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Items: 6

1.

Compensation for chronic oxidative stress in ALADIN null mice.

Jühlen R, Peitzsch M, Gärtner S, Landgraf D, Eisenhofer G, Huebner A, Koehler K.

Biol Open. 2018 Jan 23;7(1). pii: bio030742. doi: 10.1242/bio.030742.

2.

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.

Shima H, Koehler K, Nomura Y, Sugimoto K, Satoh A, Ogata T, Fukami M, Jühlen R, Schuelke M, Mohnike K, Huebner A, Narumi S.

J Med Genet. 2018 Feb;55(2):81-85. doi: 10.1136/jmedgenet-2017-105020. Epub 2017 Nov 24.

PMID:
29175836
3.

Identification of a novel putative interaction partner of the nucleoporin ALADIN.

Jühlen R, Landgraf D, Huebner A, Koehler K.

Biol Open. 2016 Nov 15;5(11):1697-1705. doi: 10.1242/bio.021162.

4.

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.

Koehler K, Milev MP, Prematilake K, Reschke F, Kutzner S, Jühlen R, Landgraf D, Utine E, Hazan F, Diniz G, Schuelke M, Huebner A, Sacher M.

J Med Genet. 2017 Mar;54(3):176-185. doi: 10.1136/jmedgenet-2016-104108. Epub 2016 Oct 5.

PMID:
27707803
5.

Computational analysis of liquid chromatography-tandem mass spectrometric steroid profiling in NCI H295R cells following angiotensin II, forskolin and abiraterone treatment.

Mangelis A, Dieterich P, Peitzsch M, Richter S, Jühlen R, Hübner A, Willenberg HS, Deussen A, Lenders JW, Eisenhofer G.

J Steroid Biochem Mol Biol. 2016 Jan;155(Pt A):67-75. doi: 10.1016/j.jsbmb.2015.09.038. Epub 2015 Oct 3.

PMID:
26435452
6.

Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis.

Jühlen R, Idkowiak J, Taylor AE, Kind B, Arlt W, Huebner A, Koehler K.

PLoS One. 2015 Apr 13;10(4):e0124582. doi: 10.1371/journal.pone.0124582. eCollection 2015.

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