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Items: 1 to 50 of 155

1.

Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria).

Lefebvre T, Millot S, Richard E, Blouin JM, Lalanne M, Lamrissi-Garcia I, Costet P, Lyoumi S, Gouya L, Puy H, Moreau-Gaudry F, de Verneuil H, Karim Z, Ged C.

Biochem Biophys Res Commun. 2019 Dec 3;520(2):297-303. doi: 10.1016/j.bbrc.2019.09.141. Epub 2019 Oct 7.

PMID:
31601421
2.

Extrahepatic hepcidin production: The intriguing outcomes of recent years.

Daher R, Lefebvre T, Puy H, Karim Z.

World J Clin Cases. 2019 Aug 6;7(15):1926-1936. doi: 10.12998/wjcc.v7.i15.1926. Review.

3.

Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria.

Parker CJ, Desnick RJ, Bissel MD, Bloomer JR, Singal A, Gouya L, Puy H, Anderson KE, Balwani M, Phillips JD.

Mol Genet Metab. 2019 Jul 31. pii: S1096-7192(18)30575-4. doi: 10.1016/j.ymgme.2019.07.017. [Epub ahead of print]

PMID:
31395332
4.

A variant erythroferrone disrupts iron homeostasis in SF3B1-mutated myelodysplastic syndrome.

Bondu S, Alary AS, Lefèvre C, Houy A, Jung G, Lefebvre T, Rombaut D, Boussaid I, Bousta A, Guillonneau F, Perrier P, Alsafadi S, Wassef M, Margueron R, Rousseau A, Droin N, Cagnard N, Kaltenbach S, Winter S, Kubasch AS, Bouscary D, Santini V, Toma A, Hunault M, Stamatoullas A, Gyan E, Cluzeau T, Platzbecker U, Adès L, Puy H, Stern MH, Karim Z, Mayeux P, Nemeth E, Park S, Ganz T, Kautz L, Kosmider O, Fontenay M.

Sci Transl Med. 2019 Jul 10;11(500). pii: eaav5467. doi: 10.1126/scitranslmed.aav5467.

PMID:
31292266
5.

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.

Chen B, Whatley S, Badminton M, Aarsand AK, Anderson KE, Bissell DM, Bonkovsky HL, Cappellini MD, Floderus Y, Friesema ECH, Gouya L, Harper P, Kauppinen R, Loskove Y, Martásek P, Phillips JD, Puy H, Sandberg S, Schmitt C, To-Figueras J, Weiss Y, Yasuda M, Deybach JC, Desnick RJ.

Genet Med. 2019 Nov;21(11):2605-2613. doi: 10.1038/s41436-019-0537-7. Epub 2019 May 10.

PMID:
31073229
6.

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

Peoc'h K, Nicolas G, Schmitt C, Mirmiran A, Daher R, Lefebvre T, Gouya L, Karim Z, Puy H.

Mol Genet Metab. 2019 Jan 23. pii: S1096-7192(18)30632-2. doi: 10.1016/j.ymgme.2019.01.015. [Epub ahead of print] Review.

PMID:
30737140
7.

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

Mirmiran A, Schmitt C, Lefebvre T, Manceau H, Daher R, Oustric V, Poli A, Lacapère JJ, Moulouel B, Puy H, Karim Z, Peoc'h K, Lenglet H, Simonin S, Deybach JC, Nicolas G, Gouya L.

Am J Hum Genet. 2019 Feb 7;104(2):341-347. doi: 10.1016/j.ajhg.2018.12.021. Epub 2019 Jan 31.

8.

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

Rio S, Gastou M, Karboul N, Derman R, Suriyun T, Manceau H, Leblanc T, El Benna J, Schmitt C, Azouzi S, Larghéro J, Karim Z, Macias-Garcia A, Chen JJ, Hermine O, Courtois G, Puy H, Gouya L, Mohandas N, Da Costa L.

Blood. 2019 Mar 21;133(12):1358-1370. doi: 10.1182/blood-2018-09-875674. Epub 2019 Jan 30.

PMID:
30700418
9.

The Relevancy of Data Regarding the Metabolism of Iron to Our Understanding of Deregulated Mechanisms in ALS; Hypotheses and Pitfalls.

