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Page 1
Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations.
Shao S, Shi G, Bi FF, Huang K. Shao S, et al. Curr Neuropharmacol. 2023;21(7):1594-1605. doi: 10.2174/1570159X21666230126145652. Curr Neuropharmacol. 2023. PMID: 36703579 Free PMC article. Review.
In addition, AChEIs should be avoided in CMS patients with COLQ mutations, as 90.5% (105/116) of patients treated with AChEIs showed either no or negative effects. CONCLUSION: (1) beta-adrenergic agonist therapy is the first pharmacological strategy for treating CMS with …
In addition, AChEIs should be avoided in CMS patients with COLQ mutations, as 90.5% (105/116) of patients treated with AChEIs showed …
Myasthenia gravis.
Gilhus NE, Tzartos S, Evoli A, Palace J, Burns TM, Verschuuren JJGM. Gilhus NE, et al. Nat Rev Dis Primers. 2019 May 2;5(1):30. doi: 10.1038/s41572-019-0079-y. Nat Rev Dis Primers. 2019. PMID: 31048702 Review.
COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon.
Kline BP, Yochum GS, Brinton DL, Schieffer KM, Weaver T, Harris L, Deiling S, Berg AS, Koltun WA. Kline BP, et al. J Surg Res. 2021 Nov;267:397-403. doi: 10.1016/j.jss.2021.05.043. Epub 2021 Jul 2. J Surg Res. 2021. PMID: 34225052
To evaluate gene expression in colon tissue, qPCR was performed on 24 patients with diverticulitis, and COLQ was localized using immunohistochemistry. RESULTS: The ARHGAP15 and COLQ SNPs were significantly associated with both diverticular disease and specifically d …
To evaluate gene expression in colon tissue, qPCR was performed on 24 patients with diverticulitis, and COLQ was localized using immu …
The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.
Uyen Dao TM, Barbeau S, Messéant J, Della-Gaspera B, Bouceba T, Semprez F, Legay C, Dobbertin A. Uyen Dao TM, et al. J Biol Chem. 2023 Aug;299(8):104962. doi: 10.1016/j.jbc.2023.104962. Epub 2023 Jun 23. J Biol Chem. 2023. PMID: 37356721 Free PMC article.
In addition, we show that the LRP4 N-terminal region, which contains the agrin-binding sites, is also crucial for ColQ binding to LRP4. Moreover, ColQ-LRP4 interaction was reduced in the presence of agrin, suggesting that agrin and ColQ compete for binding to …
In addition, we show that the LRP4 N-terminal region, which contains the agrin-binding sites, is also crucial for ColQ binding to LRP …
COLQ-related congenital myasthenic syndrome: An integrative view.
Eshaghian T, Rabbani B, Badv RS, Mikaeeli S, Gharib B, Iyadurai S, Mahdieh N. Eshaghian T, et al. Neurogenetics. 2023 Jul;24(3):189-200. doi: 10.1007/s10048-023-00719-7. Epub 2023 May 25. Neurogenetics. 2023. PMID: 37231228
In addition, we describe a COLQ homozygous variant a new patient and discuss it utilizing the Phyre2 and I-TASSER programs. ...Analyses and descriptions of these COLQ variants may be helpful in clinical trial readiness and potential development of novel therapies in …
In addition, we describe a COLQ homozygous variant a new patient and discuss it utilizing the Phyre2 and I-TASSER programs. ...Analys …
Congenital Myasthenic Syndromes Overview.
Abicht A, Müller JS, Lochmüller H. Abicht A, et al. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301347 Free Books & Documents. Review.
Developmental consequences of the ColQ/MuSK interactions.
Karmouch J, Dobbertin A, Sigoillot S, Legay C. Karmouch J, et al. Chem Biol Interact. 2013 Mar 25;203(1):287-91. doi: 10.1016/j.cbi.2012.10.006. Epub 2012 Oct 23. Chem Biol Interact. 2013. PMID: 23089045 Review.
CollagenQ (ColQ) is a specific collagen that anchors acetylcholinesterase (AChE) in the synaptic basal lamina of the neuromuscular junction (NMJ). ...In this review, after a brief survey on ColQ, we summarize our recent data demonstrating that ColQ, in additi …
CollagenQ (ColQ) is a specific collagen that anchors acetylcholinesterase (AChE) in the synaptic basal lamina of the neuromuscular ju …
Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature.
El Kadiri Y, Ratbi I, Sefiani A, Lyahyai J. El Kadiri Y, et al. BMC Neurol. 2022 Aug 5;22(1):292. doi: 10.1186/s12883-022-02822-y. BMC Neurol. 2022. PMID: 35932018 Free PMC article. Review.
CMS with acetylcholinesterase deficiency, in particular, was determined to be due to biallelic mutations of COLQ gene with early-onset clinical signs. Here, we report clinical features and novel molecular findings of COLQ-related CMS in a Moroccan patient with a rev …
CMS with acetylcholinesterase deficiency, in particular, was determined to be due to biallelic mutations of COLQ gene with early-onse …
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Ohno K, et al. Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730. Int J Mol Sci. 2023. PMID: 36835142 Free PMC article. Review.
A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TO …
A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK …
227 results