Relevant bibliographies by topics / ANKRD11

Academic literature on the topic 'ANKRD11'

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Published: 10 December 2022
Last updated: 29 January 2023

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Journal articles on the topic "ANKRD11"

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Zhao, Youshan, Feng Xu, Juan Guo, Sida Zhao, Chunkang Chang, and Xiao Li. "Dysregulation of ANKRD11 Influenced Hematopoisis By Histone Acetylation-Mediated Gene Expression in Myelodysplastic Syndrome." Blood 128, no. 22 (December 2, 2016): 4292. http://dx.doi.org/10.1182/blood.v128.22.4292.4292.

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Abstract Background and Object In addition to histone deacetylation, the importance of histone over-acetylation induced oncogene transcription in initiation and progression of myelodysplastic syndrome (MDS) has been proposed recently. Our previous whole-exome sequencing identified a new somatic mutation, ANKRD11, an important factor in histone acetylation regulation. Its roles in MDS pathophysiology need to be clarified. Methods The next generation target sequencing (Including ANKRD11) was carried out in 320 patients with MDS using the MiSeq Benchtop Sequencer. ANKRD11 mRNA expression in bone marrow of MDS was measured by real-time PCR. Loss and gain of function assay were carried out in myeloid cell lines K562, MEG-01£¬or SKM-1 to observe the influence on cell proliferation and differentiation . The levels of histone acetylation at H3 and H4 were detected by Western blot. Results Target sequencing in a cohort of 320 MDS patients identified 14 of ANKRD11 mutations (4.38%, Fig.1), which were confirmed by Sanger sequencing. Meanwhile, no ANKRD11 mutations in 100 normal controls were defined. ANKRD11 mutations occurred frequently in exons 10 and 9. The mRNA expression levels of ANKRD11 were significantly decreased in MDS patients, especially in ANKRD11mutant patients (Fig.2). ANKRD11 knockdown in K562 and MEG-1 resulted in growth inhibition, cell cycle arrest and erythroid/megakaryocytic differentiation retardant. In MDS cell line SKM-1, the arrested differentiation was rescued by over-expression of ANKRD11. Consistent with a role for ANKRD11 in histone acetylation, ANKRD11 KD increased acetylation of histones H3 and H4 at H3K14 and H4K5 and resulted in the upregulation of genes involved in differentiation inhibilation (SOX6, P21, et al). Finally, the ANKRD11 KD-mediated influence on cell proliferation and differentiation were reversed by inhibiting histone acetyltransferase activity. Conclusion Our assay defined that ANKRD11 was a crucial chromatin regulator that suppress histone acetylation and then decrease gene expression during myeloid differentiation, providing a likely explanation for its role in MDS pathogenesis. This study further support histone acetylase inhibitor as a potential treatment in MDS. Figure ANKRD11mutation distribution (a) and coexist with other mutations (b). Figure. ANKRD11mutation distribution (a) and coexist with other mutations (b). Figure The mRNA expression levels of ANKRD11in our MDS (A, C) subset and GEO data (B). Figure. The mRNA expression levels of ANKRD11in our MDS (A, C) subset and GEO data (B). Changes of histone acetylation in ANKRD11-KD cell line (MEG-01). ANKRD11 KD significantly increased acetylation of histones H3 and H4 at H3K14 and H4K5. Changes of histone acetylation in ANKRD11-KD cell line (MEG-01). ANKRD11 KD significantly increased acetylation of histones H3 and H4 at H3K14 and H4K5. Disclosures No relevant conflicts of interest to declare.
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Gao, Fenqi, Xiu Zhao, Bingyan Cao, Xin Fan, Xiaoqiao Li, Lele Li, Shengbin Sui, Zhe Su, and Chunxiu Gong. "Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature." Journal of Personalized Medicine 12, no. 3 (March 5, 2022): 407. http://dx.doi.org/10.3390/jpm12030407.

