANKRD33, and its interacting partner HPCAL-1." Thesis, University of British Columbia, 2010. http://hdl.handle.net/2429/27274.
Повний текст джерелаDuffus, Kate. "Investigation of genetic susceptibility to Rheumatoid Arthritis." Thesis, University of Manchester, 2014. https://www.research.manchester.ac.uk/portal/en/theses/investigation-of-genetic-susceptibility-to-rheumatoid-arthritis(edf01c7b-3c46-4c75-8751-6f117291c027).html.
Повний текст джерелаAckermann, Sarah [Verfasser], and Thomas [Akademischer Betreuer] Meyer. "Mutationsanalyse des ANKRD1-Gens bei Patienten mit dilatativer Kardiomyopathie / Sarah Ackermann. Betreuer: Thomas Meyer." Marburg : Philipps-Universität Marburg, 2012. http://d-nb.info/1021498874/34.
Повний текст джерелаJimenez, Carrera Adriana Patricia [Verfasser]. "Functional characterisation of ANKRD1 and its regulation by RASSF1A and YAP1 signalling / Adriana Patricia Jimenez Carrera." Gießen : Universitätsbibliothek, 2017. http://d-nb.info/1131551214/34.
Повний текст джерелаPapanikos, Frantzeskos [Verfasser], Attila [Gutachter] Tóth, and Konstantinos [Gutachter] Anastasiadis. "The role of two sex chromosome associated proteins, SCML1 and ANKRD31, in gametogenesis in mice / Frantzeskos Papanikos ; Gutachter: Attila Tóth, Konstantinos Anastasiadis." Dresden : Technische Universität Dresden, 2020. http://d-nb.info/1227196539/34.
Повний текст джерелаLin, Yen-Fan, and 林妍汎. "Inhibition of lung adenocarcinoma metastasis by ANKRD52." Thesis, 2017. http://ndltd.ncl.edu.tw/handle/39915447171426219015.
Повний текст джерелаChiu, Yen-Jung, and 邱彥蓉. "Functional Study of Ankrd17 in Vascular Development." Thesis, 2013. http://ndltd.ncl.edu.tw/handle/25065922884135331026.
Повний текст джерела國立陽明大學
生化暨分子生物研究所
101
Ankyrin repeat domain containing protein 17 (Ankrd17) gene encodes a ubiquitously expressed protein with two clusters of ankyrin repeats. The Ankrd17-deficient (Ankrd17-/-) mice die around embryonic day (E) 11.5 due to vascular development defects with severe hemorrhage. The blood vessels of Ankrd17-/- embryo has a normal pattern of endothelial cells (ECs) but less vascular smooth muscle cells (vSMCs) surround ECs compare with that in wild-type. These results suggest that Ankrd17 might play a functional role in regulating cell differentiation or migration of vSMCs. Using a gene knockdown approach in C3H/10T1/2 cells, I found that Ankrd17 could repress smooth muscle α-actin (α-SMA) expression but it was not caused by regulating the transcriptional activity of α-SMA promoter. Furthermore, downregulation of Ankrd17 could suppress the proliferation but not the migration ability in C3H/10T1/2 cells. Finally, I generated Ankrd17 SMC and EC-specific conditional knockout (CKO) mice to examine the role of Ankrd17 in embryonic vascular development. Interestingly, Ankrd17 CKO generated by SM22-, Tie2- or Mesp1-Cre did not cause vascular defect phenotypes as that in conventional knockout mice. Put together, my study provided some clues for the relationship between Ankrd17 and vSMC, but the biological and biochemical function of Ankrd17 in regulating vascular development still needs more works to investigate.
Hou, Shin-chen, and 侯信成. "Functional Characterization of Ankrd17 in Mouse Embryonic Development." Thesis, 2009. http://ndltd.ncl.edu.tw/handle/07727740269934764025.
Повний текст джерела國防醫學院
生命科學研究所
97
Ankyrin repeat domain 17 (Ankrd17) encodes an ubiquitously expressed protein with two clusters of ankyrin repeats. In order to elucidate its function(s), gene targeting strategy was used to ablate the Ankrd17 gene in mouse. The Ankrd17-deficient mice died between embryonic day (E) 10.5 and E11.5 due to cardiovascular defects. Serious hemorrhages were detected and the vascular smooth muscle cells (vSMCs) surrounding the vessels were drastically reduced in the Ankrd17-deficient embryos, suggesting that the vascular maturation was not completed. Interestingly, vSMC differentiation marker genes were up-regulated in the Ankrd17 mutant embryos. These genes were also up-regulated in a mouse vSMCs precursor cell line (C3H/10T1/2) when RNAi was applied to knockdown the Ankrd17 expression in these cells. Significantly, this up-regulation phenomenon was accompanied by a switch of the subcellular location of the Krüppel-like factor 4 (KLF4), a known repressor of the vSMC differentiation marker genes and an important player for the phenotype switching of vSMCs. Furthermore, 10T1/2 cells with knockdown of Ankrd17 expression exhibited reduced migration in a wound healing assay. These data together suggest that Ankrd17 participates in the maintenance of the dedifferentiation state of the vSMCs by restricting the expression of vSMC differentiation marker genes through control of the subcellular location of KLF4. Loss-of-function of Ankrd17 would then lead to the promiscuously high level of vSMC differentiation marker gene expression and consequently the defective migration of vSMCs from their originating sites to the vessel tubes.
