List of works - Kathleen Freson

-391 C to G substitution in the regulator of G-protein signalling-2 promoter increases susceptibility to the metabolic syndrome in white European men: consistency between molecular and epidemiological studies

scientific article published on January 2007

A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger

scientific article published in 2022

A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder

scientific article

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

scientific article

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

scientific article

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

scientific article published on 15 April 2016

A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system

scientific article published on 31 August 2010

A novel mechanism of sustained platelet αIIbβ3 activation via PEAR1.

scientific article

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets

scientific article published on 25 March 2019

Abnormal differentiation of B cells and megakaryocytes in Roifman syndrome.

scientific article published on 29 January 2018

Allele-specific DNA methylation reinforces PEAR1 enhancer activity

scientific article

An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect

scientific article published on 23 March 2011

Blood platelet research in autism spectrum disorders: In search of biomarkers

scientific article published on 16 July 2019

Cell-Specific PEAR1 Methylation Studies Reveal a Locus that Coordinates Expression of Multiple Genes

scientific article published on 3 April 2018

Chronic Fatigue Syndrome and DNA Hypomethylation of the Glucocorticoid Receptor Gene Promoter 1F Region: Associations With HPA Axis Hypofunction and Childhood Trauma

scientific article published on 30 July 2015

Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH

scientific article published on 01 October 2020

Compound Heterozygous Mutations in theGNASGene of a Boy with Morbid Obesity, Thyroid-Stimulating Hormone Resistance, Pseudohypoparathyroidism, and a Prothrombotic State

scientific article published on 16 September 2008

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

scientific article

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.

scientific article published in August 2001

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

scientific article published on 13 June 2018

Corrigendum to “Investigating the influence of maternal cortisol and emotional state during pregnancy on the DNA methylation status of the glucocorticoid receptor gene (NR3C1) promoter region in cord blood” [J Psychiatr Res 47 880–91]

article

Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

scientific article published on 09 June 2019

DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects

scientific article

DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress.

scientific article

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism

scientific article published on 18 April 2019

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

scientific article published on 01 December 2019

Dietary and supplemental maternal methyl-group donor intake and cord blood DNA methylation

scientific article published on 10 November 2016

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

scientific article (publication date: 15 January 2002)

Distinct neurological disorders with ATP1A3 mutations

scientific article

Distribution and Function of PACAP and Its Receptors in the Healthy and Nephrotic Kidney

scientific article published on 7 April 2016

Effect of VPAC1 Blockade on Adipose Tissue Formation and Composition in Mouse Models of Nutritionally Induced Obesity

scientific article published on 30 June 2010

Emerging treatments for thrombocytopenia: increasing platelet production

scientific article

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

scientific article

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

article published in 2015

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

scientific article published on 21 June 2017

Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene ⬇️

scientific article published on January 1, 1998

From genetics to epigenetics in platelet research

scientific article published on 20 December 2011

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

scientific article

Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation

scientific article

Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood

scientific article published on 13 May 2013

G protein diseases: newly recognized causes of metabolic encephalopathy

scientific article

GATA1 gene variants associated with thrombocytopenia and anemia

scientific article published on 12 September 2017

GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.

scientific article

Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding.

scientific article published in September 2001

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

scientific article published on 26 January 2016

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors

scientific article

High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders

scientific article

High-throughput sequencing for diagnosing platelet disorders: lessons learned from exploring the causes of bleeding disorders

scientific article published on 01 May 2018

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect

scientific article published on 16 August 2012

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

scientific article published on 9 April 2015

Human platelet pathology related to defects in the G-protein signaling cascade.

scientific article published on July 2009

Increased Gs signalling in platelets and impaired collagen activation, due to a defect in the dystrophin gene, result in increased blood loss during spinal surgery

scientific article published in November 2007

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

scientific article published on 20 December 2018

Inherited platelet disorders

scientific article published on 01 July 2012

Inherited platelet disorders: toward DNA-based diagnosis

scientific article

Insights in Megakaryopoiesis and Platelet Biogenesis from Studies of Inherited Thrombocytopenias

Investigating the influence of maternal cortisol and emotional state during pregnancy on the DNA methylation status of the glucocorticoid receptor gene (NR3C1) promoter region in cord blood.

scientific article published on 6 April 2013

Maternal Methyl-Group Donor Intake and Global DNA (Hydroxy)Methylation before and during Pregnancy

scientific article

Maternal intake of methyl-group donors affects DNA methylation of metabolic genes in infants

scientific article published on 07 February 2017

Mechanisms of action and targets for actual and future antiplatelet drugs

scientific article (publication date: June 2006)

Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction

scientific article

Methylome analysis for spina bifida shows SOX18 hypomethylation as a risk factor with evidence for a complex (epi)genetic interplay to affect neural tube development.

scientific article

Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions

scientific article

NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish

scientific article

Newborn genome-wide DNA methylation in association with pregnancy anxiety reveals a potential role for GABBR1.

scientific article published on 3 October 2017

No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity

scientific article published on 26 January 2012

Novel GATA1 mutation in residue D218 leads to macrothrombocytopenia and clinical bleeding problems

scientific article published on 23 August 2013

Novel targets for platelet inhibition

scientific article published on January 2012

Nutri-epigenomic Studies Related to Neural Tube Defects: Does Folate Affect Neural Tube Closure Via Changes in DNA Methylation?

scientific article published on 09 September 2015

PACAP and its receptor VPAC1 regulate megakaryocyte maturation: therapeutic implications

scientific article

PEAR1 attenuates megakaryopoiesis via control of the PI3K/PTEN pathway

scientific article

PIGO deficiency: palmoplantar keratoderma and novel mutations

scientific article published on 25 May 2017

Phenotype description and response to thrombopoietin receptor agonist in -related disorder

scientific article published on 01 September 2018

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

scientific article published on 28 September 2017

Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP) impairs the regulation of apoptosis in megakaryocytes by activating NF-κB: a proteomic study

scientific article

Pituitary adenylate cyclase-activating polypeptide (PACAP) in zebrafish models of nephrotic syndrome.

scientific article published on 31 July 2017

Pituitary adenylate cyclase-activating polypeptide deficiency associated with increased platelet count and aggregability in nephrotic syndrome

scientific article published on 13 April 2015

Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation.

scientific article published on 16 April 2010

Platelet abnormalities in nephrotic syndrome

scientific article published on 13 August 2015

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

scientific article published on May 2013

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

scientific article

Platelet studies in autism spectrum disorder patients and first-degree relatives

scientific article

Platelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activity

scientific article

Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients.

scientific article published on 21 December 2013

Proteomics to unravel platelet-related diseases and identify novel anti-platelet drugs

scientific article published on January 2012

Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.

scientific article published on October 2002

Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders

scientific article published on 08 May 2008

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

scientific article published on 14 November 2016

Recent advances in GNAS epigenetic research of pseudohypoparathyroidism

scientific article published on June 2012

Recent advances in platelet proteomics

scientific article published on August 2012

Regulated granule trafficking in platelets and neurons: a common molecular machinery

scientific article published on 28 August 2012

Regulator of G-protein signaling 18 controls megakaryopoiesis and the cilia-mediated vertebrate mechanosensory system

scientific article

Regulators of G protein signaling: role in hematopoiesis, megakaryopoiesis and platelet function ⬇️

scientific article published on November 1, 2012

Regulators of platelet cAMP levels: clinical and therapeutic implications

scientific article

Review article: blood platelet number and function in chronic liver disease and cirrhosis.

scientific article

SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.

scientific article

Severe gastrointestinal bleeding and thrombocytopenia in a child with an anti-GATA1 autoantibody

scientific article

Silencing of RhoA nucleotide exchange factor, ARHGEF3, reveals its unexpected role in iron uptake

scientific article published on 28 June 2011

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

scientific article published on 22 November 2018

Strengths and limitations of high-throughput sequencing for the diagnosis of inherited bleeding and platelet disorders

scientific article published on 10 June 2020

The (Patho)Biology of SRC Kinase in Platelets and Megakaryocytes

scientific article published on 24 November 2020

The A/T1381 polymorphism in the A1-domain of von Willebrand factor influences the affinity of von Willebrand factor for platelet glycoprotein Ibα

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

scientific article

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

scientific article (publication date: 2014)

The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure

scientific article

The amplitude of coagulation curves from thrombin time tests allows dysfibrinogenemia caused by the common mutation FGG-Arg301 to be distinguished from hypofibrinogenemia.

scientific article

The contribution of platelet studies to the understanding of disease mechanisms in complex and monogenetic neurological disorders

scientific article published on 03 March 2014

The effect of paternal methyl-group donor intake on offspring DNA methylation and birth weight.

scientific article published on 6 March 2017

The pituitary adenylate cyclase–activating polypeptide is a physiological inhibitor of platelet activation

article published in 2004

The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer

scientific article

Thrombopoietic effect of VPAC1 inhibition during megakaryopoiesis

scientific article

Transcriptional diversity during lineage commitment of human blood progenitors

scientific article

Update on the causes of platelet disorders and functional consequences.

scientific article

What's new in using platelet research? To unravel thrombopathies and other human disorders

scientific article published on 10 July 2007

List of works by Kathleen Freson

-391 C to G substitution in the regulator of G-protein signalling-2 promoter increases susceptibility to the metabolic syndrome in white European men: consistency between molecular and epidemiological studies

A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger

A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system

A novel mechanism of sustained platelet αIIbβ3 activation via PEAR1.

