The genetic and molecular basis of congenital eye defects (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

publication date

1 November 2003

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9 August 2017

published in

Nature Reviews Genetics

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9 August 2017

volume

4

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9 August 2017

issue

11

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9 August 2017

page(s)

876-888

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Melanopsin is required for non-image-forming photic responses in blind mice

9 August 2017

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

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

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pH and calcium regulate the water permeability of aquaporin 0.

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Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q

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Mutations in the founder of the MIP gene family underlie cataract development in the mouse.

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A 76-bp deletion in the Mip gene causes autosomal dominant cataract in Hfi mice

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Disruption of α3 Connexin Gene Leads to Proteolysis and Cataractogenesis in Mice

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Defining a link between gap junction communication, proteolysis, and cataract formation

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A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

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A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract

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Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract

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Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans

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Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse

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A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene

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Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

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The gamma S-crystallin gene is mutated in autosomal recessive cataract in mouse

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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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Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography

31 March 2020

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Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts

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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A frameshift mutation in the gamma E-crystallin gene of the Elo mouse

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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Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.

31 March 2020

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The rat microphthalmia-associated transcription factor gene (Mitf) maps at 4q34-q41 and is mutated in the mib rats

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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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

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

31 March 2020

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

31 March 2020

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Microphthalmia resulting from MSX2-induced apoptosis in the optic vesicle

31 March 2020

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

31 March 2020

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

31 March 2020

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VSX1: a gene for posterior polymorphous dystrophy and keratoconus

31 March 2020

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BMP4 is essential for lens induction in the mouse embryo

31 March 2020

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

31 March 2020

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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

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

31 March 2020

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

31 March 2020

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Connexin46 mutations in autosomal dominant congenital cataract

31 March 2020

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Gap junctional coupling in lenses lacking alpha3 connexin

31 March 2020

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

31 March 2020

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

31 March 2020

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

31 March 2020

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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

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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.

31 March 2020

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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

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Mutations in the CRB1 gene cause Leber congenital amaurosis

31 March 2020

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Null RPGRIP1 alleles in patients with Leber congenital amaurosis

31 March 2020

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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

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

31 March 2020

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

31 March 2020

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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

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9 August 2017

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