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1.

Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of erythropoietic protoporphyria.

Halloy, François; Iyer, Pavithra S; Cwiek, Paulina; Ghidini, Alice; Barman-Aksözen, Jasmin; Wildner-Verhey van Wijk, Nicole; Theocharides, Alexandre P A; Minder, Elisabeth I; Schneider-Yin, Xiaoye; Schümperli, Daniel; Hall, Jonathan.

Nucleic Acids Res ; 48(9): 4658-4671, 2020 05 21.

Artículo en Inglés | MEDLINE | ID: mdl-32313951

2.

Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.

Barman-Aksözen, Jasmin; Halloy, Francois; Iyer, Pavithra S; Schümperli, Daniel; Minder, Anna Elisabeth; Hall, Jonathan; Minder, Elisabeth I; Schneider-Yin, Xiaoye.

Mol Genet Metab ; 128(3): 304-308, 2019 11.

Artículo en Inglés | MEDLINE | ID: mdl-31076252

3.

A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.

Barman-Aksözen, Jasmin; Suter, Lukas; Wegmann, Franziska; Meienberg, Janine; Minder, Anna Elisabeth; Beer, Marc; Komminoth, Paul; Minder, Elisabeth I; Schneider-Yin, Xiaoye.

Scand J Clin Lab Invest ; 79(5): 305-313, 2019 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-31154864

4.

[Porphyria - when to think about how to clarify and treat?] / Porphyrien wann daran denken, wie abklären und behandeln?

Minder, Anna E; Barman-Aksözen, Jasmin; Zulewski, Henryk; Schneider-Yin, Xiaoye; Minder, Elisabeth I.

Ther Umsch ; 75(4): 225-233, 2018 Nov.

Artículo en Alemán | MEDLINE | ID: mdl-30468116

5.

Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.

Barman-Aksoezen, Jasmin; Girelli, Domenico; Aurizi, Caterina; Schneider-Yin, Xiaoye; Campostrini, Natascia; Barbieri, Luca; Minder, Elisabeth I; Biolcati, Gianfranco.

J Inherit Metab Dis ; 40(3): 433-441, 2017 05.

Artículo en Inglés | MEDLINE | ID: mdl-28185024

6.

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

Ducamp, Sarah; Schneider-Yin, Xiaoye; de Rooij, Felix; Clayton, Jerome; Fratz, Erica J; Rudd, Alice; Ostapowicz, George; Varigos, George; Lefebvre, Thibaud; Deybach, Jean-Charles; Gouya, Laurent; Wilson, Paul; Ferreira, Gloria C; Minder, Elisabeth I; Puy, Hervé.

Hum Mol Genet ; 22(7): 1280-8, 2013 Apr 01.

Artículo en Inglés | MEDLINE | ID: mdl-23263862

7.

Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.

Schneider-Yin, Xiaoye; van Tuyll van Serooskerken, Anne-Moon; Siegesmund, Marko; Went, Philip; Barman-Aksözen, Jasmin; Bladergroen, Reno S; Komminoth, Paul; Cloots, Roy H E; Winnepenninckx, Véronique J; zur Hausen, Axel; Weber, Markus; Driessen, Ann; Poblete-Gutiérrez, Pamela; Bauer, Peter; Schroeder, Christopher; van Geel, Michel; Minder, Elisabeth I; Frank, Jorge.

J Hepatol ; 62(3): 734-8, 2015 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-25445397

8.

In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability.

Barman-Aksözen, Jasmin; Minder, Elisabeth I; Schubiger, Carina; Biolcati, Gianfranco; Schneider-Yin, Xiaoye.

Blood Cells Mol Dis ; 54(1): 71-7, 2015 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-25179834

9.

Evaluation of the immunogenicity of the synthetic α-melanocyte-stimulating hormone (α-MSH) analogue afamelanotide ([Nle4-D-Phe7]-α-MSH, Scenesse®) in erythropoietic protoporphyria patients by ELISA detecting both anti-afamelanotide and anti-α-MSH antibodies.

Lengweiler, Stephan; Kreim, Saskia; Barman-Aksözen, Jasmin; Maurer, Marcus; Minder, Elisabeth I.

Skin Pharmacol Physiol ; 28(2): 103-13, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-25402764

10.

Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.).