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KBG syndrome (KBGS) is a rare autosomal dominant inherited disease that involves multiple systems and is associated with variations in the ankyrin repeat domain 11 (ANKRD11) gene. We report the clinical and genetic data for 13 Chinese KBGS patients diagnosed by genetic testing and retrospectively analyse the genotypes and phenotypes of previously reported KBGS patients. The 13 patients in this study had heterozygous variations in the ANKRD11 gene, including seven frameshift variations, three nonsense variations, and three missense variations. They carried 11 variation sites, of which eight were previously unreported. The clinical phenotype analysis of these 13 patients and 240 previously reported patients showed that the occurrence rates of craniofacial anomalies, dental anomalies, global developmental delays, intellectual disability/learning difficulties, limb anomalies, and behavioural anomalies were >70%. The occurrence rates of short stature, delayed bone age, and spinal vertebral body anomalies were >50%. The frequency of global developmental delays and intellectual disability/learning difficulties in patients with truncated ANKRD11 gene variation was higher than that in patients with missense variation in the ANKRD11 gene (p < 0.05). Collectively, this study reported the genotypic and phenotypic characteristics of the largest sample of KBGS patients from China and discovered eight new ANKRD11 gene variations, which enriched the variation spectrum of the ANKRD11 gene. Variation in the ANKRD11 gene mainly caused craniofacial anomalies, growth and developmental anomalies, skeletal system anomalies, and nervous system anomalies. Truncated variation in the ANKRD11 gene is more likely to lead to global growth retardation and intellectual disability/learning difficulties than missense variation in ANKRD11.
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Bestetti, Ilaria, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Marie Falkenberg Smeland, Swati Naik, et al. "Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome." International Journal of Molecular Sciences 23, no. 11 (May 25, 2022): 5912. http://dx.doi.org/10.3390/ijms23115912.

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KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 (ANKRD11) haploinsufficiency. Here, we report the molecular investigations performed on a cohort of 33 individuals with KBGS clinical suspicion. By using a multi-testing genomic approach, including gene sequencing, Chromosome Microarray Analysis (CMA), and RT-qPCR gene expression assay, we searched for pathogenic alterations in ANKRD11. A molecular diagnosis was obtained in 22 out of 33 patients (67%). ANKRD11 sequencing disclosed pathogenic or likely pathogenic variants in 18 out of 33 patients. CMA identified one full and one terminal ANKRD11 pathogenic deletions, and one partial duplication and one intronic microdeletion, with both possibly being pathogenic. The pathogenic effect was established by RT-qPCR, which confirmed ANKRD11 haploinsufficiency only for the three deletions. Moreover, RT-qPCR applied to six molecularly unsolved KBGS patients identified gene downregulation in a clinically typical patient with previous negative tests, and further molecular investigations revealed a cryptic deletion involving the gene promoter. In conclusion, ANKRD11 pathogenic variants could also involve the regulatory regions of the gene. Moreover, the application of a multi-test approach along with the innovative use of RT-qPCR improved the diagnostic yield in KBGS suspected patients.
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Parenti, Ilaria, Mark B. Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Emanuele Agolini, Beate Albrecht, et al. "ANKRD11 variants: KBG syndrome and beyond." Clinical Genetics 100, no. 2 (May 14, 2021): 187–200. http://dx.doi.org/10.1111/cge.13977.

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Kojić, Snežana. "MARP Protein Family: A Possible Role in Molecular Mechanisms of Tumorigenesis." Journal of Medical Biochemistry 29, no. 3 (July 1, 2010): 157–64. http://dx.doi.org/10.2478/v10011-010-0024-9.

