|
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The subtelomeric region of 11p harbours three closely linked genes, TH, INS and IGF2, that have been associated with obesity, size at birth, type I diabetes, polycystic ovary syndrome, overgrowth in Beckwith-Wiedemann syndrome and possibly hypertension.
|
11935324 |
2002 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
In these patients, in addition to the effects of IGF2 overexpression, a decreased level of the maternally expressed gene CDKN1C may contribute to the BWS phenotype.
|
21248736 |
2011 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
This study shows that paternal IGF2/H19 domain triplication results in BWS, gives additional support to the hypothesis that the maternal amplification of IGF2/H19 domain may lead to the manifestation of SRS and underlines difficulties of genetic counseling in patients with CNVs involving the 11p15.5 region.
|
27612309 |
2017 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Regional regulations of parental imprinting in the IGF2-H19 domain of imprinted genes was studied in the Beckwith-Wiedemann syndrome (BWS).
|
8634713 |
1995 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To understand how the same disease can result from misregulation of two linked, but unrelated, genes, we generated a mouse model for BWS that both harbors a null mutation in p57(Kip2) and displays loss of Igf2 imprinting.
|
10601037 |
1999 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
We previously mapped BWS, by genetic linkage analysis, to 11p15.5, which we and others also found to contain several imprinted genes; these include the gene for insulin-like growth factor II (IGF2) and H19, which show abnormal imprint-specific expression and/or methylation in 20% of BWS patients, and p57KIP2, a cyclin-dependent kinase inhibitor, which we found showed biallelic expression in one of nine BWS patients studied.
|
9311734 |
1997 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
DNA methylation defects involving the ICR1 H19/IGF2 domain result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 gain of methylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases).
|
20007505 |
2010 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Five germline balanced chromosomal rearrangement breakpoints from patients with Beckwith-Wiedemann syndrome (BWS) have been mapped to 11p15.5 between p57KIP2 and IGF2, and all are derived from the maternal chromosome.
|
8923002 |
1996 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Because loss of heterozygosity at the 11p15 locus has been described in childhood tumors, particularly, in adrenocortical tumors, associated with the Beckwith-Wiedemann syndrome and because insulin-like growth factor-II (IGF-II) is a crucial regulator of fetal adrenal growth, we looked for structural analysis at the 11p15 locus and IGF-II gene expression in 23 sporadic adrenocortical adult tumors: 6 carcinomas (5 with Cushing's syndrome and 1 nonsecreting) and 17 benign adenomas (13 with Cushing's syndrome, 1 pure androgen secreting, and 3 nonsecreting).
|
7911125 |
1994 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
This second generation tall stature and third generation BWS correlated with increased methylation of the maternal H19/IGF2-locus.
|
23572028 |
2013 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Gain of methylation at imprinting control region 1 (ICR1-GOM), leading to the biallelic expression of IGF2 and silencing of H19, is one of the causative alterations in BWS.
|
31235774 |
2019 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
These phenotypes establish Igf2 overexpression as a key determinant of Beckwith-Wiedemann syndrome.
|
9349812 |
1997 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Analysis of H19 methylation is useful for the diagnosis of both UPD or altered imprinting in BWS and shows that a variety of molecular mechanisms may cause relaxation of IGF2 imprinting in BWS.
|
9152830 |
1997 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Relaxation of IGF2 imprinting occurs in the Beckwith-Wiedemann syndrome of somatic overgrowth, sporadic Wilms' tumour and a number of other cancers.
|
9722981 |
1998 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
The accumulated data on normal and pathologic IGF2 expression are now sufficient to define an entity, "IGF2 overgrowth disorder," of which BWS may be one extreme manifestation.
|
8612230 |
1996 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Therefore, we propose that loss of CTCF-dependent imprinting of tumor-promoting genes, such as IGF2 and TERT, results from a defective TGF-β pathway and is responsible at least in part for BWS-associated tumorigenesis as well as sporadic human cancers that are frequently associated with SPTBN1 and SMAD3 mutations.
|
26784546 |
2016 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
We describe a family with overgrowth in three generations and Wilms' tumor in two generations, with paternal inheritance of a cis-duplication at 11p15.5 spanning the BWS IC1 region and including H19, IGFII, INS, and TH.
|
17325026 |
2007 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Loss of imprinting (LOI) of insulin-like growth factor-2 (IGF-2) has been implicated in the pathogenesis of certain human cancers and tumor-predisposing overgrowth disorders, such as Beckwith-Wiedemann syndrome.
|
10820361 |
2000 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Such increased IGF-II expression would appear to explain the overgrowth in Beckwith-Wiedemann syndrome.
|
10102049 |
1999 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Since BWS has been associated with biallelic expression of insulin-like growth factor II (IGF-II), it has been proposed that GPC3 is a negative regulator of IGF-II.
|
10402475 |
1999 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Surprisingly, LOI of LIT1 was not linked to LOI of insulin-like growth factor II (IGF2), which was found in 2 of 10 (20%) BWS patients, even though LOI of IGF2 occurs frequently in Wilms and other tumors, and in some patients with BWS.
|
10220444 |
1999 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
We have examined the allele-specific expression of IGF2 and H19 in fibroblasts derived from patients with sporadic Beckwith-Wiedemann syndrome (BWS), a fetal overgrowth syndrome associated with an imprinted locus on 11p15.5.
|
9285792 |
1997 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
IGF-II expression is activated in several types of human neoplasms and an alteration of IGF-II imprinting has been described in Beckwith-Wiedemann syndrome and Wilms' tumor.
|
7981680 |
1994 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A female child with features fitting in with the BWS diagnostic framework and an apparent loss of imprinting (LOI) of the IGF2 gene in 11p15.5 was also reported to have a de novo chromosome 18q segmental deletion (Patient 1), thus pointing at the location of a possible trans-activating regulator element for maintenance of IGF2 imprinting and providing one of the few examples of locus heterogeneity of BWS.
|
17994567 |
2007 |
|
Beckwith-Wiedemann Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
It was the aim of this study to examine the IGF-II locus and its surrounding chromosomal environment for such lesions in a large number of WBS patients.
|
1356784 |
1992 |