Search Results - "Freson, K."

High‐throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders by Freson, K., Turro, E.

“…Summary Hereditary bleeding and platelet disorders (BPDs) are characterized by marked genetic heterogeneity, far greater than previously appreciated. The list…”
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High‐throughput sequencing for diagnosing platelet disorders: lessons learned from exploring the causes of bleeding disorders by Heremans, J., Freson, K.

“…Inherited platelet disorders (IPDs) are a heterogeneous group of disorders caused by multiple genetic defects. Obtaining a molecular diagnosis for IPD patients…”
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Inherited platelet disorders by NURDEN, A. T., FRESON, K., SELIGSOHN, U.

“…Inherited diseases of the megakaryocyte lineage give rise to bleeding when platelets fail to fulfill their hemostatic function upon vessel injury. Platelet…”
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Review article: blood platelet number and function in chronic liver disease and cirrhosis by WITTERS, P., FRESON, K., VERSLYPE, C., PEERLINCK, K., HOYLAERTS, M., NEVENS, F., VAN GEET, C., CASSIMAN, D.

“…Summary Background  The liver plays a central role in coagulation and fibrinolysis but is also closely intertwined with the function and number of blood…”
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Regulators of G protein signaling: role in hematopoiesis, megakaryopoiesis and platelet function by LOUWETTE, S., VAN GEET, C., FRESON, K.

“…Regulators of G protein signaling (RGS) are intracellular signaling regulators that bind activated G protein α subunits (Gα) and increase their intrinsic…”
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DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress by Vangeel, E. B., Izzi, B., Hompes, T., Vansteelandt, K., Lambrechts, D., Freson, K., Claes, S.

“…Epigenetic regulation of imprinted genes during embryonic development is influenced by the prenatal environment. Our aim was to examine the effect of maternal…”
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Regulators of platelet cAMP levels: clinical and therapeutic implications by Noé, L, Peeters, K, Izzi, B, Van Geet, C, Freson, K

“…Platelets are indispensable for primary haemostasis, but their function needs to be tightly regulated to prevent excessive platelet activity, possibly leading…”
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A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder by HERMANS, C., WITTEVRONGEL, C., THYS, C., SMETHURST, P. A., VAN GEET, C., FRESON, K.

“…Background: The physiological relevance of the collagen glycoprotein VI (GPVI) receptor was known prior to its recognition as a platelet membrane receptor as…”
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Update on the causes of platelet disorders and functional consequences by Freson, K., Wijgaerts, A., van Geet, C.

“…Summary Platelets are derived from megakaryocytes in the bone marrow that create the cellular machinery the platelet needs to participate in the different…”
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Recent advances in GNAS epigenetic research of pseudohypoparathyroidism by Izzi, B, Van Geet, C, Freson, K

“…Endocrinopathies in patients with hypocalcemia and hyperphosphatemia that share resistance to parathyroid hormone (PTH) are grouped under the term…”
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Pituitary adenylate cyclase‐activating polypeptide deficiency associated with increased platelet count and aggregability in nephrotic syndrome by Eneman, B., Freson, K., Heuvel, L., hoyweghen, E., Collard, L., Vande Walle, J., Geet, C., Levtchenko, E.

“…Summary Background Pituitary adenylate cyclase‐activating polypeptide (PACAP) was recently identified as an inhibitor of megakaryopoiesis and platelet…”
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The amplitude of coagulation curves from thrombin time tests allows dysfibrinogenemia caused by the common mutation FGG‐Arg301 to be distinguished from hypofibrinogenemia by Jacquemin, M., Vanlinthout, I., Van Horenbeeck, I., Debasse, M., Toelen, J., Schoeters, J., Lavend'homme, R., Freson, K., Peerlinck, K.

“…Summary Introduction Thrombin time (TT) tests are useful for diagnosing coagulation disorders involving abnormal fibrinogen but do not allow us to distinguish…”
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Human platelet pathology related to defects in the G‐protein signaling cascade by VAN GEET, C., IZZI, B., LABARQUE, V., FRESON, K.

“…Platelets are highly responsive to signals from their environment. The sensing and processing of some of these stimuli are mediated by G‐protein signal…”
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Proteomics to unravel platelet-related diseases and identify novel anti-platelet drugs by Di Michele, M, Van Geet, C, Freson, K

“…Blood platelets play a fundamental role in primary haemostasis and wound repair, but are also involved in several thrombotic and bleeding disorders for which…”
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The effect of paternal methyl-group donor intake on offspring DNA methylation and birth weight by Pauwels, S, Truijen, I, Ghosh, M, Duca, R C, Langie, S A S, Bekaert, B, Freson, K, Huybrechts, I, Koppen, G, Devlieger, R, Godderis, L

“…Most nutritional studies on the development of children focus on mother-infant interactions. Maternal nutrition is critically involved in the growth and…”
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Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation by NOÉ, L., DI MICHELE, M., GIETS, E., THYS, C., WITTEVRONGEL, C., DE VOS, R., OVERBERGH, L., WAELKENS, E., JAEKEN, J., VAN GEET, C., FRESON, K.

“…Background: Regulator of G‐protein signaling (RGS) 2 negatively regulates Gs signaling by inhibiting the activation of adenylyl cyclase (AC). RGS2 mRNA…”
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Proteomic analysis of platelet N -glycoproteins in PMM2-CDG patients by de la Morena-Barrio, M.E, Di Michele, M, Lozano, M.L, Rivera, J, Pérez-Dueñas, B, Altisent, C, Sevivas, T, Vicente, V, Jaeken, J, Freson, K, Corral, J

“…Abstract PMM2-CDG, the most frequent congenital disorder of N- glycosylation, is an autosomal recessive disease with a multisystem presentation. PMM2-CDG…”
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2244 – Maternal prenatal anxiety and epigenetic modification glucocorticoid receptor gene: the shaping of the biological stress response by Claes, S, Hompes, T, Verhaeghe, J, Freson, K, Demyttenaere, K

“…Background The methylation status of the human glucocorticoid receptor gene NR3C1 in newborns has been reported to be sensitive to prenatal maternal mood. This…”
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Different 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 inactivation by FRESON, Kathleen, MATTHIJS, Gert, THYS, Chantal, MARIËN, Paul, HOYLAERTS, Marc F, VERMYLEN, Jos, VAN GEET, Chris

“…GATA1 is the X-linked transcriptional activator required for megakaryocyte and erythrocyte differentiation. Missense mutations in the N-terminal zinc finger…”
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ADP‐degrading enzymes inhibit platelet activation in bile duct‐ligated rats by WITTERS, P., HOYLAERTS, M., FRESON, K., DE VOS, R., VAN PELT, J., NEVENS, F., VAN GEET, C., CASSIMAN, D.

“…Background: The effect of cholestatic liver disease on primary hemostasis function remains ill‐defined. Objectives: To determine platelet function and identify…”
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