Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa (Q37156105)

18 August 2017

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa (English)

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Leber congenital amaurosis

18 August 2017

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Hui Wang

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18 August 2017

13

James R Lupski

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18 August 2017

15

Robert K Koenekoop

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18 August 2017

10

Ali A Al-Rajhi

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18 August 2017

Anneke I den Hollander

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18 August 2017

Yalda Moayedi

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18 August 2017

Abuduaini Abulimiti

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18 August 2017

Yumei Li

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18 August 2017

Rob W J Collin

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18 August 2017

Carel B Hoyng

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18 August 2017

Irma Lopez

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18 August 2017

Emad B Abboud

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18 August 2017

Molly Bray

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18 August 2017

Richard Alan Lewis

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18 August 2017

Graeme Mardon

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18 August 2017

Rui Chen

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18 August 2017

language of work or name

English

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publication date

5 March 2009

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American Journal of Human Genetics

18 August 2017

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18 August 2017

84

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18 August 2017

3

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18 August 2017

380-387

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Mutation survey of known LCA genes and loci in the Saudi Arabian population

18 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Leber congenital amaurosis: genes, proteins and disease mechanisms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

A novel locus for Leber congenital amaurosis on chromosome 14q24.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Mutations in RPE65 cause Leber's congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Detection of messenger RNA by in situ hybridization to tissue sections and whole mounts

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Molecular basis of base substitution hotspots in Escherichia coli

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Prevalence of AIPL1 mutations in inherited retinal degenerative disease

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668010

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19268277

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutational analysis and clinical correlation in Leber congenital amaurosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19268277

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Methodology for using a universal primer to label amplified DNA segments for molecular analysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19268277

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2009.02.005

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

19268277

1 reference