Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome-Reference-Cited by-同舟云学术

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

Published:2015-02 Issue:2 Volume:35 Page:168-181
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Bauer Michael,Kölsch Uwe,Krüger Renate,Unterwalder Nadine,Hameister Karin,Kaiser Fabian Marc,Vignoli Aglaia,Rossi Rainer,Botella Maria Pilar,Budisteanu Magdalena,Rosello Monica,Orellana Carmen,Tejada Maria Isabel,Papuc Sorina Mihaela,Patat Oliver,Julia Sophie,Touraine Renaud,Gomes Thusari,Wenner Kirsten,Xu Xiu,Afenjar Alexandra,Toutain Annick,Philip Nicole,Jezela-Stanek Aleksandra,Gortner Ludwig,Martinez Francisco,Echenne Bernard,Wahn Volker,Meisel Christian,Wieczorek Dagmar,El-Chehadeh Salima,Van Esch Hilde,von Bernuth Horst

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/content/pdf/10.1007/s10875-015-0129-5.pdf

Reference77 articles.

1. Lubs H, Abidi F, Bier JA, Abuelo D, Ouzts L, Voeller K, et al. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. Am J Med Genet. 1999;85(3):243–8.

2. Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, et al. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J Med Genet. 2005;42(2):e12.

3. Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet. 2005;77(3):442–53.

4. Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, et al. Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication. Hum Mutat. 2004;24(2):172–7.

5. Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, et al. Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet. 2006;43(4):362–70.

Cited by 38 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. An overview of early genetic predictors of IgA deficiency;Expert Review of Molecular Diagnostics;2024-08

2. An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome;Disease Models & Mechanisms;2024-07-01

3. Nodding syndrome: A role for environmental biotoxins that dysregulate MECP2 expression?;Journal of the Neurological Sciences;2024-07

4. Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens;Frontiers in Pediatrics;2024-06-12

5. CRL4DCAF13 E3 ubiquitin ligase targets MeCP2 for degradation to prevent DNA hypermethylation and ensure normal transcription in growing oocytes;Cellular and Molecular Life Sciences;2024-04-05