Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa (Q41543893)

3 October 2017

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa (English)

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3 October 2017

7

Lisette Hetterschijt

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3 October 2017

17

Lonneke Haer-Wigman

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author name string

Thanh-Minh T Nguyen

1

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3 October 2017

Sarah Hull

2

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3 October 2017

Ronald Roepman

3

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3 October 2017

L Ingeborgh van den Born

4

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3 October 2017

Machteld M Oud

5

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3 October 2017

Erik de Vrieze

6

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3 October 2017

Stef J F Letteboer

8

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3 October 2017

Sylvia E C van Beersum

9

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3 October 2017

Ellen A Blokland

10

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3 October 2017

Helger G Yntema

11

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3 October 2017

Frans P M Cremers

12

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3 October 2017

Paul A van der Zwaag

13

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3 October 2017

Gavin Arno

14

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3 October 2017

Erwin van Wijk

15

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3 October 2017

Andrew R Webster

16

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3 October 2017

Lonneke Haer-Wigman

17

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3 October 2017

language of work or name

English

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publication date

25 April 2017

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Journal of Medical Genetics

3 October 2017

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3 October 2017

54

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3 October 2017

9

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3 October 2017

624-632

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describes a project that uses

3 October 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5574394/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

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Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

6 June 2018

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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

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Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

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6 June 2018

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The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions

6 June 2018

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Identifying the hotspots on the top faces of WD40-repeat proteins from their primary sequences by β-bulges and DHSW tetrads

6 June 2018

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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

6 June 2018

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A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain

6 June 2018

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Subcellular spatial regulation of canonical Wnt signalling at the primary cilium

6 June 2018

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Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

6 June 2018

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CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

6 June 2018

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Joubert Syndrome and related disorders

6 June 2018

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Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1

6 June 2018

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Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking

6 June 2018

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Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies

6 June 2018

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

6 June 2018

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Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

6 June 2018

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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

6 June 2018

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Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria

6 June 2018

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Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

6 June 2018

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Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

6 June 2018

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19 August 2018

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Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.

19 August 2018

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A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

19 August 2018

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19 August 2018

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PubMed

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inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2016-104200

1 reference

3 October 2017

1 reference

3 October 2017

1 reference