Barman-Aksözen, Jasmin; Béguin, Chantal; Dogar, Afzal M; Schneider-Yin, Xiaoye; Minder, Elisabeth I.

Blood Cells Mol Dis ; 51(3): 151-61, 2013 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-23787363

11.

Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria.

Minder, Anna-Elisabeth; Schneider-Yin, Xiaoye; Zulewski, Henryk; Minder, Christoph E; Minder, Elisabeth I.

Life (Basel) ; 13(4)2023 Apr 21.

Artículo en Inglés | MEDLINE | ID: mdl-37109595

12.

First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.

Belosevic, Adrian; Minder, Anna-Elisabeth; Gueuning, Morgan; van Breemen, Franziska; Thun, Gian Andri; Mattle-Greminger, Maja P; Meyer, Stefan; Baumer, Alessandra; Minder, Elisabeth I; Schneider-Yin, Xiaoye; Barman-Aksözen, Jasmin.

Life (Basel) ; 13(9)2023 Sep 10.

Artículo en Inglés | MEDLINE | ID: mdl-37763293

13.

Iron and erythropoietic porphyrias.

Minder, Elisabeth I; Barman-Aksözen, Jasmin.

Blood ; 126(2): 130-2, 2015 Jul 09.

Artículo en Inglés | MEDLINE | ID: mdl-26160187

14.

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.

Bishop, David F; Schneider-Yin, Xiaoye; Clavero, Sonia; Yoo, Han-Wook; Minder, Elisabeth I; Desnick, Robert J.

Blood ; 115(5): 1062-9, 2010 Feb 04.

Artículo en Inglés | MEDLINE | ID: mdl-19965637

15.

Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy.

Collaud, Edwige; Wittwer, Luis; Minder, Anna-Elisabeth; Annoni, Jean-Marie; Minder, Elisabeth I; Chabwine, Joelle N.

Front Genet ; 13: 993453, 2022.

Artículo en Inglés | MEDLINE | ID: mdl-36386813

16.

Effects of different centrifugation conditions on clinical chemistry and Immunology test results.

Minder, Elisabeth I; Schibli, Adrian; Mahrer, Dagmar; Nesic, Predrag; Plüer, Kathrin.

BMC Clin Pathol ; 11: 6, 2011 May 10.

Artículo en Inglés | MEDLINE | ID: mdl-21569233

17.

Beyond pigmentation: signs of liver protection during afamelanotide treatment in Swiss patients with erythropoietic protoporphyria, an observational study.

Minder, Anna-Elisabeth; Barman-Aksoezen, Jasmin; Schmid, Mathias; Minder, Elisabeth I; Zulewski, Henryk; Minder, Christoph E; Schneider-Yin, Xiaoye.

Ther Adv Rare Dis ; 2: 26330040211065453, 2021.

Artículo en Inglés | MEDLINE | ID: mdl-37181106

18.

Repurposing of glycine transport inhibitors for the treatment of erythropoietic protoporphyria.

Halloy, François; Iyer, Pavithra S; Ghidini, Alice; Lysenko, Veronika; Barman-Aksözen, Jasmin; Grubenmann, Chia-Pei; Jucker, Jessica; Wildner-Verhey van Wijk, Nicole; Ruepp, Marc-David; Minder, Elisabeth I; Minder, Anna-Elisabeth; Schneider-Yin, Xiaoye; Theocharides, Alexandre P A; Schümperli, Daniel; Hall, Jonathan.

Cell Chem Biol ; 28(8): 1221-1234.e6, 2021 08 19.

Artículo en Inglés | MEDLINE | ID: mdl-33756123

19.

Exacerbation of erythropoietic protoporphyria by hyperthyroidism.

Minder, Elisabeth I; Haldemann, Andreas R; Schneider-Yin, Xiaoye.

J Inherit Metab Dis ; 33 Suppl 3: S465-9, 2010 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-21069463

20.

Patient-recorded outcome to assess therapeutic efficacy in protoporphyria-induced dermal phototoxicity: a proposal.

Minder, Elisabeth I; Schneider-Yin, Xiaoye; Minder, Christoph E.

Health Qual Life Outcomes ; 8: 60, 2010 Jun 21.

Artículo en Inglés | MEDLINE | ID: mdl-20565969

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