Calmodulinopathy in Japanese Children - Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy. | Calmodulinopathy in Japanese Children - Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy. Fukuyama M, Horie M, Kato K, Aoki H, Fujita S, Yoshida Y, Sakazaki H, Toda T, Ueno M, Izumi G, Momoi N, Muneuchi J, Makiyama T, Nakagawa Y, Ohno S. | 12/7/2023 |
CALM3 affects the prognosis of leukemia and hemorrhoids. | CALM3 affects the prognosis of leukemia and hemorrhoids. He J, Ni Z, Li Z., Free PMC Article | 11/28/2023 |
Novel CALM3 Variant Causing Calmodulinopathy With Variable Expressivity in a 4-Generation Family. | Novel CALM3 Variant Causing Calmodulinopathy With Variable Expressivity in a 4-Generation Family. Kato K, Isbell HM, Fressart V, Denjoy I, Debbiche A, Itoh H, Poinsot J, George AL Jr, Coulombe A, Shea MA, Guicheney P. | 05/7/2022 |
Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death Victims. | Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death Victims. Clemens DJ, Gray B, Bagnall RD, Tester DJ, Giudicessi JR, Maleszewski JJ, Crotti L, Schwartz PJ, Matthews E, Semsarian C, Behr ER, Ackerman MJ., Free PMC Article | 10/30/2021 |
Novel CALM3-E141K and CALM1-E141V are associated with congenital arrhythmia susceptibility. | Genetic Mosaicism in Calmodulinopathy. Wren LM, Jiménez-Jáimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RY, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, George AL Jr., Free PMC Article | 07/18/2020 |
Protein molecular diagnosis of autosomal dominant calmodulin mutations causing irregular heart rhythms has been presented. | Protein phenotype diagnosis of autosomal dominant calmodulin mutations causing irregular heart rhythms. Shaik NA, Awan ZA, Verma PK, Elango R, Banaganapalli B. | 10/12/2019 |
Study identified the structure and function of Ca2+-dependent interaction of CaM with the inactivation gate (IG) of NaV1.5 channels. Models of full-length NaV1.5 suggest that CaM binding to the IG directly modulates its function by destabilizing the inactivated state, which would promote resetting of the IG after channels close. | A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel. Johnson CN, Potet F, Thompson MK, Kroncke BM, Glazer AM, Voehler MW, Knollmann BC, George AL Jr, Chazin WJ., Free PMC Article | 02/23/2019 |
results suggest that ACE2, TNNI3K and CALM3 polymorphisms are associated with increased risk of hypertrophic cardiomyopathies and dilated cardiomyopathies and may act as disease modifiers of these diseases. | ACE2, CALM3 and TNNI3K polymorphisms as potential disease modifiers in hypertrophic and dilated cardiomyopathies. Kumar A, Rani B, Sharma R, Kaur G, Prasad R, Bahl A, Khullar M. | 07/14/2018 |
We discovered a novel CPVT mutation in the CALM3 gene that shares functional characteristics with established CPVT-associated mutations in CALM1. A small proportion of A103V-CaM is sufficient to evoke arrhythmogenic Ca disturbances via ryanodine receptor 2 dysregulation, which explains the autosomal dominant inheritance. | Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. Gomez-Hurtado N, Boczek NJ, Kryshtal DO, Johnson CN, Sun J, Nitu FR, Cornea RL, Chazin WJ, Calvert ML, Tester DJ, Ackerman MJ, Knollmann BC., Free PMC Article | 06/24/2017 |
the spectrum and prevalence of pathogenic CaM variants in a cohort of genetically elusive long QT syndrome, were determined. | Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G. Boczek NJ, Gomez-Hurtado N, Ye D, Calvert ML, Tester DJ, Kryshtal D, Hwang HS, Johnson CN, Chazin WJ, Loporcaro CG, Shah M, Papez AL, Lau YR, Kanter R, Knollmann BC, Ackerman MJ., Free PMC Article | 01/14/2017 |
CALM3 had the highest ranking in the 1629-gene LQTS nodal network of the 7 genes identified through our filtering process. | CALM3 mutation associated with long QT syndrome. Reed GJ, Boczek NJ, Etheridge SP, Ackerman MJ., Free PMC Article | 09/26/2015 |
the association of EGFR, CALM3 and SMARCD1 gene polymorphisms with bone mineral density in white women, as conducted. | Comprehensive analysis of the association of EGFR, CALM3 and SMARCD1 gene polymorphisms with BMD in Caucasian women. Zhou QH, Zhao LJ, Wang P, Badr R, Xu XJ, Bu FX, Lappe J, Recker R, Zhou Y, Ye A, Zhou BT., Free PMC Article | 07/25/2015 |
Differentiation paralleled the activation of Wnt5/Calmodulin signalling by autocrine/paracrine intense secretion of Wnt5a and Wnt5b | Mesodermal progenitor cells (MPCs) differentiate into mesenchymal stromal cells (MSCs) by activation of Wnt5/calmodulin signalling pathway. Fazzi R, Pacini S, Carnicelli V, Trombi L, Montali M, Lazzarini E, Petrini M., Free PMC Article | 01/28/2012 |
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | See all PubMed (2) articlesUsing genetic and clinical factors to predict tacrolimus dose in renal transplant recipients. Wang P, Mao Y, Razo J, Zhou X, Wong ST, Patel S, Elliott E, Shea E, Wu AH, Gaber AO. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators. | 09/15/2010 |
Observational study and genome-wide association study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Biological pathway-based genome-wide association analysis identified the vasoactive intestinal peptide (VIP) pathway important for obesity. Liu YJ, Guo YF, Zhang LS, Pei YF, Yu N, Yu P, Papasian CJ, Deng HW., Free PMC Article | 06/30/2010 |
data suggest that the -34T>A CALM3 polymorphism is a modifier gene for Familial Hypertrophy Cardiomyopathy, potentially by affecting expression level of CALM3 and therefore Ca(2+)-handling and development of hypertrophy. | A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy. Friedrich FW, Bausero P, Sun Y, Treszl A, Krämer E, Juhr D, Richard P, Wegscheider K, Schwartz K, Brito D, Arbustini E, Waldenström A, Isnard R, Komajda M, Eschenhagen T, Carrier L, EUROGENE Heart Failure Project, Friedrich FW, Bausero P, Sun Y, Treszl A, Krämer E, Juhr D, Richard P, Wegscheider K, Schwartz K, Brito D, Arbustini E, Waldenström A, Isnard R, Komajda M, Eschenhagen T, Carrier L, EUROGENE Heart Failure Project. | 01/21/2010 |
Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy. Friedrich FW, Bausero P, Sun Y, Treszl A, Krämer E, Juhr D, Richard P, Wegscheider K, Schwartz K, Brito D, Arbustini E, Waldenström A, Isnard R, Komajda M, Eschenhagen T, Carrier L, EUROGENE Heart Failure Project, Friedrich FW, Bausero P, Sun Y, Treszl A, Krämer E, Juhr D, Richard P, Wegscheider K, Schwartz K, Brito D, Arbustini E, Waldenström A, Isnard R, Komajda M, Eschenhagen T, Carrier L, EUROGENE Heart Failure Project. | 05/17/2009 |
These findings demonstrate that physical interaction of CaM with recombinant and native 5-HT(2C) receptors is critical for G protein-independent, arrestin-dependent receptor signaling. | Physical interaction of calmodulin with the 5-hydroxytryptamine2C receptor C-terminus is essential for G protein-independent, arrestin-dependent receptor signaling. Labasque M, Reiter E, Becamel C, Bockaert J, Marin P., Free PMC Article | 01/21/2010 |
The rat and mouse 3'-UTR region had an identity of approximately 80% with the human. Three common polyadenylation signals in the 3'-UTR may account for the multiple CaM III transcripts. | Sequence homology of the 3'-untranslated region of calmodulin III in mammals. Friedberg F, Rhoads AR. | 01/21/2010 |