List of works - María Eugenia de la Morena Barrio

A human antithrombin isoform dampens inflammatory responses and protects from organ damage during bacterial infection

scientific article published on 23 September 2019

A new method to quantify β-antithrombin glycoform in plasma reveals increased levels during the acute stroke event

scientific article published on 06 July 2015

ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

scientific article published on 12 June 2020

Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.

scientific article

Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency.

scientific article published on 21 April 2016

Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency

scientific article published on 13 September 2020

Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries

scientific article published on 01 May 2019

Commentary on Acquired Factor XI Deficiency during SARS-CoV-2 Infection: Not Only Thrombosis

scientific article published on 01 July 2020

Compound heterozygosity involving Antithrombin Cambridge II (p.Ala416Ser) in antithrombin deficiency

scientific article published on 17 January 2013

Congenital antithrombin deficiency in patients with splanchnic vein thrombosis

scientific article published on 29 December 2019

Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia.

scientific article

Control of post-translational modifications in antithrombin during murine post-natal development by miR-200a

scientific article published on 16 May 2013

Correction: Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency

scientific article published on 21 July 2016

Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).

scientific article published on 27 October 2016

Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies

scientific article published on 28 July 2019

Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway

scientific article published on 09 October 2020

First case with antithrombin deficiency, mesenteric vein thrombosis and pregnancy: Multidisciplinary diagnosis and successful management.

scientific article published on 3 June 2016

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

scientific article

Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.

scientific article published on 18 August 2017

Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo

scientific article published on 19 July 2020

High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study

scientific article published on 27 September 2017

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

scientific article

Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency

scientific article

Identification of antithrombin-modulating genes. Role of LARGE, a gene encoding a bifunctional glycosyltransferase, in the secretion of proteins?

scientific article

Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods

scientific article published on 02 April 2019

N-Glycosylation as a Tool to Study Antithrombin Secretion, Conformation, and Function

scientific article published on 06 January 2021

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

scientific article

Protective role of antithrombin in mouse models of liver injury

scientific article published on 26 June 2012

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

scientific article published on 21 December 2013

Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency

scientific article published on 28 September 2017

Regulatory regions of SERPINC1 gene: Identification of the first mutation associated with antithrombin deficiency

article

Role of the C-sheet in the maturation of N-glycans on antithrombin: functional relevance of pleiotropic mutations.

scientific article

Subcellular localization of antizyme inhibitor 2 in mammalian cells: Influence of intrinsic sequences and interaction with antizymes

scientific journal article

The induction of cardiac ornithine decarboxylase by β2 -adrenergic agents is associated with calcium channels and phosphorylation of ERK1/2.

scientific article

The infective polymerization of conformationally unstable antithrombin mutants may play a role in the clinical severity of antithrombin deficiency.

scientific article

Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy

scientific article published on 17 March 2017

Uniparental disomy causes deficiencies of vitamin K-dependent proteins

scientific article published on 28 September 2016

Using Machine Learning for Predicting the Effect of Mutations in the Initiation Codon

scientific article published in November 2022

List of works by María Eugenia de la Morena Barrio

A human antithrombin isoform dampens inflammatory responses and protects from organ damage during bacterial infection

A new method to quantify β-antithrombin glycoform in plasma reveals increased levels during the acute stroke event

ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.

Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency.

Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency

Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries

Commentary on Acquired Factor XI Deficiency during SARS-CoV-2 Infection: Not Only Thrombosis

Compound heterozygosity involving Antithrombin Cambridge II (p.Ala416Ser) in antithrombin deficiency

Congenital antithrombin deficiency in patients with splanchnic vein thrombosis

Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia.

Control of post-translational modifications in antithrombin during murine post-natal development by miR-200a

Correction: Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency

Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).

Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies

Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway

First case with antithrombin deficiency, mesenteric vein thrombosis and pregnancy: Multidisciplinary diagnosis and successful management.

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.

Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo

High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency

Identification of antithrombin-modulating genes. Role of LARGE, a gene encoding a bifunctional glycosyltransferase, in the secretion of proteins?

Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods

N-Glycosylation as a Tool to Study Antithrombin Secretion, Conformation, and Function

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

Protective role of antithrombin in mouse models of liver injury

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

Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency

Regulatory regions of SERPINC1 gene: Identification of the first mutation associated with antithrombin deficiency

Role of the C-sheet in the maturation of N-glycans on antithrombin: functional relevance of pleiotropic mutations.

Subcellular localization of antizyme inhibitor 2 in mammalian cells: Influence of intrinsic sequences and interaction with antizymes

The induction of cardiac ornithine decarboxylase by β2 -adrenergic agents is associated with calcium channels and phosphorylation of ERK1/2.

The infective polymerization of conformationally unstable antithrombin mutants may play a role in the clinical severity of antithrombin deficiency.

Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy

Uniparental disomy causes deficiencies of vitamin K-dependent proteins

Using Machine Learning for Predicting the Effect of Mutations in the Initiation Codon