Petillon C, Hergesheimer R, Puy H, Corcia P, Vourc'h P, Andres C, Karim Z, Blasco H.

Front Neurosci. 2019 Jan 15;12:1031. doi: 10.3389/fnins.2018.01031. eCollection 2018. Review.

10.

GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.

Daher R, Mansouri A, Martelli A, Bayart S, Manceau H, Callebaut I, Moulouel B, Gouya L, Puy H, Kannengiesser C, Karim Z.

Mol Genet Metab. 2019 Jan 7. pii: S1096-7192(18)30633-4. doi: 10.1016/j.ymgme.2018.12.012. [Epub ahead of print]

PMID:
30660387
11.

Systemic Administered mRNA as Therapy for Metabolic Diseases.

Puy H, Deybach JC, Gouya L.

Trends Mol Med. 2019 Jan;25(1):3-5. doi: 10.1016/j.molmed.2018.11.003. Epub 2018 Dec 6.

PMID:
30528119
12.

Iron deficiency diagnosed using hepcidin on critical care discharge is an independent risk factor for death and poor quality of life at one year: an observational prospective study on 1161 patients.

Lasocki S, Lefebvre T, Mayeur C, Puy H, Mebazaa A, Gayat E; FROG-ICU study group.

Crit Care. 2018 Nov 21;22(1):314. doi: 10.1186/s13054-018-2253-0.

13.

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword.

Peoc'h K, Manceau H, Karim Z, Wahlin S, Gouya L, Puy H, Deybach JC.

Mol Genet Metab. 2018 Oct 9. pii: S1096-7192(18)30482-7. doi: 10.1016/j.ymgme.2018.10.001. [Epub ahead of print]

PMID:
30413387
14.

Dyserythropoiesis evaluated by the RED score and hepcidin:ferritin ratio predicts response to erythropoietin in lower-risk myelodysplastic syndromes.

Park S, Kosmider O, Maloisel F, Drenou B, Chapuis N, Lefebvre T, Karim Z, Puy H, Alary AS, Ducamp S, Verdier F, Bouilloux C, Rousseau A, Jacob MC, Debliquis A, Charpentier A, Gyan E, Anglaret B, Leyronnas C, Corm S, Slama B, Cheze S, Laribi K, Amé S, Rose C, Lachenal F, Toma A, Pica GM, Carre M, Garban F, Mariette C, Cahn JY, Meunier M, Herault O, Fenaux P, Wagner-Ballon O, Bardet V, Dreyfus F, Fontenay M.

Haematologica. 2019 Mar;104(3):497-504. doi: 10.3324/haematol.2018.203158. Epub 2018 Oct 4.

15.

Functional erythropoietin-hepcidin axis in recombinant human erythropoietin independent haemodialysis patients.

Touzot M, Lefebvre T, Roux A, Maheas C, Ridel C, Puy H, Karim Z.

Nephrology (Carlton). 2019 Jul;24(7):751-757. doi: 10.1111/nep.13485. Epub 2019 Apr 25.

PMID:
30175513
16.

Characterization and origin of heme precursors in amniotic fluid: lessons from normal and pathological pregnancies.

Manceau H, Puy V, Schmitt CM, Gil S, Lefebvre T, Allaf B, Rosenblatt J, Gouya L, Puy H, Muller F, Peoc'h K.

Pediatr Res. 2018 Jul;84(1):80-84. doi: 10.1038/s41390-018-0011-2. Epub 2018 May 23.

PMID:
29795201
17.

High urinary ferritin reflects myoglobin iron evacuation in DMD patients.

Rouillon J, Lefebvre T, Denard J, Puy V, Daher R, Ausseil J, Zocevic A, Fogel P, Peoc'h K, Wong B, Servais L, Voit T, Puy H, Karim Z, Svinartchouk F.

Neuromuscul Disord. 2018 Jul;28(7):564-571. doi: 10.1016/j.nmd.2018.03.008. Epub 2018 Mar 20.

18.

Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia.

