| Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants. | Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants.
Martin-Lagos J, Bernal-Robledano A, Perez-Carpena P, Lamolda M, Escalera-Balsera A, Frejo L, Lopez-Escamez JA., Free PMC Article | 08/23/2024 |
| ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks. | ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Teunissen MWA, Lewerissa E, van Hugte EJH, Wang S, Ockeloen CW, Koolen DA, Pfundt R, Marcelis CLM, Brilstra E, Howe JL, Scherer SW, Le Guillou X, Bilan F, Primiano M, Roohi J, Piton A, de Saint Martin A, Baer S, Seiffert S, Platzer K, Jamra RA, Syrbe S, Doering JH, Lakhani S, Nangia S, Gilissen C, Vermeulen RJ, Rouhl RPW, Brunner HG, Willemsen MH, Nadif Kasri N., Free PMC Article | 07/12/2023 |
| Human ankyrins and their contribution to disease biology: An update. | Human ankyrins and their contribution to disease biology: An update.
Sharma N, Bham K, Senapati S. | 10/2/2021 |
| lncRNA ZNF667-AS1 (NR_036521.1) inhibits the progression of colorectal cancer via regulating ANK2/JAK2 expression. | lncRNA ZNF667-AS1 (NR_036521.1) inhibits the progression of colorectal cancer via regulating ANK2/JAK2 expression.
Zhuang L, Ding W, Ding W, Zhang Q, Xu X, Xi D. | 09/18/2021 |
| Established Loss-of-Function Variants in ANK2-Encoded Ankyrin-B Rarely Cause a Concerning Cardiac Phenotype in Humans. | Established Loss-of-Function Variants in ANK2-Encoded Ankyrin-B Rarely Cause a Concerning Cardiac Phenotype in Humans.
Giudicessi JR, Ackerman MJ. | 06/5/2021 |
| Mechanisms and Alterations of Cardiac Ion Channels Leading to Disease: Role of Ankyrin-B in Cardiac Function. | Mechanisms and Alterations of Cardiac Ion Channels Leading to Disease: Role of Ankyrin-B in Cardiac Function.
Sucharski HC, Dudley EK, Keith CBR, El Refaey M, Koenig SN, Mohler PJ., Free PMC Article | 04/3/2021 |
| Giant ankyrin-B suppresses stochastic collateral axon branching through direct interaction with microtubules. | Giant ankyrin-B suppresses stochastic collateral axon branching through direct interaction with microtubules.
Chen K, Yang R, Li Y, Zhou JC, Zhang M., Free PMC Article | 03/27/2021 |
| ANK2 Hypermethylation in Canine Mammary Tumors and Human Breast Cancer. | ANK2 Hypermethylation in Canine Mammary Tumors and Human Breast Cancer.
Schabort JJ, Nam AR, Lee KH, Kim SW, Lee JE, Cho JY., Free PMC Article | 03/6/2021 |
| Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study. | Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study.
Jeong S, Park YJ, Yun W, Lee ST, Choi JR, Suh C, Jo JC, Cha HJ, Jeong JY, Chang H, Cha YJ, Kim H, Park MJ, Song W, Cho EH, Jeong EG, Lee J, Park Y, Lee YS, Kim DJ, Lee HS., Free PMC Article | 02/20/2021 |
| These novel findings have important implications for understanding the role of AnkB and Cav2.1 in the regulation of neuronal function in health and disease. | Ankyrin B and Ankyrin B variants differentially modulate intracellular and surface Cav2.1 levels.
Choi CSW, Souza IA, Sanchez-Arias JC, Zamponi GW, Arbour LT, Swayne LA., Free PMC Article | 06/6/2020 |
| findings introduce what we believe to be a new pathway for Arrhythmogenic cardiomyopathy, a role of ankyrin-B in cardiac structure and signaling, a molecular link between ankyrin-B and beta-catenin, and evidence for targeted activation of the WNT/beta-catenin pathway as a potential treatment for this disease. | Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy.
Roberts JD, Murphy NP, Hamilton RM, Lubbers ER, James CA, Kline CF, Gollob MH, Krahn AD, Sturm AC, Musa H, El-Refaey M, Koenig S, Aneq MÅ, Hoorntje ET, Graw SL, Davies RW, Rafiq MA, Koopmann TT, Aafaqi S, Fatah M, Chiasson DA, Taylor MR, Simmons SL, Han M, van Opbergen CJ, Wold LE, Sinagra G, Mittal K, Tichnell C, Murray B, Codima A, Nazer B, Nguyen DT, Marcus FI, Sobriera N, Lodder EM, van den Berg MP, Spears DA, Robinson JF, Ursell PC, Green AK, Skanes AC, Tang AS, Gardner MJ, Hegele RA, van Veen TA, Wilde AA, Healey JS, Janssen PM, Mestroni L, van Tintelen JP, Calkins H, Judge DP, Hund TJ, Scheinman MM, Mohler PJ., Free PMC Article | 05/30/2020 |
| ANK2 functionally interacts with KCNH2 leading to a stronger current suppression and marked aggravation of long QT syndrome in the patient carrying variants in both proteins. | ANK2 functionally interacts with KCNH2 aggravating long QT syndrome in a double mutation carrier.
Gessner G, Runge S, Koenen M, Heinemann SH, Koenen M, Haas J, Meder B, Thomas D, Katus HA, Schweizer PA. | 04/11/2020 |
| Gain of axon branching due to giant ankB deficiency/mutation is a candidate cellular mechanism to explain aberrant structural connectivity and penetrant behavioral consequences in mice as well as humans bearing autism spectrum disorder-related ANK2 mutations. | ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity.
