A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia-Reference-Cited by-同舟云学术

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia

Published:2007-03-14 Issue:6 Volume:15 Page:638-645
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Morava Eva,Zeevaert Renate,Korsch Eckhard,Huijben Karin,Wopereis Suzan,Matthijs Gert,Keymolen Kathelijn,Lefeber Dirk J,De Meirleir Linda,Wevers Ron A

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201813.pdf

Reference18 articles.

1. Jaeken J, Vanderschueren-Lodeweycks M, Casaer P et al: Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF proteins: a new syndrome? Pediatr Res 1980; 14: 179.

2. Wu X, Steet R-A, Bohorov O et al: Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med 2004; 10: 518–523.

3. Ungar D, Oka T, Brittle E-E et al: Characterization of a mammalian Golgi-localized protein complex, COG, that is required for normal Golgi morphology and function. J Cell Biol 2002; 157: 405–415.

4. Loh E, Hong W : The binary interacting network of the conserved oligomeric Golgi tethering complex. J Biol Chem 2004; 279: 24640–24648.

5. Shestakova A, Zolov S, Lupashin V : COG complex-mediated recycling of Golgi glycosyltransferases is essential for normal protein glycosylation. Traffic 2006; 7: 191–204.

Cited by 90 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. Genome-Wide Genetic Analysis of Dropout in a Controlled Exercise Intervention in Sedentary Adults With Overweight or Obesity and Cardiometabolic Disease;Annals of Behavioral Medicine;2024-03-15

2. Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007–2021);Archives de Pédiatrie;2024-02

3. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review;International Journal of Molecular Sciences;2023-05-11

4. What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 children;Molecular Genetics and Metabolism;2022-04

5. COG6‐CDG : Novel variants and novel malformation;Birth Defects Research;2022-01-23