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MARP Protein Family: A Possible Role in Molecular Mechanisms of TumorigenesisThe MARP (muscle ankyrin repeat protein) family comprises three structurally similar proteins: CARP/Ankrd1, Ankrd2/Arpp and DARP/Ankrd23. They share four conserved copies of 33-residue ankyrin repeats and contain a nuclear localization signal, allowing the sorting of MARPs to the nucleus. They are found both in the nucleus and in the cytoplasm of skeletal and cardiac muscle cells, suggesting that MARPs shuttle within the cell enabling them to play a role in signal transduction in striated muscle. Expression of MARPs is altered under different pathological conditions. In skeletal muscle, CARP/Ankrd1 and Ankrd2/Arpp are up-regulated in muscle in patients suffering from Duchene muscular dystrophy, congenital myopathy and spinal muscular atrophy. Mutations inAnkrd1gene (coding CARP/Ankrd1) were identified in dilated and hypertrophic cardiomyopathies. Altered expression of MARPs is also observed in rhabdomyosarcoma, renal oncocytoma and ovarian cancer. In order to functionally characterize MARP family members CARP/Ankrd1 and Ankrd2/Arpp, we have found that both proteins interact with the tumor suppressor p53 bothin vivoandin vitroand that p53 up-regulates their expression. Our results implicate the potential role of MARPs in molecular mechanisms relevant to tumor response and progression.
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Neilsen, P. M., K. M. Cheney, C. W. Li, J. D. Chen, J. E. Cawrse, R. B. Schulz, J. A. Powell, R. Kumar, and D. F. Callen. "Identification of ANKRD11 as a p53 coactivator." Journal of Cell Science 121, no. 21 (October 7, 2008): 3541–52. http://dx.doi.org/10.1242/jcs.026351.

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Kim, Hyo Jeong, Eunhae Cho, Jong Bum Park, Woo Young Im, and Hyon J. Kim. "A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion." European Journal of Medical Genetics 58, no. 2 (February 2015): 86–94. http://dx.doi.org/10.1016/j.ejmg.2014.11.003.

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Youngs, Erin L., Jessica A. Hellings, and Merlin G. Butler. "ANKRD11 gene deletion in a 17-year-old male." Clinical Dysmorphology 20, no. 3 (July 2011): 170–71. http://dx.doi.org/10.1097/mcd.0b013e328346f6ae.

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Lim, Sue Ping, Nick C. Wong, Rachel J. Suetani, Kristen Ho, Jane Lee Ng, Paul M. Neilsen, Peter G. Gill, Raman Kumar, and David F. Callen. "Specific-site methylation of tumour suppressor ANKRD11 in breast cancer." European Journal of Cancer 48, no. 17 (November 2012): 3300–3309. http://dx.doi.org/10.1016/j.ejca.2012.03.023.

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Sacharow, Stephanie, Deling Li, Yao Shan Fan, and Mustafa Tekin. "Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome." American Journal of Medical Genetics Part A 158A, no. 3 (February 3, 2012): 547–52. http://dx.doi.org/10.1002/ajmg.a.34436.

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Dissertations / Theses on the topic "ANKRD11"

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Ackermann, 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.

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Jimenez, 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.

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Fütterer, Jane Wong. "Characterisation of a novel protein, ANKRD18A, implicated in a severe form of thrombocytopenia." Thesis, University of Birmingham, 2017. http://etheses.bham.ac.uk//id/eprint/7511/.

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Platelets (thrombocytes) mediate clot formation following vessel injury. Inherited thrombocytopenias, characterised by platelet counts below 150 x 109 L-1, have variable bleeding severity. Whole exome sequencing of two cousins with severe thrombocytopenia identified a shared single-codon deletion in ANKRD18A. ANKRD18A’s function is unknown. We hypothesise that this mutation in ANKRD18A is the aetiology of these children’s thrombocytopenia. Despite limited patients’ blood, quantitative real-time polymerase chain reaction demonstrated reduced ANKRD18A mRNA levels in patient leukocytes compared to controls. Patients’ platelets demonstrated decreased activity when stimulated with adenosine diphosphate, collagen related peptide and the synthetic peptide SFLLRN, which mimics the N-terminal sequence of protease activated receptors. Electron microscopy demonstrated macrothrombocytopenia. To assist characterisation studies, a recombinant fragment of ANKRD18A, the ankyrin repeat domain, was purified to generate a polyclonal antibody, α-25277. Experiments demonstrated possible specificity of α-25277. Cellular functions of ANKRD18A remain unclear, yet the availability of α-25277, once better characterised, will be instrumental in demonstrating the potential link between ANKRD18A and the observed thrombocytopenia. Another in-house antibody, α-21234, may also be effective. Antibody specificity can be proven by immunoblotting lysates of cells, where ANKRD18A is silenced by RNAi. Should both antibodies not be specific, generating a monoclonal antibody is requisite.
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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.

