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.
Full textGao, 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.
Full textBestetti, 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.
Full textParenti, 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.
Full textKojić, 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.
Full textNeilsen, 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.
Full textKim, 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.
Full textYoungs, 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.
Full textLim, 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.
Full textSacharow, 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.
Full textKutkowska-Kaźmierczak, Anna, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki, Aleksandra Pietrzyk, Artur Barczyk, et al. "Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3." Genes 12, no. 8 (August 17, 2021): 1257. http://dx.doi.org/10.3390/genes12081257.
Full textOckeloen, Charlotte W., Marjolein H. Willemsen, Sonja de Munnik, Bregje WM van Bon, Nicole de Leeuw, Aad Verrips, Sarina G. Kant, et al. "Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations." European Journal of Human Genetics 23, no. 9 (November 26, 2014): 1176–85. http://dx.doi.org/10.1038/ejhg.2014.253.
Full textOckeloen, Charlotte W., Marjolein H. Willemsen, Sonja de Munnik, Bregje WM van Bon, Nicole de Leeuw, Aad Verrips, Sarina G. Kant, et al. "Erratum: Further delineation of the KBG syndrome caused by ANKRD11 aberrations." European Journal of Human Genetics 23, no. 9 (August 13, 2015): 1270. http://dx.doi.org/10.1038/ejhg.2015.130.
Full textGallagher, D., A. Bramall, A. Paquin, A. Voronova, S. Burns, P. Neilsen, G. Keller, D. Kaplan, and F. Miller. "ISDN2014_0042: Autism‐associated Ankrd11 is a novel epigenetic regulator of neurogenesis." International Journal of Developmental Neuroscience 47, Part_A (December 2015): 8. http://dx.doi.org/10.1016/j.ijdevneu.2015.04.032.
Full textLow, Karen J., Alison Hills, Maggie Williams, Celia Duff-Farrier, Shane McKee, and Sarah F. Smithson. "A splice-site variant in ANKRD11 associated with classical KBG syndrome." American Journal of Medical Genetics Part A 173, no. 10 (August 17, 2017): 2844–46. http://dx.doi.org/10.1002/ajmg.a.38397.
Full textAlfieri, Paolo, Cristina Caciolo, Giulia Lazzaro, Deny Menghini, Francesca Cumbo, Maria Lisa Dentici, Maria Cristina Digilio, et al. "Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study." Journal of Clinical Medicine 10, no. 7 (April 6, 2021): 1523. http://dx.doi.org/10.3390/jcm10071523.
Full textIsrie, Mala, Yvonne Hendriks, Nicole Gielissen, Erik A. Sistermans, Marjolein H. Willemsen, Hilde Peeters, Joris R. Vermeesch, Tjitske Kleefstra, and Hilde Van Esch. "Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms." European Journal of Human Genetics 20, no. 2 (June 8, 2011): 131–33. http://dx.doi.org/10.1038/ejhg.2011.105.
Full textWalz, Katherina, Devon Cohen, Paul M. Neilsen, Joseph Foster, Francesco Brancati, Korcan Demir, Richard Fisher, et al. "Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome." Human Genetics 134, no. 2 (November 21, 2014): 181–90. http://dx.doi.org/10.1007/s00439-014-1509-2.
Full textEgger, J., L. Van Dongen, C. Stumpel, E. Wingbermuehle, and T. Kleefstra. "Kbg Syndrome and the Establishment of its Neuropsychological Phenotype." European Psychiatry 41, S1 (April 2017): S157—S158. http://dx.doi.org/10.1016/j.eurpsy.2017.01.2026.
Full textNestorovic, Aleksandra, Jovana Jasnic-Savovic, Georgine Faulkner, Dragica Radojkovic, and Snezana Kojic. "Ankrd1-mediated signaling is supported by its interaction with zonula occludens-1." Archives of Biological Sciences 66, no. 3 (2014): 1233–42. http://dx.doi.org/10.2298/abs1403233n.
Full textDong, X. J., H. P. Guan, Q. D. Zhang, M. Yerle, and B. Liu. "Mapping of porcine ANKRD1, ANKRD2, ANKRD23, VGLL2 and VGLL4 using somatic cell and radiation hybrid panels." Animal Genetics 38, no. 4 (August 2007): 424–25. http://dx.doi.org/10.1111/j.1365-2052.2007.01613.x.
Full textHe, Yongmeng, Yongfu Huang, Shizhi Wang, Lupei Zhang, Huijiang Gao, Yongju Zhao, and Guangxin E. "Hereditary Basis of Coat Color and Excellent Feed Conversion Rate of Red Angus Cattle by Next-Generation Sequencing Data." Animals 12, no. 12 (June 9, 2022): 1509. http://dx.doi.org/10.3390/ani12121509.
Full textGong, Yiming, Liancheng Fan, Yinjie Zhu, Jiahua Pan, Jianjun Sha, Baijun Dong, Wei Xue, Jianqiang Lei, and Jianfei Wang. "Germline mutation in multiple primary malignancies associated with prostate cancer." Journal of Clinical Oncology 38, no. 15_suppl (May 20, 2020): e17505-e17505. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e17505.
