|
Prader-Willi Syndrome
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Prader-Willi Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Moreover, MAGEL2 / Magel2 are expressed only from the paternal allele in brain, suggesting a potential role in the aetiology of PWS and its mouse model, respectively.
|
10556298 |
1999 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Five imprinted, paternally expressed genes map to the PWS region, MKRN3 (ref.3), NDN (ref.4), NDNL1 (ref.5), SNRPN (refs 6-8 ) and IPW (ref.
|
10802660 |
2000 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
We hypothesize that, although loss of necdin expression may be important in the neonatal presentation of PWS, loss of MAGEL2 may be critical to abnormalities in brain development and dysmorphic features in individuals with PWS.
|
10915770 |
2000 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
NDNL2/MAGE-G is a member of a large gene family that includes the X-linked MAGE cluster, MAGED1 (NRAGE), MAGEL2 and NDN, where the latter two genes are implicated in Prader-Willi syndrome.
|
11782285 |
2001 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Four protein-encoding genes (MKRN3, MAGEL2, NDN and SNURF-SNRPN) and several small nucleolar (sno) RNA genes (HBII-13, HBII-436, HBII-85, HBII-438A, HBII-438B and HBII-52) are expressed from the paternal chromosome only but their contribution to PWS is unclear.
|
15565282 |
2005 |
|
Prader-Willi Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We further suggest that loss of necdin contributes to the neurological phenotype of PWS, and raise the possibility that co-deletion of necdin and the related protein Magel2 may explain the lack of single gene mutations in PWS.
|
15649943 |
2005 |
|
Prader-Willi Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of Prader-Willi Syndrome gene MAGEL2 in severe childhood-onset obesity.
|
16286533 |
2005 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
We conclude that a deficiency of MKRN3, MAGEL2 and NDN is not sufficient to cause PWS.
|
19066619 |
2009 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
MGD |
Our results suggest that loss of MAGEL2 contributes to the reproductive deficits seen in people with PWS, and further highlights the role of normal circadian rhythm in the maintenance of fertility.
|
19172181 |
2009 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
These findings suggest that MAGEL2 is a new gene causing complex ASD and that MAGEL2 loss of function can contribute to several aspects of the PWS phenotype.
|
24076603 |
2013 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
CTD_human |
These findings suggest that MAGEL2 is a new gene causing complex ASD and that MAGEL2 loss of function can contribute to several aspects of the PWS phenotype.
|
24076603 |
2013 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
De novo inactivating mutations in one PWS candidate gene, MAGEL2, have been identified in children with features of PWS.
|
25926624 |
2015 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Here, we show that paternal MAGEL2 mutations are also responsible for lethal AMC, recapitulating the clinical spectrum of PWS and suggesting that MAGEL2 is a PWS-determining gene.
|
26365340 |
2015 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Gene-targeted mice lacking Magel2 have excess fat and decreased muscle, recapitulating altered body composition in Prader-Willi syndrome.
|
27436578 |
2016 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
MGD |
Gene-targeted mice lacking Magel2 have excess fat and decreased muscle, recapitulating altered body composition in Prader-Willi syndrome.
|
27436578 |
2016 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
In the present study, we investigated whether OEA contributes to feeding dysregulation in Magel2<sup>m+/p-</sup> (Magel2 KO) mice, an animal model of PWS.
|
28007570 |
2017 |
|
Prader-Willi Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Truncating pathogenic variants of MAGEL2 cause Schaaf-Yang syndrome (SHFYNG) (OMIM #615547), a neurodevelopmental disorder related to PWS.
|
28296079 |
2017 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
This review provides an overview of the MAGE protein family of ubiquitin ligases regulators and details the molecular and cellular role of MAGEL2 in ubiquitination, actin regulation and endosomal sorting processes, as well as MAGEL2 implications in PWS and SHFYNG disorders.
|
28626083 |
2017 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways.
|
28973533 |
2017 |
|
Prader-Willi Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
MAGEL2 is the paternally expressed gene within Prader-Willi syndrome critical region at 15q11.2.
|
29359444 |
2018 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
We tested whether chronic diazoxide administration can reduce fat mass and improve metabolism in mice lacking MAGEL2, a gene inactivated in PWS.
|
29506955 |
2018 |
|
Prader-Willi Syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2.
|
29588991 |
2018 |
|
Prader-Willi Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic underpinning of PWS involves deletion of a chromosomal region with several genes, including MAGEL2, which is abundantly expressed in the hypothalamus.
|
29878108 |
2018 |
|
Prader-Willi Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Truncating variants of the MAGEL2 gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)-a neurodevelopmental disorder that shares several clinical features with PWS.
|
30343463 |
2018 |