Variant of CHD1 gene resulting in a Korean case of Pilarowski-Bjornsson syndrome |
Yoon Sunwoo
(Department of Pediatrics, Seoul National University Children's Hospital)
Soo Hyun Seo (Department of Laboratory Medicine, Seoul National University Bundang Hospital) Ho-Joong Kim (Department of Orthopedic Surgery, Seoul National University College of Medicine, Seoul National University Bundang Hospital) Moon Seok Park (Department of Orthopedic Surgery, Seoul National University College of Medicine, Seoul National University Bundang Hospital) Anna Cho (Department of Pediatrics, Seoul National University Bundang Hospital) |
1 | Fahrner JA, Bjornsson HT. Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects. Hum Mol Genet 2019;28:R254-64. Erratum in: Hum Mol Genet 2020;29:876. |
2 | Fahrner JA, Bjornsson HT. Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states. Annu Rev Genomics Hum Genet 2014;15:269-93. DOI |
3 | Micucci JA, Sperry ED, Martin DM. Chromodomain helicase DNA-binding proteins in stem cells and human developmental diseases. Stem Cells Dev 2015;24:917-26. DOI |
4 | Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, et al. Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. J Med Genet 2018;55:561-6. DOI |
5 | Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res 2016;44:D862-8. DOI |
6 | Ortuno-Sahagun D, Schliebs R, Pallas M. Editorial: epigenetic mechanisms regulating neural plasticity. Front Cell Neurosci 2019;13:118. |
7 | Alendar A, Berns A. Sentinels of chromatin: chromodomain helicase DNA-binding proteins in development and disease. Genes Dev 2021;35:1403-30. DOI |
8 | Mossink B, Negwer M, Schubert D, Nadif Kasri N. The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective. Cell Mol Life Sci 2021;78:2517-63. DOI |
9 | Gaspar-Maia A, Alajem A, Polesso F, Sridharan R, Mason MJ, Heidersbach A, et al. Chd1 regulates open chromatin and pluripotency of embryonic stem cells. Nature 2009;460:863-8. DOI |
10 | Fagerberg L, Hallstrom BM, Oksvold P, Kampf C, Djureinovic D, Odeberg J, et al. Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. Mol Cell Proteomics 2014;13:397-406. DOI |
11 | Wyatt BH, Raymond TO, Lansdon LA, Darbro BW, Murray JC, Manak JR, et al. Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders. Genesis 2021;59:e23394. |
12 | De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 2014;515:209-15. DOI |
13 | Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, et al. VarSome: the human genomic variant search engine. Bioinformatics 2019;35:1978-80. DOI |
14 | Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature 2014;515:216-21. DOI |
15 | Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012;485:242-5. DOI |
16 | Alvarado DM, Buchan JG, Frick SL, Herzenberg JE, Dobbs MB, Gurnett CA. Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development. Eur J Hum Genet 2013;21:373-80. DOI |
17 | Baumgart SJ, Najafova Z, Hossan T, Xie W, Nagarajan S, Kari V, et al. CHD1 regulates cell fate determination by activation of differentiation-induced genes. Nucleic Acids Res 2017;45:7722-35. DOI |
18 | Rizzo WB, Jenkens SM, Boucher P. Recognition and diagnosis of neuro-ichthyotic syndromes. Semin Neurol 2012;32:75-84. DOI |
![]() |