A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis. (Q45129434)

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4 January 2020

title

A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis (English)

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1

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9

Robert Koenekoop

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4 January 2020

author name string

Sharola Dharmaraj

2

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Ying Ying Li

3

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Ana Luisa Pina

4

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Robert Colin Carter

5

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4 January 2020

Magali Loyer

6

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4 January 2020

Elias Traboulsi

7

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George Theodossiadis

8

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Olof Sundin

10

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Irene Maumenee

11

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publication date

1 September 2004

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4 January 2020

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4 January 2020

volume

25

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page(s)

205-217

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issue

3

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Monogenic traits are not simple: lessons from phenylketonuria

4 January 2020

cites work

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Modifier genes convert "simple" Mendelian disorders to complex traits

21 January 2018

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Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.

21 January 2018

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A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene

21 January 2018

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Mutations in RPE65 cause Leber's congenital amaurosis

21 January 2018

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De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

21 January 2018

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Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

21 January 2018

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Null RPGRIP1 alleles in patients with Leber congenital amaurosis

21 January 2018

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TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

21 January 2018

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Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis

21 January 2018

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Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis

21 January 2018

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Regulation of photoreceptor membrane guanylyl cyclases by guanylyl cyclase activator proteins

21 January 2018

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The kinase homology domain of retinal guanylyl cyclases 1 and 2 specifies the affinity and cooperativity of interaction with guanylyl cyclase activating protein-2.

21 January 2018

1 reference

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Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

21 January 2018

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Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

21 January 2018

1 reference

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Genetic defects in vitamin A metabolism of the retinal pigment epithelium

21 January 2018

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New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis.

21 January 2018

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Muller cells of chicken retina synthesize 11-cis-retinol

21 January 2018

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A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

21 January 2018

1 reference

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Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

21 January 2018

1 reference

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The contribution of glycolytic and oxidative pathways to retinal photoreceptor function

21 January 2018

1 reference

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Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degeneration

21 January 2018

1 reference

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10.1080/13816810490513451

21 January 2018

Identifiers

DOI

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4 January 2020

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