|
Laron syndrome type 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
STAT5B deficiency: Impacts on human growth and immunity.
|
26703237 |
2016 |
|
Laron syndrome type 2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease.
|
22419735 |
2012 |
|
Laron syndrome type 2
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease.
|
22419735 |
2012 |
|
Laron syndrome type 2
|
0.700 |
Biomarker
|
disease |
CTD_human |
Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.
|
17030597 |
2006 |
|
Laron syndrome type 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.
|
16787985 |
2006 |
|
Laron syndrome type 2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.
|
15827093 |
2005 |
|
Laron syndrome type 2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Growth hormone insensitivity associated with a STAT5b mutation.
|
13679528 |
2003 |
|
Laron syndrome type 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Growth hormone insensitivity associated with a STAT5b mutation.
|
13679528 |
2003 |
|
Acute Promyelocytic Leukemia
|
0.570 |
Biomarker
|
disease |
BEFREE |
With RT-PCR and karyotype, Case A is diagnosed with STAT5b-RARα-positive APL.Case B, C are diagnosed with PLZF-RARα-positive APL.
|
31083206 |
2019 |
|
Acute Promyelocytic Leukemia
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
To the best of our knowledge, we report here only the sixth APL patient in the world with the STAT5b-RARα fusion transcript.
|
22749039 |
2012 |
|
Acute Promyelocytic Leukemia
|
0.570 |
FusionGene
|
disease |
ORPHANET |
Clinical characteristics of APL with STAT5B-RARA are also discussed.
|
18221386 |
2008 |
|
Acute Promyelocytic Leukemia
|
0.570 |
Biomarker
|
disease |
BEFREE |
Clinical characteristics of APL with STAT5B-RARA are also discussed.
|
18221386 |
2008 |
|
Acute Promyelocytic Leukemia
|
0.570 |
Biomarker
|
disease |
BEFREE |
Some APL cases also involve rearrangements that fuse RAR to partner genes other than PML, including nucleophosmin (NPM), promyelocytic leukemia zinc finger (PLZF), nuclear mitotic apparatus (NUMA), and Stat5b, but the clinical characteristics of APL without PML-RAR have not been fully clarified.
|
17988991 |
2007 |
|
Acute Promyelocytic Leukemia
|
0.570 |
AlteredExpression
|
disease |
BEFREE |
The RAR alpha gene fuses to variable partners (PML, PLZF, NPM, NuMA and STAT5B: X genes) leading to the expression of APL-specific fusion proteins with identical RAR alpha moieties.
|
16331271 |
2006 |
|
Acute Promyelocytic Leukemia
|
0.570 |
Biomarker
|
disease |
BEFREE |
In addition, STAT5b-RARalpha and other APL fusion proteins may contribute to leukemogenesis by interaction with the STAT3 oncogene pathway.
|
11929748 |
2002 |
|
Acute Promyelocytic Leukemia
|
0.570 |
Biomarker
|
disease |
LHGDN |
In addition, STAT5b-RARalpha and other APL fusion proteins may contribute to leukemogenesis by interaction with the STAT3 oncogene pathway.
|
11929748 |
2002 |
|
Acute Promyelocytic Leukemia
|
0.570 |
Biomarker
|
disease |
BEFREE |
In acute promyelocytic leukemia (APL) cells with rearrangement of retinoic acid receptor a (RAR alpha) (including: PML-RAR alpha, PLZF-RAR alpha, NPM-RAR alpha, NuMA- RAR alpha or STAT5b-RAR alpha) as a result of chromosomal translocations, the RA signal pathway is disrupted and myeloid differentiation is arrested at the promyelocytic stage.
|
11022230 |
2000 |
|
Acute Promyelocytic Leukemia
|
0.570 |
CausalMutation
|
disease |
CGI |
|
|
|
|
T-Cell Large Granular Lymphocyte Leukemia
|
0.530 |
Biomarker
|
disease |
BEFREE |
Here we review past and current research on STAT genes in hematopoietic and solid cancers with emphasis on STAT3 and STAT5B and their roles in the pathogenesis of hematopoietic malignancies, particularly T-LGL leukemia and CLPD-NK.
|
29417693 |
2018 |
|
T-Cell Large Granular Lymphocyte Leukemia
|
0.530 |
Biomarker
|
disease |
CTD_human |
STAT5BN642H is a driver mutation for T cell neoplasia.
|
29200404 |
2018 |
|
T-Cell Large Granular Lymphocyte Leukemia
|
0.530 |
Biomarker
|
disease |
CTD_human |
Genomic landscape of cutaneous T cell lymphoma.
|
26192916 |
2015 |
|
T-Cell Large Granular Lymphocyte Leukemia
|
0.530 |
GeneticVariation
|
disease |
BEFREE |
Uncovering the pathogenesis of large granular lymphocytic leukemia-novel STAT3 and STAT5b mutations.
|
24512550 |
2014 |
|
T-Cell Large Granular Lymphocyte Leukemia
|
0.530 |
GeneticVariation
|
disease |
BEFREE |
Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia.
|
23596048 |
2013 |
|
T-Cell Large Granular Lymphocyte Leukemia
|
0.530 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Lymphoma, T-Cell, Cutaneous
|
0.350 |
AlteredExpression
|
disease |
BEFREE |
STAT5 induces miR-21 expression in cutaneous T cell lymphoma.
|
27329723 |
2016 |