Genetic complexity in Joubert syndrome and related disorders (Q37018625)

17 August 2017

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title

Genetic complexity in Joubert syndrome and related disorders (English)

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Joubert syndrome and related disorders

17 August 2017

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Harris PC

1

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PubMed ID

18046420

17 August 2017

language of work or name

English

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publication date

1 December 2007

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17 August 2017

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17 August 2017

72

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17 August 2017

12

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17 August 2017

1421-1423

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https://scigraph.springernature.com/pub.10.1038/sj.ki.5002577

17 August 2017

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

The Fused toes (Ft) mouse mutation causes anteroposterior and dorsoventral polydactyly.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

Defects in brain patterning and head morphogenesis in the mouse mutant Fused toes.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

Nephronophthisis-associated ciliopathies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

Joubert syndrome (and related disorders) (OMIM 213300).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

The Ciliopathies: An Emerging Class of Human Genetic Disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

The primary cilium as the cell's antenna: signaling at a sensory organelle

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

Evidence of Oligogenic Inheritance in Nephronophthisis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5002577

7 January 2021

Identifiers

DOI

10.1038/SJ.KI.5002577

1 reference

17 August 2017

1 reference

PubMed ID

18046420