Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12

Oussalah, A., Siblini, Y., Hergalant, S., Chéry, C., Rouyer, P., Cavicchi, C., Guerrini, R., Morange, P.-E., Trégouët, D., Pupavac, M., Watkins, D., Pastinen, T., Chung, W. K., Ficicioglu, C., Feillet, F., Froese, D. S., Baumgartner, M. R., Benoist, J.-F., Majewski, J., … Guéant, J.-L. (2022). Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Clinical Epigenetics, 14(1). https://doi.org/10.1186/s13148-022-01271-1
Authors:
Abderrahim Oussalah
Youssef Siblini
Sebastien Hergalant
Celine Chery
Pierre Rouyer
Francois Feillet
Jean-Louis Gueant
Catia Cavicchi
Renzo Guerrini
Amelia Morrone
Pierre-Emmanuel Morange
David Tregouet
Mihaela Pupavac
David Watkins
Tomi Pastinen
Jacek Majewski
David S. Rosenblatt
Wendy K. Chung
Can Ficicioglu
D. Sean Froese
Matthias R. Baumgartner
Jean-Francois Benoist
Affiliated Authors:
Wendy K. Chung
Columbia Affiliation:
Subjects:
Homocystinuria (MeSH)
Vitamin B 12 (MeSH)
Role of Homocysteine in Health and Disease (OpenAlex Topic)
RNA Methylation and Modification in Gene Expression (OpenAlex Topic)
Porphyrin Metabolism and Disorders (OpenAlex Topic)
Author Keywords:
epi-cblc
mmachc
methylmalonic aciduria and homocystinuria, cblc type
promoter hypermethylation
secondary epimutation
tesk2
methylmalonic aciduria and homocystinuria
cblc type
elink
Publication Type:
Article
Unique ID:
10.1186/s13148-022-01271-1
PMID:
35440018
DOI:
10.1186/s13148-022-01271-1
Journal:
Clinical Epigenetics
Publication Date:
Data Source:
Web of Science
Source Link:
View Web of Science Record
View OpenAlex Record
View PubMed Record

Record Created: