Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
In summary, this work unveils a SETBP1 function that directly affects gene transcription and clarifies the mechanism operating in myeloid malignancies and in the Schinzel-Giedion syndrome caused by SETBP1 mutations.
|
29875417 |
2018 |
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Substitutions in SETBP1 residue I871 result in a weak increase in protein levels and mutations affecting this residue are significantly more frequent in SGS than in leukemia.
|
28346496 |
2017 |
Schinzel-Giedion syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
|
28346496 |
2017 |
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
It was recently revealed that Schinzel-Giedion syndrome is caused by de novo mutations in SETBP1, but there are few reports of this syndrome with molecular confirmation.
|
25663181 |
2015 |
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Herein, we present a Japanese boy with Schinzel-Giedion syndrome resulting from a novel mutation in SETBP1 in order to establish the clinical features and serial MRI findings associated with the syndrome.
|
26096993 |
2015 |
Schinzel-Giedion syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
West syndrome in a patient with Schinzel-Giedion syndrome.
|
25028416 |
2015 |
Schinzel-Giedion syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.
|
25852444 |
2015 |
Schinzel-Giedion syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
|
25663181 |
2015 |
Schinzel-Giedion syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.
|
23222956 |
2013 |
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Closely positioned somatic SETBP1 mutations encoding changes in Asp868, Ser869, Gly870, Ile871 and Asp880, which match germline mutations in Schinzel-Giedion syndrome (SGS), were detected in 17% of secondary acute myeloid leukemias (sAML) and 15% of chronic myelomonocytic leukemia (CMML) cases.
|
23832012 |
2013 |
Schinzel-Giedion syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
Closely positioned somatic SETBP1 mutations encoding changes in Asp868, Ser869, Gly870, Ile871 and Asp880, which match germline mutations in Schinzel-Giedion syndrome (SGS), were detected in 17% of secondary acute myeloid leukemias (sAML) and 15% of chronic myelomonocytic leukemia (CMML) cases.
|
23832012 |
2013 |
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
These findings support the hypothesis that mutations in SETBP1 causing SGS may have a gain-of-function or a dominant-negative effect, whereas haploinsufficiency or loss-of-function mutations in SETBP1 cause a milder phenotype.
|
21037274 |
2011 |
Schinzel-Giedion syndrome
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.
|
21371013 |
2011 |
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
|
20436468 |
2010 |
Schinzel-Giedion syndrome
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
|
20436468 |
2010 |
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
|
20436468 |
2010 |
Schinzel-Giedion syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
|
20436468 |
2010 |
Schinzel-Giedion syndrome
|
0.770 |
GermlineCausalMutation
|
disease |
ORPHANET |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
|
20436468 |
2010 |
Schinzel-Giedion syndrome
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|