Associated Papers
Mutations in Osteoclast Genes as Causes of Osteoclast-Related Diseases.
Živković JM et al.
Dna and Cell Biology, 2025
Molecular and functional mapping of Plekhm1-Rab7 interaction in osteoclasts.
Das BK et al.
Jbmr Plus, 2024
Integrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture.
Hao X et al.
Nature Communications, 2023
Clinical, genetic aspects and molecular pathogenesis of osteopetrosis.
Nadyrshina DD et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage.
Ali A et al.
Cureus, 2020
The Genetic Architecture of High Bone Mass.
Gregson CL et al.
Frontiers in Endocrinology, 2020
Characterization of a Relatively Malignant Form of Osteopetrosis Caused by a Novel Mutation in the PLEKHM1 Gene.
Bo T et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
The R740S mutation in the V-ATPase a3 subunit results in osteoclast apoptosis and defective early-stage autophagy.
Ochotny N et al.
Journal of Cellular Biochemistry, 2013
LIS1 regulates osteoclast formation and function through its interactions with dynein/dynactin and Plekhm1.
Ye S et al.
Plos One, 2011
A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts.
Del Fattore A et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2008
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