Lista de obras - Laurent Gouya - Dominio Público Uruguay

A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease

artículo científico publicado en 2016

A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes

artículo científico publicado en 2010

A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria.

artículo científico publicado en 2002

A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity

artículo científico publicado en 2012

ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.

artículo científico publicado en 2011

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria

artículo científico publicado en 2011

Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments.

artículo científico publicado en 2017

Acute intermittent porphyria causes hepatic mitochondrial energetic failure in a mouse model

artículo científico publicado en 2014

Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria

artículo científico publicado en 2014

Association and excess of transmission of a DRD2 haplotype in a sample of French schizophrenic patients

artículo científico publicado en 2001

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload

artículo científico publicado en 2008

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria

artículo científico publicado en 2005

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition

artículo científico publicado en 2014

Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda.

artículo científico publicado en 1998

Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in mice.

artículo científico publicado en 2013

Erythrocyte Efferocytosis by the Arterial Wall Promotes Oxidation in Early-Stage Atheroma in Humans.

artículo científico publicado en 2017

Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis

artículo científico publicado en 1999

From tissue iron retention to low systemic haemoglobin levels, new pathophysiological biomarkers of human abdominal aortic aneurysm

artículo científico publicado en 2014

Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene.

artículo científico publicado en 2006

Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).

artículo científico publicado en 2002

Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model

artículo científico publicado en 2016

Hepcidin as a Major Component of Renal Antibacterial Defenses against Uropathogenic Escherichia coli

artículo científico publicado en 2015

Hepcidin regulates intrarenal iron handling at the distal nephron.

artículo científico publicado en 2013

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans

artículo científico publicado en 2015

High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria

artículo científico publicado en 2015

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations

artículo científico publicado en 2017

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

artículo científico publicado en 2016

Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.

artículo científico publicado en 2015

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

article

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

artículo científico publicado en 2009

Impulsiveness as the intermediate link between the dopamine receptor D2 gene and alcohol dependence

artículo científico publicado en 2003

Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice

scientific journal article

Influence of meteorological data on sun tolerance in patients with erythropoietic protoporphyria in France.

artículo científico publicado en 2016

Inheritance in erythropoietic protoporphyria

artículo científico publicado en 2010

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation

artículo científico publicado en 1999

Iron refractory iron deficiency anemia

artículo científico publicado en 2013

Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients.

artículo científico publicado en 2016

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

Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly

artículo científico publicado en 2012

Lethal ALAS2 mutation in males X-linked sideroblastic anaemia

artículo científico publicado en 2016

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections

artículo científico publicado en 2014

Male limited association of the dopamine receptor D2 gene TaqI a polymorphism and alcohol dependence

artículo científico publicado en 2002

Management of suspected monogenic lung fibrosis in a specialised centre

artículo científico publicado en 2017

Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria

artículo científico publicado en 2015

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.

artículo científico publicado en 2003

Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

scientific article published on 20 December 2012

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

artículo científico publicado en 2017

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria

artículo científico publicado en 2005

Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.

artículo científico publicado en 1998

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria

scientific article published on 01 August 2000

Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis

artículo científico publicado en 1998

New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype

scientific article published on 01 June 2001

PXR-ALAS1: a key regulatory pathway in liver toxicity induced by isoniazid-rifampicin antituberculosis treatment

artículo científico publicado en 2013

Porphyrias

artículo científico publicado en 2010

Porphyrias and haem related disorders

artículo científico publicado en 2016

Porphyrias: A 2015 update

artículo científico

Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse model

artículo científico publicado en 2011

Reappraisal of the association between the DRD2 gene, alcoholism and addiction

artículo científico publicado en 2000

Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites.

artículo científico publicado en 2014

Regulation of Human B19 Parvovirus Promoter Expression by hGABP (E4TF1) Transcription Factor ⬇️

artículo científico publicado el 3 de abril de 1998

Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1

scientific article published on 30 January 2019

Reply

artículo científico publicado en 2016

Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria ⬇️

artículo científico publicado el 1 de junio de 1998

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

artículo científico publicado en 2012

TSPO2 translocates 5-aminolevulinic acid into human erythroleukemia cells

artículo científico publicado en 2020

The 3' region of the DRD2 gene is involved in genetic susceptibility to schizophrenia

artículo científico publicado en 2004

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

artículo científico publicado en 2015

The genetics of addiction: alcohol-dependence and D3 dopamine receptor gene

artículo científico publicado en 2001

The molecular genetics of erythropoietic protoporphyria.

artículo científico publicado en 2009

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

scientific article published on 20 December 2001

Urinary Metabolic Fingerprint of Acute Intermittent Porphyria Analyzed by 1H NMR Spectroscopy

artículo científico publicado en 2014

Very low prevalence of iron deficiency among young French children: A national cross-sectional hospital-based survey

artículo científico publicado en 2017

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

scientific article published on 13 November 2012

Lista de obras de Laurent Gouya

A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease

A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes

A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria.

A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity

ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria

Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments.

Acute intermittent porphyria causes hepatic mitochondrial energetic failure in a mouse model

Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria

Association and excess of transmission of a DRD2 haplotype in a sample of French schizophrenic patients

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition

Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda.

Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in mice.

Erythrocyte Efferocytosis by the Arterial Wall Promotes Oxidation in Early-Stage Atheroma in Humans.

Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis

From tissue iron retention to low systemic haemoglobin levels, new pathophysiological biomarkers of human abdominal aortic aneurysm

Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene.

Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).

Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model

Hepcidin as a Major Component of Renal Antibacterial Defenses against Uropathogenic Escherichia coli

Hepcidin regulates intrarenal iron handling at the distal nephron.

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans

High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

Impulsiveness as the intermediate link between the dopamine receptor D2 gene and alcohol dependence

Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice

Influence of meteorological data on sun tolerance in patients with erythropoietic protoporphyria in France.

Inheritance in erythropoietic protoporphyria

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation

Iron refractory iron deficiency anemia

Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients.

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

Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly

Lethal ALAS2 mutation in males X-linked sideroblastic anaemia

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections

Male limited association of the dopamine receptor D2 gene TaqI a polymorphism and alcohol dependence

Management of suspected monogenic lung fibrosis in a specialised centre

Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.

Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

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

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria

Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria

Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis

New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype

PXR-ALAS1: a key regulatory pathway in liver toxicity induced by isoniazid-rifampicin antituberculosis treatment

Porphyrias

Porphyrias and haem related disorders

Porphyrias: A 2015 update

Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse model

Reappraisal of the association between the DRD2 gene, alcoholism and addiction

Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites.

Regulation of Human B19 Parvovirus Promoter Expression by hGABP (E4TF1) Transcription Factor ⬇️

Regulation of globin-heme balance in Diamond-Blackfan anemia by HSP70/GATA1

Reply

Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria ⬇️

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

TSPO2 translocates 5-aminolevulinic acid into human erythroleukemia cells

The 3' region of the DRD2 gene is involved in genetic susceptibility to schizophrenia

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

The genetics of addiction: alcohol-dependence and D3 dopamine receptor gene

The molecular genetics of erythropoietic protoporphyria.

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

Urinary Metabolic Fingerprint of Acute Intermittent Porphyria Analyzed by 1H NMR Spectroscopy

Very low prevalence of iron deficiency among young French children: A national cross-sectional hospital-based survey

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

[Hereditary porphyrias and heme related disorders]