Liu, Ying-Pu, and 劉穎璞. "Inhibitory roles of ANKRD52 in the metastasis of lung adenocarcinoma." Thesis, 2015. http://ndltd.ncl.edu.tw/handle/69139614501584275404.
Повний текст джерелаLim, Sue Ping. "Epigenetics in cancer : basic and translational aspects." Thesis, 2012. http://hdl.handle.net/2440/86747.
Повний текст джерелаThesis (Ph.D.) -- University of Adelaide, School of Medicine, 2012
Papanikos, Frantzeskos. "The role of two sex chromosome associated proteins, SCML1 and ANKRD31, in gametogenesis in mice." 2019. https://tud.qucosa.de/id/qucosa%3A38048.
Повний текст джерелаNeilsen, Paul Matthew. "Functional analysis of ANKRD11 and FBXO31: two candidate tumour suppressor genes from the 16q24.3 breast cancer loss of heterozygosity region." 2008. http://hdl.handle.net/2440/59014.
Повний текст джерелаhttp://proxy.library.adelaide.edu.au/login?url= http://library.adelaide.edu.au/cgi-bin/Pwebrecon.cgi?BBID=1325445
Thesis (Ph.D.) -- University of Adelaide, School of Medicine, Discipline of Medicine, 2008
Neilsen, Paul Matthew. "Functional analysis of ANKRD11 and FBXO31: two candidate tumour suppressor genes from the 16q24.3 breast cancer loss of heterozygosity region." Thesis, 2008. http://hdl.handle.net/2440/59014.
Повний текст джерелаThesis (Ph.D.) -- University of Adelaide, School of Medicine, Discipline of Medicine, 2008
Allache, Redouane. "Études génétiques moléculaires des gènes de la polarité planaire cellulaire dans les anomalies du tube neural chez l’Homme." Thèse, 2014. http://hdl.handle.net/1866/12084.
Повний текст джерелаNeural tube defects (NTDs) are among the most common congenital malformations in humans affecting 1–2 infants per 1000 births. NTDs are caused by failure of the neural tube to close during embryogenesis. The most common forms of NTDs in humans are anencephaly and spina bifida. Their etiology is complex implicating environmental and genetic factors. Wnt signaling has been classified as canonical Wnt/ β-catenin dependent or non-canonical planar cell polarity (PCP) pathway. Misregulation of either pathway is linked mainly to cancer or neural tube defects (NTDs) respectively. Both pathwaysseem to antagonize each other. In this study, we investigate the role of Lrp6andANKRD6 as molecular switches between both Wnt pathways as well as CELSR1 as PCP member, in a novel ENU mouse mutant of Lrp6 (Skax26m1Jus) and in human NTDs. For Lrp6, we demonstrate that Skax26m1Jus represents a hypermorphic allele of Lrp6 with increased Wnt canonical and abolished PCP-induced JNK activities. We also show that Lrp6Skax26m1Jusgenetically interacts with a PCP mutant (Vangl2Lp) where double heterozygotes showed an increased frequency of NTDs and defects in cochlear hair cells’ polarity. Importantly, our study also demonstrates the association of rare and novel missense mutations in LRP6 that is an inhibitor rather than an activator of the PCP pathway with human NTDs. We show that three LRP6 mutations in NTDs led to a reduced Wnt canonical activity and enhanced PCP signaling. For ANKRD6: We identified four rare missense mutations in 0.8% of the NTD patients and 2 rare missense mutations in 1.3% of the controls. Notably, when all 6 mutations were validated, only two mutations identified in NTD patients, p.Pro548Leu, p.Arg632His, significantly altered DIVERSIN activity in Wnt signaling assays in a hypomorphic fashion. For CELSR1: We identified one nonsense mutation in exon 1 of CELSR1 that truncates the majority of the protein in one NTD patient and one in-frame 12 bp deletion that removes a putative PKC phosphorylation“SSR” motif in one caudal agenesis patient. We also detected a total of 13 novel missense variants in 12 patients (11 NTDs and 1 caudal agenesis) that were predicted to be pathogenic in silico. Our data confirm an inhibitory role of Lrp6 in PCP signaling in neurulation and indicate that rare missense mutations in LRP6 and ANKRD6 could affect a balanced reciprocal and a highly dosage sensitive antagonism between both Wnt pathways in neurulation and act as predisposing factors to NTDs in a subset of patients. Also, our findings implicate CELSR1 as a risk factor for NTDs or caudal agenesis. Our findings provide additional evidence for a pathogenic role of PCP signaling in thesemalformations and an important tool for better understanding their molecular mechanisms.