HEXIM1, HEXIM P-TEFb complex subunit 1, 10614

N. diseases: 46; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.010 GeneticVariation phenotype BEFREE We report a boy with global developmental delay and seizures carrying the de novo MEPCE nonsense variant c.1552 C > T/p.(Arg518*). mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. 31467394 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 GeneticVariation disease BEFREE We report a boy with global developmental delay and seizures carrying the de novo MEPCE nonsense variant c.1552 C > T/p.(Arg518*). mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. 31467394 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 Biomarker group BEFREE We previously reported that the tumor suppressor HEXIM1 is a mediator of KDM5B recruitment to its target genes, and HEXIM1 is required for the inhibition of nuclear hormone receptor activity by KDM5B. 31776402 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 AlteredExpression disease BEFREE We have been studying the role of Hexamethylene bisacetamide (HMBA) Induced Protein 1 (HEXIM1) as a tumor suppressor whose expression is decreased in tamoxifen resistant and metastatic breast cancer. 27238569 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 AlteredExpression group BEFREE We have been studying the role of Hexamethylene bisacetamide (HMBA) Induced Protein 1 (HEXIM1) as a tumor suppressor whose expression is decreased in tamoxifen resistant and metastatic breast cancer. 27238569 2016
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.010 AlteredExpression disease BEFREE We found that HEXIM1 mRNA and protein levels are up-regulated during differentiation of murine erythroleukemia cells upon treatment with HMBA or DMSO. 16222702 2006
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		0.010 AlteredExpression disease BEFREE We found that HEXIM1 mRNA and protein levels are up-regulated during differentiation of murine erythroleukemia cells upon treatment with HMBA or DMSO. 16222702 2006
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
Erythroleukemia (Erythroid/Myeloid) 		0.010 AlteredExpression disease BEFREE We found that HEXIM1 mRNA and protein levels are up-regulated during differentiation of murine erythroleukemia cells upon treatment with HMBA or DMSO. 16222702 2006
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 AlteredExpression group BEFREE We find that the muscle degeneration observed in a C. elegans model of dystrophin-based muscular dystrophy can be suppressed by clp-1 inactivation and that nemadipine-A inhibition of the EGL-19 calcium channel reveals that Ca(2+) dysfunction underlies the C. elegans MyoD model of myopathy. 22479198 2012
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 AlteredExpression group BEFREE We asked whether reduced expression of Hexim1 would also afford protection against T. cruzi-induced cardiomyopathy. 28951318 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 AlteredExpression group BEFREE Utility of HEXIM1 mRNA may be limited to higher concentrations.<i>Clin Cancer Res; 23(4); 1025-35.©2017 AACR</i>. 28073847 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 AlteredExpression group BEFREE Utility of HEXIM1 mRNA may be limited to higher concentrations.<i>Clin Cancer Res; 23(4); 1025-35.©2017 AACR</i>. 28073847 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE Use of a novel cytotoxic HEXIM1 peptide in the directed breast cancer therapy. 26734838 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 Biomarker disease BEFREE Use of a novel cytotoxic HEXIM1 peptide in the directed breast cancer therapy. 26734838 2016
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy 		0.020 Biomarker disease BEFREE Thus, we conclude that HEXIM1 could prevent RV hypertrophy, at least in part, via suppression of myocardial angiogenesis through down-regulation of HIF-1α and VEGF in the myocardium under hypoxic condition. 25301555 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 Biomarker disease BEFREE Thus, Hexim-1 is likely to play a significant role in prostate cancer progression. 22095517 2012
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 Biomarker disease BEFREE Thus, Hexim-1 is likely to play a significant role in prostate cancer progression. 22095517 2012
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		0.020 AlteredExpression disease BEFREE This finding provides the molecular basis for the inhibitory function of HEXIM1 in P-TEFb-dependent transcription, such as human immunodeficiency virus Tat transactivation and NFkappaB-mediated transcription. 17671421 2007
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration 		0.010 AlteredExpression disease BEFREE These studies show that the atypical calpain gene, clp-1, contributes to muscle degeneration and reveal that clp-1 activity is sensitive to genetic manipulation of [Ca(2+)](i). 22479198 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 AlteredExpression phenotype BEFREE These data indicate that the His-1 gene expression is highly restricted and suggest that inappropriate activation of this gene may contribute to carcinogenesis. 9094986 1997
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 Biomarker disease BEFREE The results from this study provide strong evidence of a role for the SphK1/S1P/EDG1 pathway in liver metastasis, thus making it an attractive therapeutic target for the development of new anti-HCC drugs. 22098666 2012
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.010 AlteredExpression disease BEFREE The precise function of the His-1 gene is unknown, but its transcriptional activation in a series of mouse leukemias has implicated the His-1 RNA in leukemogenesis when it is abnormally expressed. 9094986 1997
CUI: C0023418
Disease: leukemia
leukemia 		0.010 Biomarker disease BEFREE The precise function of the His-1 gene is unknown, but its transcriptional activation in a series of mouse leukemias has implicated the His-1 RNA in leukemogenesis when it is abnormally expressed. 9094986 1997
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 Biomarker disease BEFREE The main aim of this study was to evaluate the role of Hexim1 in lipid metabolism focused in the progression of atherosclerosis and steatosis. 28013147 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 Biomarker disease BEFREE The main aim of this study was to evaluate the role of Hexim1 in lipid metabolism focused in the progression of atherosclerosis and steatosis. 28013147 2017