The complexities of ocular genetics (Q34592303)

3 August 2017

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title

The complexities of ocular genetics (English)

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3 August 2017

Saleem RA

1

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3 August 2017

Walter MA

series ordinal

2

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3 August 2017

publication date

1 February 2002

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3 August 2017

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3 August 2017

volume

61

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3 August 2017

issue

2

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3 August 2017

page(s)

79-88

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Summary of heritable ocular disorders and selected systemic conditions with eye findings

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Nrl and Sp nuclear proteins mediate transcription of rod-specific cGMP-phosphodiesterase beta-subunit gene: involvement of multiple response elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Structure and function of cyclic nucleotide-gated channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Molecular and biochemical characterization of lecithin retinol acyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

A human opsin-related gene that encodes a retinaldehyde-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

The endogenous chromophore of retinal G protein-coupled receptor opsin from the pigment epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

A photic visual cycle of rhodopsin regeneration is dependent on Rgr.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Implication of tubby proteins as transcription factors by structure-based functional analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Mutations in the CRB1 gene cause Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

The GTP-binding protein Ran/TC4 is required for protein import into the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Catalysis of guanine nucleotide exchange on Ran by the mitotic regulator RCC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Defective myosin VIIA gene responsible for Usher syndrome type 1B

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

A common ancestral origin of the frequent and widespread 2299delG USH2A mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Usher's syndrome type 3 in Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Cloning of the CDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

The effect of lipid environment and retinoids on the ATPase activity of ABCR, the photoreceptor ABC transporter responsible for Stargardt macular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

21 January 2018

PAX6 mutations reviewed

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

Genomic organization of the human rod photoreceptor cGMP-gated cation channel beta-subunit gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

Molecular genetics of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

Positional cloning of the gene for X-linked retinitis pigmentosa 2

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

Subunit composition of the peripherin/rds-rom-1 disk rim complex from rod photoreceptors: hydrodynamic evidence for a tetrameric quaternary structure

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

New insights into the pathogenesis of choroideremia: a tale of two REPs

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610201.X

7 January 2021

10.1034/J.1399-0004.2002.610201.X

Identifiers

DOI

1 reference

3 August 2017

1 reference