Associated Papers
Loss of ADAMTS9 disrupts ciliogenesis and collagen homeostasis resulting in Nephronophthisis-like polycystic kidneys.
Fischer S et al.
Biorxiv : the Preprint Server for Biology, 2026
Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes.
Yu S et al.
Frontiers in Medicine, 2023
Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation.
Matsushita HB et al.
Brain & Development, 2022
Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation.
Rim JH et al.
Biomolecules, 2020
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.
Spataro R et al.
Human Genomics, 2019
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
Choi YJ et al.
American Journal of Human Genetics, 2019
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