Lista de obras - Hervé Puy - Dominio Público Uruguay

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

artículo científico publicado en 2016

A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma

artículo científico publicado en 2010

A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases.

artículo científico publicado en 2012

A mouse model provides evidence that genetic background modulates anemia and liver injury in erythropoietic protoporphyria

artículo científico publicado en 2005

ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis

artículo científico publicado en 2012

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: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France

scientific article published on 01 September 1997

Acute porphyric attack mimicking HIV-associated progressive polyradiculoneuropathy

scientific article published on 22 April 2011

An uncommon option for surviving bariatric surgery: regaining weight!

artículo científico publicado en 2012

Analytical correlation between plasma N-terminal pro-brain natriuretic peptide and brain natriuretic peptide in patients presenting with dyspnea

artículo científico publicado en 2004

Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.

artículo científico publicado en 2002

Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria

artículo científico publicado en 2014

Biochemical compared to molecular diagnosis in acute intermittent porphyria

scientific article published on 01 February 2006

Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndrome

artículo científico publicado en 2017

Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda

scientific article published on 14 December 2011

Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.

artículo científico publicado en 2012

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

artículo científico publicado en 2005

Decreased nocturnal plasma melatonin levels in patients with recurrent acute intermittent porphyria attacks

scientific article published on 01 January 1993

Detection of four novel mutations in the porphobilinogen deaminase gene in French Caucasian patients with acute intermittent porphyria

artículo científico publicado en 1996

Diagnostic accuracy of serum hepcidin for iron deficiency in critically ill patients with anemia

artículo científico publicado en 2010

Does IV Iron Induce Plasma Oxidative Stress in Critically Ill Patients? A Comparison With Healthy Volunteers

artículo científico publicado en 2016

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

Erythropoietic protoporphyria

artículo científico publicado en 2009

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

artículo científico publicado en 1999

Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria

artículo científico publicado en 1998

Fecal calprotectin in inflammatory bowel diseases: update and perspectives.

artículo científico publicado en 2016

GNPATpolymorphism rs11558492 is not associated with increased severity in a large cohort ofHFEp.Cys282Tyr homozygous patients

artículo científico publicado en 2016

Gene Therapy in a Patient with Sickle Cell Disease

artículo científico publicado en 2017

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

artículo científico publicado en 2006

Heme and acute inflammation role in vivo of heme in the hepatic expression of positive acute-phase reactants in rats

scientific article published on 01 April 1999

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

artículo científico publicado en 2016

Hepatic porphyria

artículo científico publicado en 1999

Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors.

artículo científico publicado en 2000

Hepatocellular carcinoma without cirrhosis: think acute hepatic porphyrias and vice versa

artículo científico publicado en 2011

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

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 a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria

artículo científico publicado en 2000

Immunological specificity of monoclonal antibodies to Chlamydia psittaci ovine abortion strain.

artículo científico publicado en 1990

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

Iron Regulatory Proteins Secure Mitochondrial Iron Sufficiency and Function

Iron metabolism in patients with anorexia nervosa: elevated serum hepcidin concentrations in the absence of inflammation

artículo científico publicado en 2012

Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency.

artículo científico publicado en 2015

Iron status and inflammatory biomarkers in patients with acutely decompensated heart failure: early in-hospital phase and 30-day follow-up

artículo científico publicado en 2017

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

artículo científico publicado en 2016

KDBI: Kinetic Data of Bio-molecular Interactions database.

artículo científico publicado en 2003

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

Loss of heterozygosity on 10q and mutational status of PTEN and BMPR1A in colorectal primary tumours and metastases

artículo científico publicado en 2004

Melatonin and environmental lighting regulate ALA-S gene expression and So porphyrin biosynthesis in the rat harderian gland

artículo científico publicado en 2008

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 abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria.

artículo científico publicado en 1995

Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.

artículo científico publicado en 1997

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

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

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria

scientific article published on 01 December 1999

Nitric oxide synthase inhibition and the induction of cytochrome P-450 affect heme oxygenase-1 messenger RNA expression after partial hepatectomy and acute inflammation in rats

artículo científico publicado en 1998

Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior

artículo científico publicado en 2012

Performance of PIVKA-II for early hepatocellular carcinoma diagnosis and prediction of microvascular invasion

artículo científico publicado en 2014

Plasma N-terminal pro-brain natriuretic peptide and brain natriuretic peptide in assessment of acute dyspnea

artículo científico publicado en 2005

Porphobilinogen deaminase gene structure and molecular defects ⬇️

artículo científico publicado el 1 de abril de 1995

Porphyrias and haem related disorders

artículo científico publicado en 2016

Porphyrias: A 2015 update

artículo científico

Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells.

