(Q35591712)

9 August 2017

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title

The genetic and molecular basis of congenital eye defects (English)

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9 August 2017

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Jochen Graw

1

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9 August 2017

1 November 2003

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9 August 2017

Nature Reviews Genetics

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9 August 2017

4

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9 August 2017

11

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9 August 2017

876-888

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https://scigraph.springernature.com/pub.10.1038/nrg1202

9 August 2017

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

31 March 2020

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Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract

31 March 2020

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31 March 2020

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Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genes.

31 March 2020

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Altered aggregation properties of mutant gamma-crystallins cause inherited cataract

31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations

31 March 2020

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Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis

31 March 2020

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31 March 2020

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The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus

31 March 2020

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A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene

31 March 2020

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Novel anterior segment phenotypes resulting from forkhead gene alterations: evidence for cross-species conservation of function.

31 March 2020

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Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies

31 March 2020

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A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

31 March 2020

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The mutational spectrum in Waardenburg syndrome.

31 March 2020

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Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family

31 March 2020

1 reference

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

31 March 2020

1 reference

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome

31 March 2020

1 reference

Microphthalmia resulting from MSX2-induced apoptosis in the optic vesicle

31 March 2020

1 reference

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

31 March 2020

1 reference

Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna

31 March 2020

1 reference

VSX1: a gene for posterior polymorphous dystrophy and keratoconus

31 March 2020

1 reference

BMP4 is essential for lens induction in the mouse embryo

31 March 2020

1 reference

Retinal ablation and altered lens differentiation induced by ocular overexpression of BMP7.

31 March 2020

1 reference

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts

31 March 2020

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Optical dysfunction of the crystalline lens in aquaporin-0-deficient mice

31 March 2020

1 reference

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

31 March 2020

1 reference

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

31 March 2020

1 reference

Connexin46 mutations in autosomal dominant congenital cataract

31 March 2020

1 reference

Gap junctional coupling in lenses lacking alpha3 connexin

31 March 2020

1 reference

A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice

31 March 2020

1 reference

Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts

31 March 2020

1 reference

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

31 March 2020

1 reference

A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q

31 March 2020

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

31 March 2020

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Retinopathy and attenuated circadian entrainment in Crx-deficient mice.

31 March 2020

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Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy

31 March 2020

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Mutations in RPE65 cause Leber's congenital amaurosis

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Mutations in the CRB1 gene cause Leber congenital amaurosis

31 March 2020

1 reference

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

31 March 2020

1 reference

The structural basis for biphasic kinetics in the folding of the WW domain from a formin-binding protein: lessons for protein design?

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

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Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)

31 March 2020

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31 March 2020

Identifiers

DOI

10.1038/NRG1202

1 reference

9 August 2017

1 reference

PubMed ID

14634635