(Q24297877)

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

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scholarly article

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22940612%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22940612%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

FAM161 centrosomal protein A

1 reference

GOA release 2020-03-11

cilium assembly

1 reference

GOA release 2020-03-11

Family with sequence similarity 161, member A

1 reference

GOA release 2020-03-11

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

Silvio Alessandro Di Gioia

1

1 reference

Europe PubMed Central

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12 February 2020

3

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12 February 2020

9

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12 February 2020

Lisette Hetterschijt

5

object named as

Lisette Hetterschijt

1 reference

Europe PubMed Central

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12 February 2020

6

object named as

Dror Sharon

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12 February 2020

author name string

Stef J F Letteboer

2

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12 February 2020

Dikla Bandah-Rozenfeld

4

1 reference

Europe PubMed Central

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12 February 2020

Yvan Arsenijevic

7

1 reference

Europe PubMed Central

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12 February 2020

Ronald Roepman

8

1 reference

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12 February 2020

language of work or name

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publication date

1 September 2012

1 reference

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12 February 2020

Human Molecular Genetics

1 reference

Europe PubMed Central

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12 February 2020

21

1 reference

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12 February 2020

23

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12 February 2020

5174-5184

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22940612%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

The molecular basis of human retinal and vitreoretinal diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

The retinal ciliopathies.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Modeling human disease in humans: the ciliopathies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

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%2FDDS368

21 January 2018

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

The proteome of the mouse photoreceptor sensory cilium complex

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Centrin in the photoreceptor cells of mammalian retinae

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

The forkhead-associated domain protein Cep170 interacts with Polo-like kinase 1 and serves as a marker for mature centrioles

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

The PCM-basal body/primary cilium coalition

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

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%2FDDS368

21 January 2018

Ofd1, a human disease gene, regulates the length and distal structure of centrioles

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

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%2FDDS368

21 January 2018

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Retinal incorporation and differentiation of neural precursors derived from human embryonic stem cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Versatile screening for binary protein-protein interactions by yeast two-hybrid mating

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

21 January 2018

Protein networks and complexes in photoreceptor cilia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS368

7 January 2021

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Identifiers

10.1093/HMG/DDS368

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Consolidated OpenCitations Corpus – April 2017

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22940612%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

release_ugnwabw52valfcvylejoa7eb5q

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https://api.fatcat.wiki/v0/release/ugnwabw52valfcvylejoa7eb5q

24 November 2022

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mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22940612%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

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