Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome (Q27319191)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23028714%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

title

Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23028714%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

1 reference

8

1 reference

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9 March 2020

John A. Sayer

9

1 reference

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9 March 2020

author name string

Yu-Zhu Cheng

1

1 reference

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9 March 2020

Lorraine Eley

2

1 reference

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9 March 2020

Ann-Marie Hynes

3

1 reference

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9 March 2020

Lynne M Overman

4

1 reference

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9 March 2020

Roslyn J Simms

5

1 reference

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9 March 2020

Amy Barker

6

1 reference

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9 March 2020

Helen R Dawe

7

1 reference

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9 March 2020

language of work or name

English

0 references

publication date

24 September 2012

1 reference

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9 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23028714%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

volume

7

1 reference

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9 March 2020

issue

9

1 reference

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9 March 2020

page(s)

e44975

1 reference

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Creative Commons Attribution 4.0 International

9 March 2020

copyright license

start time

24 September 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3454386/fullTextXML

inferred from PubMed Central ID database lookup

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TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

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

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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

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CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

21 March 2017

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Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

21 March 2017

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Jouberin localizes to collecting ducts and interacts with nephrocystin-1

21 March 2017

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CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

21 March 2017

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

21 March 2017

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

21 March 2017

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

21 March 2017

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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

21 March 2017

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

21 March 2017

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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

21 March 2017

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

21 March 2017

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Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

21 March 2017

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21 March 2017

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21 March 2017

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21 March 2017

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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

21 March 2017

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Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

21 March 2017

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

21 March 2017

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Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development

21 March 2017

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AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

21 March 2017

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21 March 2017

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Mutations in Hydin impair ciliary motility in mice

21 March 2017

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21 March 2017

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21 March 2017

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21 March 2017

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

28 September 2017

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Multiple primary cilia modulate the fluid transcytosis in choroid plexus epithelium

28 September 2017

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Clinical and molecular features of Joubert syndrome and related disorders

28 September 2017

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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

28 September 2017

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Genotypes and phenotypes of Joubert syndrome and related disorders

28 September 2017

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

28 September 2017

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

28 September 2017

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28 September 2017

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28 September 2017

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

28 September 2017

1 reference

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Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship

28 September 2017

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28 September 2017

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"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation

31 May 2018

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Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

31 May 2018

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Ophthalmological findings in Joubert syndrome.

28 November 2018

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Heat shock transcription factor 1 is required for maintenance of ciliary beating in mice.

28 November 2018

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Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

28 November 2018

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

28 November 2018

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Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus

28 November 2018

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Planar cell polarity and the kidney

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PubMed

https://pubmed.ncbi.nlm.nih.gov/23028714

12 December 2020

inferred from PubMed ID database lookup

Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation

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PubMed

https://pubmed.ncbi.nlm.nih.gov/23028714

12 December 2020

inferred from PubMed ID database lookup

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https://pubmed.ncbi.nlm.nih.gov/23028714

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1371/JOURNAL.PONE.0044975

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23028714%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23028714%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

PubMed publication ID

23028714

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23028714%20AND%20SRC:MED&resulttype=core&format=json