| COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum. | COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.
Hesami O, Ramezani M, Ghasemi A, Fatehi F, Okhovat AA, Ziaadini B, Kariminejad A, Nafissi S., Free PMC Article | 03/14/2024 |
| Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ. | Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
Barbeau S, Semprez F, Dobbertin A, Merriadec L, Roussange F, Eymard B, Sternberg D, Fournier E, Karasoy H, Martinat C, Legay C., Free PMC Article | 11/28/2023 |
| Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. | Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
Mishra S, Nair KV, Shukla A. | 09/26/2023 |
| The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction. | 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., Free PMC Article | 09/1/2023 |
| Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families. | Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families.
Kediha MI, Tazir M, Magnouche C, Sternberg D, Belarbi S, Eymard B, Ali Pacha L. | 06/16/2023 |
| COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon. | 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. | 04/16/2022 |
| The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein. | The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Laforgia N, De Cosmo L, Palumbo O, Ranieri C, Sesta M, Capodiferro D, Pantaleo A, Iapicca P, Lastella P, Capozza M, Schettini F, Bukvic N, Bagnulo R, Resta N., Free PMC Article | 07/24/2021 |
| 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. | Newly discovered COLQ gene mutation and its clinical features in patients with acetyl cholinesterase deficiency.
Zhang QL, Xu MJ, Wang TL, Zhu ZQ, Lai F, Zheng XC. | 12/29/2018 |
| COLQ rs7609897-T association with diverticular disease in Iceland and Denmark population. | Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.
Sigurdsson S, Alexandersson KF, Sulem P, Feenstra B, Gudmundsdottir S, Halldorsson GH, Olafsson S, Sigurdsson A, Rafnar T, Thorgeirsson T, Sørensen E, Nordholm-Carstensen A, Burcharth J, Andersen J, Jørgensen HS, Possfelt-Møller E, Ullum H, Thorleifsson G, Masson G, Thorsteinsdottir U, Melbye M, Gudbjartsson DF, Stefansson T, Jonsdottir I, Stefansson K., Free PMC Article | 12/22/2018 |
| 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. | Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.
Selvam P, Arunachal G, Danda S, Chapla A, Sivadasan A, Alexander M, Thomas MM, Thomas NJ. | 11/24/2018 |
| Mutations in RAPSN and COLQ are the most common causes of congenital myasthenic syndrome in Israel. | Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
Aharoni S, Sadeh M, Shapira Y, Edvardson S, Daana M, Dor-Wollman T, Mimouni-Bloch A, Halevy A, Cohen R, Sagie L, Argov Z, Rabie M, Spiegel R, Chervinsky I, Orenstein N, Engel AG, Nevo Y., Free PMC Article | 02/17/2018 |
| 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. | SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.
Rahman MA, Azuma Y, Nasrin F, Takeda J, Nazim M, Bin Ahsan K, Masuda A, Engel AG, Ohno K., Free PMC Article | 08/6/2016 |
| 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 | Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.
Matlik HN, Milhem RM, Saadeldin IY, Al-Jaibeji HS, Al-Gazali L, Ali BR. | 03/28/2015 |
| 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 | COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.
Arredondo J, Lara M, Ng F, Gochez DA, Lee DC, Logia SP, Nguyen J, Maselli RA., Free PMC Article | 05/31/2014 |
| We proved that the missense mutations in ColQ-CTD cause endplate AChE deficiency by compromising ColQ-MuSK interaction at the NMJ. | Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.
Nakata T, Ito M, Azuma Y, Otsuka K, Noguchi Y, Komaki H, Okumura A, Shiraishi K, Masuda A, Natsume J, Kojima S, Ohno K. | 02/1/2014 |
| This study presented that four cases illustrate the clinical spectrum of the recurrent homozygous W148X mutation in the COLQ gene. | Recurrent COLQ mutation in congenital myasthenic syndrome.
Guven A, Demirci M, Anlar B. | 08/11/2012 |
| 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. | Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
Wargon I, Richard P, Kuntzer T, Sternberg D, Nafissi S, Gaudon K, Lebail A, Bauche S, Hantaï D, Fournier E, Eymard B, Stojkovic T. | 08/4/2012 |
| two siblings have identical novel heterozygous mutations but different phenotypic expressions. | Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.
Yeung WL, Lam CW, Ng PC. | 02/26/2011 |
| 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. | Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H. | 01/21/2010 |
| Both patients presented a novel splicing mutation (IVS1-1G-->A) affecting the exon encoding the proline-rich attachment domain (PRAD), which interacts with acetylcholinesterase. | Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.
Ishigaki K, Nicolle D, Krejci E, Leroy JP, Koenig J, Fardeau M, Eymard B, Hantaï D. | 01/21/2010 |
| we found familial occurrence of congenital ptosis in heterozygous carriers of 950delC. | Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.
Schreiner F, Hoppenz M, Klaeren R, Reimann J, Woelfle J. | 01/21/2010 |
| Three novel colq protein mutations in eight kinships. | Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.
Shapira YA, Sadeh ME, Bergtraum MP, Tsujino A, Ohno K, Shen XM, Brengman J, Edwardson S, Matoth I, Engel AG. | 01/21/2010 |
| 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) | Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers.
Ting AK, Siow NL, Kong LW, Tsim KW. | 01/21/2010 |