PubMed for id: 57511

Year	Number of Results
1993	1
1996	1
1999	1
2001	1
2002	3
2004	1
2005	3
2007	2
2008	1
2009	1
2010	2
2011	4
2012	3
2013	4
2014	5
2015	5
2016	3
2017	3
2018	1
2019	3
2020	3
2021	6
2022	6
2023	3
2024	0

1

Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.

Lugli L, Bariola MC, Ferri L, Lucaccioni L, Bertucci E, Cattini U, Torcetta F, Morrone A, Iughetti L, Berardi A. Lugli L, et al. Am J Med Genet A. 2021 Apr;185(4):1187-1194. doi: 10.1002/ajmg.a.62061. Epub 2021 Jan 4. Am J Med Genet A. 2021. PMID: 33394555

2

COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

Mandel H, Cohen Kfir N, Fedida A, Shuster Biton E, Odeh M, Kalfon L, Ben-Harouch S, Fleischer Sheffer V, Hoffman Y, Goldberg Y, Dinwiddie A, Dumin E, Eran A, Apel-Sarid L, Tiosano D, Falik-Zaccai TC. Mandel H, et al. Clin Genet. 2020 Oct;98(4):402-407. doi: 10.1111/cge.13816. Epub 2020 Aug 4. Clin Genet. 2020. PMID: 32683677

3

Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).

Li G, Xu Y, Hu X, Li N, Yao R, Yu T, Wang X, Guo W, Wang J. Li G, et al. Eur J Med Genet. 2019 Jan;62(1):44-46. doi: 10.1016/j.ejmg.2018.04.017. Epub 2018 Apr 28. Eur J Med Genet. 2019. PMID: 29709711

4

A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.

Márquez A, Vidal-Bralo L, Rodríguez-Rodríguez L, González-Gay MA, Balsa A, González-Álvaro I, Carreira P, Ortego-Centeno N, Ayala-Gutiérrez MM, García-Hernández FJ, González-Escribano MF, Sabio JM, Tolosa C, Suárez A, González A, Padyukov L, Worthington J, Vyse T, Alarcón-Riquelme ME, Martín J. Márquez A, et al. Ann Rheum Dis. 2017 Jan;76(1):286-294. doi: 10.1136/annrheumdis-2016-209436. Epub 2016 May 18. Ann Rheum Dis. 2017. PMID: 27193031 Free article.

5

Key features and clinical variability of COG6-CDG.

Rymen D, Winter J, Van Hasselt PM, Jaeken J, Kasapkara C, Gokçay G, Haijes H, Goyens P, Tokatli A, Thiel C, Bartsch O, Hecht J, Krawitz P, Prinsen HC, Mildenberger E, Matthijs G, Kornak U. Rymen D, et al. Mol Genet Metab. 2015 Nov;116(3):163-70. doi: 10.1016/j.ymgme.2015.07.003. Epub 2015 Jul 29. Mol Genet Metab. 2015. PMID: 26260076

6

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.

Shaheen R, Ansari S, Alshammari MJ, Alkhalidi H, Alrukban H, Eyaid W, Alkuraya FS. Shaheen R, et al. J Med Genet. 2013 Jul;50(7):431-6. doi: 10.1136/jmedgenet-2013-101527. Epub 2013 Apr 20. J Med Genet. 2013. PMID: 23606727

7

COG6 interacts with a subset of the Golgi SNAREs and is important for the Golgi complex integrity.

Kudlyk T, Willett R, Pokrovskaya ID, Lupashin V. Kudlyk T, et al. Traffic. 2013 Feb;14(2):194-204. doi: 10.1111/tra.12020. Epub 2012 Nov 12. Traffic. 2013. PMID: 23057818 Free PMC article.

8

[Association study on the microRNA-1 target gene polymorphism and the risk of premature coronary artery disease].

Zhang JJ, Wang LN, Feng Y, Zhi H, Ma GS, Ye XZ, Qian SS, Wang B. Zhang JJ, et al. Zhonghua Xin Xue Guan Bing Za Zhi. 2012 May;40(5):386-91. Zhonghua Xin Xue Guan Bing Za Zhi. 2012. PMID: 22883088 Chinese.

9

Polymorphism in miRNA-1 target site and circulating miRNA-1 phenotype are associated with the decreased risk and prognosis of coronary artery disease.

Wang L, Zhi H, Li Y, Ma G, Ye X, Yu X, Yang T, Jin H, Lu Z, Wei P. Wang L, et al. Int J Clin Exp Pathol. 2014 Jul 15;7(8):5093-102. eCollection 2014. Int J Clin Exp Pathol. 2014. PMID: 25197382 Free PMC article.

10

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.

Lübbehusen J, Thiel C, Rind N, Ungar D, Prinsen BH, de Koning TJ, van Hasselt PM, Körner C. Lübbehusen J, et al. Hum Mol Genet. 2010 Sep 15;19(18):3623-33. doi: 10.1093/hmg/ddq278. Epub 2010 Jul 6. Hum Mol Genet. 2010. PMID: 20605848

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