| CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review. | CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Al-Kateb H, Au PYB, Berland S, Cogne B, Demurger F, Fluss J, Isidor B, Frank LM, Varvagiannis K, Koolen DA, McDonald M, Montgomery S, Moortgat S, Deprez M, Karadurmus D, Paulsen J, Reis A, Rieger M, Vasileiou G, Willing M, Shinawi M. | 02/9/2024 |
| The role of Calmodulin Binding Transcription Activator 1 (CAMTA1) gene and its putative genetic partners in the human nervous system. | The role of Calmodulin Binding Transcription Activator 1 (CAMTA1) gene and its putative genetic partners in the human nervous system.
Alves G, Ornellas MH, Liehr T. | 11/5/2022 |
| CAMTA1, a novel antitumor gene, regulates proliferation and the cell cycle in glioma by inhibiting AKT phosphorylation. | CAMTA1, a novel antitumor gene, regulates proliferation and the cell cycle in glioma by inhibiting AKT phosphorylation.
He Z, Yang C, He Y, Gong B, Yin C, Feng J, Chen L, Tang J, Chen Y. | 01/22/2022 |
| Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant. | Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
Dzinovic I, Serranová T, Prouteau C, Colin E, Ziegler A, Winkelmann J, Jech R, Zech M. | 01/15/2022 |
| TAZ-CAMTA1 and YAP-TFE3 alter the TAZ/YAP transcriptome by recruiting the ATAC histone acetyltransferase complex. | TAZ-CAMTA1 and YAP-TFE3 alter the TAZ/YAP transcriptome by recruiting the ATAC histone acetyltransferase complex.
Merritt N, Garcia K, Rajendran D, Lin ZY, Zhang X, Mitchell KA, Borcherding N, Fullenkamp C, Chimenti MS, Gingras AC, Harvey KF, Tanas MR., Free PMC Article | 11/27/2021 |
| Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants. | Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
Jacobs EZ, Brown K, Byler MC, D'haenens E, Dheedene A, Henderson LB, Humberson JB, van Jaarsveld RH, Kanani F, Lebel RR, Millan F, Oegema R, Oostra A, Parker MJ, Rhodes L, Saenz M, Seaver LH, Si Y, Vanlander A, Vergult S, Callewaert B. | 11/27/2021 |
| De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability. | De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability.
Wijnen IGM, Veenstra-Knol HE, Vansenne F, Gerkes EH, de Koning T, Vos YJ, Tijssen MAJ, Sival D, Darin N, Vanhoutte EK, Oosterloo M, Pennings M, van de Warrenburg BP, Kamsteeg EJ., Free PMC Article | 05/29/2021 |
| CAMTA1 is a highly sensitive and specific marker for diagnosis of hepatic EHE. It is helpful for differentiation of hepatic EHE and angiosarcoma, especially in small biopsy samples. | CAMTA-1 Expression in 24 Cases of Hepatic Epithelioid Hemangioendothelioma in a Single Institute: Diagnostic Utility for Differential Diagnosis from Hepatic Angiosarcoma.
Jung H, Kim HN, Jang Y, Park CK, Ha SY., Free PMC Article | 03/14/2020 |
| the findings in this study suggest that hypomethylated CpG sites, present in four regions of the FOXP3 locus, CAMTA1 and FUT7 gene regions, can potentially be used to distinguish subsets of CD4+ T lymphocytes in both sexes. | Molecular Markers Distinguishing T Cell Subtypes With TSDR Strand-Bias Methylation.
Minskaia E, Saraiva BC, Soares MMV, Azevedo RI, Ribeiro RM, Kumar SD, Vieira AIS, Lacerda JF., Free PMC Article | 09/28/2019 |
| our data reveal that TDP-43 can function as an mRNA-specific translational enhancer. Moreover, since CAMTA1 and DENND4A are linked to neurodegeneration, they suggest that this function could contribute to disease. | TDP-43 enhances translation of specific mRNAs linked to neurodegenerative disease.
Neelagandan N, Gonnella G, Dang S, Janiesch PC, Miller KK, Küchler K, Marques RF, Indenbirken D, Alawi M, Grundhoff A, Kurtz S, Duncan KE., Free PMC Article | 08/31/2019 |
| This GWAS identified 2 loci at 10q23 (rs139550538; P = 1.87 x 10-9) and in the CAMTA1 gene at 1p36 (rs2412208, P = 3.53 x 10-8). genome-wide levels of significance that influence survival in patients with ALS. | Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.
Fogh I, Lin K, Tiloca C, Rooney J, Gellera C, Diekstra FP, Ratti A, Shatunov A, van Es MA, Proitsi P, Jones A, Sproviero W, Chiò A, McLaughlin RL, Sorarù G, Corrado L, Stahl D, Del Bo R, Cereda C, Castellotti B, Glass JD, Newhouse S, Dobson R, Smith BN, Topp S, van Rheenen W, Meininger V, Melki J, Morrison KE, Shaw PJ, Leigh PN, Andersen PM, Comi GP, Ticozzi N, Mazzini L, D'Alfonso S, Traynor BJ, Van Damme P, Robberecht W, Brown RH, Landers JE, Hardiman O, Lewis CM, van den Berg LH, Shaw CE, Veldink JH, Silani V, Al-Chalabi A, Powell J., Free PMC Article | 05/27/2017 |
| TFE3 gene translocations are compossible with CAMTA1 gene rearrangements in Epithelioid hemangioendotheliomas. | Epithelioid hemangioendotheliomas with TFE3 gene translocations are compossible with CAMTA1 gene rearrangements.
