|
Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
|
21378989 |
2011 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We generated a mouse model reproducing the HCS mutation (Notch2HCS), and heterozygous global mutant mice displayed gain-of-Notch2 function.
|
29037852 |
2018 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, HCS is a devastating disease associated with a gain-of-NOTCH2 function resulting in diverse clinical manifestations.
|
27241678 |
2016 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To elucidate the clinical consequences of NOTCH2 mutations, we present detailed clinical information for seven patients with truncating mutations in exon 34 of NOTCH2, six with HCS and one with SFPKS.
|
23401378 |
2013 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, heterozygous mutations in NOTCH2 were identified as the cause of HCS.
|
23389697 |
2013 |
|
Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Conditional ablation of the Notch2 receptor in the ocular lens.
|
22173065 |
2012 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in NOTCH2 cause Hajdu-Cheney syndrome, which is characterized by skeletal defects and fractures, and JAG1 polymorphisms, are associated with variations in bone mineral density.
|
22002679 |
2012 |
|
Hajdu-Cheney Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.
|
21378985 |
2011 |
|
Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.
|
21378985 |
2011 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.
|
21378985 |
2011 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hajdu-Cheney syndrome (HJCYS) is a rare, multisystem bone disease caused by heterozygous mutations in the NOTCH2 gene.
|
28938420 |
2017 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We created a mouse model reproducing the Hajdu Cheney syndrome by introducing a 6955C→T mutation in the Notch2 locus leading to a Q2319X change at the amino acid level.
|
26627824 |
2016 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hajdu Cheney Syndrome (HCS) is a rare genetic disorder affecting the skeleton and associated with NOTCH2 mutations that lead to NOTCH2 gain-of-function.
|
29940267 |
2018 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
|
21681853 |
2011 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Stabilizing mutations of Notch2 cause Hajdu-Cheney syndrome, which is characterized by early-onset osteoporosis in humans, but the mechanism whereby Notch inhibits bone accretion is not fully understood.
|
30284985 |
2018 |
|
Hajdu-Cheney Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.
|
27312922 |
2016 |