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6 Ergebnisse 1
Postprint
Consortium of Swiss Academic Libraries

Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147

Stäubli, Andrina ; Capatina, Nadejda ; Fuhrer, Yvonne ; Munier, Francis L. ; Labs, Stephan ; Schorderet, Daniel F. ; Tiwari, Amit ; Verrey, Francois ; Heon, Elise ; Cheng, Ching-Yu ; Wong, Tien-Yin ; Berger, Wolfgang ; Camargo, Simone M R. ; Kloeckener-Gruissem, Barbara

In: Human Molecular Genetics, 2017, vol. 26, no. 21, p. 4203-4214

Postprint
Consortium of Swiss Academic Libraries

Large genomic fibrillin-1 ( FBN1 ) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

Mátyás, Gábor ; Alonso, Sira ; Patrignani, Andrea ; Marti, Myriam ; Arnold, Eliane ; Magyar, István ; Henggeler, Caroline ; Carrel, Thierry ; Steinmann, Beat ; Berger, Wolfgang

In: Human Genetics, 2007, vol. 122, no. 1, p. 23-32

Postprint
Consortium of Swiss Academic Libraries

Regulatory regions of the paraoxonase 1 ( PON1 ) gene are associated with neovascular age-related macular degeneration (AMD)

Oczos, Jadwiga ; Grimm, Christian ; Barthelmes, Daniel ; Sutter, Florian ; Menghini, Moreno ; Kloeckener-Gruissem, Barbara ; Berger, Wolfgang

In: AGE, 2013, vol. 35, no. 5, p. 1651-1662

Postprint
Consortium of Swiss Academic Libraries

Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells

Zuercher, Jurian ; Fritzsche, Martin ; Feil, Silke ; Mohn, Lucas ; Berger, Wolfgang

In: Human Molecular Genetics, 2012, vol. 21, no. 12, p. 2619-2630

Postprint
Consortium of Swiss Academic Libraries

Functional ADA Polymorphism Increases Sleep Depth and Reduces Vigilant Attention in Humans

Bachmann, Valérie ; Klaus, Federica ; Bodenmann, Sereina ; Schäfer, Nikolaus ; Brugger, Peter ; Huber, Susanne ; Berger, Wolfgang ; Landolt, Hans-Peter

In: Cerebral Cortex, 2012, vol. 22, no. 4, p. 962-970

Postprint
Consortium of Swiss Academic Libraries

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter

Abplanalp, Jeannette ; Laczko, Endre ; Philp, Nancy J. ; Neidhardt, John ; Zuercher, Jurian ; Braun, Philipp ; Schorderet, Daniel F. ; Munier, Francis L. ; Verrey, François ; Berger, Wolfgang ; Camargo, Simone M.R. ; Kloeckener-Gruissem, Barbara

In: Human Molecular Genetics, 2013, vol. 22, no. 16, p. 3218-3226

6 Ergebnisse 1