Full textSamanta, Debopam, and Erin Willis. "Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene." Acta Neurologica Belgica 115, no. 4 (December 28, 2014): 779–82. http://dx.doi.org/10.1007/s13760-014-0413-9.
Full textGru, Alejandro Ariel, Caroline Snowden, Eli Williams, Carlos Barrionuevo, Jose Sanches, Maxime Battistella, Samuel Mo, et al. "Notable Patterns in the Genomic Landscape of Adult T-Cell Leukemia/Lymphoma Encountered in HTLV-1 Endemic Western World Regions." Blood 138, Supplement 1 (November 5, 2021): 810. http://dx.doi.org/10.1182/blood-2021-154275.
Full textLim, Ji-Hun, Eul-Ju Seo, Yoo-Mi Kim, Hyun-Ju Cho, Jin-Ok Lee, Chong Kun Cheon, and Han-Wook Yoo. "A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome." Annals of Laboratory Medicine 34, no. 5 (September 1, 2014): 390–94. http://dx.doi.org/10.3343/alm.2014.34.5.390.
Full textNoll, J. E., J. Jeffery, F. Al-Ejeh, R. Kumar, K. K. Khanna, D. F. Callen, and P. M. Neilsen. "Mutant p53 drives multinucleation and invasion through a process that is suppressed by ANKRD11." Oncogene 31, no. 23 (October 10, 2011): 2836–48. http://dx.doi.org/10.1038/onc.2011.456.
Full textLi, X., Y. S. Zhao, C. K. Chang, F. Xu, and D. Wu. "Gene Mutations of ANKRD11 Influenced Myeloid Differentiation and Histone Acetylation Modulation in Myelodysplastic Syndrome." Leukemia Research 55 (April 2017): S157. http://dx.doi.org/10.1016/s0145-2126(17)30387-9.
Full textGallagher, Denis, Anastassia Voronova, Mark A. Zander, Gonzalo I. Cancino, Alexa Bramall, Matthew P. Krause, Clemer Abad, et al. "Ankrd11 Is a Chromatin Regulator Involved in Autism that Is Essential for Neural Development." Developmental Cell 32, no. 1 (January 2015): 31–42. http://dx.doi.org/10.1016/j.devcel.2014.11.031.
Full textSirmaci, Asli, Michail Spiliopoulos, Francesco Brancati, Eric Powell, Duygu Duman, Alex Abrams, Guney Bademci, et al. "Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia." American Journal of Human Genetics 89, no. 2 (August 2011): 289–94. http://dx.doi.org/10.1016/j.ajhg.2011.06.007.
Full textSeo, Go Hun, Arum Oh, Minji Kang, Eun Na Kim, Ja-Hyun Jang, Dae Yeon Kim, Kyung Mo Kim, Han-Wook Yoo, and Beom Hee Lee. "An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome." Journal of Genetic Medicine 16, no. 1 (June 30, 2019): 39–42. http://dx.doi.org/10.5734/jgm.2019.16.1.39.
Full textMiyatake, Satoko, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, et al. "ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome." Journal of Human Genetics 62, no. 8 (March 2, 2017): 741–46. http://dx.doi.org/10.1038/jhg.2017.24.
Full textCucco, Francesco, Patrizia Sarogni, Sara Rossato, Mirella Alpa, Alessandra Patimo, Ana Latorre, Cinzia Magnani, et al. "Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome." American Journal of Medical Genetics Part A 182, no. 7 (May 31, 2020): 1690–96. http://dx.doi.org/10.1002/ajmg.a.61611.
Full textKa, Minhan, and Woo-Yang Kim. "ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway." Neurobiology of Disease 111 (March 2018): 138–52. http://dx.doi.org/10.1016/j.nbd.2017.12.008.
Full textDe Bernardi, Margherita Lucia, Ivan Ivanovski, Stefano Giuseppe Caraffi, Ilenia Maini, Maria Elisabeth Street, Allan Bayat, Marcella Zollino, et al. "Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11." American Journal of Medical Genetics Part A 176, no. 9 (August 8, 2018): 1991–95. http://dx.doi.org/10.1002/ajmg.a.40386.
Full textNovara, Francesca, Berardo Rinaldi, Sanjay M. Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, et al. "Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases." European Journal of Human Genetics 25, no. 6 (April 19, 2017): 694–701. http://dx.doi.org/10.1038/ejhg.2017.49.
Full textMarum, Justine E., Paul PS Wang, Doris Stangl, David T. Yeung, Martin C. Mueller, Christian T. Dietz, Ieuan Walker, et al. "Novel Fusion Genes at CML Diagnosis Reveal a Complex Pattern of Genomic Rearrangements and Sequence Inversions Associated with the Philadelphia Chromosome in Patients with Early Blast Crisis." Blood 128, no. 22 (December 2, 2016): 1219. http://dx.doi.org/10.1182/blood.v128.22.1219.1219.
