CRBN, cereblon, 51185

N. diseases: 130; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029453
Disease: Osteopenia
Osteopenia
0.010 Biomarker disease BEFREE What's more, CRBN ablation suppressed osteoclast differentiation and rescued diabetic bone loss in vivo, accompanied with decreased receptor activator of NF-kB ligand (RANKL), RANKL/osteoprotegerin (OPG), and tartrate-resistant acid phosphatase (TRAP) levels, as well as improved AMP-activated kinase (AMPK) α/acetyl-CoA carboxylase (ACC)αactivation. 29353038 2018
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.030 Biomarker group BEFREE We use the <i>Crbn</i><sup>I391V</sup> model to demonstrate that the in vivo therapeutic activity of lenalidomide in del(5q) myelodysplastic syndrome can be explained by heterozygous expression of Ck1α in del(5q) cells. 30064974 2018
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
0.020 Biomarker disease BEFREE We use the <i>Crbn</i><sup>I391V</sup> model to demonstrate that the in vivo therapeutic activity of lenalidomide in del(5q) myelodysplastic syndrome can be explained by heterozygous expression of Ck1α in del(5q) cells. 30064974 2018
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.020 Biomarker disease BEFREE We use the <i>Crbn</i><sup>I391V</sup> model to demonstrate that the in vivo therapeutic activity of lenalidomide in del(5q) myelodysplastic syndrome can be explained by heterozygous expression of Ck1α in del(5q) cells. 30064974 2018
CUI: C4706503
Disease: Distal monosomy 3p syndrome
Distal monosomy 3p syndrome
0.010 Biomarker disease BEFREE We suggest that 3p- syndrome associated features are primarily caused by loss of CNTN4 and CRBN, with loss of CHL1 probably having an additional detrimental effect on the cognitive functioning of the present patient. 17036314 2006
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE We herein report our new generation of multifunctional HDAC6 degraders by tethering selective HDAC6 inhibitor Nexturastat A with CRBN ligand that can synergize with HDAC6 degradation for the antiproliferation of multiple myeloma (MM). 31271281 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE We also demonstrated that treatment with a pan-PIM kinase inhibitor resulted in increased expression of cereblon, and that knockdown of cereblon via a shRNA lentivirus abolished the effects of PIM kinase inhibition on the degradation of IKZF1 and IKZF3 and myeloma cell apoptosis, demonstrating a central role of cereblon in pan-PIM kinase inhibitor-mediated down-regulation of IKZF1 and IKZF3 and myeloma cell killing. 30312729 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE To determine whether the traditional Chinese medicine arsenic trioxide, could potentiate sensitivity of multiple myeloma (MM) cells to lenalidomide and identify the mechanism by which this happens, the present study investigated how arsenic trioxide affected CRBN on MM cell lines and examined the anti-myeloma effect and mechanism in the combination of arsenic trioxide and lenalidomide. 28927072 2017
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE Thus, our data argue against the use of CRBN and its downstream targets as predictive biomarkers of IMiD response in MM and confirm clonal evolution patterns during lenalidomide resistance. 29718735 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 AlteredExpression disease BEFREE This strategy also appeared to be more broadly applicable as SGC-CBP30 could re-sensitize two resistant HMCLs with low but detectable CRBN expression to lenalidomide, suggesting that targeting CBP/E300 is a promising approach to restore IMiD sensitivity in MM with detectable CRBN expression. 30741931 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease CTD_human This dual assay demonstrated superior Cereblon IHC measurement in MM samples compared with the single IHC assay using a published commercial rabbit polyclonal Cereblon antibody and could be used to explore the potential utility of Cereblon as a biomarker in the clinic. 26186254 2017
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 GeneticVariation disease BEFREE These results underline the prognostic significance of the IRF4 and CRBN polymorphisms in patients with MM. 28083618 2016
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 AlteredExpression disease BEFREE These results suggest that, similar to the treatment of MM, high levels of full-length CRBN mRNA in lower risk 5q- patients are necessary for the efficacy of lenalidomide. 25284710 2015
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE These results indicate that the Cereblon-mediated immunomodulatory properties of lenalidomide are maintained in lenalidomide-refractory MM patients and may contribute to immune-mediated killing of MM cells. 30338042 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 AlteredExpression group BEFREE These data demonstrate that enhanced autoubiquitination and degradation account for the defect in CRBN activity that leads to mental retardation. 23983124 2013
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
0.070 AlteredExpression disease BEFREE These data demonstrate that enhanced autoubiquitination and degradation account for the defect in CRBN activity that leads to mental retardation. 23983124 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE Therapeutically, CRBN engagers have the potential for broad applications in cancer and immune therapy by specifically reducing protein expression through targeted ubiquitin-mediated degradation. 29449372 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE Therapeutically, CRBN engagers have the potential for broad applications in cancer and immune therapy by specifically reducing protein expression through targeted ubiquitin-mediated degradation. 29449372 2018
CUI: C0009806
Disease: Constipation
Constipation
0.010 GeneticVariation phenotype BEFREE The presence of CRBN AA (rs6768972) or TT (rs1672753) genotypes was associated with about 333-fold and 250-fold lower risk of constipation in the course of therapy (OR = 0·003; OR = 0·004, respectively). 31115923 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.020 Biomarker disease BEFREE The pharmacology of iberdomide (CC-220), a cereblon (<i>CRBN</i>) modulator targeting Ikaros and Aiolos, was studied in SLE patient cells and in a phase 1 healthy volunteer study. 29945920 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 GeneticVariation group BEFREE The nonsense mutation, R419X, causes deletion of 24 amino acids at the C-terminus of CRBN, leading to mild ID. 26188093 2015
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
0.110 GeneticVariation disease BEFREE The mutation of human cereblon gene (CRBN) is revealed to be related with mild mental retardation. 17380424 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 GeneticVariation group BEFREE The gene coding cereblon (CRBN) was originally identified in genetic linkage analysis of mild autosomal recessive nonsyndromic intellectual disability. 27329811 2016
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 Biomarker disease BEFREE The description of their cereblon-mediated mechanism of action was a hallmark in MM research. 30696815 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.600 AlteredExpression disease BEFREE The data suggest that expression of CRBN protein in MCs assessed using the IHC is a feasible approach to predict the response of IMiDs in MM patients. 24687382 2014