Genetic disorders associated with the RANKL/OPG/RANK pathway

Risk for Infections During Treatment With Denosumab for Osteoporosis: a Systematic Review and Meta-analysis

(2020) Talia Diker-Cohen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK

(2020) Sean J. Iwamoto et al.   BONE

TNFRSF11A ‐Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum

(2019) Jing‐yi Xue et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Juvenile Paget’s disease with compound heterozygous mutations in TNFRSF11B presenting with recurrent clavicular fractures and a mild skeletal phenotype

(2019) Dorit Naot et al.   BONE

Dysosteosclerosis is also caused by TNFRSF11A mutation

(2018) Long Guo et al.   JOURNAL OF HUMAN GENETICS

Juvenile Paget disease

(2018) Stergios A. Polyzos et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Coupling of bone resorption and formation by RANKL reverse signalling

(2018) Yuki Ikebuchi et al.   NATURE

Roles of the RANKL–RANK axis in antitumour immunity — implications for therapy

(2018) Elizabeth Ahern et al.   Nature Reviews Clinical Oncology

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease

(2016) Gary S. Gottesman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis

(2016) O. Shamriz et al.   CLINICAL GENETICS

Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations

(2016) M.A. Alabdullatif et al.   CLINICAL GENETICS

Loss of Functional Osteoprotegerin: More Than a Skeletal Problem

(2016) Corinna Grasemannn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Familial expansile osteolysis: An Australian case report of a Paget's Disease Mimic

(2015) Dean Grant Topham et al.   Journal of Medical Imaging and Radiation Oncology

Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's disease

(2014) Dorit Naot et al.   BONE

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK

(2014) Michael P. Whyte et al.   BONE

RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease

(2013) Nadia Lo Iacono et al.   Clinical & Developmental Immunology

Juvenile Paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygousTNFRSF11Bmutation

(2013) Forough Saki et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Panostotic Expansile Bone Disease With Massive Jaw Tumor Formation and a Novel Mutation in the Signal Peptide of RANK

(2013) Anne L Schafer et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Effects of RANK-Ligand Antibody (Denosumab) Treatment on Bone Turnover Markers in a Girl With Juvenile Paget's Disease

(2013) Corinna Grasemann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations

(2011) Alessandra Pangrazio et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Early onset Paget's disease of bone caused by a novel mutation (78dup27) of the TNFRSF11A gene in a Chinese family

(2009) Yao-hua Ke et al.   ACTA PHARMACOLOGICA SINICA

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

(2008) Matteo M. Guerrini et al.   AMERICAN JOURNAL OF HUMAN GENETICS