| Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia. | Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia.
Koehler K, Hmida D, Schlossmann J, Landgraf D, Reisch N, Schuelke M, Huebner A. | 10/9/2021 |
| P53-induced MRVI1 mediates carcinogenesis of colorectal cancer. | P53-induced MRVI1 mediates carcinogenesis of colorectal cancer.
Ma L, Wang H, Sun Y, Yang D, Pu L, Zhang X. | 07/3/2021 |
| forced expression of MRVI1 in miR-940 mimic transfected cells abolished the facilitation of miR-940 on cell proliferation, migration, and invasion of RL95-2 and KLE cells. In conclusion, our study demonstrates that miR-940 might function as a reliable diagnostic and prognostic signature in endometrial carcinoma. | miR-940 potentially promotes proliferation and metastasis of endometrial carcinoma through regulation of MRVI1.
Zhou Z, Xu YP, Wang LJ, Kong Y., Free PMC Article | 08/1/2020 |
| p.P186S substitution (rs35857561) in MRVI1 that segregated with moyamoya syndrome in both the Italian and German family. rs35857561 polymorphism in MRVI1 may be a genetic susceptibility factor for moyamoya in European patients with neurofibromatosis type 1. MRVI1 is a functional partner of ITPR1, PRKG1 and GUCY1A3, which are involved in response to nitric oxide. | Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.
Santoro C, Giugliano T, Kraemer M, Torella A, Schwitalla JC, Cirillo M, Melis D, Berlit P, Nigro V, Perrotta S, Piluso G., Free PMC Article | 01/19/2019 |
| In the present study we analyzed the structure and function of the human IRAG/MRVI1 gene | Truncated IRAG variants modulate cGMP-mediated inhibition of human colonic smooth muscle cell contraction.
Werder Av, Mayr M, Schneider G, Oesterle D, Fritsch RM, Seidler B, Schlossmann J, Hofmann F, Schemann M, Allescher HD, Schmid RM, Saur D. | 01/21/2012 |
| IRAG is required for PKG1beta-regulated cyclic calcium release during motility of osteoclasts | Functional osteoclast attachment requires inositol-1,4,5-trisphosphate receptor-associated cGMP-dependent kinase substrate.
Yaroslavskiy BB, Turkova I, Wang Y, Robinson LJ, Blair HC., Free PMC Article | 01/22/2011 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
Johnson AD, Yanek LR, Chen MH, Faraday N, Larson MG, Tofler G, Lin SJ, Kraja AT, Province MA, Yang Q, Becker DM, O'Donnell CJ, Becker LC., Free PMC Article | 06/30/2010 |
| 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) | Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.
Xu J, Zheng SL, Isaacs SD, Wiley KE, Wiklund F, Sun J, Kader AK, Li G, Purcell LD, Kim ST, Hsu FC, Stattin P, Hugosson J, Adolfsson J, Walsh PC, Trent JM, Duggan D, Carpten J, Grönberg H, Isaacs WB., Free PMC Article | 04/7/2010 |
| These findings reveal that interaction between IRAG and InsP3RI has a central role in NO/cGMP-dependent inhibition of platelet aggregation and in vivo thrombosis. | IRAG mediates NO/cGMP-dependent inhibition of platelet aggregation and thrombus formation.
Antl M, von Brühl ML, Eiglsperger C, Werner M, Konrad I, Kocher T, Wilm M, Hofmann F, Massberg S, Schlossmann J. | 01/21/2010 |
| cGMP-dependent protein kinase Ibeta binds to TFII-I and IRAG through a common interaction motif | Identification of the interface between cGMP-dependent protein kinase Ibeta and its interaction partners TFII-I and IRAG reveals a common interaction motif.
Casteel DE, Boss GR, Pilz RB. | 01/21/2010 |
| IRAG appears to be essentially involved in the NO/cGK-dependent inhibition of InsP(3)-dependent Ca(2+)-signaling in colonic smooth muscle | InsP3R-associated cGMP kinase substrate (IRAG) is essential for nitric oxide-induced inhibition of calcium signaling in human colonic smooth muscle.
Fritsch RM, Saur D, Kurjak M, Oesterle D, Schlossmann J, Geiselhöringer A, Hofmann F, Allescher HD. | 01/21/2010 |
| Reports use of non-AUG (CUG) translation initiation codon in one of the transcript variants of MRVI1 gene in mouse and human. | Mrvi1, a common MRV integration site in BXH2 myeloid leukemias, encodes a protein with homology to a lymphoid-restricted membrane protein Jaw1.
Shaughnessy JD Jr, Largaespada DA, Tian E, Fletcher CF, Cho BC, Vyas P, Jenkins NA, Copeland NG. | 10/1/2003 |