| Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants. | Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Bosman W, Franken GAC, de Las Heras J, Madariaga L, Barakat TS, Oostenbrink R, van Slegtenhorst M, Perdomo-Ramírez A, Claverie-Martín F, van Eerde AM, Vargas-Poussou R, Dubourg LD, González-Recio I, Martínez-Cruz LA, de Baaij JHF, Hoenderop JGJ., Free PMC Article | 03/28/2024 |
| Decreased CNNM2 expression in prefrontal cortex affects sensorimotor gating function, cognition, dendritic spine morphogenesis and risk of schizophrenia. | Decreased CNNM2 expression in prefrontal cortex affects sensorimotor gating function, cognition, dendritic spine morphogenesis and risk of schizophrenia.
Zhou DY, Su X, Wu Y, Yang Y, Zhang L, Cheng S, Shao M, Li W, Zhang Z, Wang L, Lv L, Li M, Song M., | 12/22/2023 |
| The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2). | The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet AC, Germanaud D, Tejada MI, Kroes HY, Nievelstein RAJ, Brimble E, Ruzhnikov M, Claverie-Martin F, Szczepańska M, Ćuk M, Latta F, Konrad M, Martínez-Cruz LA, Bindels RJM, Hoenderop JGJ, Schlingmann KP, de Baaij JHF., Free PMC Article | 04/9/2022 |
| Novel variant in the CNNM2 gene associated with dominant hypomagnesemia. | Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.
García-Castaño A, Madariaga L, Antón-Gamero M, Mejia N, Ponce J, Gómez-Conde S, Pérez de Nanclares G, De la Hoz AB, Martínez R, Saso L, Martínez de LaPiscina I, Urrutia I, Velasco O, Aguayo A, Castaño L, Gaztambide S., Free PMC Article | 12/19/2020 |
| This study determined the first crystal structures of the cyclic nucleotide-binding homology (CNBH) domain domains of CNNM2 and CNNM3 at 2.6 and 1.9 A resolutions. | The cyclic nucleotide-binding homology domain of the integral membrane protein CNNM mediates dimerization and is required for Mg(2+) efflux activity.
Chen YS, Kozlov G, Fakih R, Funato Y, Miki H, Gehring K., Free PMC Article | 04/20/2019 |
| CNNM2 single nucleotide polymorphisms association with the risk of hypertension in Chinese Han population. | Associations between polymorphisms of the CXCL12 and CNNM2 gene and hypertension risk: A case-control study.
Liu X, Chen L, Zhang Y, Wu X, Zhao Y, Wu X, Chen W, Wu C, Chen Y. | 09/22/2018 |
| In this large-scale, Han Chinese population-based genetic association study for genetic susceptibility to schizophrenia of a three-gene cluster region, AS3MT-CNNM2-NT5C2, two SNPs with independent effects, rs11191419 and rs11191514, were identified. Rs11191419 is located on the 5' (potential promoter) region of AS3MT, while rs11191514 is located in one of the introns of CNNM2. | Two-stage replication of previous genome-wide association studies of AS3MT-CNNM2-NT5C2 gene cluster region in a large schizophrenia case-control sample from Han Chinese population.
Guan F, Zhang T, Li L, Fu D, Lin H, Chen G, Chen T. | 12/23/2017 |
| this study implicates altered neural expression of BORCS7, AS3MT, and NT5C2 in susceptibility to schizophrenia arising from genetic variation at the chromosome 10q24 locus | Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain.
Duarte RRR, Troakes C, Nolan M, Srivastava DP, Murray RM, Bray NJ., Free PMC Article | 09/23/2017 |
| Sensitivity of CNNM2 expression to extracellular Mg(2+) depletion depends on cell type. | Human CNNM2 is not a Mg(2+) transporter per se.
Sponder G, Mastrototaro L, Kurth K, Merolle L, Zhang Z, Abdulhanan N, Smorodchenko A, Wolf K, Fleig A, Penner R, Iotti S, Aschenbach JR, Vormann J, Kolisek M. | 08/26/2017 |
| meta-analysis of two Caucasian cohorts did not show an association between five aneurysm associated loci and sporadic brain Arteriovenous malformations. | Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain.
