Lista de obras - Gael Nicolas - Dominio Público Uruguay

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

artículo científico publicado en 2016

A mutant alphaII-spectrin designed to resist calpain and caspase cleavage questions the functional importance of this process in vivo.

artículo científico publicado en 2007

Age and the association between apolipoprotein E genotype and Alzheimer disease: A cerebrospinal fluid biomarker-based case-control study

scientific article published on 20 August 2020

AlphaII-spectrin interacts with Tes and EVL, two actin-binding proteins located at cell contacts

artículo científico publicado en 2005

AlphaII-spectrin is an in vitro target for caspase-2, and its cleavage is regulated by calmodulin binding.

artículo científico publicado en 2004

Alzheimer disease: modeling an Aβ-centered biological network

artículo científico publicado en 2016

Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review

artículo científico publicado en 2017

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

artículo científico publicado en 2015

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification

artículo científico publicado en 2019

Chronic hepcidin induction causes hyposideremia and alters the pattern of cellular iron accumulation in hemochromatotic mice

artículo científico publicado en 2005

Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.

artículo científico publicado en 2016

Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder

scientific article published on 07 August 2019

Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis

artículo científico publicado en 2003

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

artículo científico publicado en 2019

De l’identification des bases moléculaires des calcifications cérébrales primaires aux mécanismes physiopathologiques : de nouvelles étapes

artículo científico publicado en 2015

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

artículo científico publicado en 2015

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

artículo científico publicado en 2017

Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.

artículo científico publicado en 2017

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

artículo científico publicado en 2020

Differential Diagnosis of Dementia with High Levels of Cerebrospinal Fluid Tau Protein

artículo científico publicado en 2016

Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria

scientific article published on 31 January 2019

Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.

artículo científico publicado en 2017

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

artículo científico publicado en 2020

From Common to Rare Variants: The Genetic Component of Alzheimer Disease.

artículo científico publicado en 2016

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

artículo científico publicado en 2018

Functional differences between hepcidin 1 and 2 in transgenic mice ⬇️

artículo científico publicado el 6 de noviembre de 2003

Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element

artículo científico publicado en 2020

Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice

artículo científico publicado en 2003

Hepcidin, a new iron regulatory peptide

artículo científico publicado en 2002

Identification of ubiquitinated repeats in human erythroid alpha-spectrin

artículo científico publicado en 2000

Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease

artículo científico publicado en 2021

Improving Significance in Association Studies: a New Perspective for Association Studies Submitted to the Journal of Molecular Neuroscience

artículo científico publicado en 2015

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

artículo científico publicado en 2012

Interplay between PFBC-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis

artículo científico publicado en 2020

Iron deficiency and anemia in adolescent girls consuming predominantly plant-based diets in rural Ethiopia

artículo científico publicado en 2019

Iron- and inflammation-induced hepcidin gene expression in mice is not mediated by Kupffer cells in vivo.

artículo científico publicado en 2005

Iron-deficiency anemia from matriptase-2 inactivation is dependent on the presence of functional Bmp6

artículo científico publicado en 2010

Is EPO therapy able to correct iron deficiency anaemia caused by matriptase-2 deficiency?

artículo científico publicado en 2011

Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume

artículo científico publicado en 2011

LC-MS/MS method for hepcidin-25 measurement in human and mouse serum: clinical and research implications in iron disorders.

artículo científico publicado en 2015

Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice

scientific journal article

Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation

artículo científico publicado en 2020

Matriptase-2 is essential for hepcidin repression during fetal life and postnatal development in mice to maintain iron homeostasis

artículo científico publicado en 2014

Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

artículo científico publicado en 2017

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification ⬇️

artículo científico publicado el 19 de diciembre de 2012

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

artículo científico publicado en 2015

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

artículo científico publicado en 2013

Porphyrias: A 2015 update

artículo científico

Primary brain calcification: an international study reporting novel variants and associated phenotypes

artículo científico publicado en 2018

Properties of normal and mutant polypeptide fragments from the dimer self-association sites of human red cell spectrin

artículo científico publicado en 1999

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

artículo científico publicado en 2020

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias

artículo científico publicado en 2019

Reply: New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy

scientific article published on 01 September 2019

SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data

scientific article published on 25 March 2019

Severe iron deficiency anemia in transgenic mice expressing liver hepcidin

artículo científico publicado en 2002

Significant contribution of intragenic deletions to ARID1B mutation spectrum

scientific article published on 20 May 2019

Spectrin self-association site: characterization and study of β-spectrin mutations associated with hereditary elliptocytosis ⬇️

artículo científico publicado el 15 de mayo de 1998

The AMP-activated protein kinase alpha2 catalytic subunit controls whole-body insulin sensitivity

artículo científico publicado en 2003

The AMP-activated protein kinase α2 catalytic subunit controls whole-body insulin sensitivity

article by Benoit Viollet et al published 1 January 2003 in Journal of Clinical Investigation

