|
Prader-Willi-like syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Here we show in mice that loss of Magel2, a maternally imprinted gene in the PWS critical region, results in reduced bone mass, density, and strength, corresponding to that observed in humans with PWS, as well as in individuals suffering from Schaaf-Yang syndrome (SYS), a genetic disorder caused by a disruption of the MAGEL2 gene.
|
30347474 |
2019 |
|
Prader-Willi-like syndrome
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Here we show that a Magel2 null mouse model and fibroblast cell lines from individuals with SHFYNG exhibit increased expression of mammalian target of rapamycin (mTOR) and decreased autophagy.
|
31685878 |
2019 |
|
Prader-Willi-like syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
We sequenced MAGEL2 in patients suspected Prader-Willi syndrome (PWS) to delineate clinical presentation of SYS.
|
31791363 |
2019 |
|
Prader-Willi-like syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
We conclude that there is neither a clinical nor etiological difference between CHS and SYS, and propose that the two syndromes simply be referred to as MAGEL2-related disorders.
|
31397880 |
2019 |
|
Prader-Willi-like syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We present the first data that identified a pathogenic gene (MAGEL2 c.1996delC) in a fetus with Schaaf-Yang syndrome in the EAS (East Asian) database and overcame this genetic defect by using processed PGD for this couple based on the WES results.
|
31152388 |
2019 |
|
Prader-Willi-like syndrome
|
0.700 |
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 |
|
Prader-Willi-like syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Nonsense and frameshift mutations in the maternally imprinted, paternally expressed gene <i>MAGEL2,</i> located in the Prader-Willi critical region 15q11-15q13, have been reported to cause Schaaf-Yang syndrome (SYS), a genetic disorder that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties and autism spectrum disorder.
|
29496979 |
2018 |
|
Prader-Willi-like syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Schaaf-Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13.
|
30302899 |
2018 |
|
Prader-Willi-like syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.
|
30238631 |
2018 |
|
Prader-Willi-like syndrome
|
0.700 |
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-like syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11-13, have recently been reported to cause Schaaf-Yang syndrome, a Prader-Willi-like disease that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties, and autism spectrum disorder.
|
27195816 |
2017 |
|
Prader-Willi-like syndrome
|
0.700 |
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-like syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in MAGEL2 have been described in Schaaf-Yang syndrome (SHFYNG) and in severe arthrogryposis.
|
28281571 |
2017 |
|
Prader-Willi-like syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
Prader-Willi-like syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
MAGEL2 mutations have been recently reported in affected individuals with features resembling PWS and called Schaaf-Yang syndrome.
|
26365340 |
2015 |
|
Prader-Willi-like syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MAGEL2 mutations have been recently reported in affected individuals with features resembling PWS and called Schaaf-Yang syndrome.
|
26365340 |
2015 |
|
Prader-Willi-like syndrome
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
|
24076603 |
2013 |
|
Prader-Willi-like syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
|
24076603 |
2013 |
|
Prader-Willi-like syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
|
24076603 |
2013 |
|
Prader-Willi-like syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|