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311 results

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Page 1
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. Teunissen MWA, et al. Hum Mol Genet. 2023 Jul 4;32(14):2373-2385. doi: 10.1093/hmg/ddad081. Hum Mol Genet. 2023. PMID: 37195288 Free PMC article.
METHODS: We collected clinical and molecular data of 12 individuals with heterozygous de novo LoF variants in ANK2. We generated a heterozygous LoF allele of ANK2 using CRISPR/Cas9 in human-induced pluripotent stem cells (hiPSCs). ...Using MEAs, we found that hiPSC- …
METHODS: We collected clinical and molecular data of 12 individuals with heterozygous de novo LoF variants in ANK2. We generated a he …
A Mutation in the ANK2 Gene Causing ASD and a Review of the Literature.
Zhao L, Qiao ZD, Jia YX, Fu JX, Li TX, Jia KR, Zhao H, Bao JP, Yang XF, Pan H, Yang GL. Zhao L, et al. Mol Genet Genomic Med. 2025 Mar;13(3):e70083. doi: 10.1002/mgg3.70083. Mol Genet Genomic Med. 2025. PMID: 40035441 Free PMC article. Review.
OBJECTIVE: To investigate the clinical and genetic characteristics of patients with ANK2(HGNC:493)-associated autism spectrum disorders (ASDs) and epilepsy (EP). METHODS: We identified a novel ANK2 variant in a patient with ASD and EP and summarized the clinical and …
OBJECTIVE: To investigate the clinical and genetic characteristics of patients with ANK2(HGNC:493)-associated autism spectrum disorde …
Roles of ANK2/ankyrin-B in neurodevelopmental disorders: Isoform functions and implications for autism spectrum disorder and epilepsy.
Yoon S, Penzes P. Yoon S, et al. Curr Opin Neurobiol. 2025 Feb;90:102938. doi: 10.1016/j.conb.2024.102938. Epub 2024 Dec 3. Curr Opin Neurobiol. 2025. PMID: 39631164 Free PMC article. Review.
The ANK2 gene, encoding ankyrin-B, is a high-confidence risk factor for neurodevelopmental disorders (NDDs). ...ANK2 variants and their pathophysiology could provide valuable insights into the molecular mechanisms underlying NDDs. ...
The ANK2 gene, encoding ankyrin-B, is a high-confidence risk factor for neurodevelopmental disorders (NDDs). ...ANK2 variants …
Reappraisal of ANK2 Variants in Cardiovascular Diseases: Uncovering Mechanisms and Future Directions.
Guo L, Wu D, Zhu W. Guo L, et al. Rev Cardiovasc Med. 2025 Jan 15;26(1):26013. doi: 10.31083/RCM26013. eCollection 2025 Jan. Rev Cardiovasc Med. 2025. PMID: 39867173 Free PMC article. Review.
ANK2 variants have been linked to an inherited condition known as "ankyrin-B syndrome", which manifests as a spectrum of cardiac arrhythmias and cardiomyopathy. Our current review examines the relationship between ANK2 variants and specific heart conditions, summari …
ANK2 variants have been linked to an inherited condition known as "ankyrin-B syndrome", which manifests as a spectrum of cardiac arrh …
Autism-associated ANK2 regulates embryonic neurodevelopment.
Kawano S, Baba M, Fukushima H, Miura D, Hashimoto H, Nakazawa T. Kawano S, et al. Biochem Biophys Res Commun. 2022 May 21;605:45-50. doi: 10.1016/j.bbrc.2022.03.058. Epub 2022 Mar 12. Biochem Biophys Res Commun. 2022. PMID: 35313230 Free article.
However, the role of ANK2 in early neural development remains unclear. In this study, we analyzed the role of ANK2 in the cerebral cortex of developing mouse using in utero electroporation. We provide evidence suggesting that ANK2 regulates neural stem cell d …
However, the role of ANK2 in early neural development remains unclear. In this study, we analyzed the role of ANK2 in the cere …
ANK2 as a novel predictive biomarker for immune checkpoint inhibitors and its correlation with antitumor immunity in lung adenocarcinoma.
Zhang W, Shang X, Liu N, Ma X, Yang R, Xia H, Zhang Y, Zheng Q, Wang X, Liu Y. Zhang W, et al. BMC Pulm Med. 2022 Dec 20;22(1):483. doi: 10.1186/s12890-022-02279-2. BMC Pulm Med. 2022. PMID: 36539782 Free PMC article.

Regarding ANK2 expression, it was observed that ANK2 expression was decreased in LUAD (P < 0.05) and a higher level of ANK2 expression was associated with longer overall survival (HR 0.69, 95% CI 0.52-0.92; P = 0.012) in TCGA LUAD cohort. Moreover, ANK2

…

Regarding ANK2 expression, it was observed that ANK2 expression was decreased in LUAD (P < 0.05) and a higher level of A

…
Discovering the ANK2-related autism phenotype.
Guissart C, Polge A, Durand N, Miret A, Lumbroso S, Francannet C, Mouzat K. Guissart C, et al. Clin Genet. 2023 Sep;104(3):384-386. doi: 10.1111/cge.14347. Epub 2023 Apr 23. Clin Genet. 2023. PMID: 37088467
Interestingly, disease-causing mutations in the ANK2 gene have been identified in patients with autism since 2012, though with no full clinical description. ...Our report is a first step to better understanding ANK2-related autism and will contribute to facilitating …
Interestingly, disease-causing mutations in the ANK2 gene have been identified in patients with autism since 2012, though with no ful …
ANK2 Hypermethylation in Canine Mammary Tumors and Human Breast Cancer.
Schabort JJ, Nam AR, Lee KH, Kim SW, Lee JE, Cho JY. Schabort JJ, et al. Int J Mol Sci. 2020 Nov 18;21(22):8697. doi: 10.3390/ijms21228697. Int J Mol Sci. 2020. PMID: 33218035 Free PMC article.
Both ANK2 and EPAS1 were hypermethylated in CMT and highlighted as potential tissue biomarkers in CMT. ANK2 additionally showed significant hypermethylation in the plasma cfDNA of CMT, indicating that it could be a potential liquid biopsy biomarker as well. ...
Both ANK2 and EPAS1 were hypermethylated in CMT and highlighted as potential tissue biomarkers in CMT. ANK2 additionally showe …
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR, Syrris P, Guttmann OP, O'Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM. Lopes LR, et al. Heart. 2015 Feb;101(4):294-301. doi: 10.1136/heartjnl-2014-306387. Epub 2014 Oct 28. Heart. 2015. PMID: 25351510 Free PMC article.
Similar associations were observed for individual SP genes. Patients with ANK2 variants had greater maximum wall thickness (p=0.0005). Associations at a lower level of significance were demonstrated with variation in other non-SP genes. ...
Similar associations were observed for individual SP genes. Patients with ANK2 variants had greater maximum wall thickness (p=0.0005) …
311 results