Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency-Reference-Cited by-同舟云学术

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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

Published:2020-02 Issue:2 Volume:106 Page:234-245
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Beck David B.,Petracovici Ana,He Chongsheng,Moore Hannah W.,Louie Raymond J.,Ansar Muhammad,Douzgou Sofia,Sithambaram Sivagamy,Cottrell Trudie,Santos-Cortez Regie Lyn P.,Prijoles Eloise J.,Bend Renee,Keren Boris,Mignot Cyril,Nougues Marie-Christine,Õunap Katrin,Reimand Tiia,Pajusalu Sander,Zahid Muhammad,Saqib Muhammad Arif Nadeem,Buratti Julien,Seaby Eleanor G.,McWalter Kirsty,Telegrafi Aida,Baldridge Dustin,Shinawi Marwan,Leal Suzanne M.,Schaefer G. Bradley,Stevenson Roger E.,Banka Siddharth,Bonasio Roberto,Fahrner Jill A.

Funder

NIH

The Hartwell Foundation

National Human Genome Research Institute

NHGRI

NHLBI

Estonian Research Council

NHBLI

National Eye Institute

Higher Education Commission of Pakistan

Health Innovation Challenge Fund

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference44 articles.

1. Mendelian disorders of the epigenetic machinery: Tipping the balance of chromatin states;Fahrner;Annu. Rev. Genomics Hum. Genet.,2014

2. Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms;Larizza;Clin. Genet.,2019

3. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability;Tatton-Brown;Nat. Genet.,2014

4. DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes;Ehrlich;Hum. Mol. Genet.,2001

5. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome;Mnatzakanian;Nat. Genet.,2004

Cited by 69 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Alterations in DNA 5-hydroxymethylation patterns in the hippocampus of an experimental model of chronic epilepsy;Neurobiology of Disease;2024-10

2. A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly;International Journal of Molecular Sciences;2024-09-06

3. The Role of DNMT Methyltransferases and TET Dioxygenases in the Maintenance of the DNA Methylation Level;Biomolecules;2024-09-04

4. PROSER1 Modulates DNA Demethylation through Dual Mechanisms to Prevent Syndromic Developmental Malformations;2024-08-02

5. TET enzyme driven epigenetic reprogramming in early embryos and its implication on long-term health;Frontiers in Cell and Developmental Biology;2024-08-01

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