The N1317H substitution associated with Leber congenital amaurosis results in impaired interdomain packing in human CRB1 epidermal growth factor-like (EGF) domains. (Q52580775)

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scientific article published on 27 July 2007

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English	The N1317H substitution associated with Leber congenital amaurosis results in impaired interdomain packing in human CRB1 epidermal growth factor-like (EGF) domains.	scientific article published on 27 July 2007

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scholarly article

1 reference

Europe PubMed Central

3 May 2018

http://europepmc.org/abstract/MED/17660513

The N1317H substitution associated with Leber congenital amaurosis results in impaired interdomain packing in human CRB1 epidermal growth factor-like (EGF) domains. (English)

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Europe PubMed Central

3 May 2018

http://europepmc.org/abstract/MED/17660513

Leber congenital amaurosis

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based on heuristic

inferred from title

Christina Redfield

3

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Europe PubMed Central

3 May 2018

http://europepmc.org/abstract/MED/17660513

author name string

Jason A Davis

1

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Europe PubMed Central

3 May 2018

http://europepmc.org/abstract/MED/17660513

Penny A Handford

2

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3 May 2018

http://europepmc.org/abstract/MED/17660513

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publication date

27 July 2007

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http://europepmc.org/abstract/MED/17660513

Journal of Biological Chemistry

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http://europepmc.org/abstract/MED/17660513

282

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Europe PubMed Central

3 May 2018

http://europepmc.org/abstract/MED/17660513

39

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Europe PubMed Central

3 May 2018

http://europepmc.org/abstract/MED/17660513

28807-28814

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Europe PubMed Central

3 May 2018

http://europepmc.org/abstract/MED/17660513

Towards understanding CRUMBS function in retinal dystrophies.

1 reference

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crumbs encodes an EGF-like protein expressed on apical membranes of Drosophila epithelial cells and required for organization of epithelia

1 reference

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Mammalian Crumbs3 is a small transmembrane protein linked to protein associated with Lin-7 (Pals1)

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CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila

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Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres

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Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis

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Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure

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

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Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa

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Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene

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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

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Mutations in the CRB1 gene cause Leber congenital amaurosis

1 reference

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Molecular genetics of Leber congenital amaurosis

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Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

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CRB1 mutation spectrum in inherited retinal dystrophies

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Drosophila crumbs is required to inhibit light-induced photoreceptor degeneration

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MPP5 recruits MPP4 to the CRB1 complex in photoreceptors

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MPP3 is recruited to the MPP5 protein scaffold at the retinal outer limiting membrane

1 reference

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A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1.

1 reference

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Key residues involved in calcium-binding motifs in EGF-like domains

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Structural and functional properties of the human notch-1 ligand binding region.

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Molecular interactions between the protein products of the neurogenic loci Notch and Delta, two EGF-homologous genes in Drosophila

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Binding of fibulin-1 to nidogen depends on its C-terminal globular domain and a specific array of calcium-binding epidermal growth factor-like (EG) modules

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Missense variations in the fibulin 5 gene and age-related macular degeneration

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HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective

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Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.

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Structural consequences of cysteine substitutions C1977Y and C1977R in calcium-binding epidermal growth factor-like domain 30 of human fibrillin-1.

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Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1

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Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders

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Calcium stabilizes fibrillin-1 against proteolytic degradation.

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EGF-like domain calcium affinity modulated by N-terminal domain linkage in human fibrillin-1.

1 reference

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Calcium binding properties of an epidermal growth factor-like domain pair from human fibrillin-1.

1 reference

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A G1127S change in calcium-binding epidermal growth factor-like domain 13 of human fibrillin-1 causes short range conformational effects

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Calcium-binding EGF-like modules in coagulation proteinases: function of the calcium ion in module interactions

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Epidermal growth factor-like modules

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Identifiers

10.1074/JBC.M704015200

1 reference

Europe PubMed Central

3 May 2018

http://europepmc.org/abstract/MED/17660513

1 reference

Europe PubMed Central

3 May 2018

http://europepmc.org/abstract/MED/17660513

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