Relevant bibliographies by topics / ANKRD26

Academic literature on the topic 'ANKRD26'

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Published: 11 March 2023

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Journal articles on the topic "ANKRD26"

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Husnain, Muhammad, Trent Wang, Maikel Valdes, James Hoffman, and Lazaros Lekakis. "Multiple Myeloma in a Patient with ANKRD26-Related Thrombocytopenia Successfully Treated with Combination Therapy and Autologous Stem Cell Transplant." Case Reports in Hematology 2019 (June 2, 2019): 1–3. http://dx.doi.org/10.1155/2019/9357572.

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Ankyrin repeat domain-containing protein 26- (ANKRD26-) related thrombocytopenia is a rare, autosomal dominant condition caused by ANKRD26 gene mutation. ANKRD26-related thrombocytopenia is characterized by moderate thrombocytopenia with minimal bleeding, normal platelet size, and dysmegakaryopoiesis on bone marrow evaluation. ANKRD26 mutation has been previously associated with myeloid malignancies, including acute myeloid leukemia, myelodysplastic syndrome, and chronic myeloid leukemia. We report the first case of multiple myeloma in a patient with ANKRD26 related thrombocytopenia. The patient was successfully treated with contemporary combination therapy followed by melphalan-conditioned autologous stem cell transplant for his multiple myeloma despite preexisting thrombocytopenia.
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Necchi, Vittorio, Alessandra Balduini, Patrizia Noris, Serena Barozzi, Patrizia Sommi, Christian di Buduo, Carlo Balduini, Enrico Solcia, and Alessandro Pecci. "Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombocytopenia." Thrombosis and Haemostasis 109, no. 02 (2013): 263–71. http://dx.doi.org/10.1160/th12-07-0497.

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SummaryANKRD26-related thrombocytopenia (ANKRD26-RT) is an autosomaldominant thrombocytopenia caused by mutations in the 5’UTR of the ANKRD26 gene. ANKRD26-RT is characterised by dysmegakaryopoiesis and an increased risk of leukaemia. PaCSs are novel particulate cytoplasmic structures with selective immunoreactivity for polyubiquitinated proteins and proteasome that have been detected in a number of solid cancers, in the epithelia of Helicobacter pylori gastritis and related preneoplastic lesions, and in the neutrophils of Schwachman- Diamond syndrome, a genetic disease with neutropenia and increased leukaemia risk. We searched for PaCSs in blood cells from 14 consecutive patients with ANKRD26-RT. Electron microscopy combined with immunogold staining for polyubiquitinated proteins, 20S and 19S proteasome showed PaCSs in most ANKRD26-RT platelets, as in a restricted minority of platelets from healthy controls and from subjects with other inherited or immune thrombocytopenias. In ANKRD26-RT platelets, the PaCS amount exceeded that of control platelets by a factor of 5 (p<0.0001). Immunoblotting showed that the higher PaCS number was associated with increased amounts of polyubiquitinated proteins and proteasome in ANKRD26-RT platelets. PaCSs were also extensively represented in ANKRD26-RT megakaryocytes, but not in healthy control megakaryocytes, and were absent in other ANKRD26-RT and control blood cells. Therefore, large amounts of PaCSs are a characteristic feature of ANKRD26-RT platelets and megakaryocytes, although these novel cell components are also present in a small subpopulation of normal platelets. The widespread presence of PaCSs in inherited diseases with increased leukaemia risk, as well as in solid neoplasms and their preneoplastic lesions, suggests a link of these structures with oncogenesis.
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Erdomaeva, Ya A., D. V. Fedorova, P. A. Zharkov, M. A. Kurnikova, S. G. Mann, and E. V. Raykina. "ANKRD26-related thrombocytopenia: case report and literature review of inherited thrombocytopenias with predisposition to malignancies." Pediatric Hematology/Oncology and Immunopathology 18, no. 3 (September 13, 2019): 54–61. http://dx.doi.org/10.24287/1726-1708-2019-18-3-54-61.

