|
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 |
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 |
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 |
Hajdu Cheney syndrome (HCS) is characterized by craniofacial developmental abnormalities, acro-osteolysis, and osteoporosis and is associated with gain-of-NOTCH2 function mutations.
|
31371452 |
2019 |
|
Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
GeneticVariation
|
disease |
BEFREE |
Mice harboring Notch2 mutations replicating Hajdu-Cheney syndrome (Notch2<sup>tm1.1ECan</sup>) have osteopenia and exhibit an increase in splenic marginal zone B cells with a decrease in follicular B cells.
|
29545197 |
2018 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
PEST sequences and regulation by proteolysis.
|
8755249 |
1996 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we identified a novel nonsense mutation in the last exon of the NOTCH2 gene causing Hajdu-Cheney syndrome.
|
29566451 |
2018 |
|
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 |
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 |
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 |
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 |
CLINVAR |
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 |
To understand the role of Notch2 in bone remodeling, we developed a mouse model of HCS by introducing a pathogenic mutation (6272delT) into the murine Notch2 gene.
|
28856714 |
2018 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, to determine the individual contributions of osteoclasts and osteoblasts to HCS osteopenia, we created a conditional-by-inversion (<i>Notch2<sup>COIN</sup></i> ) model in which Cre recombination generates a <i>Notch2</i><sup>Δ<i>PEST</i></sup> allele expressing a Notch2 mutant lacking the PEST domain.
|
28592489 |
2017 |
|
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A detailed phenotype description together with the results of reanalysis of 14 reports so far published on patients with HJCYS and NOTCH2 mutation showed similar phenotype evolution with age.
|
30329210 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Notch2 is a determinant of B-cell allocation in the marginal zone of the spleen and "somatic" mutations analogous to those found in HCS are associated with B-cell lymphomas of the marginal zone, but there are no reports of lymphomas associated with HCS.
|
28941602 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Hajdu-Cheney syndrome (HCS), a disease characterized by osteoporosis and fractures, is associated with gain-of-NOTCH2 function mutations.
|
28323963 |
2017 |
|
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 |