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Les thrombopénies héréditaires sont une classe de maladies hématologiques congénitaux affectant principalement la lignée mégacaryocytaire. Elle s’accompagnant d'une diminution du nombre de plaquettes. Près de 50 gènes différents ont été associés à des thrombopénies héréditaires, et d'énormes différences existent entre chaque maladie, en ce qui concerne la manifestation clinique et la pathobiologie. Mes recherches ont porté sur deux thrombopénies héréditaires différentes: Filaminopathie A et THC2. La première maladie est un syndrome X-linked, associé à des mutations dans le gène FLNA (Filamine A). Ces patients, sur le point de vue hématologique, présentent une macrothrombopénie associée à une tendance à saigner toute la vie. La seconde maladie est transmise selon une mécanisme autosomale dominante, et elle est provoquée par des mutations dans le 5’ UTR du gène ANKRD26. Les patients montre une dysmégacaryopoïèse, une thrombopénie et un risque accru de développer des tumeurs malignes myéloïdes. Pour étudier la physiopathologie de ces deux maladies rares, j'ai exploité la technologie des cellules souches pluripotentes induites, pour développer plusieurs lignées cellulaires spécifiques au patient. Ces outils expérimentaux ont permis la compréhension de la physiopathologie pour les deux maladies, et m'ont permis de décrire en grand détail les mécanismes moléculaires sous-tendant le defaut de la formation de proplaquettes pour la Filaminopatie A, et la prédisposition à la leucémie pour la THC2. Pour effectuer de telles études, nous avons conçu un protocole de différenciation robuste, récapitulant efficacement la différenciation hématopoïetique et facilement adapté à la différenciation in vitro des plusieurs lignées cellulaires. En plus, nous avons exploité une technique de modification du génome pour introduire efficacement différents mutants, afin de disséquer le rôle moléculaire de la FLNa dans la mégacaryopoïèse.En ce qui concerne la filaminopathie A, nous avons pu décrire une relation originale entre une intégrine membranaire (IIb3), la Filamine A et une voie de signalization curciale (RhoA) pour la mégacaryopoïèse. Nos données supportent un modèle où l’absence de la FLNa induit une activité anormale de la voie RhoA, en réponse au lien entre l'intégrine IIb3 et le fibrinogène. Concernant la THC2, nous avons décrit un nouveau mécanisme associant l'augmentation de l'expression de ANKRD26 à une activité dérégulée de la voie de signalisation dépendante du G-CSF. Cette anomalie affecte la granulopoïèse et conduit à une amplification anormale de cette lignée cellulaire, augmentant éventuellement le risque d'acquisition d'autres mutations et de progression vers une leucémie myéloïde.En conclusion, avec ce travail, nous offrons une preuve de concept de la potentialité de cellules souches pluripotentes induites pour la modélisation de maladies. Nos résultats ouvrent la voie à d'autres études susceptibles de faire progresser notre compréhension de la physiopathologie des troubles plaquettaires héréditaires
Inherited 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 (IIb3), 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 IIb3 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
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Roy, Sébastien. "Étude des mécanismes gouvernant le transport intracellulaire et le contrôle de qualité des RCPG." Thèse, Université de Sherbrooke, 2014. http://savoirs.usherbrooke.ca/handle/11143/154.

