|
Medullary cystic kidney disease 1
|
0.640 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein.
|
29156055 |
2017 |
|
Medullary cystic kidney disease 1
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations.
|
25738250 |
2015 |
|
Medullary cystic kidney disease 1
|
0.640 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations.
|
25738250 |
2015 |
|
Medullary cystic kidney disease 1
|
0.640 |
GermlineCausalMutation
|
disease |
ORPHANET |
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.
|
24509297 |
2014 |
|
Medullary cystic kidney disease 1
|
0.640 |
Biomarker
|
disease |
CTD_human |
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
|
23396133 |
2013 |
|
Medullary cystic kidney disease 1
|
0.640 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
|
23396133 |
2013 |
|
Medullary cystic kidney disease 1
|
0.640 |
Biomarker
|
disease |
BEFREE |
Independent confirmation of the locations of MCKD1 and MCKD2 in other MCKD families, with or without hyperuricemia and gout, has been reported.
|
12832729 |
2003 |
|
Medullary cystic kidney disease 1
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
There is extensive gene locus heterogeneity with at least three different loci for nephronophthisis (NPHP1, NPHP2, and NPHP3) and two different loci for MCKD (MCKD1 and MCKD2).
|
11261687 |
2001 |
|
Medullary cystic kidney disease 1
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
There is extensive genetic heterogeneity with at least three different loci for NPH (NPHP1, NPHP2, and NPHP3) and two different loci for MCKD (MCKD1 and MCKD2).
|
10966501 |
2000 |
|
Medullary cystic kidney disease 1
|
0.640 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Malignant neoplasm of stomach
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Another tumor-specific antigen is MUC1, which is silent on normal tissues, but overexpressed in almost all human epithelial cell cancers, including >90% of human breast, ovarian, pancreatic, colorectal, lung, prostate, and gastric cancers and is a promising tumor antigen with diagnostic as well as the therapeutic potential of cancer.
|
31470531 |
2019 |
|
Multiple Myeloma
|
0.400 |
Biomarker
|
disease |
BEFREE |
We investigated induction of antigen-specific, cytotoxic T-lymphocytes to the well-defined tumor associated antigens (TAAs) hTERT, MUC1, MAGE-C1 and CS1, which have been shown to be expressed in a high proportion of cases of multiple myeloma.
|
31428094 |
2019 |
|
Malignant neoplasm of stomach
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our study confirms the protective effect of MUC1 rs4072037 polymorphism on the risk of GC under the dominant model.
|
28489708 |
2018 |
|
Malignant neoplasm of stomach
|
0.400 |
Biomarker
|
disease |
BEFREE |
The surface marker expression suggested a tumor origin of the cells, and indicated the intestinal phenotype of a GC (CD10<sup>+</sup>, MUC1).
|
29552124 |
2018 |
|
Multiple Myeloma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Moreover, MUC1 is expressed by some haematopoietic cancers, including acute myeloid leukaemia and myeloma.
|
29784646 |
2018 |
|
Multiple Myeloma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
EMM1 cells expressed high levels of MUC1 compared with other myeloma cell lines.
|
30420285 |
2018 |
|
Malignant neoplasm of stomach
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, this meta-analysis suggested that rs4245739 polymorphism in the MUC1 gene may play a pivotal role in the pathogenesis of GC, especially for white populations.
|
28561882 |
2017 |
|
Malignant neoplasm of stomach
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, subtype-specific associations were observed for gastric cardia adenocarcinomas at MUC1/TRIM46/1q22 rs2070803 [HRAA versus GA+GG = 2.16; 95% confidence interval (CI) = 1.24-3.78; P = 0.0068] and LTA/TNF/6p21.33 rs1799724 (HRTT+CT versus CC = 1.30; 95% CI = 1.07-1.57; P = 0.0077), and for diffuse-type GC at PSCA/8q24.3 rs2294008 (HRTT versus CT+CC = 1.99; 95% CI = 1.33-2.97; P = 7.8E-04).
|
29028942 |
2017 |
|
Multiple Myeloma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
These findings, and the demonstration that expression of MUC1 and CD44 significantly correlate in microarrays from primary MM cells, provide support for combining GO-203 with LEN in the treatment of MM and in LEN-resistance.
|
28643330 |
2017 |
|
Multiple Myeloma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The MUC1-C oncoprotein is aberrantly expressed by MM cells, activates MYC and is also necessary for MM cell survival.
|
29050200 |
2017 |
|
Malignant neoplasm of stomach
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Those subjects with both the risk alleles MUC1 rs9841504 and ZBTB20 rs4072037 had a greater than 3-fold increased risk of gastric cancer.
|
27127881 |
2016 |
|
Malignant neoplasm of stomach
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We also confirmed a previously reported association for rs4072037 in MUC1 with p=6.59×10(-8) for total gastric cancer and similar estimates for cardia and non-cardia cancers.
|
26129866 |
2016 |
|
Malignant neoplasm of stomach
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In summary, these results suggest that the MUC1 rs4072037G allele may be a low-penetrating protection factor for GCa risk in Chinese populations.
|
26910281 |
2016 |
|
Multiple Myeloma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
These findings collectively provide convincing evidence that MUC1-C drives MYC expression in MM.
|
26907633 |
2016 |
|
Malignant neoplasm of stomach
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our results confirm an association between gastric cancer in Europeans and three loci previously reported in Asians, MUC1, PRKAA1 and PSCA, refine the association signal at PRKAA1 and support a pathogenic role for the tandem repeat identified in MUC1.
|
26098866 |
2015 |