Kremer PH, Koeleman BP, Pawlikowska L, Weinsheimer S, Bendjilali N, Sidney S, Zaroff JG, Rinkel GJ, van den Berg LH, Ruigrok YM, de Kort GA, Veldink JH, Kim H, Klijn CJ., Free PMC Article | 06/27/2015 |
| The T568I mutation causes the magnesium transporter, CNNM2, to become 'locked' in its flat form. | Nucleotide binding triggers a conformational change of the CBS module of the magnesium transporter CNNM2 from a twisted towards a flat structure.
Corral-Rodríguez MÁ, Stuiver M, Abascal-Palacios G, Diercks T, Oyenarte I, Ereño-Orbea J, de Opakua AI, Blanco FJ, Encinar JA, Spiwok V, Terashima H, Accardi A, Müller D, Martínez-Cruz LA., Free PMC Article | 01/24/2015 |
| Cells expressing mutated CNNM2 proteins did not show increased Mg(2+) uptake. | CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
Arjona FJ, de Baaij JH, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG., Free PMC Article | 11/29/2014 |
| This CNNM2 risk variant rs7914558 may have an impact on neural systems relevant to social cognition. | Effects of a novel schizophrenia risk variant rs7914558 at CNNM2 on brain structure and attributional style.
Rose EJ, Hargreaves A, Morris D, Fahey C, Tropea D, Cummings E, Caltagirone C, Bossù P, Chiapponi C, Piras F, Spalletta G, Gill M, Corvin A, Donohoe G. | 09/13/2014 |
| Our findings suggest that the genetic variant in the CNNM2 gene could be implicated in the pathogenesis of schizophrenia through the gray matter volumetric vulnerability of the orbital regions in the inferior frontal gyri. | The impact of the genome-wide supported variant in the cyclin M2 gene on gray matter morphology in schizophrenia.
Ohi K, Hashimoto R, Yamamori H, Yasuda Y, Fujimoto M, Umeda-Yano S, Fukunaga M, Watanabe Y, Iwase M, Kazui H, Takeda M., Free PMC Article | 08/23/2014 |
| crystals of CNNM2 belonged to space groups P2(1)2(1)2 and I222 (or I2(1)2(1)2(1)) and diffracted X-rays to 2.0 and 3.6 A resolution, respectively, using synchrotron radiation | Purification, crystallization and preliminary crystallographic analysis of the CBS-domain pair of cyclin M2 (CNNM2).
Gómez-García I, Stuiver M, Ereño J, Oyenarte I, Corral-Rodríguez MA, Müller D, Martínez-Cruz LA., Free PMC Article | 12/29/2012 |
| analysis of structure of CNNM2 and its post-translational modifications | Membrane topology and intracellular processing of cyclin M2 (CNNM2).
de Baaij JH, Stuiver M, Meij IC, Lainez S, Kopplin K, Venselaar H, Müller D, Bindels RJ, Hoenderop JG., Free PMC Article | 07/21/2012 |
| ACDP2 splice-variant 1 is a functional Mg2+-transporting entity per se. | Splice-variant 1 of the ancient domain protein 2 (ACDP2) complements the magnesium-deficient growth phenotype of Salmonella enterica sv. typhimurium strain MM281.
Sponder G, Svidova S, Schweigel M, Vormann J, Kolisek M. | 11/19/2011 |
| The CNNM2 locus is associated with serum Mg(2+) concentrations. | CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.
Stuiver M, Lainez S, Will C, Terryn S, Günzel D, Debaix H, Sommer K, Kopplin K, Thumfart J, Kampik NB, Querfeld U, Willnow TE, Němec V, Wagner CA, Hoenderop JG, Devuyst O, Knoers NV, Bindels RJ, Meij IC, Müller D., Free PMC Article | 05/21/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesBlood pressure and hypertension are associated with 7 loci in the Japanese population.
Takeuchi F, Isono M, Katsuya T, Yamamoto K, Yokota M, Sugiyama T, Nabika T, Fujioka A, Ohnaka K, Asano H, Yamori Y, Yamaguchi S, Kobayashi S, Takayanagi R, Ogihara T, Kato N. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A. | 12/2/2009 |