Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration (Q28511973)

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English	Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration	scientific journal article

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scholarly article

2 references

25 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24833722%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration (English)

2 references

25 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24833722%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

photoreceptor protein

0 references

Family with sequence similarity 161, member A

1 reference

GOA release 2020-03-11

Leber congenital amaurosis 5 (human)

1 reference

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Bardet-Biedl syndrome 5 (human)

1 reference

GOA release 2020-03-11

Retinitis pigmentosa 1 (human)

1 reference

GOA release 2020-03-11

retinal degeneration

1 reference

based on heuristic

inferred from title

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

retinitis pigmentosa 28

1 reference

based on heuristic

inferred from title

9

1 reference

Europe PubMed Central

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18 March 2020

author name string

Marcus Karlstetter

1

2 references

25 January 2017

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18 March 2020

Nasrin Sorusch

2

2 references

25 January 2017

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18 March 2020

Albert Caramoy

3

2 references

25 January 2017

Europe PubMed Central

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18 March 2020

Katharina Dannhausen

4

2 references

25 January 2017

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18 March 2020

Alexander Aslanidis

5

2 references

25 January 2017

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18 March 2020

Sascha Fauser

6

2 references

25 January 2017

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18 March 2020

Kerstin Nagel-Wolfrum

8

2 references

25 January 2017

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18 March 2020

Herbert Jägle

10

2 references

25 January 2017

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18 March 2020

Heidi Stoehr

11

2 references

25 January 2017

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18 March 2020

Uwe Wolfrum

12

2 references

25 January 2017

Europe PubMed Central

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18 March 2020

Thomas Langmann

13

2 references

25 January 2017

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18 March 2020

Michael R Boesl

7

1 reference

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18 March 2020

publication date

15 May 2014

1 reference

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18 March 2020

Human Molecular Genetics

2 references

25 January 2017

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18 March 2020

23

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25 January 2017

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18 March 2020

19

2 references

25 January 2017

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18 March 2020

5197-5210

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24833722%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Retinitis pigmentosa: cone photoreceptors starving to death.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Retinitis pigmentosa and allied conditions today: a paradigm of translational research

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Photoreceptor cell death and rescue in retinal detachment and degenerations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Suppression of nonsense-mediated mRNA decay permits unbiased gene trapping in mouse embryonic stem cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

The Rd8 mutation of the Crb1 gene is present in vendor lines of C57BL/6N mice and embryonic stem cells, and confounds ocular induced mutant phenotypes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

RP1 is required for the correct stacking of outer segment discs

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Light-dependent phosphorylation of Bardet-Biedl syndrome 5 in photoreceptor cells modulates its interaction with arrestin1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Centrins in retinal photoreceptor cells: regulators in the connecting cilium

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Intraflagellar transport

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Intraflagellar transport molecules in ciliary and nonciliary cells of the retina

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

IFT20 is required for opsin trafficking and photoreceptor outer segment development

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Mechanisms of photoreceptor death and survival in mammalian retina.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Microglia in the healthy and degenerating retina: insights from novel mouse models

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Retina-derived microglial cells induce photoreceptor cell death in vitro

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Microglia in the mouse retina alter the structure and function of retinal pigmented epithelial cells: a potential cellular interaction relevant to AMD.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Transport of truncated rhodopsin and its effects on rod function and degeneration

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Proteasome overload is a common stress factor in multiple forms of inherited retinal degeneration

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

The transition zone: an essential functional compartment of cilia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Beyond counting photons: trials and trends in vertebrate visual transduction

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Characterization of peripherin/rds and rom-1 transport in rod photoreceptors of transgenic and knockout animals

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

A simple polymerase chain reaction assay for genotyping the retinal degeneration mutation (Pdeb(rd1)) in FVB/N-derived transgenic mice.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Progressive retinal degeneration and glial activation in the CLN6 (nclf) mouse model of neuronal ceroid lipofuscinosis: a beneficial effect of DHA and curcumin supplementation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Constitutive overexpression of Norrin activates Wnt/β-catenin and endothelin-2 signaling to protect photoreceptors from light damage

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU242

21 January 2018

Identifiers

10.1093/HMG/DDU242

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24833722%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

2 references

25 January 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24833722%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

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