Lee SJ, Yang WI, Chung WS, Kim SK., Free PMC Article | 12/24/2016 |
| Nuclear CAMTA1 expression is sensitive and highly specific for epithelioid haemangioendothelioma and can be applied to diagnostic immunohistochemistry in epithelioid tumours. | CAMTA1 is a useful immunohistochemical marker for diagnosing epithelioid haemangioendothelioma.
Shibuya R, Matsuyama A, Shiba E, Harada H, Yabuki K, Hisaoka M. | 10/22/2016 |
| we demonstrate additional structural complexity in WWTR1-CAMTA1 fusion transcripts in epithelioid haemangioendothelioma | Molecular characterization of epithelioid haemangioendotheliomas identifies novel WWTR1-CAMTA1 fusion variants.
Patel NR, Salim AA, Sayeed H, Sarabia SF, Hollingsworth F, Warren M, Jakacky J, Tanas M, Oliveira AM, Rubin BP, Lazar AJ, López-Terrada D, Wang WL. | 08/20/2016 |
| Our findings elucidate the mechanistic basis of the oncogenic properties of TAZ-CAMTA1 fusion | Mechanism of action of a WWTR1(TAZ)-CAMTA1 fusion oncoprotein.
Tanas MR, Ma S, Jadaan FO, Ng CK, Weigelt B, Reis-Filho JS, Rubin BP., Free PMC Article | 07/30/2016 |
| Nuclear expression of CAMTA1 can be used in the differential diagnosis of epithelioid hemangioendotheliomas. | Nuclear Expression of CAMTA1 Distinguishes Epithelioid Hemangioendothelioma From Histologic Mimics.
Doyle LA, Fletcher CD, Hornick JL. | 04/16/2016 |
| Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes | Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.
Shinawi M, Coorg R, Shimony JS, Grange DK, Al-Kateb H. | 01/16/2016 |
| Epithelioid hemangioendothelioma, it's potential mimickers, and other benign or malignant vascular tumors showed strong and diffuse CAMTA1 expression, nullifying it's potential use as an adjunct in the differential diagnosis. | CAMTA1 immunostaining is not useful in differentiating epithelioid hemangioendothelioma from its potential mimickers.
Yusıflı Z, Kösemehmetoğlu K. | 04/11/2015 |
| Cell-cell communications between the stem cells and adjacent cardiomyocytes induce Ca(2+) signals that activate a myocardial gene program in the stem cells via a novel and early Ca(2+)-dependent intermediate, up-regulation of CAMTA1. | Calcium dependent CAMTA1 in adult stem cell commitment to a myocardial lineage.
Muller-Borer B, Esch G, Aldina R, Woon W, Fox R, Bursac N, Hiller S, Maeda N, Shepherd N, Jin JP, Hutson M, Anderson P, Kirby ML, Malouf NN., Free PMC Article | 02/14/2015 |
| Report CAMTA1-WWTR1 gene fusion in thoracic epithelioid hemangioendothelioma but not epithelioid angiosarcoma. | Thoracic epithelioid malignant vascular tumors: a clinicopathologic study of 52 cases with emphasis on pathologic grading and molecular studies of WWTR1-CAMTA1 fusions.
Anderson T, Zhang L, Hameed M, Rusch V, Travis WD, Antonescu CR., Free PMC Article | 02/14/2015 |
| The authors present evidence that loss-of-function of CAMTA1, a brain-specific calcium responsive transcription factor, is responsible for NPCA with or without ID. | Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Béri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C. | 01/5/2013 |
| Using reverse transcription-polymerase chain reaction (RT-PCR) and subsequent sequencing, we confirmed an identical WWTR1-CAMTA1 fusion transcript product from different nodules in each patient. | Monoclonality of multifocal epithelioid hemangioendothelioma of the liver by analysis of WWTR1-CAMTA1 breakpoints.
Errani C, Sung YS, Zhang L, Healey JH, Antonescu CR., Free PMC Article | 05/12/2012 |
| Results indicate that CAMTA1 genotype is associated with cognitive function in older adults with cardiovascular disease, because carriers of the T allele performed more poorly on tests of attention, executive function, and psychomotor speed. | CAMTA1 T polymorphism is associated with neuropsychological test performance in older adults with cardiovascular disease.
Miller LA, Gunstad J, Spitznagel MB, McCaffery J, McGeary J, Poppas A, Paul RH, Sweet LH, Cohen RA. | 03/10/2012 |
| CAMTA1 was identified as an miR-9/9* and miR- 17 target. CAMTA1 expression led to reduced neurosphere formation and growth of human glioblastomas in nude mice. Consistently, CAMTA1 and NPPA expression correlate with patient survival. | CAMTA1 is a novel tumour suppressor regulated by miR-9/9* in glioblastoma stem cells.
Schraivogel D, Weinmann L, Beier D, Tabatabai G, Eichner A, Zhu JY, Anton M, Sixt M, Weller M, Beier CP, Meister G., Free PMC Article | 12/17/2011 |
| the presence of a WWTR1-CAMTA1 fusion in all EHE tested from bone, soft tissue, and visceral location | A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites.
Errani C, Zhang L, Sung YS, Hajdu M, Singer S, Maki RG, Healey JH, Antonescu CR., Free PMC Article | 11/12/2011 |