Identification of novel mutation in RANKL by whole‐exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis

RANKL/RANK/OPG system beyond bone remodeling: involvement in breast cancer and clinical perspectives

(2019) Marco Infante et al.   JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH

One Disease, Many Genes: Implications for the Treatment of Osteopetroses

(2019) Sara Penna et al.   Frontiers in Endocrinology

Interferon gamma‐1b does not increase markers of bone resorption in autosomal dominant osteopetrosis

(2019) Erik A. Imel et al.   JOURNAL OF BONE AND MINERAL RESEARCH

VarAFT: a variant annotation and filtration system for human next generation sequencing data

(2018) Jean-Pierre Desvignes et al.   NUCLEIC ACIDS RESEARCH

Genetics of Osteopetrosis

(2018) Eleonora Palagano et al.   Current Osteoporosis Reports

Maxillary osteomyelitis associated with osteopetrosis: systematic review

(2018) Pedro Henrique de Azambuja Carvalho et al.   JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY

MSC-Seeded Biomimetic Scaffolds as a Factory of Soluble RANKL in Rankl-Deficient Osteopetrosis

(2018) Ciro Menale et al.   Stem Cells Translational Medicine

Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group

(2017) Calvin C Wu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome

(2017) Bhoom Suktitipat et al.   PLoS One

LGR4 is a receptor for RANKL and negatively regulates osteoclast differentiation and bone resorption

(2016) Jian Luo et al.   NATURE MEDICINE

Biotechnological approach for systemic delivery of membrane Receptor Activator of NF-κB Ligand (RANKL) active domain into the circulation

(2015) Alfredo Cappariello et al.   BIOMATERIALS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

HLA-DRB1 and HLA-DQB1 Are Associated with Adult-Onset Immunodeficiency with Acquired Anti-Interferon-Gamma Autoantibodies

(2015) Manop Pithukpakorn et al.   PLoS One

Receptor activator of nuclear factor-κB ligand (RANKL)/RANK/osteoprotegerin system in bone and other tissues (Review)

(2015) WEI LIU et al.   Molecular Medicine Reports

Biology of the RANKL–RANK–OPG System in Immunity, Bone, and Beyond

(2014) Matthew C. Walsh et al.   Frontiers in Immunology

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

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

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF

(2011) Eleni Douni et al.   HUMAN MOLECULAR GENETICS

Mutations within the TNF-Like Core Domain of RANKL Impair Osteoclast Differentiation and Activation

(2008) Taksum Cheng et al.   MOLECULAR ENDOCRINOLOGY