Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development (Q28506685)

24 January 2017

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13 February 2020

title

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

2 references

24 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21959375%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

0 references

1 reference

GOA release 2020-03-11

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7

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13 February 2020

author name string

Ann Marie Hynes

2

2 references

24 January 2017

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13 February 2020

Lorraine Eley

3

2 references

24 January 2017

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13 February 2020

David Inglis

4

2 references

24 January 2017

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13 February 2020

Bill Chaudhry

5

2 references

24 January 2017

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13 February 2020

Roslyn J Simms

1

1 reference

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13 February 2020

Helen R Dawe

6

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13 February 2020

publication date

29 September 2011

1 reference

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Cellular and Molecular Life Sciences

13 February 2020

published in

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24 January 2017

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13 February 2020

volume

69

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24 January 2017

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13 February 2020

issue

6

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24 January 2017

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13 February 2020

page(s)

993-1009

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

13 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Ophthalmological findings in Joubert syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Joubert Syndrome and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Nephronophthisis: disease mechanisms of a ciliopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

The primary cilium as a complex signaling center

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Jouberin localizes to collecting ducts and interacts with nephrocystin-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

A southpaw joins the roster: the role of the zebrafish nodal-related gene southpaw in cardiac LR asymmetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Basic local alignment search tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

SMART, a simple modular architecture research tool: identification of signaling domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

SMART 6: recent updates and new developments

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Predicting coiled coils from protein sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Stages of embryonic development of the zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Germ-line transmission of a myocardium-specific GFP transgene reveals critical regulatory elements in the cardiac myosin light chain 2 promoter of zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Two T-box genes play independent and cooperative roles to regulate morphogenesis of ciliated Kupffer's vesicle in zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

High-resolution in situ hybridization to whole-mount zebrafish embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

The Cerberus/Dan-family protein Charon is a negative regulator of Nodal signaling during left-right patterning in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

A functionally conserved homolog of the Drosophila segment polarity gene hh is expressed in tissues with polarizing activity in zebrafish embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Restricted expression of cardiac myosin genes reveals regulated aspects of heart tube assembly in zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Expression, purification, crystallization and preliminary X-ray crystallographic analysis of the SH3 domain of human AHI1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Molecular cloning of a novel gene ZAhi-1 and its expression analysis during zebrafish gametogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

The Rho kinase Rock2b establishes anteroposterior asymmetry of the ciliated Kupffer's vesicle in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Heart and gut chiralities are controlled independently from initial heart position in the developing zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Functional analysis of tight junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Epithelial polarity and tubulogenesis in vitro.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Proteomic analysis of isolated chlamydomonas centrioles reveals orthologs of ciliary-disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

The proteome of the mouse photoreceptor sensory cilium complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Flagellar motility is required for the viability of the bloodstream trypanosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

The Chlorella variabilis NC64A genome reveals adaptation to photosymbiosis, coevolution with viruses, and cryptic sex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Reconstructing the evolutionary history of the centriole from protein components

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

The RJL family of small GTPases is an ancient eukaryotic invention probably functionally associated with the flagellar apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Pix proteins and the evolution of centrioles

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Intraflagellar transport: it's not just for cilia anymore

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Cell biology of polycystin-2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Neuropathology of Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Cerebellar and brainstem development: an overview in relation to Joubert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

The zebrafish pronephros: a model to study nephron segmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Mutations in zebrafish leucine-rich repeat-containing six-like affect cilia motility and result in pronephric cysts, but have variable effects on left-right patterning

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Zebrafish mutations affecting cilia motility share similar cystic phenotypes and suggest a mechanism of cyst formation that differs from pkd2 morphants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0826-Z

Left-right pattern of cardiac BMP4 may drive asymmetry of the heart in zebrafish.

21 January 2018

1 reference

12 December 2020

Definition of individual components within the cytoskeleton of Trypanosoma brucei by a library of monoclonal antibodies.

1 reference

12 December 2020

1 reference

12 December 2020

Mutations affecting development of the zebrafish retina

1 reference

12 December 2020

10.1007/S00018-011-0826-Z

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DOI

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21959375%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017