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Les récepteurs couplés aux protéines G (RCPG) constituent la plus grande famille de protéines transmembranaires et régulent une panoplie de processus physiologiques. La densité de récepteurs exprimés à la surface d'une cellule dicte l’intensité de la réponse cellulaire suite à l’activation par un ligand. Un débalancement dans les niveaux d’expressions protéiques est la cause de plusieurs pathologies. C’est pourquoi il est d’une importance capitale de comprendre les mécanismes qui régissent les niveaux d’expressions totaux et membranaires des RCPG. Dans un premier temps, nos travaux ont permis de caractériser la dynamique d’internalisation et de recyclage du récepteur CRTH2. Nous avons identifié les domaines qui sont impliqués dans la régulation du trafic du récepteur. Des essais d’expression de surface ont révélé les cibles majeures des GRK2, GRK5, de la PKC et de l’arrestine-3 pour l’internalisation de CRTH2 suite à une stimulation du récepteur. De plus, nous rapportons la présence d’un motif de recyclage interne de type PDZ dans la queue cytoplasmique de CRTH2. Avant de se rendre à la membrane plasmique, les RCPG doivent être synthétisés au réticulum endoplasmique (RE), subir des étapes de maturation au Golgi et être transportés à la membrane plasmique. Les évènements coordonnant ces processus sont encore très peu étudiés. La dernière partie de nos travaux a permis d’élucider différents mécanismes régulant le contrôle qualité des RCPG à un stade précoce de synthèse. Tout d’abord, une nouvelle stratégie de purification protéomique a été développée et validée dans le but d’identifier des nouveaux partenaires d’interaction des RCPG dans un contexte cellulaire. Les résultats des criblages ont montré une interaction entre le récepteur [beta indice inférieur 2]AR et l’ubiqutine ligase RNF5. Ceci a conduit à la découverte d’un nouveau mécanisme de contrôle qualité des RCPG faisant intervenir les protéines RNF5 et JAMP comme étant des composantes importantes d’un système de régulation qui module la stabilité des RCPG. En dernier lieu, une nouvelle protéine, ANKRD13A, régulerait l’expression des RCPG par un mécanisme encore inconnu. Des évidences nous permettent de croire que les protéines RNF5, JAMP et ANKRD13A feraient partie d’un complexe protéique régulant le contrôle qualité des RCPG au RE.
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Rostamirad, 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.

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The outer segment is a specialized region of rod and cone photoreceptor cells located in vertebrate retina. It features stacks of membranous discs containing visual pigment molecules, and the membranous structures undergo continuous renewal process. In order to better understand the cellular mechanisms in the outer segment, Kwok et al. (2008) used tandem mass spectrometry on bovine rod outer segment preparations, and identified many proteins of unknown function, one of which was ankyrin repeat domain 33 (ankrd33). Ankrd33 belongs to the ankyrin repeat protein class, which has been described to be involved in a variety of functions, such as cell-cell signalling and cytoskeleton structure. However, the function and localization of Ankrd33 have not been previously investigated. In this project, ankrd33 was cloned from bovine retinal cDNA and RT-PCR experiments showed a retina specific gene expression of this protein. In addition, monoclonal antibodies were raised against N and C-termini of ankrd33. These antibodies were used to localize the protein in retina. In addition, they were used to identify the interacting partners of ankrd33 in photoreceptors. Ankrd33 was found to be exclusively expressed in the outer segments of photoreceptor cells and co-immunoprecipitation studies identified hippocalcin like 1 protein (HPCAL-1) as one of the interacting partners. HPCAL-1 belongs to the family of proteins called neuronal calcium sensors (NCS) which are EF-hand containing Ca2+-binding proteins and expressed in different neuronal cells. These proteins are involved in calcium modulation of numerous cellular activities based on the cell type and their interacting partners. As a first step in identifying the possible cellular pathways that ankrd33 and HPCAL-1 might be involved in, monoclonal antibodies were produced against the full length of HPCAL-1 and were used for immunofluorescence studies and in vitro confirmation of the interaction between the two proteins. Immunofluorescence studies showed labelling of ankr33 and HPCAL-1 in rod and cone outer segment with cone outer segment having a stronger signal. These results showed that ankrd33 and HPCAL-1 are both highly expressed in the cone outer segment and these proteins may be involved in calcium dependent-cone specific pathways.
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Papanikos, 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.

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Duffus, 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.

