|
Nephroblastoma
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
The most common known molecular defect in Wilms tumor (WT) of the kidney, the most frequent solid tumor of childhood, is loss of imprinting (LOI) of the insulin-like growth factor-II gene (IGF2), which involves activation of the normally silent maternal allele of the gene and hypermethylation of a differentially methylated region upstream of the H19 gene.
|
15761865 |
2005 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19.
|
12439823 |
2003 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
BWS is genetically heterogeneous and epigenetic changes in the IGF2/H19 genes resulting in overexpression of IGF2 have been implicated in many cases.
|
10424811 |
1999 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In this study of 125 BWS cases, we confirm the association of tumors with constitutional defects in the 11p15 telomeric domain; six of 21 BWS cases with uniparental disomy (UPD) of 11p15 developed tumors and one of three of the rare BWS subtype with hypermethylation of the H19 gene developed tumors.
|
11751681 |
2001 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Dysregulation of 11p15 genomic imprinting results in two human fetal growth disorders (Silver-Russell syndrome (SRS, MIM 180860) and Beckwith-Wiedemann syndrome (BWS, MIM 130650)) with opposite growth phenotypes.
|
23240093 |
2013 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that sporadic BWS is not associated with a general alteration of methylation imprinting of the IGF2 and H19 genes.
|
7987305 |
1994 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.
|
11813134 |
2002 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This study of a large maternal deletion encompassing the H19 gene and complete ICR1 is the first to demonstrate transcriptional consequences on IGF2 in addition to methylation effects resulting in severe overgrowth and occurrence of multiple tumors in a BWS patient.
|
27650505 |
2017 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we performed a review and meta-analysis of reported associations between the imprinting status of the LIT1 and H19 genes and the risk for tumor development in BWS.
|
15887271 |
2005 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hypermethylation of this DMR--and subsequently of the H19 promoter region--is a major cause of the clinical features of gigantism and/or asymmetry seen in Beckwith-Wiedemann syndrome or in isolated hemihypertrophy.
|
16532391 |
2006 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Previously we reported on such a comparison in the central part of the mouse imprinting cluster on distal chromosome 7 with the homologous Beckwith-Wiedemann syndrome (BWS) gene cluster on human chromosome 11p15.5.
|
11063728 |
2000 |
|
Russell-Silver syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hypomethylation of the differentially methylated region (DMR) of the H19 gene and uniparental disomy of maternal chromosome 7 is present in ∼45% of the patients with SRS so more than half of these patients have no known genetic etiology.
|
20830799 |
2010 |
|
Russell-Silver syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In 35-60% of SRS cases the paternally methylated imprinting control region (ICR) upstream of the H19 gene (H19-ICR) is hypomethylated, leading to downregulation of IGF2 and bi-allelic expression of H19.
|
21278389 |
2011 |
|
Russell-Silver syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In addition, we show that complete hypomethylation of the H19 promoter is found in two of three patients with the full clinical spectrum of Silver-Russell syndrome.
|
16532391 |
2006 |
|
Russell-Silver syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Half of all patients with RSS have hypomethylation of the differentially methylated region of the H19 gene on chromosome 11p15.5.
|
19814617 |
2009 |
|
Russell-Silver syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We assessed a detailed investigation of the methylation status of the 11p15 ICR1 CBS1-7, IGF2DMR0 and H19DMR (H19 promoter) in a population of controls (n=50) and RSS carrying (n=104) or not (n=65) carrying a hypomethylation at the 11p15 ICR1 region.
|
25395389 |
2015 |
|
Breast Carcinoma
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
SNPs in the mitochondrial ribosomal protein S30 gene (MRPS30), mitogen-activated protein kinase kinase kinase 1 gene (MAP3K1), zinc finger, MIZ-type containing 1 gene (ZMIZ1), and H19, imprinted maternally expressed transcript gene (H19) were associated with breast cancer in whites, and SNPs in the estrogen receptor 1 gene (ESR1) and H19 gene were associated with breast cancer in African Americans.
|
24218030 |
2014 |
|
Breast Carcinoma
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Association of the study between LncRNA-H19 gene polymorphisms with the risk of breast cancer.
|
30485527 |
2019 |
|
Breast Carcinoma
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Among 11 Breast Cancer Association Consortium risk single-nucleotide polymorphisms, we found that the genotype-associated breast cancer risk varied significantly by radiation dose for rs2107425 in the H19 gene (P(interaction) = 0.001).
|
18708391 |
2008 |
|
Breast Carcinoma
|
0.480 |
GeneticVariation
|
disease |
GWASCAT |
Association analysis identifies 65 new breast cancer risk loci.
|
29059683 |
2017 |
|
Breast Carcinoma
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
In a previous work, we have isolated the human H19 gene and shown accumulation of transcripts in various human tumors including breast carcinomas (Douc-Rasy et al (1993) Int J Oncol 2, 753-758).
|
8785513 |
1995 |
|
Congenital hemihypertrophy
|
0.410 |
GeneticVariation
|
disease |
BEFREE |
Regarding the clinical presentation, borderline SRS were representative of the syndromic phenotype, with exception of one patient, whereas BWS cases showed low frequency of the most common features except hemihyperplasia.
|
26933465 |
2016 |
|
Malignant neoplasm of breast
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
Among 11 Breast Cancer Association Consortium risk single-nucleotide polymorphisms, we found that the genotype-associated breast cancer risk varied significantly by radiation dose for rs2107425 in the H19 gene (P(interaction) = 0.001).
|
18708391 |
2008 |
|
Malignant neoplasm of breast
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
Association of the study between LncRNA-H19 gene polymorphisms with the risk of breast cancer.
|
30485527 |
2019 |
|
Malignant neoplasm of breast
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
SNPs in the mitochondrial ribosomal protein S30 gene (MRPS30), mitogen-activated protein kinase kinase kinase 1 gene (MAP3K1), zinc finger, MIZ-type containing 1 gene (ZMIZ1), and H19, imprinted maternally expressed transcript gene (H19) were associated with breast cancer in whites, and SNPs in the estrogen receptor 1 gene (ESR1) and H19 gene were associated with breast cancer in African Americans.
|
24218030 |
2014 |