Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy-Reference-Cited by-同舟云学术

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

Published:2014-08 Issue:2 Volume:95 Page:131-142
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Roosing Susanne,Lamers Ideke J.C.,de Vrieze Erik,van den Born L. Ingeborgh,Lambertus Stanley,Arts Heleen H.,Peters Theo A.,Hoyng Carel B.,Kremer Hannie,Hetterschijt Lisette,Letteboer Stef J.F.,van Wijk Erwin,Roepman Ronald,den Hollander Anneke I.,Cremers Frans P.M.,Boldt Karsten,de Baere Elfride,Klaver Caroline C.W.,Coppieters Frauke,Koolen David A.,Lugtenberg Dorien,Neveling Kornelia,van Reeuwijk Jeroen,Ueffing Marius,van Beersum Sylvia E.C.,Zonneveld-Vrieling Marijke N.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference41 articles.

1. Cone rod dystrophies;Hamel;Orphanet J. Rare Dis.,2007

2. The cone dysfunction syndromes;Michaelides;Br. J. Ophthalmol.,2004

3. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders;Thiadens;Am. J. Hum. Genet.,2009

4. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21;Kohl;Hum. Mol. Genet.,2000

5. Genetic etiology and clinical consequences of complete and incomplete achromatopsia;Thiadens;Ophthalmology,2009

Cited by 68 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. Fly Fam161 is an essential centriole and cilium transition zone protein with unique and diverse cell type-specific localizations;Open Biology;2024-09

2. Poc1 bridges basal body inner junctions to promote triplet microtubule integrity and connections;Journal of Cell Biology;2024-05-14

3. Rational design of a genomically humanized mouse model for dominantly inherited hearing loss, DFNA9;Hearing Research;2024-02

4. The evolution of centriole degradation in mouse sperm;Nature Communications;2024-01-02

5. Zebrafish Optokinetic Reflex: Minimal Reporting Guidelines and Recommendations;Biology;2023-12-20