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets

Abnormal differentiation of B cells and megakaryocytes in Roifman syndrome.

Allele-specific DNA methylation reinforces PEAR1 enhancer activity

An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect

Blood platelet research in autism spectrum disorders: In search of biomarkers

Cell-Specific PEAR1 Methylation Studies Reveal a Locus that Coordinates Expression of Multiple Genes

Chronic Fatigue Syndrome and DNA Hypomethylation of the Glucocorticoid Receptor Gene Promoter 1F Region: Associations With HPA Axis Hypofunction and Childhood Trauma

Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH

Compound Heterozygous Mutations in theGNASGene of a Boy with Morbid Obesity, Thyroid-Stimulating Hormone Resistance, Pseudohypoparathyroidism, and a Prothrombotic State

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Corrigendum to “Investigating the influence of maternal cortisol and emotional state during pregnancy on the DNA methylation status of the glucocorticoid receptor gene (NR3C1) promoter region in cord blood” [J Psychiatr Res 47 880–91]

Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects

DNA methylation in imprinted genes IGF2 and GNASXL is associated with prenatal maternal stress.

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Dietary and supplemental maternal methyl-group donor intake and cord blood DNA methylation

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

Distinct neurological disorders with ATP1A3 mutations

Distribution and Function of PACAP and Its Receptors in the Healthy and Nephrotic Kidney

Effect of VPAC1 Blockade on Adipose Tissue Formation and Composition in Mouse Models of Nutritionally Induced Obesity

Emerging treatments for thrombocytopenia: increasing platelet production

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene ⬇️

From genetics to epigenetics in platelet research

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation

Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood

G protein diseases: newly recognized causes of metabolic encephalopathy

GATA1 gene variants associated with thrombocytopenia and anemia

GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.

Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding.

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors

High-throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders

High-throughput sequencing for diagnosing platelet disorders: lessons learned from exploring the causes of bleeding disorders

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

Human platelet pathology related to defects in the G-protein signaling cascade.

Increased Gs signalling in platelets and impaired collagen activation, due to a defect in the dystrophin gene, result in increased blood loss during spinal surgery

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

Inherited platelet disorders

Inherited platelet disorders: toward DNA-based diagnosis

Insights in Megakaryopoiesis and Platelet Biogenesis from Studies of Inherited Thrombocytopenias

Investigating the influence of maternal cortisol and emotional state during pregnancy on the DNA methylation status of the glucocorticoid receptor gene (NR3C1) promoter region in cord blood.

Maternal Methyl-Group Donor Intake and Global DNA (Hydroxy)Methylation before and during Pregnancy

Maternal intake of methyl-group donors affects DNA methylation of metabolic genes in infants

Mechanisms of action and targets for actual and future antiplatelet drugs

Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction

Methylome analysis for spina bifida shows SOX18 hypomethylation as a risk factor with evidence for a complex (epi)genetic interplay to affect neural tube development.

Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions

NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish

Newborn genome-wide DNA methylation in association with pregnancy anxiety reveals a potential role for GABBR1.

No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity

Novel GATA1 mutation in residue D218 leads to macrothrombocytopenia and clinical bleeding problems

Novel targets for platelet inhibition

Nutri-epigenomic Studies Related to Neural Tube Defects: Does Folate Affect Neural Tube Closure Via Changes in DNA Methylation?

PACAP and its receptor VPAC1 regulate megakaryocyte maturation: therapeutic implications

PEAR1 attenuates megakaryopoiesis via control of the PI3K/PTEN pathway

PIGO deficiency: palmoplantar keratoderma and novel mutations

Phenotype description and response to thrombopoietin receptor agonist in -related disorder

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP) impairs the regulation of apoptosis in megakaryocytes by activating NF-κB: a proteomic study

Pituitary adenylate cyclase-activating polypeptide (PACAP) in zebrafish models of nephrotic syndrome.

Pituitary adenylate cyclase-activating polypeptide deficiency associated with increased platelet count and aggregability in nephrotic syndrome

Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation.