Malignant Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
We analyzed the expression of the CIRH1A ribosomal protein in colorectal carcinoma and para-carcinoma samples by bioinformatics analyses of data extracted from The Cancer Genome Atlas and in colorectal cancer cell lines in vitro by qPCR.
|
28350096 |
2017 |
Primary malignant neoplasm
|
0.010 |
AlteredExpression
|
group |
BEFREE |
We analyzed the expression of the CIRH1A ribosomal protein in colorectal carcinoma and para-carcinoma samples by bioinformatics analyses of data extracted from The Cancer Genome Atlas and in colorectal cancer cell lines in vitro by qPCR.
|
28350096 |
2017 |
Colorectal Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
We also transduced the RKO colorectal cancer (CRC) cell line with lentivirus-mediated small interfering RNAs (siRNAs) and studied the impact that this knockdown of CIRH1A expression had on cell growth.
|
28350096 |
2017 |
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
|
0.570 |
Biomarker
|
disease |
BEFREE |
Together with gene mapping studies showing that the NAIC gene is different from those of other familial cholestases, these observations suggest that NAIC is a distinct entity that could be classified as "progressive familial cholangiopathy."
|
11045837 |
2000 |
Cholestasis
|
0.020 |
Biomarker
|
disease |
BEFREE |
Together with gene mapping studies showing that the NAIC gene is different from those of other familial cholestases, these observations suggest that NAIC is a distinct entity that could be classified as "progressive familial cholangiopathy."
|
11045837 |
2000 |
Familial (FPAH)
|
0.010 |
Biomarker
|
disease |
BEFREE |
Together with gene mapping studies showing that the NAIC gene is different from those of other familial cholestases, these observations suggest that NAIC is a distinct entity that could be classified as "progressive familial cholangiopathy."
|
11045837 |
2000 |
Cholestasis
|
0.020 |
Biomarker
|
disease |
BEFREE |
North American Indian childhood cirrhosis (NAIC, or CIRH1A) is an isolated nonsyndromic form of familial cholestasis reported in Ojibway-Cree children and young adults in northwestern Quebec.
|
10820129 |
2000 |
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
|
0.570 |
Biomarker
|
disease |
BEFREE |
Furthermore, these results allow us to propose that NAIC may be caused by dysfunctional pre-ribosome assembly due to the loss of an interaction between the C-terminus of Utp4/Cirhin and another SSU processome protein.
|
20385600 |
2010 |
Intrahepatic Cholestasis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Cirhin (NP_116219), the product of the CIRH1A gene is mutated in North American Indian childhood cirrhosis (NAIC/CIRH1A, OMIM 604901), a severe autosomal recessive intrahepatic cholestasis.
|
16225863 |
2005 |
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
Cirhin (NP_116219), the product of the CIRH1A gene is mutated in North American Indian childhood cirrhosis (NAIC/CIRH1A, OMIM 604901), a severe autosomal recessive intrahepatic cholestasis.
|
16225863 |
2005 |
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
All NAIC patients are homozygous for a missense mutation (R565W) in CIRH1A, the human homolog of the yeast nucleolar protein Utp4.
|
24147052 |
2013 |
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
A CLDN1 mutation was recently reported in patients with ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis (ILVASC), and North American Indian childhood cirrhosis (NAIC) is associated with a missense mutation in CIRH1A.
|
15768832 |
2004 |
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A CLDN1 mutation was recently reported in patients with ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis (ILVASC), and North American Indian childhood cirrhosis (NAIC) is associated with a missense mutation in CIRH1A.
|
15768832 |
2004 |
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
North American Indian childhood cirrhosis (CIRH1A, or NAIC), a severe autosomal recessive intrahepatic cholestasis described in Ojibway-Cree children from northwestern Quebec, is one of several familial cholestases with unknown molecular etiology.
|
12417987 |
2002 |
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
|
0.570 |
GermlineCausalMutation
|
disease |
ORPHANET |
North American Indian childhood cirrhosis (CIRH1A, or NAIC), a severe autosomal recessive intrahepatic cholestasis described in Ojibway-Cree children from northwestern Quebec, is one of several familial cholestases with unknown molecular etiology.
|
12417987 |
2002 |
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
North American Indian childhood cirrhosis (NAIC, or CIRH1A) is an isolated nonsyndromic form of familial cholestasis reported in Ojibway-Cree children and young adults in northwestern Quebec.
|
10820129 |
2000 |
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
|
0.570 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|