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The Family of Crumbs Genes and Human Disease
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PubMed
review article
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Europe PubMed Central
title
The Family of Crumbs Genes and Human Disease
(English)
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PubMed
author name string
Anne M. Slavotinek
series ordinal
1
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Crossref
language of work or name
English
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PubMed
publication date
October 2016
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PubMed
published in
Molecular syndromology
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PubMed
volume
7
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PubMed
issue
5
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PubMed
page(s)
274-281
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PubMed
cites work
Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
20 March 2017
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
20 March 2017
CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
20 March 2017
CRB1 mutation spectrum in inherited retinal dystrophies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
20 March 2017
Deficiency in Crumbs homolog 2 (Crb2) affects gastrulation and results in embryonic lethality in mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
20 March 2017
Expansion of phenotype and genotypic data in CRB2-related syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
29 September 2017
Cilia in the choroid plexus: their roles in hydrocephalus and beyond.
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
29 September 2017
Common and distinctive localization patterns of Crumbs polarity complex proteins in the mammalian eye
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
29 September 2017
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
29 September 2017
Defects of CRB2 cause steroid-resistant nephrotic syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
29 September 2017
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
29 September 2017
Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
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29 September 2017
The CRB1 and adherens junction complex proteins in retinal development and maintenance.
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
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29 September 2017
Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
29 September 2017
Complexities of Crumbs function and regulation in tissue morphogenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
29 September 2017
CRB1 mutations in inherited retinal dystrophies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
29 September 2017
Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
29 September 2017
The Crumbs complex: from epithelial-cell polarity to retinal degeneration
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
29 September 2017
Leber congenital amaurosis: genes, proteins and disease mechanisms
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
29 September 2017
Composition and function of the Crumbs protein complex in the mammalian retina
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
29 September 2017
Gene therapy into photoreceptors and Müller glial cells restores retinal structure and function in CRB1 retinitis pigmentosa mouse models
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
2 June 2018
Spatial-temporal expressions of Crumbs and Nagie oko and their interdependence in zebrafish central nervous system during early development
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
2 June 2018
oko meduzy and related crumbs genes are determinants of apical cell features in the vertebrate embryo.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
2 June 2018
Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
2 June 2018
Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
2 June 2018
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
27 November 2018
Crumbs 2 prevents cortical abnormalities in mouse dorsal telencephalon.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
27 November 2018
CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
27 November 2018
Sticking together the Crumbs - an unexpected function for an old friend
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
27 November 2018
Mutation in MPDZ causes severe congenital hydrocephalus.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
27 November 2018
Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
27 November 2018
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
27 November 2018
A reverse genetic screen in the zebrafish identifies crb2b as a regulator of the glomerular filtration barrier
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
27 November 2018
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5109986
retrieved
27 November 2018
Crb1 is a determinant of retinal apical Müller glia cell features
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27867342
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
CRB1-Related Maculopathy With Cystoid Macular Edema
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/27867342
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1159/000448109
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stated in
PubMed
PMC publication ID
5109986
0 references
PubMed publication ID
27867342
1 reference
stated in
PubMed
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