PKNOX1, PBX/knotted 1 homeobox 1, 5316

N. diseases: 34; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0027902
Disease: Neuropsychological Tests
Neuropsychological Tests 		0.100 GeneticVariation phenotype GWASCAT Common genetic variation and performance on standardized cognitive tests. 20125193 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE The synthesis of middle-to-late-replicating DNA can be affected independently of the rest of the genome by down-regulating the tumor suppressor PREP1 (PKNOX1). 29453404 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE Prep1 is essential for embryogenesis, but in the adult it also acts as a tumor suppressor. 30604851 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE Previously we have shown that Prep1 is a haploinsufficient tumor suppressor that inhibits neoplastic transformation by competing with myeloid ecotropic integration site 1 for binding to the common heterodimeric partner Pbx1. 25157139 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 AlteredExpression group BEFREE Homeodomain transcription factor and tumor suppressor Prep1 is required to maintain genomic stability. 21715654 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 AlteredExpression group BEFREE Immunohistochemistry on tissue micrroarrays (TMA) generated from three distinct human cohorts comprising a total of some 1000 human tumors revealed that 70% of the tumors express no or extremely low levels of Prep1, unlike normal tissues. 20106730 2010
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		0.020 AlteredExpression disease BEFREE Pre-B-cell leukemia transcription factor regulating protein 1 (Prep1) is a homeodomain transcription factor that plays a primary role in organogenesis and metabolism. 31618597 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 AlteredExpression disease BEFREE These data implicate the upregulated hepatic expression of Pknox1 in T2DM complicated with NAFLD may be caused by the reduced expression of miR-17 family, indicating that developing miRNA-mediated regulation strategies on Pknox1 may provide new therapeutic options for metabolic disease. 30338914 2018
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.020 Biomarker group BEFREE In this review we have underlined how important metabolic functions are controlled by TALE proteins, in particular by Prep1, leading to hypothesis that its suppression might represent beneficial effect in the care of metabolic diseases. 30002646 2018
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.020 Biomarker group BEFREE These data implicate the upregulated hepatic expression of Pknox1 in T2DM complicated with NAFLD may be caused by the reduced expression of miR-17 family, indicating that developing miRNA-mediated regulation strategies on Pknox1 may provide new therapeutic options for metabolic disease. 30338914 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 Biomarker disease BEFREE All these findings suggest that disruption of the Prep1/p160 molecular interaction enhances insulin sensitivity impaired by ceramides in skeletal muscle cells and indicate this complex as an important target for type 2 diabetes. 29069751 2017
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		0.020 Biomarker disease BEFREE Pre-B-cell leukemia homeobox (Pbx)-regulating protein-1 (Prep1) is a ubiquitous homeoprotein involved in early development, genomic stability, insulin sensitivity, and hematopoiesis. 25157139 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE These findings point to a novel role of the PREP1 homeoprotein in the control of the TGF-β pathway, EMT, and metastasis in NSCLC. 25157139 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE Pre-B-cell leukemia transcription factor (PBX)/three-amino-acid loop extension (TALE) class transcription factors [PBX1-4, Meis homeobox (Meis) 1-3, pbx/knotted 1 homeobox (Prep) 1, 2] are involved in tumorigenesis and metastasis. 21703237 2011
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 Biomarker disease BEFREE Our results provide a rationale for the involvement of PREP1 in the apoptotic phenotype of DS tissues and indicate that differences in Prep1 level can have drastic effects. 20110257 2010
CUI: C0206664
Disease: Teratocarcinoma
Teratocarcinoma 		0.020 Biomarker disease BEFREE By using fibroblasts from DS patients and by overexpressing Prep1 in F9 teratocarcinoma and Prep1(i/i) MEF to single out the role of the protein, we report that excess Prep1 increases the sensitivity of cells to genotoxic stress and the extent of the apoptosis directly correlates with the level of Prep1. 20110257 2010
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 Biomarker disease BEFREE Our results provide a rationale for the involvement of PREP1 in the apoptotic phenotype of DS tissues and indicate that differences in Prep1 level can have drastic effects. 20110257 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 AlteredExpression disease LHGDN Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance. 12771203 2003
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 AlteredExpression disease BEFREE Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance. 12771203 2003
CUI: C0206664
Disease: Teratocarcinoma
Teratocarcinoma 		0.020 Biomarker disease LHGDN F9 teratocarcinoma cells stably transfected with PREP-1 had an increased DNA binding activity to a PREP-PBX-responsive element. 12871956 2003
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.020 AlteredExpression disease BEFREE Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance. 12771203 2003
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 Biomarker disease BEFREE Progression of retinitis pigmentosa on multimodal imaging: The PREP-1 study. 30552737 2019
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 AlteredExpression disease BEFREE MiR-17 family-mediated regulation of Pknox1 influences hepatic steatosis and insulin signaling. 30338914 2018
CUI: C0276138
Disease: Viral myocarditis
Viral myocarditis 		0.010 Biomarker disease BEFREE MiR-223/Pknox1 axis protects mice from CVB3-induced viral myocarditis by modulating macrophage polarization. 29524390 2018