Associated Papers
Recurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsy.
Kegele J et al.
Epilepsia, 2025
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf
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
The ANKH ΔE490Mutation in Calcium Pyrophosphate Dihydrate Crystal Deposition Disease (CPPDD) affects tissue non-specific Alkaline Phosphatase (TNAP) activities.
Wang J et al.
The Open Rheumatology Journal, 2008
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
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
Mutations in ANKH cause chondrocalcinosis.
Pendleton A et al.
American Journal of Human Genetics, 2002
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