CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice (Q43515769)

24 November 2017

title

CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice (English)

1 reference

24 November 2017

1

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7 June 2020

Jan Wijnholds

11

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7 June 2020

author name string

Ditte M S Lundvig

2

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7 June 2020

Naoyuki Tanimoto

3

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7 June 2020

Jan Klooster

4

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7 June 2020

Rogier M Vos

5

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7 June 2020

Fabrice Richard

6

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7 June 2020

Vithiyanjali Sothilingam

7

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7 June 2020

Marina Garcia Garrido

8

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7 June 2020

André Le Bivic

9

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7 June 2020

Mathias W Seeliger

10

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7 June 2020

publication date

23 February 2014

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24 November 2017

published in

Human Molecular Genetics

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7 June 2020

volume

23

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7 June 2020

issue

14

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7 June 2020

page(s)

3759-3771

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7 June 2020

1 reference

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Leber congenital amaurosis: genes, proteins and disease mechanisms

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CRB1 mutation spectrum in inherited retinal dystrophies

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

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CRB1 mutations in inherited retinal dystrophies

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Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

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Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model

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

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Composition and function of the Crumbs protein complex in the mammalian retina

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Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Muller glia cells

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

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

21 January 2018

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MPP5 recruits MPP4 to the CRB1 complex in photoreceptors

21 January 2018

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

21 January 2018

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CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

21 January 2018

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Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene

21 January 2018

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Targeted ablation of Crb2 in photoreceptor cells induces retinitis pigmentosa.

21 January 2018

1 reference

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Targeted ablation of CRB1 and CRB2 in retinal progenitor cells mimics Leber congenital amaurosis

21 January 2018

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

21 January 2018

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Genetic analysis of the homeodomain transcription factor Chx10 in the retina using a novel multifunctional BAC transgenic mouse reporter

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Thyroid hormone and retinal development: an emerging field

21 January 2018

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Making the gradient: thyroid hormone regulates cone opsin expression in the developing mouse retina

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A thyroid hormone receptor that is required for the development of green cone photoreceptors

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Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development

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hINADl/PATJ, a homolog of discs lost, interacts with crumbs and localizes to tight junctions in human epithelial cells

21 January 2018

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Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain

21 January 2018

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Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles

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Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

21 January 2018

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Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population

21 January 2018

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Deficiency in Crumbs homolog 2 (Crb2) affects gastrulation and results in embryonic lethality in mice

21 January 2018

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Mpp4 recruits Psd95 and Veli3 towards the photoreceptor synapse

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MPP3 regulates levels of PALS1 and adhesion between photoreceptors and Müller cells.

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PALS1 is essential for retinal pigment epithelium structure and neural retina stratification.

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Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa

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Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background

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