Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15

[1]  T. Strom,et al.  Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment , 2019, European Journal of Human Genetics.

[2]  Katherine L Hill-Harfe,et al.  Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus , 2019, Genetics in Medicine.

[3]  J. Resnick,et al.  A mouse model of Angelman syndrome imprinting defects , 2018, Human molecular genetics.

[4]  H. Soejima,et al.  Growing oocyte-specific transcription-dependent de novo DNA methylation at the imprinted Zrsr1-DMR , 2018, Epigenetics & chromatin.

[5]  Z. Tümer,et al.  Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains , 2018, Epigenetics.

[6]  Joomyeong Kim,et al.  Transcription-driven DNA methylation setting on the mouse Peg3 locus , 2017, Epigenetics.

[7]  K. Wilson,et al.  Blocked transcription through KvDMR1 results in absence of methylation and gene silencing resembling Beckwith-Wiedemann syndrome , 2017, Development.

[8]  Charles A. Williams,et al.  Angelman syndrome — insights into a rare neurogenetic disorder , 2016, Nature Reviews Neurology.

[9]  M. Surani,et al.  Specification and epigenetic programming of the human germ line , 2016, Nature Reviews Genetics.

[10]  R. Siebert,et al.  A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome , 2016, European Journal of Human Genetics.

[11]  Thomas P. Yang,et al.  Angelman syndrome imprinting center encodes a transcriptional promoter , 2014, Proceedings of the National Academy of Sciences.

[12]  K. Hochedlinger,et al.  The sox family of transcription factors: versatile regulators of stem and progenitor cell fate. , 2013, Cell stem cell.

[13]  Stormy J. Chamberlain,et al.  Transcription Is Required to Establish Maternal Imprinting at the Prader-Willi Syndrome and Angelman Syndrome Locus , 2011, PLoS genetics.

[14]  A. Razin,et al.  Protein-binding elements establish in the oocyte the primary imprint of the Prader-Willi/Angelman syndromes domain , 2009, Proceedings of the National Academy of Sciences.

[15]  S. Böhringer,et al.  Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15 , 2006, European Journal of Human Genetics.

[16]  S. Apostolidou,et al.  An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype. , 2003, Human molecular genetics.

[17]  O. el-Maarri,et al.  Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. , 2003, American journal of human genetics.

[18]  B. Horsthemke,et al.  A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp , 1999, Human Genetics.

[19]  Bernhard Horsthemke,et al.  Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15 , 1995, Nature Genetics.

[20]  G. Kelsey,et al.  Transcription is required for establishment of germline methylation marks at imprinted genes. , 2009, Genes & development.