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ANKRD26-related thrombocytopenia (previously known as thrombocytopenia-2) is a rare form of inherited platelet disorders. Patients with ANKRD26-related thrombocytopenia usually do not suffer from severe bleeding but have predisposition to acute myeloid leukemia and other malignancies. Patients with ANKRD26-related thrombocytopenia and their relatives need genetic consultation and long term follow-up in view of risk of malignant blood disorders. The clinical case of ANKRD26-related thrombocytopenia in two siblings is presented in this paper. Review of literary data on pathogenesis, treatment and follow-up of patients with ANKRD26-related thrombocytopenia is performed. Common questions of diagnosis and management in patients with congenital thrombocytopenias with predisposition to malignant blood disorders are also reviewed. Parents gave their permission for using personal data for clinical research and publications.
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Noris, Patrizia, Silverio Perrotta, Marco Seri, Alessandro Pecci, Chiara Gnan, Giuseppe Loffredo, Nuria Pujol-Moix, et al. "Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families." Blood 117, no. 24 (June 16, 2011): 6673–80. http://dx.doi.org/10.1182/blood-2011-02-336537.

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Abstract Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare form of autosomal dominant thrombocytopenia and only 2 families were known. However, we recently identified mutations in the 5′-untranslated region of the ANKRD26 gene in 9 THC2 families. Here we report on 12 additional pedigrees with ANKRD26 mutations, 6 of which are new. Because THC2 affected 21 of the 210 families in our database, it has to be considered one of the less rare forms of inherited thrombocytopenia. Analysis of all 21 families with ANKRD26 mutations identified to date revealed that thrombocytopenia and bleeding tendency were usually mild. Nearly all patients had no platelet macrocytosis, and this characteristic distinguishes THC2 from most other forms of inherited thrombocytopenia. In the majority of cases, platelets were deficient in glycoprotein Ia and α-granules, whereas in vitro platelet aggregation was normal. Bone marrow examination and serum thrombopoietin levels suggested that thrombocytopenia was derived from dysmegakaryopoiesis. Unexplained high values of hemoglobin and leukocytes were observed in a few cases. An unexpected finding that warrants further investigation was a high incidence of acute leukemia. Given the scarcity of distinctive characteristics, the ANKRD26-related thrombocytopenia has to be taken into consideration in the differential diagnosis of isolated thrombocytopenias.
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Guison, Jérôme, Gilles Blaison, Oana Stoica, Remy Hurstel, Marie Favier, and Remi Favier. "Idiopathic pulmonary embolism in a case of severe family ANKRD26 thrombocytopenia." Mediterranean Journal of Hematology and Infectious Diseases 9, no. 1 (June 16, 2017): e2017038. http://dx.doi.org/10.4084/mjhid.2017.038.

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Venous thrombosis affecting thrombocytopenic patients is challenging. We report the case of a thrombocytopenic woman affected by deep vein thrombosis and pulmonary embolism leading to the discovery of a heterozygous mutation in the gene encoding ankyrin repeat domain 26 (ANKRD26) associated with a heterozygous factor V (FV) Leiden mutation. This woman was diagnosed with left lower-limb deep vein thrombosis complicated by pulmonary embolism. Severe thrombocytopenia was observed. The genetic study evidenced a heterozygous FV Leiden mutation. Molecular study sequencing was performed after learning that her family had a history of thrombocytopenia. Previously described heterozygous mutation c-127C>A in the 5′ untranslated region (5′UTR) of the ANKRD26 gene was detected in the patient, her aunt, and her grandmother. ANKRD26-related thrombocytopenia and thrombosis are rare. This is, to our knowledge, the first case reported in the medical literature. This mutation should be screened in patients with a family history of thrombocytopenia.
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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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Vincenot, Anne, Marie-Françoise Hurtaud-Roux, Olivier René, Sylvie Binard, Odile Fenneteau, and Nicole Schlegel. "ANKRD26 normocytic thrombocytopenia: a family report." Annales de biologie clinique 74, no. 3 (May 2016): 317–22. http://dx.doi.org/10.1684/abc.2016.1142.

