Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This is mainly due to the fact that the GPS antenna is occasionally covered by sea water and cannot normally receive high-quality satellite GPS signals.
|
30696045 |
2019 |
Gray Platelet Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Nbeal2 cause gray platelet syndrome (GPS), characterized by the lack of platelet α-granules.
|
30394544 |
2019 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Most algorithms for reducing multipath manipulate the GPS double difference (DD) observation residuals as input signal in GPS signal processing.
|
31208112 |
2019 |
Gray Platelet Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One type of α-SPD is gray platelet syndrome (GPS), caused by mutations in the neurobeachin-like 2 (NBEAL2) gene that results in a bleeding diathesis, thrombocytopenia, splenomegaly, and progressive myelofibrosis.
|
31228350 |
2019 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We observed absence of NBEAL2 in platelets from GPS patients with 3 different genotypes, and reduced/truncated platelet NBEAL2 has been reported for others.
|
29869935 |
2018 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Up to date, these are only four studies identifying NBEAL2 gene correlated with GPS.
|
28504079 |
2018 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Gyro-sensors and accelerometers depend on the performance of GPS receivers and cannot be used in areas where GPS signals are blocked.
|
29570678 |
2018 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
However, in case the received GPS power is decreased, the performance of the conventional RLL algorithm degrades, or it cannot estimate the roll angle anymore, therefore, for operating the RLL algorithm in a weak signal environment, this paper designs a method to increase the signal-to-noise ratio (SNR) by overlapping multiple GPS signals' correlator outputs and a method to compensate the decreased response of a rotation discriminator at low-signal strength.
|
30587841 |
2018 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This study shows for the first time proteins interacting with Nbeal2 and points to the dysregulation of the canonical signaling pathway of Dock7 as a possible cause of the aberrant formation of platelets in GPS cases and <i>Nbeal2-</i>deficient mice.
|
29187380 |
2018 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Based on this new model, the developed simulator can present how the GPS signals (L1 and L2 carrier frequencies, C/A, P(Y) and L2C modulations) are transmitted (scattered and absorbed) through vegetation medium and received by GPS receivers.
|
28587255 |
2017 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The functions of the NBEAL2 protein have not been explored outside platelet biology, but there are reports of increased frequency of infection and abnormal neutrophil morphology in patients with GPS.
|
28783043 |
2017 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss-of-function mutations in the human <i>NBEAL2</i> gene or Nbeal2 deficiency in mice cause gray platelet syndrome, a bleeding disorder characterized by macrothrombocytopenia, splenomegaly, and paucity of α-granules in megakaryocytes and platelets.
|
28887433 |
2017 |
Gray Platelet Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The autosomal recessive form of GPS is linked to loss of function mutations in NBEAL2, which is predicted to regulate granule trafficking in megakaryocytes, the platelet progenitors.
|
26987485 |
2016 |
Gray Platelet Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mice homozygous for the Nbeal2 8 bp deletion (Nbeal2gps/gps) exhibit a phenotype similar to human GPS, with significantly reduced platelet counts compared to littermate controls (p = 1.63 x 10-7).
|
26950939 |
2016 |
Gray Platelet Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
While NBEAL2 is the major source of mutations in GPS, other gene variants may give rise to significant α-granule deficiencies in platelets.
|
26971401 |
2016 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We report the first analysis of cultured megakaryocytes from GPS patients with NBEAL2 mutations.
|
26987485 |
2016 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Mice homozygous for the Nbeal2 8 bp deletion (Nbeal2gps/gps) exhibit a phenotype similar to human GPS, with significantly reduced platelet counts compared to littermate controls (p = 1.63 x 10-7).
|
26950939 |
2016 |
Gray Platelet Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We studied platelet function and bone marrow (BM) features in five GPS patients with NBEAL2 autosomal recessive mutations from four unrelated families.
|
25806575 |
2015 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
We present here a novel Nbeal2(-/-) murine model of GPS and demonstrate that the lack of α-granules is due to their loss from platelets/mature megakaryocytes (MKs), and not by initial impaired formation.
|
25258341 |
2014 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We present here a novel Nbeal2(-/-) murine model of GPS and demonstrate that the lack of α-granules is due to their loss from platelets/mature megakaryocytes (MKs), and not by initial impaired formation.
|
25258341 |
2014 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The genetic defect responsible for gray platelet syndrome was recently identified in biallelic mutations in the NBEAL2 gene.
|
23100277 |
2013 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
As in GPS, Nbeal2(-/-) mice exhibit splenomegaly, macrothrombocytopenia, and a deficiency of platelet α-granules and their cargo, including von Willebrand factor (VWF), thrombospondin-1, and platelet factor 4.
|
23861251 |
2013 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Here we show that Nbeal2-knockout mice display the characteristics of human GPS, with defective α-granule biogenesis in MKs and their absence from platelets.
|
23863626 |
2013 |
Gray Platelet Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The genetic defect responsible for gray platelet syndrome was recently identified in biallelic mutations in the NBEAL2 gene.
|
23100277 |
2013 |
Gray Platelet Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
|
21765411 |
2011 |