Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X-Reference-Cited by-同舟云学术

Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X

Published:2018-02-26 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Arpone Marta,Baker Emma K.,Bretherton Lesley,Bui Minh,Li Xin,Whitaker Simon,Dissanayake Cheryl,Cohen Jonathan,Hickerton Chriselle,Rogers Carolyn,Field Mike,Elliott Justine,Aliaga Solange M.,Ling Ling,Francis David,Hearps Stephen J. C.,Hunter Matthew F.,Amor David J.,Godler David E.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-21990-x.pdf

Reference39 articles.

1. Coffee, B. et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am. J. Hum. Genet. 85, 503–514 (2009).

2. Monaghan, K. G., Lyon, E. & Spector, E. B. ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics. Genet. Med. 15, 575–586 (2013).

3. Oberle, I. & Rousseau, F. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252, 1097 (1991).

4. Godler, D. E. et al. Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. Hum. Mol. Gen. 19, 1618–1632 (2010).

5. Godler, D. E. et al. FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles. J. Mol. Diagn. 13, 528–536 (2011).

Cited by 18 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. Spectrum of Syndromal Disorders Associated with Expansion of CGG Repeats of the FMR1 Gene Promoter: Pathogenetic Mechanisms and Clinical Manifestations;Neuroscience and Behavioral Physiology;2023-02-21

2. Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders;Research in Developmental Disabilities;2022-12

3. Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome;American Journal of Medical Genetics Part A;2022-11-08

4. THE SPECTRUM OF SYNDROMIC DISORDERS ASSOCIATED WITH EXPANSION OF CGG-REPEATS IN THE FMR1 PROMOTER: PATHOGENETIC MECHANISMS AND CLINICAL SYMPTOMS;ZH VYSSH NERV DEYAT+;2022

5. Paternal retraction of a fragile X allele to normal size, showing normal function over two generations;American Journal of Medical Genetics Part A;2021-09-21