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Noris, Patrizia, Remi Favier, Marie-Christine Alessi, Amy E. Geddis, Shinji Kunishima, Paula G. Heller, Paola Giordano, et al. "ANKRD26-related thrombocytopenia and myeloid malignancies." Blood 122, no. 11 (September 12, 2013): 1987–89. http://dx.doi.org/10.1182/blood-2013-04-499319.

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Morozova, D. S., A. A. Martyanov, M. A. Panteleev, P. A. Zharkov, D. V. Fedorova, and A. N. Sveshnikova. "Observation of granulocyte function during ex vivo thrombus formation for patients with ANKRD26-associated thrombocytopenia." Pediatric Hematology/Oncology and Immunopathology 19, no. 1 (March 28, 2020): 27–34. http://dx.doi.org/10.24287/1726-1708-2020-19-1-27-34.

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ANKRD26-associated thrombocytopenia is a non-syndromic hereditary thrombocytopenia for which there are currently no formal diagnostic criteria. It is known that the probability of myeloid leukemia in patients with pathogenetic variants in the ANKRD26 gene significantly increases, however, studies of the functioning of granulocytes in this pathology have not been conducted. Aims: Analysis of the functioning of granulocytes and platelets during ex vivo thrombosis in patients with ANKRD26-associated thrombocytopenia. The study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology. Two patients and 10 healthy volunteers were included in the study. Intracellular signaling and platelet functional responses were observed by continuous flow cytometry. Ex vivo thrombus formation and granulocyte functioning were observed on a fluorescence microscope in parallel-plane flow chambers containing fibrillar collagen. Upon physiological activation (ADP, collagen) of patients’ platelets in vitro, there were no significant differences between the platelets of patients and healthy donors. However, the observed ex vivo size of platelet aggregates was significantly reduced in comparison with healthy donors and published data on patients with other thrombocytopenias. The observed number and activity (movement velocity) of granulocytes of patients was within normal values. However, significant morphological differences were observed for granulocytes of patients compared with granulocytes of healthy donors: there was an increased spreading of granulocytes, in particular, expressed in a large number of thin pseudopodia, as well as an increased curvature of the motion trajectories of granulocytes. Ex vivo observation of thrombus formation in patients with ANKRD26- associated thrombocytopenia, a significantly reduced thrombus size is observed with normal platelet activity and increased variability in the shape of granulocytes.
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Gnan, Chiara, Patrizia Noris, Felisa C. Molinas, Shinji Kunishima, Paula Graciela Heller, Akihiro Iguchi, Alessandro Pecci, et al. "Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression." Blood 118, no. 21 (November 18, 2011): 708. http://dx.doi.org/10.1182/blood.v118.21.708.708.

