| Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG. | 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. | 08/7/2021 |
| COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development. | 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. | 07/3/2021 |
| Ptahogenic compound heterozygous variants of the COG6 gene were identified in a neonatal patient. | 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. | 03/9/2019 |
| COG6 is a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus. | 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. | 06/3/2017 |
| study presents 7 additional patients with 4 novel COG6 mutations; genotype-phenotype correlation can be discerned ranging from deep intronic mutations found in Shaheen syndrome as the mildest form to loss-of-function mutations leading to early lethal congenital disorders of glycosylation phenotypes | 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. | 09/3/2016 |
| The aim of this study was to investigate whether the HCP5, TNIP1, TNFAIP3, SPATA2 and COG6 genes were genetic risk factors for psoriasis in Chinese population. | Investigating the genetic association of HCP5, SPATA2, TNIP1, TNFAIP3 and COG6 with psoriasis in Chinese population.
Li XL, Yu H, Wu GS. | 07/25/2015 |
| Our findings implicate COG6 rs9548934C-->T genotypes and circulating miRNA-1 phenotype in modulating the occurrence and major adverse cardiovascular events of coronary artery disease. | 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., Free PMC Article | 06/20/2015 |
| Targeted silencing of components of lobe B of the COG complex, namely COG5, COG6, COG7 and COG8, inhibited HIV-1 replication | Target silencing of components of the conserved oligomeric Golgi complex impairs HIV-1 replication.
Liu S, Dominska-Ngowe M, Dykxhoorn DM., Free PMC Article | 06/6/2015 |
| data implicate COG6 in the pathogenesis of a novel hypohidrotic disorder in humans that is distinct from congenital disorders of glycosylation. | 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. | 02/15/2014 |
| COG6 interaction with SNARE proteins via universal SNARE-binding motif of COG6 is important for Golgi complex intergrity. | 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., Free PMC Article | 06/15/2013 |
| COG6 rs9548934C-->T polymorphism is associated with lower risk of premature coronary artery disease, especially in female subjects and subjects with lower serum lipid levels. | [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. | 06/15/2013 |
| COG directly and positively regulates endosome-to-TGN retrograde transport by specific and direct interaction with the t-SNARE Stx6 via its Cog6 subunit. | The COG complex interacts directly with Syntaxin 6 and positively regulates endosome-to-TGN retrograde transport.
Laufman O, Hong W, Lev S., Free PMC Article | 10/8/2011 |
| This paper reports a new congenital disorder caused by mutations in the human COG8 gene and describes the affect this mutation has on the other COG components. | COG8 deficiency causes new congenital disorder of glycosylation type IIh.
Kranz C, Ng BG, Sun L, Sharma V, Eklund EA, Miura Y, Ungar D, Lupashin V, Winkel RD, Cipollo JF, Costello CE, Loh E, Hong W, Freeze HH. | 02/6/2009 |