Thompson AA, Walters MC, Kwiatkowski J, Rasko JEJ, Ribeil JA, Hongeng S, Magrin E, Schiller GJ, Payen E, Semeraro M, Moshous D, Lefrere F, Puy H, Bourget P, Magnani A, Caccavelli L, Diana JS, Suarez F, Monpoux F, Brousse V, Poirot C, Brouzes C, Meritet JF, Pondarré C, Beuzard Y, Chrétien S, Lefebvre T, Teachey DT, Anurathapan U, Ho PJ, von Kalle C, Kletzel M, Vichinsky E, Soni S, Veres G, Negre O, Ross RW, Davidson D, Petrusich A, Sandler L, Asmal M, Hermine O, De Montalembert M, Hacein-Bey-Abina S, Blanche S, Leboulch P, Cavazzana M.

N Engl J Med. 2018 Apr 19;378(16):1479-1493. doi: 10.1056/NEJMoa1705342.

19.

Porphyria and kidney diseases.

Pallet N, Karras A, Thervet E, Gouya L, Karim Z, Puy H.

Clin Kidney J. 2018 Apr;11(2):191-197. doi: 10.1093/ckj/sfx146. Epub 2018 Jan 10.

20.

Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.

Schmitt C, Lenglet H, Yu A, Delaby C, Benecke A, Lefebvre T, Letteron P, Paradis V, Wahlin S, Sandberg S, Harper P, Sardh E, Sandvik AK, Hov JR, Aarsand AK, Chiche L, Bazille C, Scoazec JY, To-Figueras J, Carrascal M, Abian J, Mirmiran A, Karim Z, Deybach JC, Puy H, Peoc'h K, Manceau H, Gouya L.

J Intern Med. 2018 Jul;284(1):78-91. doi: 10.1111/joim.12750. Epub 2018 Mar 26.

PMID:
29498764
21.

Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm.

Luck M, Schmitt C, Talbi N, Gouya L, Caradeuc C, Puy H, Bertho G, Pallet N.

Metabolomics. 2018;14(1):10. doi: 10.1007/s11306-017-1305-9. Epub 2017 Dec 4. Erratum in: Metabolomics. 2018 Jan 30;14(3):21.

22.

Correction to: Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm.

Luck M, Schmitt C, Talbi N, Gouya L, Caradeuc C, Puy H, Bertho G, Pallet N.

Metabolomics. 2018 Jan 30;14(3):21. doi: 10.1007/s11306-018-1320-5.

23.

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

Lenglet H, Schmitt C, Grange T, Manceau H, Karboul N, Bouchet-Crivat F, Robreau AM, Nicolas G, Lamoril J, Simonin S, Mirmiran A, Karim Z, Casalino E, Deybach JC, Puy H, Peoc'h K, Gouya L.

Hum Mol Genet. 2018 Apr 1;27(7):1164-1173. doi: 10.1093/hmg/ddy030.

PMID:
29360981
24.

Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease.

Lefebvre T, Reihani N, Daher R, de Villemeur TB, Belmatoug N, Rose C, Colin-Aronovicz Y, Puy H, Le Van Kim C, Franco M, Karim Z.

Haematologica. 2018 Apr;103(4):587-596. doi: 10.3324/haematol.2017.177816. Epub 2018 Jan 5.

25.

Impact of iron deficiency diagnosis using hepcidin mass spectrometry dosage methods on hospital stay and costs after a prolonged ICU stay: Study protocol for a multicentre, randomised, single-blinded medico-economic trial.

Lasocki S, Puy H, Mercier G, Lehmann S; Hepcidane study group.

Anaesth Crit Care Pain Med. 2017 Dec;36(6):391-396. doi: 10.1016/j.accpm.2017.04.009. Epub 2017 Sep 14.

PMID:
28919067
26.

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

Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH.

Proc Natl Acad Sci U S A. 2017 Sep 19;114(38):E8045-E8052. doi: 10.1073/pnas.1700632114. Epub 2017 Sep 5.

27.

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

Van Aelst LNL, Abraham M, Sadoune M, Lefebvre T, Manivet P, Logeart D, Launay JM, Karim Z, Puy H, Cohen-Solal A.

Eur J Heart Fail. 2017 Aug;19(8):1075-1076. doi: 10.1002/ejhf.837. Epub 2017 May 17. No abstract available.

28.

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

de Montalembert M, Ribeil JA, Brousse V, Guerci-Bresler A, Stamatoullas A, Vannier JP, Dumesnil C, Lahary A, Touati M, Bouabdallah K, Cavazzana M, Chauzit E, Baptiste A, Lefebvre T, Puy H, Elie C, Karim Z, Ernst O, Rose C.

