(Q39774231)

14 September 2017

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity (English)

1 reference

14 September 2017

0 references

1 reference

11

1 reference

14 September 2017

16

Tania Attié-Bitach

0 references

Vincent Cantagrel

Vincent Cantagrel

2

0 references

Tamara Caspary

Tamara Caspary

14

0 references

Nathalie Boddaert

Nathalie Boddaert

10

0 references

Valérie Serre

Valérie Serre

4

0 references

Arnold Munnich

9

Arnold Munnich

1 reference

14 September 2017

15

Joseph Gleeson

1 reference

14 September 2017

1

Sophie Thomas

1 reference

14 September 2017

8

Isabelle Desguerre

1 reference

14 September 2017

12

Michel Vekemans

1 reference

14 September 2017

6

Nadia Elkhartoufi

1 reference

14 September 2017

7

Pascale de Lonlay

1 reference

14 September 2017

Laura Mariani

3

1 reference

14 September 2017

Ji-Eun Lee

5

1 reference

14 September 2017

Steven N Lisgo

13

1 reference

14 September 2017

20 August 2014

1 reference

European Journal of Human Genetics

14 September 2017

1 reference

14 September 2017

23

1 reference

14 September 2017

5

1 reference

14 September 2017

621-627

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.156

14 September 2017

0 references

cites work

Structural insights into the small G-protein Arl13B and implications for Joubert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Joubert syndrome and related disorders

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Arl13b regulates ciliogenesis and the dynamic localization of Shh signaling proteins

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

High-fat feeding promotes obesity via insulin receptor/PI3K-dependent inhibition of SF-1 VMH neurons

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

The small GTPases ARL-13 and ARL-3 coordinate intraflagellar transport and ciliogenesis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

The SWISS-MODEL Repository and associated resources

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Cerebellar development and disease

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

The graded response to Sonic Hedgehog depends on cilia architecture

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

The Ciliopathies: An Emerging Class of Human Genetic Disorders

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

The rise, fall, and resurrection of the ventromedial hypothalamus in the regulation of feeding behavior and body weight

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Hedgehog signalling in the mouse requires intraflagellar transport proteins

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Leptin directly activates SF1 neurons in the VMH, and this action by leptin is required for normal body-weight homeostasis

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4402632

Cilia Proteins Control Cerebellar Morphogenesis by Promoting Expansion of the Granule Progenitor Pool

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25138100

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Nutrition Classics. The Anatomical Record, Volume 78, 1940: Hypothalamic lesions and adiposity in the rat

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25138100

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The Swiss-3DImage collection and PDB-Browser on the World-Wide Web

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25138100

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.156

1 reference

14 September 2017

1 reference

14 September 2017

PubMed publication ID

25138100

1 reference