Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis Pigmentosa

by Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P.M. Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schäferhoff, Tilman Heinrich, Tobias B. Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Published 2021-02-01

Ablation of Enpp6 Results in Transient Bone Hypomineralization

by Scott Dillon, Karla Suchacki, Shun‐Neng Hsu, Louise A Stephen, Rongling Wang, William P Cawthorn, Alan J Stewart, Fabio Nudelman, Nicholas M Morton, Colin Farquharson
Published 2021-02-01

Cone Phosphodiesterase-6γ’ Subunit Augments Cone PDE6 Holoenzyme Assembly and Stability in a Mouse Model Lacking Both Rod and Cone PDE6 Catalytic Subunits

by Wen-Tao Deng, Saravanan Kolandaivelu, Astra Dinculescu, Jie Li, Ping Zhu, Vince A. Chiodo, Visvanathan Ramamurthy, William W. Hauswirth
Published 2018-07-01

Identification of a novel non-stop mutation in PDE6C gene in an Iranian family with Con-Rod Dystrophy

by Shahram Nasiri, Farah Talebi, Javad Mohammadi Asl, Farideh Ghanbari Mardasi
Published 2020-08-01