Full textDemaria, Francesco, Paolo Alfieri, Maria Cristina Digilio, Maria Pontillo, Cristina Di Vincenzo, Federica Alice Maria Montanaro, Valentina Ciullo, Giuseppe Zampino, and Stefano Vicari. "Obsessive Compulsive “Paper Handling”: A Potential Distinctive Behavior in Children and Adolescents with KBG Syndrome." Journal of Clinical Medicine 11, no. 16 (August 11, 2022): 4687. http://dx.doi.org/10.3390/jcm11164687.
Full textParenti, I., C. Gervasini, J. Pozojevic, L. Graul-Neumann, J. Azzollini, D. Braunholz, E. Watrin, et al. "Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype." Clinical Genetics 89, no. 1 (February 25, 2015): 74–81. http://dx.doi.org/10.1111/cge.12564.
Full textKaname, Tadashi, and Kumiko Yanagi. "A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome." Journal of Human Genetics 62, no. 8 (June 1, 2017): 739–40. http://dx.doi.org/10.1038/jhg.2017.58.
Full textBarbaric, Ivana, Mark J. Perry, T. Neil Dear, Alexandra Rodrigues Da Costa, Daniela Salopek, Ana Marusic, Tertius Hough, et al. "An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda." Physiological Genomics 32, no. 3 (February 2008): 311–21. http://dx.doi.org/10.1152/physiolgenomics.00116.2007.
Full textBogomolovas, Julius, Kathrin Brohm, Jelena Čelutkienė, Giedrė Balčiūnaitė, Daiva Bironaitė, Virginija Bukelskienė, Dainius Daunoravičus, et al. "Induction of Ankrd1 in Dilated Cardiomyopathy Correlates with the Heart Failure Progression." BioMed Research International 2015 (2015): 1–9. http://dx.doi.org/10.1155/2015/273936.
Full textPalumbo, Orazio, Pietro Palumbo, Ester Di Muro, Luigia Cinque, Antonio Petracca, Massimo Carella, and Marco Castori. "A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features." Genes 11, no. 6 (June 26, 2020): 707. http://dx.doi.org/10.3390/genes11060707.
Full textVasmatzis, George, Sarah H. Johnson, Ryan A. Knudson, Rhett P. Ketterling, Esteban Braggio, Rafael Fonseca, David S. Viswanatha, et al. "Genome-wide analysis reveals recurrent structural abnormalities of TP63 and other p53-related genes in peripheral T-cell lymphomas." Blood 120, no. 11 (September 13, 2012): 2280–89. http://dx.doi.org/10.1182/blood-2012-03-419937.
Full textWillemsen, Marjolein H., Bridget A. Fernandez, Carlos A. Bacino, Erica Gerkes, Arjan PM de Brouwer, Rolph Pfundt, Birgit Sikkema-Raddatz, et al. "Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome." European Journal of Human Genetics 18, no. 4 (November 18, 2009): 429–35. http://dx.doi.org/10.1038/ejhg.2009.192.
Full textGawlińska, Kinga, Dawid Gawliński, Małgorzata Borczyk, Michał Korostyński, Edmund Przegaliński, and Małgorzata Filip. "A Maternal High-Fat Diet during Early Development Provokes Molecular Changes Related to Autism Spectrum Disorder in the Rat Offspring Brain." Nutrients 13, no. 9 (September 16, 2021): 3212. http://dx.doi.org/10.3390/nu13093212.
Full textHodgetts Morton, Victoria, Elizabeth Quinlan-Jones, Natasha Butts, Denise Williams, Sue Hamilton, Tamas Marton, and Katie Morris. "The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder." Clinical Case Reports 6, no. 1 (December 11, 2017): 189–91. http://dx.doi.org/10.1002/ccr3.1285.
Full textPimentel, Agustin, Andrea O'Hara, Rosangela de Lima, Suying Xu, Ngoc Toomey, Carlos Brites, Yao-Shan Fan, and Juan Carlos Ramos. "Distinct Patterns of Genomic Alterations in Adult T-Cell Leukemia-Lymphoma Endemic in the Western World." Blood 124, no. 21 (December 6, 2014): 1698. http://dx.doi.org/10.1182/blood.v124.21.1698.1698.
Full textBianchi, Pier Marco, Alessandra Bianchi, Maria Cristina Digilio, Filippo Maria Tucci, Emanuela Sitzia, and Giovanni Carlo De Vincentiis. "Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature." International Journal of Pediatric Otorhinolaryngology 103 (December 2017): 109–12. http://dx.doi.org/10.1016/j.ijporl.2017.10.017.
Full textShi, Wenhui, Feng Xu, Chunkang Chang, and Xiao Li. "DHX9 Mutations Are Identified As a Novel Recurrent Event in Patients with Myelodysplastic Syndromes and Closely Related to Bone Marrow Failure." Blood 126, no. 23 (December 3, 2015): 1651. http://dx.doi.org/10.1182/blood.v126.23.1651.1651.
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