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CRB1 mutation spectrum in inherited retinal dystrophies
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scholarly article
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review article
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Europe PubMed Central
title
CRB1 mutation spectrum in inherited retinal dystrophies
(English)
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author
Frans P M Cremers
series ordinal
13
object named as
Frans P M Cremers
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Anneke den Hollander
series ordinal
1
object named as
Anneke I den Hollander
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author name string
Jason Davis
series ordinal
2
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Saskia D van der Velde-Visser
series ordinal
3
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Marijke N Zonneveld
series ordinal
4
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Chiara O Pierrottet
series ordinal
5
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Robert K Koenekoop
series ordinal
6
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Ulrich Kellner
series ordinal
7
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L Ingeborgh van den Born
series ordinal
8
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John R Heckenlively
series ordinal
9
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Carel B Hoyng
series ordinal
10
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Penny A Handford
series ordinal
11
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Ronald Roepman
series ordinal
12
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language of work or name
English
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publication date
November 2004
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published in
Human Mutation
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volume
24
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issue
5
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page(s)
355-69
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cites work
Mutations in the CRB1 gene cause Leber congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
21 January 2018
Drosophila Stardust is a partner of Crumbs in the control of epithelial cell polarity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
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7 January 2021
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Merging extracellular domains: fold prediction for laminin G-like and amino-terminal thrombospondin-like modules based on homology to pentraxins
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Discs Lost, a novel multi-PDZ domain protein, establishes and maintains epithelial polarity.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
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inferred from DOI database lookup
Zonula adherens formation in Caenorhabditis elegans requires dlg-1, the homologue of the Drosophila gene discs large
1 reference
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Crossref
reference URL
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retrieved
7 January 2021
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inferred from DOI database lookup
The solution structure of human epidermal growth factor
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
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inferred from DOI database lookup
Molecular genetics of Leber congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
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inferred from DOI database lookup
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
1 reference
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Crossref
reference URL
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retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
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inferred from DOI database lookup
Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
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inferred from DOI database lookup
Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Nonsense-mediated mRNA decay in health and disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
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inferred from DOI database lookup
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
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inferred from DOI database lookup
Key residues involved in calcium-binding motifs in EGF-like domains
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
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inferred from DOI database lookup
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
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inferred from DOI database lookup
Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Amino acid substitution matrices from protein blocks
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Drosophila Stardust interacts with Crumbs to control polarity of epithelia but not neuroblasts.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Drosophila crumbs is required to inhibit light-induced photoreceptor degeneration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
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inferred from DOI database lookup
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
1 reference
stated in
Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
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7 January 2021
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inferred from DOI database lookup
Mutation screening of Pakistani families with congenital eye disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A conserved motif in Crumbs is required for E-cadherin localisation and zonula adherens formation in Drosophila.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
hINADl/PATJ, a homolog of discs lost, interacts with crumbs and localizes to tight junctions in human epithelial cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular effects of calcium binding mutations in Marfan syndrome depend on domain context
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Crumbs interacts with moesin and beta(Heavy)-spectrin in the apical membrane skeleton of Drosophila
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Crumbs3-Pals1 complex participates in the establishment of polarity in mammalian epithelial cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical variations and complications of Coats disease in 150 cases: the 2000 Sanford Gifford Memorial Lecture.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
crumbs encodes an EGF-like protein expressed on apical membranes of Drosophila epithelial cells and required for organization of epithelia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Crumbs, a component of the apical membrane, is required for zonula adherens formation in primary epithelia of Drosophila.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression of a novel secretory form (Crb1s) of mouse Crumbs homologue Crb1 in skin development
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A G1127S change in calcium-binding epidermal growth factor-like domain 13 of human fibrillin-1 causes short range conformational effects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.20093
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.20093
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3329803
OpenCitations bibliographic resource ID
3329803
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3329803
PubMed publication ID
15459956
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3329803
ResearchGate publication ID
8255518
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