|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Chemical Strike against a Dominant-Inherited MUC1-Frameshifted Protein Associated with Progressive Kidney Disease.
|
31521560 |
2019 |
|
Kidney Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
We identify a common alternative splice variant in MUC1 (a gene responsible for rare Mendelian form of kidney disease) and observe increased renal expression of a specific MUC1 mRNA isoform as a plausible molecular mechanism of the GWAS association signal.
|
30467309 |
2018 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autosomal Tubulointerstitial Kidney Disease-MUC1 Type: Differential Proteomics Suggests that Mutated MUC1 (insC) Affects Vesicular Transport in Renal Epithelial Cells.
|
29436780 |
2018 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Although the pathophysiology of mucin 1 kidney disease is still under investigation, genetic testing has been developed to detect the most well-known mutation, a single cytosine insertion into a string of 7 cytosines in the variable-number tandem repeat (VNTR) region of the MUC-1 gene.
|
29217307 |
2018 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
SMRT sequencing could provide a powerful tool to uncover potential factors encoded within the VNTR that associate with intra- and interfamilial phenotype variability of MUC1 related kidney disease.
|
29520014 |
2018 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
A frameshift mutation in MUC1 was recently identified as the genetic lesion causing medullary cystic kidney disease type 1, now appropriately renamed MUC1 Kidney Disease.
|
28622163 |
2017 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
All patients with MUC1-associated kidney disease shared a rather unspecific tubule-interstitial laboratory pattern without medullary cysts, leading to ESRD between the age of 33 and 47 years.
|
26943180 |
2016 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Validation results indicate an accurate and reliable test for clinically establishing the molecular diagnosis of mucin-1 kidney disease with 100% sensitivity and specificity across 275 tests called.
|
27157321 |
2016 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant, tubulo-interstitial nephropathy that causes renal salt wasting and end-stage renal failure in the fourth to seventh decade of life.MCKD1 was localized to chromosome 1q21.
|
16738948 |
2006 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Medullary cystic kidney disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) are autosomal dominant renal disorders characterized by tubulo-interstitial fibrosis, hyperuricemia and medullary cysts.
|
17010121 |
2006 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Autosomal dominant medullary cystic kidney disease type 1 (MCKD1; Mendelian Inheritance in Man 174000) is a hereditary tubulointerstitial renal disease.
|
15384011 |
2004 |
|
Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Autosomal-dominant medullary cystic kidney disease (ADMCKD), a hereditary chronic interstitial nephropathy, recently attracted attention because of the cloning or mapping of certain gene loci, namely NPHP1, NPHP2 and NPHP3 for familial juvenile nephronophthisis (NPH) and MCKD1 and MCKD2 for the adult form of medullary cystic kidney disease.
|
12234310 |
2002 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial juvenile nephronophthisis, FJN) or by adult onset dominant inheritance (medullary cystic disease, MCD) and share similar clinico-pathological presentation to the extent that they are usually grouped together under the term FJN/MCD complex.
|
9536096 |
1998 |
|
Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autosomal dominant medullary cystic kidney disease (ADMCKD; synonym: medullary cystic disease, MCD) is an autosomal dominant kidney disorder, sharing morphological and clinical features with recessive juvenile nephronophthisis (NPH), such as reduced urinary concentration ability and multiple renal cysts at the corticomedullary junction.
|
9719147 |
1998 |