List of works - Laurent Gouya

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

scientific article

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

scientific article published on 6 February 2010

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

scientific article

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

scientific article published on 14 November 2012

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

scientific article published on 13 July 2011

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

scientific article

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

scientific article published on 21 January 2017

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

scientific article published on 13 April 2014

Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria

scientific article published on 27 March 2014

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on March 1998

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

scientific article published in December 2013

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

scientific article published on 2 August 2017

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

scientific article published on 01 January 1999

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

scientific article published on 6 March 2014

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

scientific article published on 18 November 2006

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

scientific article published in February 2002

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

scientific article

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

scientific article published on 20 August 2015

Hepcidin regulates intrarenal iron handling at the distal nephron.

scientific article published on 24 April 2013

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

scientific article published on 12 November 2015

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

scientific article published on April 2015

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

scientific article published in April 2017

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

scientific article published on 31 August 2016

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

scientific article

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

scientific article

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

scientific article

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.

scientific article

Inheritance in erythropoietic protoporphyria

scientific article published on 20 September 2010

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

scientific article (publication date: 15 March 1999)

Iron refractory iron deficiency anemia

scientific article published on June 2013

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

scientific article

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

scientific article published on 9 March 2015

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

scientific article published on 06 December 2012

Lethal ALAS2 mutation in males X-linked sideroblastic anaemia

scientific article published on 13 June 2016

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

scientific article

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

scientific article published in November 2002

Management of suspected monogenic lung fibrosis in a specialised centre

scientific article

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

scientific article published on 12 June 2015

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

scientific article published on 11 December 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

scientific article published on 5 September 2017

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

scientific article

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

scientific article published in September 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

scientific article

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

scientific article

Porphyrias

scientific article published on 01 March 2010

Porphyrias and haem related disorders

scientific article published on 7 January 2016

Porphyrias: A 2015 update

scientific article published on July 2015

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

scientific article published on 14 July 2011

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

scientific article published in March 2000

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

scientific article

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

scientific article published on April 3, 1998

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

scientific article published on 30 January 2019

Reply

scientific article published on 10 September 2016

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

scientific article published on June 1, 1998

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

scientific article

TSPO2 translocates 5-aminolevulinic acid into human erythroleukemia cells

scientific article published on 05 February 2020

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

scientific article published in March 2004

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

scientific article published on 04 February 2015

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

scientific article published in November 2001

The molecular genetics of erythropoietic protoporphyria.

scientific article published on July 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

scientific article published on 30 January 2014

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

scientific article published on 3 May 2017

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

scientific article published on 13 November 2012

List of works by 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]