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List of works by Hervé Puy

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

scientific article

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

scientific article published on 01 November 2010

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

scientific article

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

scientific article published on 27 January 2005

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

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: 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!

scientific article published on 13 July 2012

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

scientific article published in October 2004

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

scientific article

Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria

scientific article published on 27 March 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

scientific article

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.

scientific article published on 18 September 2012

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

scientific article

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

scientific article published on 01 May 1996

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

scientific article published on 6 March 2010

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

scientific article published on 01 March 2016

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

Erythropoietic protoporphyria

scientific article

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

scientific article published on 01 January 1999

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

scientific article published on 01 November 1998

Fecal calprotectin in inflammatory bowel diseases: update and perspectives.

scientific article published on 22 September 2016

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

scientific article published on 6 October 2016

Gene Therapy in a Patient with Sickle Cell Disease

scientific article published on March 2017

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

scientific article published on 18 November 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

scientific article

Hepatic porphyria

scientific article published on April 1999

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

scientific article published in June 2000

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

scientific article published on 21 March 2011

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

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

scientific article

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

scientific article published on 01 July 2000

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

scientific article published on January 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.

scientific article

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

scientific article published on 01 February 2012

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

scientific article published on February 2015

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

scientific article published on 17 May 2017

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

scientific article

KDBI: Kinetic Data of Bio-molecular Interactions database.

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

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

scientific article published on March 2004

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

scientific article published in November 2008

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 abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria.

scientific article

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

scientific article

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

scientific article

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

scientific article published in September 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

scientific article published on 01 October 1998

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

scientific article published on 15 January 2012

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

scientific article published on 11 November 2014

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

scientific article published on 20 January 2005

Porphobilinogen deaminase gene structure and molecular defects ⬇️

scientific article published on April 1, 1995

Porphyrias and haem related disorders

scientific article published on 7 January 2016

Porphyrias: A 2015 update

scientific article published on July 2015

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

scientific article

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

scientific article published on 14 July 2011

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

scientific article

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

Review: molecular pathogenesis of hepatic acute porphyrias.

scientific article

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

scientific article published on 23 April 2009

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

scientific article

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

scientific article published on 24 February 2011

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

scientific article published on June 1, 1998

TSPO2 translocates 5-aminolevulinic acid into human erythroleukemia cells

scientific article published on 05 February 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

scientific article published on 01 January 1992

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

scientific article published on 30 January 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

scientific article

Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins

scientific article published on 01 July 1995

[Diagnosis of hypochromic microcytic anemia in children]

scientific article published on 05 February 2012

[Intermittent acute porphyria: a metabolic emergency]

scientific article published on 23 February 2009

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