about
Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formationMolecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutionsInherited platelet disorders: toward DNA-based diagnosisThe Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataThe Human Phenotype Ontology in 2017Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivationMechanisms of action and targets for actual and future antiplatelet drugsA compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorderMaternal Methyl-Group Donor Intake and Global DNA (Hydroxy)Methylation before and during PregnancyA gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure.PACAP and its receptor VPAC1 regulate megakaryocyte maturation: therapeutic implications.Review article: blood platelet number and function in chronic liver disease and cirrhosis.Emerging treatments for thrombocytopenia: increasing platelet production.Severe gastrointestinal bleeding and thrombocytopenia in a child with an anti-GATA1 autoantibody.Thrombopoietic effect of VPAC1 inhibition during megakaryopoiesis.Regulator of G-protein signaling 18 controls megakaryopoiesis and the cilia-mediated vertebrate mechanosensory system.Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.Update on the causes of platelet disorders and functional consequences.A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.Platelet function is modified by common sequence variation in megakaryocyte super enhancersPituitary Adenylate Cyclase-Activating Polypeptide (PACAP) impairs the regulation of apoptosis in megakaryocytes by activating NF-κB: a proteomic study.Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionTranscriptional diversity during lineage commitment of human blood progenitors.Silencing of RhoA nucleotide exchange factor, ARHGEF3, reveals its unexpected role in iron uptake.Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.Platelet studies in autism spectrum disorder patients and first-degree relativesDNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defectsEuropean guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.What's new in using platelet research? To unravel thrombopathies and other human disorders.Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders.A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disordersPlatelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activityPlatelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.Human platelet pathology related to defects in the G-protein signaling cascade.Maternal intake of methyl-group donors affects DNA methylation of metabolic genes in infants.
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Kathleen Freson
@ast
Kathleen Freson
@en
Kathleen Freson
@es
Kathleen Freson
@nl
type
label
Kathleen Freson
@ast
Kathleen Freson
@en
Kathleen Freson
@es
Kathleen Freson
@nl
prefLabel
Kathleen Freson
@ast
Kathleen Freson
@en
Kathleen Freson
@es
Kathleen Freson
@nl
P106
P1153
6602915344
P21
P31
P496
0000-0002-4381-2442