A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients-Reference-Cited by-同舟云学术

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Published:2018-01-04 Issue:1 Volume:9 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Guéant Jean-Louis,Chéry Céline,Oussalah Abderrahim^ORCID,Nadaf Javad,Coelho David^ORCID,Josse Thomas,Flayac Justine,Robert Aurélie,Koscinski Isabelle,Gastin Isabelle,Filhine-Tresarrieu Pierre,Pupavac Mihaela,Brebner Alison,Watkins David,Pastinen Tomi,Montpetit Alexandre,Hariri Fadi,Tregouët David,Raby Benjamin A,Chung Wendy K.,Morange Pierre-Emmanuel,Froese D. Sean,Baumgartner Matthias R.,Benoist Jean-François,Ficicioglu Can,Marchand Virginie,Motorin Yuri,Bonnemains Chrystèle,Feillet François,Majewski Jacek^ORCID,Rosenblatt David S.

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/s41467-017-02306-5.pdf

Reference39 articles.

1. Oey, H. & Whitelaw, E. On the meaning of the word ‘epimutation’. Trends Genet. 30, 519–520 (2014).

2. Horsthemke, B. Epimutations in human disease. Curr. Top. Microbiol. Immunol. 310, 45–59 (2006).

3. Martin, D. I., Cropley, J. E. & Suter, C. M. Epigenetics in disease: leader or follower? Epigenetics 6, 843–848 (2011).

4. Heard, E. & Martienssen, R. A. Transgenerational epigenetic inheritance: myths and mechanisms. Cell 157, 95–109 (2014).

5. Hitchins, M. P. et al Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5’UTR. Cancer Cell 20, 200–213 (2011).

Cited by 73 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. Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan;Scandinavian Journal of Clinical and Laboratory Investigation;2024-09-03

2. Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect;Journal of Inherited Metabolic Disease;2024-08-17

3. Vitamin B12 Metabolism: A Network of Multi-Protein Mediated Processes;International Journal of Molecular Sciences;2024-07-23

4. The role of epigenetics in rare diseases;Medizinische Genetik;2024-06-05

5. The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients;Molecular Genetics and Metabolism;2024-05