|
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 |
Biomarker
|
disease |
MGD |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
These findings highlight the molecular basis of HCS pathogenesis and provide clinical insights into potential targeted therapeutic strategies for skeletal disorders associated with the aberrant FBW7/NOTCH2 pathway as observed in patients with HCS.
|
29149593 |
2017 |
|
Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Individuals with Hajdu-Cheney syndrome (HCS) present with osteoporosis, and HCS is associated with <i>NOTCH2</i> mutations causing deletions of the proline-, glutamic acid-, serine-, and threonine-rich (PEST) domain that are predicted to enhance NOTCH2 stability and cause gain-of-function.
|
28592489 |
2017 |
|
Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
|
21681853 |
2011 |
|
Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
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 |
CTD_human |
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
|
21378989 |
2011 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
|
21378989 |
2011 |
|
Hajdu-Cheney Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
PEST sequences and regulation by proteolysis.
|
8755249 |
1996 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome.
|
27312922 |
2016 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |