1. To study cholinesterase distribution in patients with COLQ gene mutation, immunohistochemical staining and indirect immunofluorescence method was used to detect cholinesterase lack of disease in patients with resectable pancreatic or lung tissue samples, confirmed cholinesterase distribution in nerve fibers surrounding the vessels. Expression of cholinesterase in mutant patients was significantly higher than wildtype. PMID: 29630557
2. COLQ rs7609897-T association with diverticular disease in Iceland and Denmark population. PMID: 28585551
3. This data highlight COLQ (R410W) as a variant to initially test for in patients who have isolated limb-girdle myasthenia and are not responsive to acetylcholine receptor inhibitors, especially those from southern India. PMID: 30124556
4. Mutations in RAPSN and COLQ are the most common causes of congenital myasthenic syndrome in Israel. PMID: 28024842
5. Global splicing analysis with RNA-seq revealed that exons carrying the hnRNP H-binding GGGGG motif are predisposed to be skipped compared to those carrying the SRSF1-binding GGAGG motif in both human and mouse brains. PMID: 26282582
6. study identified the molecular cause underlying congenital myasthenic syndrome in two patients in a Syrian family, a novel missense mutation, homozygous single nucleotide substitution (c.1010T>C) in the COLQ gene PMID: 24938146
7. findings suggest that the impaired attachment of COOH-terminal mutants causing EP AChE deficiency is in part independent of MuSK, and that the COOH-terminus of ColQ may interact with other proteins at the BL PMID: 24281389
8. We proved that the missense mutations in ColQ-CTD cause endplate AChE deficiency by compromising ColQ-MuSK interaction at the NMJ. PMID: 23553736
9. This study presented that four cases illustrate the clinical spectrum of the recurrent homozygous W148X mutation in the COLQ gene. PMID: 22490774
10. Long-term follow-up of patients with COLQ mutations showed no genotype-phenotype correlation, 80% of patients were ambulant and 87% of patients had no respiratory trouble in spite of severe relapses. PMID: 22088788
11. two siblings have identical novel heterozygous mutations but different phenotypic expressions. PMID: 20370815
12. Three novel colq protein mutations in eight kinships. PMID: 11865139
13. Both patients presented a novel splicing mutation (IVS1-1G-->A) affecting the exon encoding the proline-rich attachment domain (PRAD), which interacts with acetylcholinesterase. PMID: 12609505
14. muscle fiber type-specific expression pattern of ColQ transcripts was regulated by a slow upsteam regulatory element (SURE) and a fast intronic regulatory element (FIRE) PMID: 16256971
15. we found familial occurrence of congenital ptosis in heterozygous carriers of 950delC. PMID: 17300939
16. Twenty different mutations of the COLQ gene have been identified in our patients: The mutations are missense (6), splice-site (3), in-frame deletion (1), non-sense (4) and frameshift (6). The majority of the mutations are protein truncating. PMID: 18180250

顯示更多

收起更多

HGNC: 2226

OMIM: 603033

KEGG: hsa:8292

STRING: 9606.ENSP00000373298

UniGene: Hs.146735