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

Review: molecular pathogenesis of hepatic acute porphyrias.

artículo científico publicado en 1996

Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients

artículo científico publicado en 2009

Sequential regulation of ferroportin expression after erythrophagocytosis in murine macrophages: early mRNA induction by haem, followed by iron-dependent protein expression

artículo científico publicado en 2008

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations

artículo científico publicado en 2011

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

artículo científico publicado el 1 de junio de 1998

TSPO2 translocates 5-aminolevulinic acid into human erythroleukemia cells

artículo científico publicado en 2020

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

scientific article published on 20 December 2001

Thyroid hormone extraction by plasma exchange: a study of extraction rate

artículo científico publicado en 1992

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

artículo científico publicado en 2014

Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation

artículo científico publicado en 1999

Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins

artículo científico publicado en 1995

[Diagnosis of hypochromic microcytic anemia in children]

artículo científico publicado en 2012

[Intermittent acute porphyria: a metabolic emergency]

artículo científico publicado en 2009

Lista de obras de Hervé Puy

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

A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma

A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases.

A mouse model provides evidence that genetic background modulates anemia and liver injury in erythropoietic protoporphyria

ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis

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

Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France

Acute porphyric attack mimicking HIV-associated progressive polyradiculoneuropathy

An uncommon option for surviving bariatric surgery: regaining weight!

Analytical correlation between plasma N-terminal pro-brain natriuretic peptide and brain natriuretic peptide in patients presenting with dyspnea

Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.

Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria

Biochemical compared to molecular diagnosis in acute intermittent porphyria

Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndrome

Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda

Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.

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

Decreased nocturnal plasma melatonin levels in patients with recurrent acute intermittent porphyria attacks

Detection of four novel mutations in the porphobilinogen deaminase gene in French Caucasian patients with acute intermittent porphyria

Diagnostic accuracy of serum hepcidin for iron deficiency in critically ill patients with anemia

Does IV Iron Induce Plasma Oxidative Stress in Critically Ill Patients? A Comparison With Healthy Volunteers

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.

Erythropoietic protoporphyria

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

Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria

Fecal calprotectin in inflammatory bowel diseases: update and perspectives.

GNPATpolymorphism rs11558492 is not associated with increased severity in a large cohort ofHFEp.Cys282Tyr homozygous patients

Gene Therapy in a Patient with Sickle Cell Disease

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

Heme and acute inflammation role in vivo of heme in the hepatic expression of positive acute-phase reactants in rats

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

Hepatic porphyria

Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors.

Hepatocellular carcinoma without cirrhosis: think acute hepatic porphyrias and vice versa

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

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

Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria

Immunological specificity of monoclonal antibodies to Chlamydia psittaci ovine abortion strain.

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.

Iron Regulatory Proteins Secure Mitochondrial Iron Sufficiency and Function

Iron metabolism in patients with anorexia nervosa: elevated serum hepcidin concentrations in the absence of inflammation

Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency.

Iron status and inflammatory biomarkers in patients with acutely decompensated heart failure: early in-hospital phase and 30-day follow-up

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

KDBI: Kinetic Data of Bio-molecular Interactions database.

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

Loss of heterozygosity on 10q and mutational status of PTEN and BMPR1A in colorectal primary tumours and metastases

Melatonin and environmental lighting regulate ALA-S gene expression and So porphyrin biosynthesis in the rat harderian gland

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 abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria.

Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.

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

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.

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria

Nitric oxide synthase inhibition and the induction of cytochrome P-450 affect heme oxygenase-1 messenger RNA expression after partial hepatectomy and acute inflammation in rats

Null alleles of ABCG2 encoding the breast cancer resistance protein define the new blood group system Junior

Performance of PIVKA-II for early hepatocellular carcinoma diagnosis and prediction of microvascular invasion

Plasma N-terminal pro-brain natriuretic peptide and brain natriuretic peptide in assessment of acute dyspnea

Porphobilinogen deaminase gene structure and molecular defects ⬇️

Porphyrias and haem related disorders

Porphyrias: A 2015 update

Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells.

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

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

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

Reply

Review: molecular pathogenesis of hepatic acute porphyrias.

Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients

Sequential regulation of ferroportin expression after erythrophagocytosis in murine macrophages: early mRNA induction by haem, followed by iron-dependent protein expression

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations

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