PLoS One. 2017 Mar 3;12(3):e0172147. doi: 10.1371/journal.pone.0172147. eCollection 2017.

29.

Gene Therapy in a Patient with Sickle Cell Disease.

Ribeil JA, Hacein-Bey-Abina S, Payen E, Magnani A, Semeraro M, Magrin E, Caccavelli L, Neven B, Bourget P, El Nemer W, Bartolucci P, Weber L, Puy H, Meritet JF, Grevent D, Beuzard Y, Chrétien S, Lefebvre T, Ross RW, Negre O, Veres G, Sandler L, Soni S, de Montalembert M, Blanche S, Leboulch P, Cavazzana M.

N Engl J Med. 2017 Mar 2;376(9):848-855. doi: 10.1056/NEJMoa1609677.

30.

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

Millot S, Delaby C, Moulouel B, Lefebvre T, Pilard N, Ducrot N, Ged C, Lettéron P, de Franceschi L, Deybach JC, Beaumont C, Gouya L, De Verneuil H, Lyoumi S, Puy H, Karim Z.

Haematologica. 2017 Feb;102(2):260-270. doi: 10.3324/haematol.2016.151621. Epub 2016 Nov 10.

31.

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

Manceau H, Gouya L, Puy H.

Curr Opin Hematol. 2017 May;24(3):198-207. doi: 10.1097/MOH.0000000000000330. Review.

PMID:
28118224
32.

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

Tchernitchko D, Tavernier Q, Lamoril J, Schmitt C, Talbi N, Lyoumi S, Robreau AM, Karim Z, Gouya L, Thervet E, Karras A, Puy H, Pallet N.

J Am Soc Nephrol. 2017 Jun;28(6):1924-1932. doi: 10.1681/ASN.2016080918. Epub 2016 Dec 28.

33.

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

Fratz-Berilla EJ, Breydo L, Gouya L, Puy H, Uversky VN, Ferreira GC.

Biochim Biophys Acta Mol Basis Dis. 2017 Feb;1863(2):428-439. doi: 10.1016/j.bbadis.2016.11.011. Epub 2016 Nov 10.

34.

Fecal calprotectin in inflammatory bowel diseases: update and perspectives.

Manceau H, Chicha-Cattoir V, Puy H, Peoc'h K.

Clin Chem Lab Med. 2017 Mar 1;55(4):474-483. doi: 10.1515/cclm-2016-0522. Review.

35.

Reply.

Karim Z, Puy H, Beaumont C, Gouya L, Kannengiesser C.

Gastroenterology. 2016 Oct;151(4):771-2. doi: 10.1053/j.gastro.2016.09.002. Epub 2016 Sep 10. No abstract available.

PMID:
27623323
36.

GNPAT polymorphism rs11558492 is not associated with increased severity in a large cohort of HFE p.Cys282Tyr homozygous patients.

Tchernitchko D, Scotet V, Lefebvre T, L'Hostis C, Gourlaouen I, Merour MC, Rebah K, Peoc'h K, Assari S, Ferec C, Puy H, Le Gac G.

Hepatology. 2017 Mar;65(3):1069-1071. doi: 10.1002/hep.28742. Epub 2016 Oct 6. No abstract available.

PMID:
27474861
37.

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

de Bataille S, Dutartre H, Puy H, Deybach JC, Gouya L, Raffray E, Pithon M, Stalder JF, Nguyen JM, Barbarot S.

Br J Dermatol. 2016 Oct;175(4):768-75. doi: 10.1111/bjd.14600. Epub 2016 Jul 13.

PMID:
27030101
38.

Rare microcytic anemias.

Puy H, Manceau H, Karim Z, Kan-Nengiesser C.

Bull Acad Natl Med. 2016 Feb;200(2):335-347.

PMID:
29898329
39.

[Porphyrias and haem related disorders].

Peoc'h K, Martin-Schmitt C, Talbi N, Deybach JC, Gouya L, Puy H.

Rev Med Interne. 2016 Mar;37(3):173-85. doi: 10.1016/j.revmed.2015.12.005. Epub 2016 Jan 7. Review. French.

