Varaico: Literature-Extracted Genetic Variants

Gene:ARL13B
Variant:p.R79Q
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ARL13B

NM_001174150.2:p.R79Q

Associated Papers

Ciliary ARLs drive renal cystogenesis.

Van Sciver RE et al.

Biorxiv : the Preprint Server for Biology, 2025

Ciliary ARL13B Is Essential for Vision and Morphogenesis of Cone Outer Segments.

Crockett A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025

Knocking out ARL13B completely abolishes primary ciliogenesis in cell lines.

Mahajan D et al.

Scientific Reports, 2025

Ciliary ARL13B is essential for body weight regulation in adult mice.

Terry TT et al.

Biorxiv : the Preprint Server for Biology, 2025

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2

Ciliary ARL13B inhibits developmental kidney cystogenesis in mouse.

Van Sciver RE et al.

Developmental Biology, 2023

Ciliary ARL13B inhibits developmental kidney cystogenesis in mouse.

Van Sciver RE et al.

Biorxiv : the Preprint Server for Biology, 2023

Loss of ARL13 impedes BBSome-dependent cargo export from Chlamydomonas cilia.

Dai J et al.

The Journal of Cell Biology, 2022

The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.

Van De Weghe JC et al.

Annual Review of Genomics and Human Genetics, 2022

Ciliogenesis mechanisms mediated by PAK2-ARL13B signaling in brain endothelial cells is responsible for vascular stability.

Thirugnanam K et al.

Biochemical Pharmacology, 2022

Smoothened and ARL13B are critical in mouse for superior cerebellar peduncle targeting.

Suciu SK et al.

Genetics, 2021

Primary Cilia Signaling Promotes Axonal Tract Development and Is Disrupted in Joubert Syndrome-Related Disorders Models.

Guo J et al.

Developmental Cell, 2019

The Ciliary Protein Arl13b Functions Outside of the Primary Cilium in Shh-Mediated Axon Guidance.

Ferent J et al.

Cell Reports, 2019

The Joubert syndrome protein ARL13B binds tubulin to maintain uniform distribution of proteins along the ciliary membrane.

Revenkova E et al.

Journal of Cell Science, 2018

The guanine nucleotide exchange factor Arf-like protein 13b is essential for assembly of the mouse photoreceptor transition zone and outer segment.

Hanke-Gogokhia C et al.

The Journal of Biological Chemistry, 2017

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.

Rafiullah R et al.

European Journal of Human Genetics : Ejhg, 2017

Primary Cilia Signaling Shapes the Development of Interneuronal Connectivity.

Guo J et al.

Developmental Cell, 2017

Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 guanine nucleotide exchange factor (GEF).

Ivanova AA et al.

The Journal of Biological Chemistry, 2017

Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E.

Nozaki S et al.

Journal of Cell Science, 2017

Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts.

Li Y et al.

Journal of the American Society of Nephrology : Jasn, 2016

Arl13b regulates Shh signaling from both inside and outside the cilium.

Mariani LE et al.

Molecular Biology of the Cell, 2016

A function for the Joubert syndrome protein Arl13b in ciliary membrane extension and ciliary length regulation.

Lu H et al.

Developmental Biology, 2015

The molecular basis of retinal dystrophies in pakistan.

Khan MI et al.

Genes, 2014

Molecular views of Arf-like small GTPases in cilia and ciliopathies.

Zhang Q et al.

Experimental Cell Research, 2013

Rab and Arf proteins in genetic diseases.

Seixas E et al.

Traffic (copenhagen, Denmark), 2013

Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.

Cevik S et al.

Plos Genetics, 2013

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.

Humbert MC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2012

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

Higginbotham H et al.

Developmental Cell, 2012

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

Li Y et al.

The Journal of Cell Biology, 2010

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