Yang R, Walder-Christensen KK, Kim N, Wu D, Lorenzo DN, Badea A, Jiang YH, Yin HH, Wetsel WC, Bennett V., Free PMC Article | 04/4/2020 |
| Cell-autonomous adiposity results from increased cell surface GLUT4 due to ankyrin-B deficiency in humans and mice. | Cell-autonomous adiposity through increased cell surface GLUT4 due to ankyrin-B deficiency.
Lorenzo DN, Bennett V., Free PMC Article | 06/30/2018 |
| The authors discovered that the entire 24 ankyrin repeats are inhibited by combinatorial and quasi-independent bindings of multiple disordered segments located in the ankyrin-B/G linkers and tails, suggesting a mechanistic basis for differential regulations of membrane target bindings by ankyrins. | Autoinhibition of ankyrin-B/G membrane target bindings by intrinsically disordered segments from the tail regions.
Chen K, Li J, Wang C, Wei Z, Zhang M., Free PMC Article | 05/19/2018 |
| we support classification of Ankyrin-B p.L1622I as a "mild" loss-of-function variant that may confer arrhythmia susceptibility in the context of secondary risk factors including environment, medication, and/or additional genetic variation. | Common human ANK2 variant confers in vivo arrhythmia phenotypes.
Musa H, Murphy NP, Curran J, Higgins JD, Webb TR, Makara MA, Wright P, Lancione PJ, Lubbers ER, Healy JA, Smith SA, Bennett V, Hund TJ, Kline CF, Mohler PJ. | 01/20/2018 |
| Clinical manifestations of ANK2 variants may include QT prolongation and torsades de pointes, often precipitated by strenuous exercise or stress. | Postmortem genetic analysis of sudden unexplained death syndrome under 50 years of age: A next-generation sequencing study.
Hata Y, Kinoshita K, Mizumaki K, Yamaguchi Y, Hirono K, Ichida F, Takasaki A, Mori H, Nishida N. | 01/20/2018 |
| Disruption of Ankyrin B and Caveolin-1 Interaction Sites Alters Na(+),K(+)-ATPase Membrane Diffusion | Disruption of Ankyrin B and Caveolin-1 Interaction Sites Alters Na(+),K(+)-ATPase Membrane Diffusion.
Junghans C, Vukojević V, Tavraz NN, Maksimov EG, Zuschratter W, Schmitt FJ, Friedrich T., Free PMC Article | 01/6/2018 |
| Report disease-causing ANK2 variant localized to the membrane-binding domain resulting in reduced ankyrin-B expression and abnormal localization in a First Nations population with a high rate of long QT syndrome. | Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome.
Swayne LA, Murphy NP, Asuri S, Chen L, Xu X, McIntosh S, Wang C, Lancione PJ, Roberts JD, Kerr C, Sanatani S, Sherwin E, Kline CF, Zhang M, Mohler PJ, Arbour LT., Free PMC Article | 11/4/2017 |
| VariousANK2mutations are associated with a wide range of phenotypes, including aLQTS, especially with ventricular fibrillation, representing "ankyrin-B" syndrome. | Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes.
Ichikawa M, Aiba T, Ohno S, Shigemizu D, Ozawa J, Sonoda K, Fukuyama M, Itoh H, Miyamoto Y, Tsunoda T, Makiyama T, Tanaka T, Shimizu W, Horie M. | 02/25/2017 |
| Rare Variants in ANK2 Associated With Various Inherited Arrhythmia Syndromes. | Rare Variants in ANK2 Associated With Various Inherited Arrhythmia Syndromes.
Watanabe H, Minamino T. | 02/25/2017 |
| The identification and characterization of two functionally distinct ankyrin-B isoforms in heart provide compelling evidence that alternative splicing of the ANK2 gene regulates the fidelity of ankyrin-B interactions with proteins | Identification and characterization of two ankyrin-B isoforms in mammalian heart.
Wu HC, Yamankurt G, Luo J, Subramaniam J, Hashmi SS, Hu H, Cunha SR., Free PMC Article | 08/20/2016 |
| the structures of ANK repeats in complex with an inhibitory segment from the C-terminal regulatory domain and with a sodium channel Nav1.2 peptide, are reported. | Structural basis of diverse membrane target recognitions by ankyrins.
Wang C, Wei Z, Chen K, Ye F, Yu C, Bennett V, Zhang M., Free PMC Article | 07/25/2015 |
| Gankyrin plays an essential role in estrogen-driven and GPR30-mediated endometrial carcinoma cell proliferation via the PTEN/PI3K/AKT signaling pathway. | Gankyrin plays an essential role in estrogen-driven and GPR30-mediated endometrial carcinoma cell proliferation via the PTEN/PI3K/AKT signaling pathway.
Zhang J, Yang Y, Zhang Z, He Y, Liu Z, Yu Y, Wu S, Cai B, Feng Y. | 11/16/2013 |
| ankyrin-B linker suppresses activity of the ANK repeat domain through an intramolecular interaction, likely with a groove on the surface of the ANK repeat solenoid, thereby regulating the affinities between ankyrin-B and its binding partners | A single divergent exon inhibits ankyrin-B association with the plasma membrane.
He M, Tseng WC, Bennett V., Free PMC Article | 08/10/2013 |