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RA is a chronic and disabling disease with no known cure. The disease has a strong genetic component and modern genetic studies have successfully identified over 100 loci associated with the onset of RA. Despite the number of associations identified, the full genetic component of RA is not known, and for the majority of the loci the causal variant remains unknown. The overall aim of this study was to utilise well-powered genetic data, in order to identify novel loci, refine genetic associations, and generate robust evidence for the causal SNP and causal gene at a selected RA locus. An initial analysis was undertaken utilising 3870 RA cases and 8430 controls from the UK-ImmunoChip, a study designed for comprehensive fine-mapping of confirmed RA susceptibility loci. Analysis of the UK-ImmunoChip data identified a novel finding with the TYK2 locus, and proved informative to refining association signals, illustrating the utility of fine-mapping and implicated SNPs with putative regulatory function. The UK-ImmunoChip was subsequently expanded to incorporate samples from five additional cohorts in a study led by Dr. Stephen Eyre. In additional to novel loci discovery, this study provided evidence for SNPs putatively associated with RA (P smaller or equal to5E-05 < 5E-08). In a combined meta-analysis of 17,581 cases and 20,160 controls, convincing evidence was obtained for two novel RA loci, BACH2 and RAD51B.The newly identified genes implicate two novel pathways in RA (B-cell differentiation and DNA repair) and add to the growing number of loci associated with multiple AIDs. These findings are important to aid comprehensive pathway analysis and add to the knowledge of RA risk genes. The third most associated RA locus in both serological subtypes of disease, with an uncharacterised protein, ANKRD55, was subsequently selected for in-depth characterisation. Utilising genetic and haplotypic analysis the association at this locus was refined to a single signal, with four SNPs in strong LD (r2 > 0.8). Through bioinformatic analysis, two SNPs rs6859219 and rs10065637 showed evidence for functional activity, with evidence of being located in an enhancer element, supported by histone marks, DNAse hypersensitivity, evidence of transcription factor binding and eQTL. The use of RNA and ChIP experiments have established a testable hypothesis that the presence of the putative causal variants rs6859219 and rs10065637, act to weaken the strength of the enhancer element in which they are located, (evidenced by diminished H3k4me1 modification), which in turn down-regulates the transcriptional output of the target gene ANKRD55 (evidenced by eQTL in both whole blood and CD4+ T cells).In summary this study has led to the identification of three novel loci, highlighted the importance of fine-mapping and developed a successful systemic strategy for the characterisation of the 5q11 risk locus associated with RA.
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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.

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Lim, Sue Ping. "Epigenetics in cancer : basic and translational aspects." Thesis, 2012. http://hdl.handle.net/2440/86747.

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This thesis investigates epigenetics in cancer with particular emphasis on breast cancer. There are two major themes, see Figure above. The first theme relates to the potential for assessing and developing more efficient epigenetic drugs while the second theme investigates mechanism of downregulation of ANKRD11, a putative tumour suppressor gene, in human breast cancer. This thesis is in the publication format with Chapters 1 and 3 as published articles, Chapter 2 submitted for publication and Chapter 4 as a manuscript in preparation. Theme 1: To improve the epigenetic-based therapeutic approach (Chapter 1 and 2) One of the roles that epigenetics plays in cancer development is the inhibition of transcription of tumour suppressor genes. Chapter 1, published as a review in Biodrugs, examines the knowledge of currently available therapeutic approaches related to epigenetic mechanisms such as DNA methylation for cancer treatment. Drug-related issues that could influence the application of therapeutics for clinical use are reviewed and possible developments to improve the clinical use of the drugs explored. Epigenetic-based drugs are emerging as anti-cancer therapies in the clinic. Existing demethylating agents have poor pharmacological properties that limit their clinical use, and the application of nano-based encapsulation to resolve these issues is discussed. Chapter 2, submitted as an original research article to Biodrugs, presents the development and assessment of an assay to allow comparison of epigenetic-related drugs in a high throughput format. Decitabine is encapsulated in a liposomal formulation and the potency of this newly formulated decitabine and existing drugs are effectively compared using the developed assay system. Further development and validation of the assay system and the liposomal formulated decitabine, not included in the submitted manuscript are included as supplementary data. Theme 2: Investigation of gene silencing mechanism of tumour suppressor ANKRD11 (Chapter 3 and 4) ANKRD11 is novel gene that was previously characterised in our laboratory, and found to be a putative tumour suppressor gene and a p53-coactivator (Neilsen et al. 2008). Chapter 3, published in European Journal of Cancer, investigates the mechanism of downregulation of ANKRD11 in human breast cancer. This chapter identifies the promoter sequence of ANKRD11, demonstrates the critical region of the ANKRD11 promoter subjected to DNA methylation, and associates the DNA methylation levels of ANKRD11 with its gene expression and clinical data. Further analysis of the DNA methylation pattern of this gene revealed a putative GLI1 transcription-factor binding site within the localised region of the promoter that is methylated. Chapter 4, presented as a manuscript in preparation, further explores the relationship between ANKRD11 and GLI1 in breast cancer. GLI1 is a Hedgehog signalling transcription factor, which has been shown to be involved in breast cancer development. This study analyses the transcriptional activity of ANKRD11 in the cells overexpressed with GLI1 and quantifies differential expression of these two genes in different stages of breast cancer. Future experiments to confirm and extend these exciting preliminary findings are discussed. The final chapter of this thesis summarises the findings of these studies and possible future research directions. The impact of these findings for the development of anti-cancer drugs, and the possible role of expression of ANKRD11 and GLI1 in breast cancer are highlighted.
Thesis (Ph.D.) -- University of Adelaide, School of Medicine, 2012
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Conference papers on the topic "ANKRD11"

