Varaico: Literature-Extracted Genetic Variants

Gene:ANKH
Variant:p.P5L
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ANKH

NM_054027.6:p.P5L

Associated Papers

Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia.

Vijen S et al.

Scientific Reports, 2020

Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia.

Gruber BL et al.

Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases, 2012

Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.

Zajac A et al.

American Journal of Medical Genetics. Part A, 2010

The CPPDD-associated ANKH M48T mutation interrupts the interaction of ANKH with the sodium/phosphate cotransporter PiT-1.

Wang J et al.

The Journal of Rheumatology, 2009

Genetics and experimental models of crystal-induced arthritis. Lessons learned from mice and men: is it crystal clear?

Reginato AM et al.

Current Opinion in Rheumatology, 2007

The new bone biology: pathologic, molecular, and clinical correlates.

Cohen MM

American Journal of Medical Genetics. Part A, 2006

P5L mutation in Ank results in an increase in extracellular inorganic pyrophosphate during proliferation and nonmineralizing hypertrophy in stably transduced ATDC5 cells.

Zaka R et al.

Arthritis Research & Therapy, 2006

Genetics of chondrocalcinosis.

Zaka R et al.

Osteoarthritis and Cartilage, 2005

Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease.

Williams CJ et al.

Arthritis and Rheumatism, 2003

Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene.

Williams CJ

Current Opinion in Rheumatology, 2003

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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."