Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

Autor: Michael A. Levy, David B. Beck, Kay Metcalfe, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Muhammad Ansar, Jennifer Kerkhof, Cyril Mignot, Marie-Christine Nougues, Boris Keren, Hannah W. Moore, Renske Oegema, Jacques C. Giltay, Marleen Simon, Richard H. van Jaarsveld, Jessica Bos, Mieke van Haelst, M. Mahdi Motazacker, Elles M. J. Boon, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Marielle Alders, Teresa Romeo Luperchio, Leandros Boukas, Keri Ramsey, Vinodh Narayanan, G. Bradley Schaefer, Roberto Bonasio, Kimberly F. Doheny, Roger E. Stevenson, Sidharth Banka, Bekim Sadikovic, Jill A. Fahrner

Publikováno v: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)

Abstract TET3 encodes an essential dioxygenase involved in epigenetic regulation through DNA demethylation. TET3 deficiency, or Beck-Fahrner syndrome (BEFAHRS; MIM: 618798), is a recently described neurodevelopmental disorder of the DNA demethylation

Externí odkaz: https://doaj.org/article/b671baf57f4d42619acfe5843fbbb345

Erratum: Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.

Autor: Lotte Kleinendorst, Ozair Abawi, Bibian van der Voorn, Mieke H T M Jongejan, Annelies E Brandsma, Jenny A Visser, Elisabeth F C van Rossum, Bert van der Zwaag, Mariëlle Alders, Elles M J Boon, Mieke M van Haelst, Erica L T van den Akker

Publikováno v: PLoS ONE, Vol 15, Iss 12, p e0244508 (2020)

[This corrects the article DOI: 10.1371/journal.pone.0232990.].

Externí odkaz: https://doaj.org/article/6357abef6fb44c8c86e957dceb415437

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

Autor: Trudie Cottrell, Jacques C. Giltay, Richard H. van Jaarsveld, Elles M. J. Boon, Roger E. Stevenson, Michael A. Levy, Kimberly F. Doheny, Bekim Sadikovic, G. Bradley Schaefer, Roberto Bonasio, Muhammad Ansar, Vinodh Narayanan, Mieke M. van Haelst, Jill A. Fahrner, Marleen Simon, David B. Beck, Claudia A. L. Ruivenkamp, Sivagamy Sithambaram, Teresa Romeo Luperchio, Leandros Boukas, Marie-Christine Nougues, Hannah W. Moore, Marielle Alders, Renske Oegema, M. Mahdi Motazacker, Kay Metcalfe, Cyril Mignot, Jennifer Kerkhof, Gijs W. E. Santen, Jessica Bos, Sofia Douzgou, Siddharth Banka, Keri Ramsey, Boris Keren

Publikováno v: npj Genomic Medicine, 6(1):92. Nature Publishing Group
NPJ Genomic Medicine
npj Genomic Medicine, 6(1). NATURE PORTFOLIO
Levy, M A, Beck, D B, Metcalfe, K, Douzgou, S, Sithambaram, S, Cottrell, T, Ansar, M, Kerkhof, J, Mignot, C, Nougues, M-C, Keren, B, Moore, H W, Oegema, R, Giltay, J C, Simon, M, van Jaarsveld, R H, Bos, J, van Haelst, M, Motazacker, M M, Boon, E M J, Santen, G W E, Ruivenkamp, C A L, Alders, M, Luperchio, T R, Boukas, L, Ramsey, K, Narayanan, V, Schaefer, G B, Bonasio, R, Doheny, K F, Stevenson, R E, Banka, S, Sadikovic, B & Fahrner, J A 2021, ' Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood ', NPJ GENOMIC MEDICINE, vol. 6, no. 1, 92 . https://doi.org/10.1038/s41525-021-00256-y
NPJ GENOMIC MEDICINE, 6(1):92. Nature Publishing Group
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)

TET3 encodes an essential dioxygenase involved in epigenetic regulation through DNA demethylation. TET3 deficiency, or Beck-Fahrner syndrome (BEFAHRS; MIM: 618798), is a recently described neurodevelopmental disorder of the DNA demethylation machiner

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e7a4f9d28f382a7f3fbe53f6e51e36e
https://pure.amc.nl/en/publications/deficiency-of-tet3-leads-to-a-genomewide-dna-hypermethylation-episignature-in-human-whole-blood(5bc0d878-ad8f-46d9-b824-73ea86edb6dd).html

Mrassf1a-pap, a novel methylation-based assay for the detection of cell-free fetal DNA in maternal plasma.

Autor: Jessica M E van den Oever, Sahila Balkassmi, Tim Segboer, E Joanne Verweij, Pieter A van der Velden, Dick Oepkes, Egbert Bakker, Elles M J Boon

Publikováno v: PLoS ONE, Vol 8, Iss 12, p e84051 (2013)

OBJECTIVES: RASSF1A has been described to be differentially methylated between fetal and maternal DNA and can therefore be used as a universal sex-independent marker to confirm the presence of fetal sequences in maternal plasma. However, this require

Externí odkaz: https://doaj.org/article/9de75a49f71f432a869bf99aa902789c

The role of obesity in the fatal outcome of Schaaf–Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation

Autor: Lotte Kleinendorst, Elles M. J. Boon, Graciela Pi Castán, Alfonso Caro-Llopis, Mieke M. van Haelst

Publikováno v: American journal of medical genetics. Part A, 176(11), 2456-2459. Wiley-Liss Inc.
American Journal of Medical Genetics, Part A, 176(11), 2456-2459. Wiley-Liss Inc.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Kleinendorst, L, Pi Castán, G, Caro-Llopis, A, Boon, E M J & van Haelst, M M 2018, ' The role of obesity in the fatal outcome of Schaaf–Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation ', American Journal of Medical Genetics, Part A, vol. 176, no. 11, pp. 2456-2459 . https://doi.org/10.1002/ajmg.a.40486

Schaaf-Yang syndrome (SYS) was recently identified as a genetic condition resembling Prader-Willi syndrome. It is caused by mutations on the paternal allele of the MAGEL2 gene, a gene that has been mapped in the Prader-Willi critical region. Here, we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3ea3b4764f99e992f49c0a32d4d5c5b
https://doi.org/10.1002/ajmg.a.40486