Associated Papers
Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.
Lertwilaiwittaya P et al.
Molecular Genetics & Genomic Medicine, 2021
A missense mutation sheds light on a novel structure-function relationship of RANKL.
Qiu H et al.
Journal of Cellular Physiology, 2021
Genetic disorders associated with the RANKL/OPG/RANK pathway.
Xue JY et al.
Journal of Bone and Mineral Metabolism, 2021
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare disease.
Lo Iacono N et al.
Clinical & Developmental Immunology, 2013
A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF.
Douni E et al.
Human Molecular Genetics, 2012
New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis.
Crockett JC et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2011
Structure-based development of a receptor activator of nuclear factor-kappaB ligand (RANKL) inhibitor peptide and molecular basis for osteopetrosis.
Ta HM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Structural and functional insights of RANKL-RANK interaction and signaling.
Liu C et al.
Journal of Immunology (baltimore, Md. : 1950), 2010
Mutations within the TNF-like core domain of RANKL impair osteoclast differentiation and activation.
Cheng T et al.
Molecular Endocrinology (baltimore, Md.), 2009
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
Sobacchi C et al.
Nature Genetics, 2007