Varaico: Literature-Extracted Genetic Variants

Gene:ANKS6
Variant:p.R823W
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ANKS6

NM_173551.5:p.R823W

Associated Papers

The Han:SPRD Rat: A Preclinical Model of Polycystic Kidney Disease.

Kofotolios I et al.

Biomedicines, 2024

Experimental Models of Polycystic Kidney Disease: Applications and Therapeutic Testing.

Sieben CJ et al.

Kidney360, 2023

37418622 (PubMed )
Supplement: kidney360-4-1155-s001.pdf

Loss of Anks6 leads to YAP deficiency and liver abnormalities.

Airik M et al.

Human Molecular Genetics, 2020

Role of the RNA-binding protein Bicaudal-C1 and interacting factors in cystic kidney diseases.

Rothé B et al.

Cellular Signalling, 2020

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

Ashraf S et al.

Nature Communications, 2018

Influence of the R823W mutation on the interaction of the ANKS6-ANKS3: insights from molecular dynamics simulation and free energy analysis.

Kan W et al.

Journal of Biomolecular Structure & Dynamics, 2016

The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes.

Bakey Z et al.

Kidney International, 2015

Anks3 interacts with nephronophthisis proteins and is required for normal renal development.

Yakulov TA et al.

Kidney International, 2015

ANKS3 Co-Localises with ANKS6 in Mouse Renal Cilia and Is Associated with Vasopressin Signaling and Apoptosis In Vivo in Mice.

Delestré L et al.

Plos One, 2015

Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.

Taskiran EZ et al.

Journal of the American Society of Nephrology : Jasn, 2014

Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3.

Leettola CN et al.

Bmc Structural Biology, 2014

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.

Hoff S et al.

Nature Genetics, 2013

Animal models for human polycystic kidney disease.

Nagao S et al.

Experimental Animals, 2012

Polycystic kidney disease in Han:SPRD Cy rats is associated with elevated expression and mislocalization of SamCystin.

Nagao S et al.

American Journal of Physiology. Renal Physiology, 2010

The polycystic kidney disease-related proteins Bicc1 and SamCystin interact.

Stagner EE et al.

Biochemical and Biophysical Research Communications, 2009

Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat.

Brown JH et al.

Journal of the American Society of Nephrology : Jasn, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."