The microbiota shifts the iron sensing of intestinal cells.

artículo científico publicado en 2015

The role of de novo mutations in adult-onset neurodegenerative disorders.

artículo científico publicado en 2018

Transferrin receptor 1 mRNA is downregulated in placenta of hepcidin transgenic embryos.

artículo científico publicado en 2004

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

artículo científico

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

XPR1 mutations are a rare cause of primary familial brain calcification.

artículo científico publicado en 2016

[Deciphering the action mechanism of hepcidin]

artículo científico publicado en 2005

Lista de obras de Gael Nicolas

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

A mutant alphaII-spectrin designed to resist calpain and caspase cleavage questions the functional importance of this process in vivo.

Age and the association between apolipoprotein E genotype and Alzheimer disease: A cerebrospinal fluid biomarker-based case-control study

AlphaII-spectrin interacts with Tes and EVL, two actin-binding proteins located at cell contacts

AlphaII-spectrin is an in vitro target for caspase-2, and its cleavage is regulated by calmodulin binding.

Alzheimer disease: modeling an Aβ-centered biological network

Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review

Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification

Chronic hepcidin induction causes hyposideremia and alters the pattern of cellular iron accumulation in hemochromatotic mice

Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.

Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder

Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

De l’identification des bases moléculaires des calcifications cérébrales primaires aux mécanismes physiopathologiques : de nouvelles étapes

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

Differential Diagnosis of Dementia with High Levels of Cerebrospinal Fluid Tau Protein

Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria

Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

From Common to Rare Variants: The Genetic Component of Alzheimer Disease.

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

Functional differences between hepcidin 1 and 2 in transgenic mice ⬇️

Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element

Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice

Hepcidin, a new iron regulatory peptide

Identification of ubiquitinated repeats in human erythroid alpha-spectrin

Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease

Improving Significance in Association Studies: a New Perspective for Association Studies Submitted to the Journal of Molecular Neuroscience

Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

Interplay between PFBC-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis

Iron deficiency and anemia in adolescent girls consuming predominantly plant-based diets in rural Ethiopia

Iron- and inflammation-induced hepcidin gene expression in mice is not mediated by Kupffer cells in vivo.

Iron-deficiency anemia from matriptase-2 inactivation is dependent on the presence of functional Bmp6

Is EPO therapy able to correct iron deficiency anaemia caused by matriptase-2 deficiency?

Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume

LC-MS/MS method for hepcidin-25 measurement in human and mouse serum: clinical and research implications in iron disorders.

Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice

Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation

Matriptase-2 is essential for hepcidin repression during fetal life and postnatal development in mice to maintain iron homeostasis

Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification ⬇️

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

Porphyrias: A 2015 update

Primary brain calcification: an international study reporting novel variants and associated phenotypes

Properties of normal and mutant polypeptide fragments from the dimer self-association sites of human red cell spectrin

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias

Reply: New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy

SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data

Severe iron deficiency anemia in transgenic mice expressing liver hepcidin

Significant contribution of intragenic deletions to ARID1B mutation spectrum

Spectrin self-association site: characterization and study of β-spectrin mutations associated with hereditary elliptocytosis ⬇️

The AMP-activated protein kinase alpha2 catalytic subunit controls whole-body insulin sensitivity

The AMP-activated protein kinase α2 catalytic subunit controls whole-body insulin sensitivity

The microbiota shifts the iron sensing of intestinal cells.

The role of de novo mutations in adult-onset neurodegenerative disorders.

Transferrin receptor 1 mRNA is downregulated in placenta of hepcidin transgenic embryos.

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

XPR1 mutations are a rare cause of primary familial brain calcification.

[Deciphering the action mechanism of hepcidin]