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Positional cloning of the gene for X-linked retinitis pigmentosa 2

• Uwe Schwahn, Steffen Lenzner, +13 authors Wolfgang Berger
• Nature Genetics
• 1998

X-linked retinitis pigmentosa (XLRP) results from mutations in at least two different loci, designated RP2 and RP3, located at Xp11.3 and Xp21.1, respectively. The RP3 gene was recently isolated by… (More)

Evidence against a Beneficial Effect of Irisin in Humans

• Silja Raschke, Manuela Elsen, +13 authors Jürgen Eckel
• PloS one
• 2013

Brown adipose tissue has gained interest as a potential target to treat obesity and metabolic diseases. Irisin is a newly identified hormone secreted from skeletal muscle enhancing browning of white… (More)

Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells.

• Michelle L. Kimberland, Vladimír Divoký, Josef T Prchal, Uwe Schwahn, Walter Berger, Halq H Kazazian
• Human molecular genetics
• 1999

Functional L1 elements are autonomous retrotransposons that can insert into human genes and cause disease. To date, 10 of 12 known L1 retrotranspositions into human genes have been found to be… (More)

Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C.

• Francesca Bartolini, Arunashree Bhamidipati, Scott Thomas, Uwe Schwahn, Sally A. Lewis, Nicholas J. Cowan
• The Journal of biological chemistry
• 2002

Mutations in the X-linked retinitis pigmentosa 2 gene cause progressive degeneration of photoreceptor cells. The retinitis pigmentosa 2 protein (RP2) is similar in sequence to the tubulin-specific… (More)

Alirocumab inhibits atherosclerosis, improves the plaque morphology, and enhances the effects of a statin.

• Susan Kühnast, José W.A. van der Hoorn, +8 authors Hans M. G. Princen
• Journal of lipid research
• 2014

Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibition is a potential novel strategy for treatment of CVD. Alirocumab is a fully human PCSK9 monoclonal antibody in phase 3 clinical… (More)

CALL FOR PAPERS Stem Cell Physiology and Pathophysiology BMP4 and BMP7 induce the white-to-brown transition of primary human adipose stem cells

• Manuela Elsen, Silja Raschke, +5 authors Jürgen Eckel
• 2014

Manuela Elsen, Silja Raschke, Norbert Tennagels, Uwe Schwahn, Tomas Jelenik, Michael Roden, Tania Romacho, and Jürgen Eckel Paul-Langerhans-Group for Integrative Physiology, German Diabetes Center,… (More)

Antihypertensive and laxative effects by pharmacological inhibition of sodium-proton-exchanger subtype 3-mediated sodium absorption in the gut.

• Dominik Linz, Klaus J. Wirth, +8 authors Hartmut Ruetten
• Hypertension
• 2012

High intestinal sodium absorption is one mechanism of hypertension and constipation. The sodium-proton-exchanger subtype 3 (NHE3) is an important mediator of sodium absorption in the gut. SAR218034… (More)

Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2).

• Thomas Rosenberg, Uwe Schwahn, Silke Feil, Walter Berger
• Ophthalmic genetics
• 1999

PURPOSE To identify possible correlations between the putative mutations and the clinical characteristics in X-linked retinitis pigmentosa, RP2. DESIGN A retrospective, descriptive clinical study.… (More)

Inhibition of Sodium - Proton - Exchanger Subtype 3 – Mediated Sodium Absorption in the Gut

• Dominik Linz, Klaus J. Wirth, +4 authors Michael Böhm

Alirocumab inhibits atherosclerosis, improves the plaque morphology, and enhances the effects of a statin[S]

• Susan Kühnast, José W.A. van der Hoorn, +8 authors Hans M. G. Princen
• 2014

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