Osteoclast-poor osteopetrosis

A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis

(2022) Tarık Kırkgöz et al.   Frontiers in Genetics

RANKL as the master regulator of osteoclast differentiation

(2021) Hiroshi Takayanagi   JOURNAL OF BONE AND MINERAL METABOLISM

Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis

(2021) Jing-Yi Xue et al.   JOURNAL OF HUMAN GENETICS

Insertion Mutation in Tnfrsf11a Causes a Paget's Disease–Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice

(2021) Nerea Alonso et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A novel mutation in TNFRSF11A gene causes pediatric osteopetrosis: case report

(2021) You Xu et al.   BMC Surgery

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

(2021) Pongtawat Lertwilaiwittaya et al.   Molecular Genetics & Genomic Medicine

Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis

(2021) Ehud Even-Or et al.   BONE

A Homozygous Mutation in 5′ Untranslated Region of TNFRSF11A Leading to Molecular Diagnosis of Osteopetrosis Coinheritance With Wiskott-Aldrich Syndrome

(2020) Tianping Chen et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Genetic disorders associated with the RANKL/OPG/RANK pathway

(2020) Jing-Yi Xue et al.   JOURNAL OF BONE AND MINERAL METABOLISM

A missense mutation sheds light on a novel structure–function relationship of RANKL

(2020) Heng Qiu et al.   JOURNAL OF CELLULAR PHYSIOLOGY

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins

(2020) Jing-Yi Xue et al.   JOURNAL OF HUMAN GENETICS

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

(2019) Sara Penna et al.   Frontiers in Endocrinology

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

Dysosteosclerosis is also caused by TNFRSF11A mutation

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

Coupling of bone resorption and formation by RANKL reverse signalling

(2018) Yuki Ikebuchi et al.   NATURE

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

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

Osteoblast-Derived Extracellular Vesicles Are Biological Tools for the Delivery of Active Molecules to Bone

(2017) Alfredo Cappariello et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Murine Rankl−/− Mesenchymal Stromal Cells Display an Osteogenic Differentiation Defect Improved by a RANKL-Expressing Lentiviral Vector

(2017) Francesca Schena et al.   STEM CELLS

Stem cell-based bone regeneration in diseased microenvironments: Challenges and solutions

(2017) Bing-Dong Sui et al.   BIOMATERIALS

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

(2016) O. Shamriz et al.   CLINICAL GENETICS

Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds

(2016) Natalia Simanovsky et al.   PEDIATRIC BLOOD & CANCER

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

Partial depletion of TCR alpha/beta+/ CD19+ cells in matched unrelated transplantation of three patients with osteopetrosis

(2015) F Porta et al.   BONE MARROW TRANSPLANTATION

IL-10 Critically Modulates B Cell Responsiveness inRankl−/−Mice

(2015) Veronica Marrella et al.   JOURNAL OF IMMUNOLOGY

Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning

(2015) Juma Natsheh et al.   PEDIATRIC BLOOD & CANCER

RANK receptor oligomerisation in the regulation of NF B signalling

(2014) S. Das et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

(2013) Claus-Eric Ott 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

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient

(2012) Alessandra Pangrazio et al.   CALCIFIED TISSUE INTERNATIONAL

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

(2012) P. M. Campeau et al.   HUMAN MOLECULAR GENETICS

Osteopetrosis rescue upon RANKL administration toRankl−/−mice: A new therapy for human RANKL-dependent ARO

(2012) Nadia Lo Iacono et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications

(2012) A. Pangrazio et al.   OSTEOPOROSIS INTERNATIONAL

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

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

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

Adipocyte differentiation defect in mesenchymal stromal cells of patients with malignant infantile osteopetrosis

(2009) D. Uckan et al.   CYTOTHERAPY

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

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

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

(2008) Taksum Cheng et al.   MOLECULAR ENDOCRINOLOGY