PMID:
26774916
40.

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

Lasocki S, Piednoir P, Couffignal C, Rineau E, Dufour G, Lefebvre T, Puy H, Duval X, Driss F, Schilte C.

Crit Care Med. 2016 Mar;44(3):521-30. doi: 10.1097/CCM.0000000000001420.

PMID:
26605680
41.

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

Daher R, Kannengiesser C, Houamel D, Lefebvre T, Bardou-Jacquet E, Ducrot N, de Kerguenec C, Jouanolle AM, Robreau AM, Oudin C, Le Gac G, Moulouel B, Loustaud-Ratti V, Bedossa P, Valla D, Gouya L, Beaumont C, Brissot P, Puy H, Karim Z, Tchernitchko D.

Gastroenterology. 2016 Mar;150(3):672-683.e4. doi: 10.1053/j.gastro.2015.10.049. Epub 2015 Nov 12.

42.

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

Fratz EJ, Clayton J, Hunter GA, Ducamp S, Breydo L, Uversky VN, Deybach JC, Gouya L, Puy H, Ferreira GC.

Biochemistry. 2015 Sep 15;54(36):5617-31. doi: 10.1021/acs.biochem.5b00407. Epub 2015 Sep 2.

43.

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

Houamel D, Ducrot N, Lefebvre T, Daher R, Moulouel B, Sari MA, Letteron P, Lyoumi S, Millot S, Tourret J, Bouvet O, Vaulont S, Vandewalle A, Denamur E, Puy H, Beaumont C, Gouya L, Karim Z.

J Am Soc Nephrol. 2016 Mar;27(3):835-46. doi: 10.1681/ASN.2014101035. Epub 2015 Aug 20.

44.

Porphyrias: A 2015 update.

Karim Z, Lyoumi S, Nicolas G, Deybach JC, Gouya L, Puy H.

Clin Res Hepatol Gastroenterol. 2015 Sep;39(4):412-25. doi: 10.1016/j.clinre.2015.05.009. Epub 2015 Jul 2. Review.

PMID:
26142871
45.

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

Homedan C, Schmitt C, Laafi J, Gueguen N, Desquiret-Dumas V, Lenglet H, Karim Z, Gouya L, Deybach JC, Simard G, Puy H, Malthièry Y, Reynier P.

Hum Mol Genet. 2015 Sep 1;24(17):5015-23. doi: 10.1093/hmg/ddv222. Epub 2015 Jun 12.

PMID:
26071363
46.

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

Pallet N, Mami I, Schmitt C, Karim Z, François A, Rabant M, Nochy D, Gouya L, Deybach JC, Xu-Dubois Y, Thervet E, Puy H, Karras A.

Kidney Int. 2015 Aug;88(2):386-95. doi: 10.1038/ki.2015.97. Epub 2015 Apr 1.

47.

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

Lefebvre T, Dessendier N, Houamel D, Ialy-Radio N, Kannengiesser C, Manceau H, Beaumont C, Nicolas G, Gouya L, Puy H, Karim Z.

Clin Chem Lab Med. 2015 Sep 1;53(10):1557-67. doi: 10.1515/cclm-2014-1093.

PMID:
25781546
48.

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

Martelli A, Schmucker S, Reutenauer L, Mathieu JRR, Peyssonnaux C, Karim Z, Puy H, Galy B, Hentze MW, Puccio H.

Cell Metab. 2015 Feb 3;21(2):311-323. doi: 10.1016/j.cmet.2015.01.010.

49.

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

Poté N, Cauchy F, Albuquerque M, Voitot H, Belghiti J, Castera L, Puy H, Bedossa P, Paradis V.

J Hepatol. 2015 Apr;62(4):848-54. doi: 10.1016/j.jhep.2014.11.005. Epub 2014 Nov 11.

PMID:
25450201
50.

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

Smith CM, Jerkovic A, Puy H, Winship I, Deybach JC, Gouya L, van Dooren G, Goodman CD, Sturm A, Manceau H, McFadden GI, David P, Mercereau-Puijalon O, Burgio G, McMorran BJ, Foote SJ.

Blood. 2015 Jan 15;125(3):534-41. doi: 10.1182/blood-2014-04-567149. Epub 2014 Nov 20.

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