THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndrome; a missense mutation in a patient with X-linked thrombocytopenia; and mutations in the RUNX1 gene of five patients with familial platelet disorder with propensity to acute myelogenous leukemia, and in the ANKRD26 gene of four patients with autosomal dominant thrombocytopenia-2.
|
26175287 |
2015 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.
|
10521306 |
1999 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Moreover, investigation of one patient with the c.3G>A showed that mutation was associated with strong ANKRD26 overexpression in vivo, which is the proposed mechanism for predisposition to AML in THC2 patients.
|
28100250 |
2017 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
CLINGEN |
Childhood diagnosis of genetic thrombocytopenia with mutation in the ankyrine repeat domain 26 gene.
|
25902755 |
2015 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
CLINGEN |
However, we recently identified mutations in the 5'-untranslated region of the ANKRD26 gene in 9 THC2 families.
|
21467542 |
2011 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
However, we recently identified mutations in the 5'-untranslated region of the ANKRD26 gene in 9 THC2 families.
|
21467542 |
2011 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
BEFREE |
ANKRD26-related thrombocytopenia (ANKRD26-RT) is an autosomal-dominant thrombocytopenia caused by mutations in the 5'UTR of the ANKRD26 gene.
|
23223974 |
2013 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
BEFREE |
The gene for a novel nonsyndromic autosomal dominant thrombocytopenia has been previously mapped to a region on human chromosome 10p11-12 (THC2, OMIM number *188000).
|
12890928 |
2003 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
|
21211618 |
2011 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
CLINGEN |
ANKRD26-related thrombocytopenia and myeloid malignancies.
|
24030261 |
2013 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
CLINGEN |
Using megakaryocytes (MK) isolated from THC2 patients and healthy subjects, we demonstrated that THC2-associated mutations in the 5' UTR of ANKRD26 resulted in loss of runt-related transcription factor 1 (RUNX1) and friend leukemia integration 1 transcription factor (FLI1) binding.
|
24430186 |
2014 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Thrombocytopenia 2 (THC2) is an autosomal-dominant disorder caused by point substitutions in the 5'UTR of the ANKRD26 gene.
|
28976612 |
2017 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
CLINGEN |
Due to the positive family history and normal thrombocyte morphology ANKRD26-associated thrombocytopenia 2 (THC2) was suspected.
|
23677566 |
2013 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
The clinical and laboratory characteristics of patients with non-syndromic, autosomal dominant thrombocytopenia secondary to germ line ANKRD26 mutations appear to be heterogeneous.
|
27123948 |
2016 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Using megakaryocytes (MK) isolated from THC2 patients and healthy subjects, we demonstrated that THC2-associated mutations in the 5' UTR of ANKRD26 resulted in loss of runt-related transcription factor 1 (RUNX1) and friend leukemia integration 1 transcription factor (FLI1) binding.
|
24430186 |
2014 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.
|
20626622 |
2010 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
|
21211618 |
2011 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
CLINGEN |
We identified chromosomal deletions within the WASP gene in two patients with Wiskott-Aldrich syndrome; a missense mutation in a patient with X-linked thrombocytopenia; and mutations in the RUNX1 gene of five patients with familial platelet disorder with propensity to acute myelogenous leukemia, and in the ANKRD26 gene of four patients with autosomal dominant thrombocytopenia-2.
|
26175287 |
2015 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
CLINGEN |
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
|
21211618 |
2011 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
CLINGEN |
A novel nucleotide substitution in the 5' untranslated region of ANKRD26 gene is associated with inherited thrombocytopenia: a report of two new families.
|
30747248 |
2019 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
CTD_human |
|
|
|
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
CLINGEN |
A novel ANKRD26 gene variant causing inherited thrombocytopenia in a family of Finnish origin: Another brick in the wall?
|
28109976 |
2017 |
THROMBOCYTOPENIA 2 (disorder)
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Discussing and managing hematologic germ line variants.
|
27881370 |
2016 |