Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase

Liron Dvir; Gassoub Srour; Rasmi Abu-Ras; Benjamin Miller; Stavit A. Shalev; Tamar Ben-Yosef

doi:10.1016/j.ajhg.2010.06.016

Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase

The American Journal of Human Genetics ◽

10.1016/j.ajhg.2010.06.016 ◽

2010 ◽

Vol 87 (2) ◽

pp. 258-264 ◽

Cited By ~ 34

Author(s):

Liron Dvir ◽

Gassoub Srour ◽

Rasmi Abu-Ras ◽

Benjamin Miller ◽

Stavit A. Shalev ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Early Onset ◽

Autosomal Recessive ◽

Gene Encoding ◽

Gamma Subunit ◽

Cgmp Phosphodiesterase

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Mutations in PDE6A, the Gene Encoding the α-Subunit of Rod Photoreceptor Cgmp-Specific Phosphodiesterase, are Rare in Autosomal Recessive Retinitis Pigmentosa

Degenerative Retinal Diseases ◽

10.1007/978-1-4615-5933-7_26 ◽

1997 ◽

pp. 237-244 ◽

Cited By ~ 4

Author(s):

M. Meins ◽

A. Janecke ◽

C. Marschke ◽

M. J. Denton ◽

G. Kumaramanickavel ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Recessive ◽

Rod Photoreceptor ◽

Gene Encoding ◽

Α Subunit

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Homozygous tandem duplication within the gene encoding the β-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa

Human Mutation ◽

10.1002/humu.1380050307 ◽

1995 ◽

Vol 5 (3) ◽

pp. 228-234 ◽

Cited By ~ 43

Author(s):

Mònica Bayés ◽

Mara Giordano ◽

Susana Balcells ◽

Daniel Grinberg ◽

Llusïsa Vilageliu ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Recessive ◽

Tandem Duplication ◽

Β Subunit ◽

Gene Encoding

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Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration

Human Molecular Genetics ◽

10.1093/hmg/ddv025 ◽

2015 ◽

Vol 24 (9) ◽

pp. 2627-2640 ◽

Cited By ~ 12

Author(s):

B. M. Kevany ◽

N. Zhang ◽

B. Jastrzebska ◽

K. Palczewski

Keyword(s):

Retinitis Pigmentosa ◽

Retinal Degeneration ◽

Early Onset ◽

Autosomal Recessive

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SHORT COMMUNICATION: A novel homozygous Ile535Asn mutation in the rod cGMP phosphodiesterase ß-subunit gene in two brothers of a Japanese family with autosomal recessive retinitis pigmentosa

Current Eye Research ◽

10.1076/ceyr.17.3.332.5214 ◽

1998 ◽

Vol 17 (3) ◽

pp. 332-335 ◽

Cited By ~ 8

Author(s):

Masamichi Saga ◽

Yukihiko Mashima ◽

Kiyoshi Akeo ◽

Jun Kudoh ◽

Yoshihisa Oguchi ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Recessive ◽

Short Communication ◽

Subunit Gene ◽

Japanese Family ◽

Cgmp Phosphodiesterase

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Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit (PHKG2)

Biochemical and Biophysical Research Communications ◽

10.1006/bbrc.1997.7006 ◽

1997 ◽

Vol 236 (3) ◽

pp. 544-548 ◽

Cited By ~ 15

Author(s):

Ellen A.C.M. van Beurden ◽

Michelle de Graaf ◽

Udo Wendel ◽

Richard Gitzelmann ◽

Ruud Berger ◽

...

Keyword(s):

Splice Site ◽

Autosomal Recessive ◽

Splice Site Mutation ◽

Phosphorylase Kinase ◽

Site Mutation ◽

Gene Encoding ◽

Gamma Subunit

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Mutation of SPATA7 in a family with autosomal recessive early-onset retinitis pigmentosa

Journal of Molecular and Genetic Medicine ◽

10.4172/1747-0862.1000053 ◽

2012 ◽

Vol 06 (01) ◽

Cited By ~ 6

Author(s):

Chitra Kannabiran ◽

Lakshmi Palavalli ◽

Subhadra Jalali

Keyword(s):

Retinitis Pigmentosa ◽

Early Onset ◽

Autosomal Recessive

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Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.92.8.3249 ◽

1995 ◽

Vol 92 (8) ◽

pp. 3249-3253 ◽

Cited By ~ 170

Author(s):

M. E. McLaughlin ◽

T. L. Ehrhart ◽

E. L. Berson ◽

T. P. Dryja

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Recessive ◽

Beta Subunit ◽

Mutation Spectrum ◽

Gene Encoding

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Mutation of the gene encoding cellular retinaldehyde–binding protein in autosomal recessive retinitis pigmentosa

Nature Genetics ◽

10.1038/ng1097-198 ◽

1997 ◽

Vol 17 (2) ◽

pp. 198-200 ◽

Cited By ~ 193

Author(s):

Marion A. Maw ◽

Breandan Kennedy ◽

Allison Knight ◽

Robyn Bridges ◽

Karen E. Roth ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Recessive ◽

Binding Protein ◽

Gene Encoding

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Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa

The Journal of Gene Medicine ◽

10.1002/jgm.3211 ◽

2020 ◽

Vol 22 (10) ◽

Cited By ~ 1

Author(s):

Marta Owczarek‐Lipska ◽

Fei Song ◽

Vesna Jakšić ◽

John Neidhardt

Keyword(s):

Retinitis Pigmentosa ◽

Early Onset ◽

Autosomal Recessive ◽

Compound Heterozygous

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Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.92.22.10177 ◽

1995 ◽

Vol 92 (22) ◽

pp. 10177-10181 ◽

Cited By ~ 139

Author(s):

T. P. Dryja ◽

J. T. Finn ◽

Y. W. Peng ◽

T. L. McGee ◽

E. L. Berson ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Autosomal Recessive ◽

Alpha Subunit ◽

Gene Encoding ◽

Gated Channel

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