The Abcc6a Knockout Zebrafish Model as a Novel Tool for Drug Screening for Pseudoxanthoma Elasticum

Autor: M. Van Gils, A. Willaert, P. J. Coucke, O. M. Vanakker

Publikováno v: Frontiers in Pharmacology, Vol 13 (2022)

Pseudoxanthoma elasticum (PXE) is a multisystem ectopic mineralization disorder caused by pathogenic variants in the ABCC6 gene. Though complications of the disease can be treated, PXE itself remains currently intractable. A strategy for rapid and co

Externí odkaz: https://doaj.org/article/f8faaf014fbf4486b127ac25f71c9ed7

Pharmacogenomics in Children: Advantages and Challenges of Next Generation Sequencing Applications

Autor: O. M. Vanakker, A. De Paepe

Publikováno v: International Journal of Pediatrics, Vol 2013 (2013)

Pharmacogenetics is considered as a prime example of how personalized medicine nowadays can be put into practice. However, genotyping to guide pharmacological treatment is relatively uncommon in the routine clinical practice. Several reasons can be f

Externí odkaz: https://doaj.org/article/7f568158aed348ffa49b4d95b11a46b8

ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.

Autor: Beyens, Aude¹ (AUTHOR), Moreno‐Artero, Ester² (AUTHOR), Bodemer, Christine² (AUTHOR), Cox, Helen³ (AUTHOR), Gezdirici, Alper⁴ (AUTHOR), Yilmaz Gulec, Elif⁴ (AUTHOR), Kahloul, Najoua⁵ (AUTHOR), Khau Van Kien, Philippe⁶ (AUTHOR), Ogur, Gonul⁷ (AUTHOR), Harroche, Annie⁸ (AUTHOR), Vasse, Marc⁹ (AUTHOR), Salhi, Aïcha¹⁰ (AUTHOR), Symoens, Sofie¹ (AUTHOR), Hadj‐Rabia, Smail² (AUTHOR), Callewaert, Bert¹ (AUTHOR) bert.callewaert@ugent.be

Publikováno v: Experimental Dermatology. Oct2019, Vol. 28 Issue 10, p1142-1145. 4p.

Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum.

Autor: Kringen, Marianne K.¹, Stormo, Camilla², Berg, Jens Petter^2,3, Terry, Sharon F.⁴, Vocke, Christine M.⁴, Rizvi, Samar⁴, Hendig, Doris⁵, Piehler, Armin P.⁶

Publikováno v: Molecular Genetics & Genomic Medicine. May2015, Vol. 3 Issue 3, p233-237. 5p.

Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues.

Autor: Hosen, Mohammad J.^1,2, Lamoen, Anouck¹, De Paepe, Anne¹, Vanakker, Olivier M.¹ olivier.vanakker@ugent.be

Publikováno v: Scientifica. 2012, p1-15. 15p.