PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly-Reference-Cited by-同舟云学术

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

Published:2015-12-14 Issue:2 Volume:37 Page:170-174
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zaki Maha S.¹,Heller Raoul²,Thoenes Michaela²,Nürnberg Gudrun³,Stern-Schneider Gabi⁴,Nürnberg Peter³⁵,Karnati Srikanth⁶,Swan Daniel⁷,Fateen Ekram⁸,Nagel-Wolfrum Kerstin⁴,Mostafa Mostafa I.⁹,Thiele Holger³,Wolfrum Uwe⁴,Baumgart-Vogt Eveline⁶,Bolz Hanno J.²¹⁰

Affiliation:

1. Department of Clinical Genetics, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

2. Institute of Human Genetics; University Hospital of Cologne; Cologne Germany

3. Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC); University of Cologne; Cologne Germany

4. Department of Cell and Matrix Biology, Institute of Zoology; Johannes Gutenberg University of Mainz; Mainz Germany

5. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD); University of Cologne; Cologne Germany

6. Institute for Anatomy and Cell Biology; Justus Liebig University; Giessen Germany

7. Computational Biology Group; Oxford Gene Technology; Oxford United Kingdom

8. Department of Biochemical Genetics, Human Genetics and Genome Research Division; National Research Centre; Cairo Egypt

9. Department of Orodental Genetics, Orodental Research Division; National Research Centre; Cairo Egypt

10. Bioscientia Center for Human Genetics; Ingelheim Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22934/fullpdf

Reference31 articles.

1. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa;Abd El-Aziz;Nat Genet,2008

2. The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration;Abdel-Salam;Orphanet J Rare Dis,2014

3. The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease;Baldwin;J Neurol Neurosurg Psychiatry,2010

4. Late onset white matter disease in peroxisome biogenesis disorder;Barth;Neurology,2001

5. Mutation of POC1B in a severe syndromic retinal ciliopathy;Beck;Hum Mutat,2014

Cited by 38 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The crucial role of centrioles in tooth growth and development;Journal of the Formosan Medical Association;2024-05

2. Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder;Ophthalmic Genetics;2024-04-25

3. The peroxisome: an update on mysteries 3.0;Histochemistry and Cell Biology;2024-01-20

4. Zellweger Spectrum Disorder;Ophthalmology;2023-12

5. The essential role of docosahexaenoic acid and its derivatives for retinal integrity;Pharmacology & Therapeutics;2023-07