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Abstract Abstract 708 Thrombocytopenia 2 (THC2, MIM 188000) is an autosomal dominant form of thrombocytopenia described for the first time in a large Italian family, which allowed us to map a locus on 10p11.1-p12. Since the recent identification of ANKRD26 (Pippucci et al, Am J Hum Genet 88:115, 2011), as the gene responsible for the disease, the screening led to recognition of 25 families (91 patients). Although most families were of Italian origin, patients were also from North America, Argentina, Senegal, Japan and Spain, indicating that the disease is distributed worldwide. Confirming recently published data (Noris et al, Blood 117:6673, 2011), this cohort showed that thrombocytopenia was moderate and bleeding tendency was usually mild. Most patients were characterized by deficiency of both glycoprotein Ia and a-granules but normal platelet aggregation in vitro. Bone marrow examination and serum thrombopoietin levels were indicative of dysmegakaryopoiesis. Moreover, there was evidence of leukemia risk in patients with ANKRD26 mutations. The 12 mutations identified so far are all localized in a short stretch of 22 nucleotides of the 5' untranslated region (5'UTR). The effect of three mutations was evaluated in a reporter gene assay with the luciferase gene under the control of the wild type and mutated 5'UTR. When constructs were transfected in K562 and undifferentiated DAMI cell lines, no significant difference in luciferase activity was observed. However, when the constructs were transfected in megakaryocytes obtained from differentiation of the DAMI cells, a significant increase in activity was reported, suggesting that the 5'UTR plays a regulatory role of the ANKRD26 expression during megakaryopoiesis (Pippucci et al, Am J Hum Genet 88:115, 2011). To further investigate the mechanisms responsible for the ANKRD26 expression, we tested the activity of a putative regulatory region (730 bp), containing 574 bp upstream of the transcription initiation site and the 5'UTR. The effect of two mutations (c.-128G>A and c.-116C>T) was evaluated in both orientations using a luciferase assay in HeLa cells. There was no significant difference between wild type and mutated inserts cloned in either sense or antisense orientation, though there was a slight transcriptional increase of the sense mutated constructs and a reduction of the antisense mutated sequences in comparison with the wild type inserts. In order to test the promoter region in a more suitable model, the same constructs were transfected in DAMI differentiated megakaryocytes. Whereas the antisense wild type and mutated constructs did not show any transcriptional activity, the sense mutated constructs generated a statistically significant increase of activity, suggesting that the mechanisms controlling the expression of ANKRD26 are different in the two cell lines. The role of 5'UTR was further investigated by testing a fragment (574 bp) in which 5'UTR was deleted. In megakaryocytes, this sequence generated a statistically significant increase of the luciferase activity compared to the 730 bp insert. On the contrary, the same constructs transfected in Hela cells resulted in a reduction of the luciferase activity. From these preliminary data we hypothesize that the 5'UTR region plays an important role inhibiting the ANKRD26 expression during megakaryopoiesis through the binding of factors, whose recognition sites are destroyed by mutations identified in patients. Consistent with this hypothesis, ANKRD26 is expressed in human CD34+ and BFU-E but hardly detectable in CD41+ cells. Disclosures: No relevant conflicts of interest to declare.
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Dissertations / Theses on the topic "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.

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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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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.

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Adaptive responses of skeletal muscle regulate the nuclear shuttling of the sarcomeric protein Ankrd2 that can transduce different stimuli into specific adaptations by interacting with both structural and regulatory proteins. In a genome-wide expression study on Ankrd2 knockout or overexpressing primary proliferating or differentiating myoblasts, we found an inverse correlation between Ankrd2 levels and the expression of proinflammatory genes and identified Ankrd2 as a potent repressor of inflammatory responses through direct interaction with the NF-kB repressor subunit p50. In particular, we identified Gsk3ß as a novel direct target of the p50:Ankrd2 repressosome dimer and found that the recruitment of p50 by Ankrd2 is dependent on Akt2-mediated phosphorylation of Ankrd2 upon oxidative stress during myogenic differentiation. Surprisingly, the absence of Ankrd2 in slow muscle negatively affected the expression of cytokines and key calcineurin-dependent genes associated with the slow-twitch muscle program. Thus, our findings support a model in which alterations in Ankrd2 protein and phosphorylation levels modulate the balance between physiological and pathological inflammatory responses in muscle.
Abstract (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.
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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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Ng, 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.

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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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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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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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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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Lin, Yen-Fan, and 林妍汎. "Inhibition of lung adenocarcinoma metastasis by ANKRD52." Thesis, 2017. http://ndltd.ncl.edu.tw/handle/39915447171426219015.

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Conference papers on the topic "ANKRD26"

1

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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Mohamed, Junaith S., Michael A. Lopez, and Aladin M. Boriek. "Anisotropic Mechanical Stretch Up-regulates Ankrd2 Expression Through Two Distinct Signaling Pathways In Skeletal Muscle." 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.a6374.

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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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"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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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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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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Ma, Jian yang, Xiao Han, Bo Qu, and Nan Shen. "82 Decreased expression of ANKRD44 associates with the overactivation of type I IFN signaling pathway in SLE." In 13th International Congress on Systemic Lupus Erythematosus (LUPUS 2019), San Francisco, California, USA, April 5–8, 2019, Abstract Presentations. Lupus Foundation of America, 2019. http://dx.doi.org/10.1136/lupus-2019-lsm.82.

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