Non-syndromic retinal ciliopathies: translating gene discovery into therapy-Reference-Cited by-同舟云学术

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Non-syndromic retinal ciliopathies: translating gene discovery into therapy

Published:2012-07-26 Issue:R1 Volume:21 Page:R111-R124
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Estrada-Cuzcano A.,Roepman R.,Cremers F. P. M.,den Hollander A. I.,Mans D. A.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/21/R1/R111/1857347/dds298.pdf

Reference168 articles.

1. Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

2. Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

3. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

4. Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

5. TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

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4. Centriole and transition zone structures in photoreceptor cilia revealed by cryo-electron tomography;Life Science Alliance;2024-01-05

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