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Items: 13

1.

Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Protoporphyria in Clinical Practice.

Wensink D, Wagenmakers MAEM, Barman-Aksözen J, Friesema ECH, Wilson JHP, van Rosmalen J, Langendonk JG.

JAMA Dermatol. 2020 Mar 18. doi: 10.1001/jamadermatol.2020.0352. [Epub ahead of print]

PMID:
32186677
2.

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

Barman-Aksözen J, Suter L, Wegmann F, Meienberg J, Minder AE, Beer M, Komminoth P, Minder EI, Schneider-Yin X.

Scand J Clin Lab Invest. 2019 Sep;79(5):305-313. doi: 10.1080/00365513.2019.1622030. Epub 2019 Jun 1.

PMID:
31154864
3.

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

Barman-Aksözen J, Halloy F, Iyer PS, Schümperli D, Minder AE, Hall J, Minder EI, Schneider-Yin X.

Mol Genet Metab. 2019 Nov;128(3):304-308. doi: 10.1016/j.ymgme.2019.04.013. Epub 2019 May 2.

4.

[Porphyria - when to think about how to clarify and treat?]

Minder AE, Barman-Aksözen J, Zulewski H, Schneider-Yin X, Minder EI.

Ther Umsch. 2018 Nov;75(4):225-233. doi: 10.1024/0040-5930/a000993. German.

PMID:
30468116
5.

Multi-laboratory proficiency testing of clinical cancer genomic profiling by next-generation sequencing.

Zhong Q, Wagner U, Kurt H, Molinari F, Cathomas G, Komminoth P, Barman-Aksözen J, Schneider-Yin X, Rey JP, Vassella E, Rogel U, Diebold J, McKee T, Jochum W, Kashofer K, Hofman P, Zischka M, Moch H, Rechsteiner M, Wild PJ.

Pathol Res Pract. 2018 Jul;214(7):957-963. doi: 10.1016/j.prp.2018.05.020. Epub 2018 May 22.

PMID:
29807778
6.

CME-Antworten.

Senn JD, Huber LC, Barman-Aksözen J, Minder E.

Praxis (Bern 1994). 2018 Feb;107(4):229-230. doi: 10.1024/1661-8157/a002888. German. No abstract available.

PMID:
29439627
7.

[CME: Acute Intermittent Porphyria: When to Think of It? What Must be Checked? How to Treat?]

Senn JD, Huber LC, Barman-Aksözen J, Minder E.

Praxis (Bern 1994). 2018 Jan;107(3):117-124. doi: 10.1024/1661-8157/a002887. Review. German. No abstract available.

PMID:
29382268
8.

Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.

Barman-Aksözen J, C Wiek P, Bansode VB, Koentgen F, Trüb J, Pelczar P, Cinelli P, Schneider-Yin X, Schümperli D, Minder EI.

Dis Model Mech. 2017 Mar 1;10(3):225-233. doi: 10.1242/dmm.027755. Epub 2017 Jan 12.

9.

Iron and erythropoietic porphyrias.

Minder EI, Barman-Aksözen J.

Blood. 2015 Jul 9;126(2):130-2. doi: 10.1182/blood-2015-05-646737. No abstract available.

PMID:
26160187
10.

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

Schneider-Yin X, van Tuyll van Serooskerken AM, Siegesmund M, Went P, Barman-Aksözen J, Bladergroen RS, Komminoth P, Cloots RH, Winnepenninckx VJ, zur Hausen A, Weber M, Driessen A, Poblete-Gutiérrez P, Bauer P, Schroeder C, van Geel M, Minder EI, Frank J.

J Hepatol. 2015 Mar;62(3):734-8. doi: 10.1016/j.jhep.2014.11.029. Epub 2014 Nov 28.

PMID:
25445397
12.

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

Barman-Aksözen J, Minder EI, Schubiger C, Biolcati G, Schneider-Yin X.

Blood Cells Mol Dis. 2015 Jan;54(1):71-7. doi: 10.1016/j.bcmd.2014.07.017. Epub 2014 Aug 30.

PMID:
25179834
13.

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

Barman-Aksözen J, Béguin C, Dogar AM, Schneider-Yin X, Minder EI.

Blood Cells Mol Dis. 2013 Oct;51(3):151-61. doi: 10.1016/j.bcmd.2013.05.008. Epub 2013 Jun 18.

PMID:
23787363

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