1

Boriek, Aladin M., and Junaith S. Mohamed. "Knockdown Of Desmin Protein By SiRNA Up-regulates Ankrd1 Through Akt/NF-kB Signaling Pathway And Turns Ankrd1 Into Mechanosensitive In Human Airway Smooth Muscle Cells." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a5316.

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Lee, Ting-Fang, Yen-Fan Lin, Ying-Pu Liu, and Cheng-Wen Wu. "Abstract 5508: ANKRD52 inhibited tumor metastasis in lung adenocarcinoma." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-5508.

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Lopez, MA, JS Mohamed, PS Pardo, and AM Boriek. "Does the Mechanosensitive NF-κB Regulate ANKRD1 in the Muscular Dystrophy with Myositis (mdm)Diaphragm?." In American Thoracic Society 2009 International Conference, May 15-20, 2009 • San Diego, California. American Thoracic Society, 2009. http://dx.doi.org/10.1164/ajrccm-conference.2009.179.1_meetingabstracts.a6131.

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Lei, Ying, Beric Ross Henderson, Catherine Emmanuel, Paul Harnett, and Anna de Fazio. "Abstract 4616: Chemo-sensitisation in epithelial ovarian cancer cell lines by targeting Ankyrin Repeat Domain 1 (ANKRD1)." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-4616.

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5

Lin, Yen-Fan, Ying-Pu Liu, Ting-Fang Lee, and Cheng-Wen Wu. "Abstract 4843: ANKRD52 inhibited tumor metastasis through dephosphorylation of PAK1 in lung adenocarcinoma." In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-4843.

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Lee, Ting-Fang, Yin-Pu Liu, Yen-Fan Lin, Chong-Fang Hsu, and Cheng-Wen Wu. "Abstract 1782: ANKRD52 inhibited tumor metastasis through dephosphorylation of PAK1 in lung adenocarcinomas." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-1782.

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Lee, Ting-Fang, Yin-Pu Liu, Yen-Fan Lin, Chong-Fang Hsu, and Cheng-Wen Wu. "Abstract 1782: ANKRD52 inhibited tumor metastasis through dephosphorylation of PAK1 in lung adenocarcinomas." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-1782.

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8

"Differentially methylation of ANKRD53 and GATA3 genes in human miscarriages with trisomy 16." In Bioinformatics of Genome Regulation and Structure/ Systems Biology. institute of cytology and genetics siberian branch of the russian academy of science, Novosibirsk State University, 2020. http://dx.doi.org/10.18699/bgrs/sb-2020-079.

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9

Qian, J., and S. Nan. "307 The pathogenic mechanisms of systemic lupus erythematosus associated genes pnp, plekhf2 and ankrd44." In LUPUS 2017 & ACA 2017, (12th International Congress on SLE &, 7th Asian Congress on Autoimmunity). Lupus Foundation of America, 2017. http://dx.doi.org/10.1136/lupus-2017-000215.307.

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Song, Tianyu Y., Haixin Zhao, Hongjie Fan, Min Long, Chenlu Geng, Xiaoxiao Xie, Yang Liu, et al. "Abstract 2154: Immune pressure selects ANKRD52 mutations for cancer cells to escape T cell-mediated killing." In Proceedings: AACR Annual Meeting 2020; April 27-28, 2020 and June 22-24, 2020; Philadelphia, PA. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1538-7445.am2020-2154.

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