Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Hajdu-Cheney Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
PEST sequences and regulation by proteolysis.
|
8755249 |
1996 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
|
21681853 |
2011 |
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings demonstrate that SFPKS and HCS are both conditions caused by NOTCH2 mutations.
|
21793104 |
2011 |
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
|
21378989 |
2011 |
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 |
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 |
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 |
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
|
21681853 |
2011 |
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NOTCH2 have also recently been connected to Hajdu-Cheney syndrome, a dominant disorder causing focal bone destruction, osteoporosis, craniofacial morphology and renal cysts.
|
22306179 |
2012 |
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 |
GeneticVariation
|
disease |
BEFREE |
Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome.
|
23117206 |
2013 |
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
There may be a relationship between HCS and DM, with development of pancreatic symptoms related to the NOTCH2 gene mutation.
|
24265536 |
2013 |
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 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, Notch regulates skeletal development and bone remodeling, and gain-of-function mutations of NOTCH2 are associated with HCS.
|
25491639 |
2014 |
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The truncated NOTCH3 may cause gain-of-function through decreased clearance of the active intracellular product, resembling NOTCH2 mutations in the clinically related Hajdu-Cheney syndrome and contrasting the NOTCH3 missense mutations causing CADASIL.
|
25394726 |
2015 |
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 |
GeneticVariation
|
disease |
BEFREE |
We report a subject presenting with HCS and her child, both harboring a new heterozygous mutation in Exon 34 of NOTCH2 upstream of the PEST domain.
|
27592446 |
2016 |
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 |