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The chromatin regulator Ankrd11 controls cardiac neural crest cell-mediated outflow tract remodeling and heart function.
Kibalnyk Y, Afanasiev E, Noble RMN, Watson AES, Poverennaya I, Dittmann NL, Alexiou M, Goodkey K, Greenwell AA, Ussher JR, Adameyko I, Massey J, Graf D, Bourque SL, Stratton JA, Voronova A. Kibalnyk Y, et al. Nat Commun. 2024 Jul 1;15(1):4632. doi: 10.1038/s41467-024-48955-1. Nat Commun. 2024. PMID: 38951500 Free PMC article.
ANKRD11 (Ankyrin Repeat Domain 11) is a chromatin regulator and a causative gene for KBG syndrome, a rare developmental disorder characterized by multiple organ abnormalities, including cardiac defects. ...In this work, we identify Ankrd11 as a regulator of neural c …
ANKRD11 (Ankyrin Repeat Domain 11) is a chromatin regulator and a causative gene for KBG syndrome, a rare developmental disorder char …
Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.
Gallagher D, Voronova A, Zander MA, Cancino GI, Bramall A, Krause MP, Abad C, Tekin M, Neilsen PM, Callen DF, Scherer SW, Keller GM, Kaplan DR, Walz K, Miller FD. Gallagher D, et al. Dev Cell. 2015 Jan 12;32(1):31-42. doi: 10.1016/j.devcel.2014.11.031. Epub 2014 Dec 31. Dev Cell. 2015. PMID: 25556659 Free article.
Ankrd11 is a potential chromatin regulator implicated in neural development and autism spectrum disorder (ASD) with no known function in the brain. ...Similar cellular phenotypes and aberrant ASD-like behaviors were observed in Yoda mice carrying a point mutation in the …
Ankrd11 is a potential chromatin regulator implicated in neural development and autism spectrum disorder (ASD) with no known function …
The Chromatin Regulator Ankrd11 Controls Palate and Cranial Bone Development.
Roth DM, Baddam P, Lin H, Vidal-García M, Aponte JD, De Souza ST, Godziuk D, Watson AES, Footz T, Schachter NF, Egan SE, Hallgrímsson B, Graf D, Voronova A. Roth DM, et al. Front Cell Dev Biol. 2021 Apr 29;9:645386. doi: 10.3389/fcell.2021.645386. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33996804 Free PMC article.
ANKRD11 gene variants, or microdeletions of the 16q24.3 chromosomal region encompassing the ANKRD11 gene, cause KBG syndrome, a rare autosomal dominant congenital disorder with variable neurodevelopmental and craniofacial involvement. ...Palatal shelves remain hypop …
ANKRD11 gene variants, or microdeletions of the 16q24.3 chromosomal region encompassing the ANKRD11 gene, cause KBG syndrome, …
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Goodkey K, Wischmeijer A, Perrin L, Watson AES, Qureshi L, Cordelli DM, Toni F, Gnazzo M, Benedicenti F, Elmaleh-Bergès M, Low KJ, Voronova A. Goodkey K, et al. BMC Med. 2024 Apr 15;22(1):158. doi: 10.1186/s12916-024-03363-6. BMC Med. 2024. PMID: 38616269 Free PMC article.
ANKRD11 (ankyrin repeat domain 11) is a chromatin regulator and the only gene associated with KBG syndrome, a rare neurodevelopmental disorder. ...Finally, we describe two clinically and molecularly confirmed KBG syndrome patients with anosmia and olfactory bulb and groove …
ANKRD11 (ankyrin repeat domain 11) is a chromatin regulator and the only gene associated with KBG syndrome, a rare neurodevelopmental …
Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome.
Kierzkowska O, Sarino K, Carter D, Guo L, Marchi E, Voronova A, Lyon GJ. Kierzkowska O, et al. Am J Med Genet A. 2023 Sep;191(9):2364-2375. doi: 10.1002/ajmg.a.63311. Epub 2023 May 25. Am J Med Genet A. 2023. PMID: 37226940
Ankyrin Repeat Domain 11 (ANKRD11) gene mutations are associated with KBG syndrome, a developmental disability that affects multiple organ systems. The function of ANKRD11 in human growth and development is not clear, but gene knockout or mutation are lethal in mice …
Ankyrin Repeat Domain 11 (ANKRD11) gene mutations are associated with KBG syndrome, a developmental disability that affects multiple …
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.
Guo L, Park J, Yi E, Marchi E, Hsieh TC, Kibalnyk Y, Moreno-Sáez Y, Biskup S, Puk O, Beger C, Li Q, Wang K, Voronova A, Krawitz PM, Lyon GJ. Guo L, et al. Eur J Hum Genet. 2022 Nov;30(11):1244-1254. doi: 10.1038/s41431-022-01171-1. Epub 2022 Aug 15. Eur J Hum Genet. 2022. PMID: 35970914 Free PMC article.
Genetic variants in Ankyrin Repeat Domain 11 (ANKRD11) and deletions in 16q24.3 are known to cause KBG syndrome, a rare syndrome associated with craniofacial, intellectual, and neurobehavioral anomalies. ...
Genetic variants in Ankyrin Repeat Domain 11 (ANKRD11) and deletions in 16q24.3 are known to cause KBG syndrome, a rare syndrome asso …