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

RNA interference therapy for autosomal dominant osteopetrosis type 2. Towards the preclinical development

(2018) Antonio Maurizi et al.   BONE

Dysosteosclerosis is also caused by TNFRSF11A mutation

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

Successful hematopoietic stem cell transplantation for osteopetrosis using reduced intensity conditioning

(2018) Bella Shadur et al.   PEDIATRIC BLOOD & CANCER

Genetics of Osteopetrosis

(2018) Eleonora Palagano et al.   Current Osteoporosis Reports

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

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1

(2018) Antonia Howaldt et al.   BONE

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

(2017) Dorota Monies et al.   GENETICS IN MEDICINE

Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis

(2017) Ilana Moscatelli et al.   HUMAN GENE THERAPY

The Rab7 effector PLEKHM1 binds Arl8b to promote cargo traffic to lysosomes

(2017) Rituraj Marwaha et al.   JOURNAL OF CELL BIOLOGY

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

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

Evolving Gene Therapy in Primary Immunodeficiency

(2017) Adrian J. Thrasher et al.   MOLECULAR THERAPY

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

(2017) Francesca Schena et al.   STEM CELLS

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

(2017) Eva-Lena Stattin et al.   Scientific Reports

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

(2016) Aman George et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Outcomes after Unrelated Umbilical Cord Blood Transplantation for Children with Osteopetrosis

(2016) Robert Chiesa et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Identification of biallelicLRRK1mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity

(2016) Aritoshi Iida et al.   JOURNAL OF MEDICAL GENETICS

Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial

(2016) Maria Sessa et al.   LANCET

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

Hematopoietic stem cell transplantation for infantile osteopetrosis

(2015) P. J. Orchard et al.   BLOOD

Interferon Gamma, but not Calcitriol Improves the Osteopetrotic Phenotypes in ADO2 Mice

(2015) Imranul Alam et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

(2015) Eleonora Palagano et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Unknown

(2015) Yanping Liu et al.   MOLECULAR MEDICINE

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients

(2015) Q. Pang et al.   OSTEOPOROSIS INTERNATIONAL

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

Non-total body irradiation myeloablative conditioning with intravenous busulfan and cyclophosphamide in hematopoietic stem cell transplantation for malignant infantile osteopetrosis

(2015) Maryam Behfar et al.   PEDIATRIC TRANSPLANTATION

Effective Small Interfering RNA Therapy to Treat CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2

(2015) Mattia Capulli et al.   Molecular Therapy-Nucleic Acids

Mitf regulates osteoclastogenesis by modulating NFATc1 activity

(2014) Ssu-Yi Lu et al.   EXPERIMENTAL CELL RESEARCH

As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in theTCIRG1Gene

(2014) Cristina Sobacchi et al.   JOURNAL OF BONE AND MINERAL RESEARCH

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

Hypohidrotic Ectodermal Dysplasia, Osteopetrosis, Lymphedema, and Immunodeficiency in an Infant with Multiple Opportunistic Infections

(2013) Valerie M. Carlberg et al.   PEDIATRIC DERMATOLOGY

Human leukocyte antigen-haploidentical stem cell transplantation using T-cell-replete bone marrow grafts

(2012) Ephraim J. Fuchs   CURRENT OPINION IN HEMATOLOGY

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia

(2012) André Mégarbané et al.   European Journal of Medical Genetics

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

SNX10mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

(2012) Alessandra Pangrazio et al.   JOURNAL OF BONE AND MINERAL RESEARCH

AnSNX10mutation causes malignant osteopetrosis of infancy

(2012) Memet Aker et al.   JOURNAL OF MEDICAL GENETICS

Denosumab for Post-Transplantation Hypercalcemia in Osteopetrosis

(2012) Rukshana Shroff et al.   NEW ENGLAND JOURNAL OF MEDICINE

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

(2012) Elisa A Colombo et al.   Orphanet Journal of Rare Diseases

Defibrotide for the treatment of hepatic veno-occlusive disease in children after hematopoietic stem cell transplantation

(2012) Selim Corbacioglu et al.   Expert Review of Hematology

ClC-7 is a slowly voltage-gated 2Cl−/1H+-exchanger and requires Ostm1 for transport activity

(2011) Lilia Leisle et al.   EMBO JOURNAL

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

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

Ex vivo gene transfer and correction for cell-based therapies

(2011) Luigi Naldini   NATURE REVIEWS GENETICS

Two mutations in the KINDLIN3 gene of a new leukocyte adhesion deficiency III patient reveal distinct effects on leukocyte function in vitro

(2010) A. McDowall et al.   BLOOD

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID)

(2010) Catherine M. L. Roberts et al.   EUROPEAN JOURNAL OF PEDIATRICS

Hematopoietic Stem Cell Transplantation for Osteopetrosis

(2010) Colin G. Steward   PEDIATRIC CLINICS OF NORTH AMERICA

Endosomal Chloride-Proton Exchange Rather Than Chloride Conductance Is Crucial for Renal Endocytosis

(2010) G. Novarino et al.   SCIENCE

Fetal Liver Cells Transplanted in Utero Rescue the Osteopetrotic Phenotype in the oc/oc Mouse

(2009) Barbara Tondelli et al.   AMERICAN JOURNAL OF PATHOLOGY

RANK/RANKL: Regulators of Immune Responses and Bone Physiology

(2009) Andreas Leibbrandt et al.   Annals of the New York Academy of Sciences

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

(2009) Alessandra Pangrazio et al.   HUMAN MUTATION

Impaired gastric acidification negatively affects calcium homeostasis and bone mass

(2009) Thorsten Schinke et al.   NATURE MEDICINE

Osteopetrosis

(2009) Zornitza Stark et al.   Orphanet Journal of Rare Diseases

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

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

Role of the NF-κB axis in immune modulation of osteoclasts and bone loss

(2008) Yousef Abu-Amer et al.   AUTOIMMUNITY

Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor

(2008) Anna Villa et al.   CALCIFIED TISSUE INTERNATIONAL

OSTM1 regulates β-catenin/Lef1 interaction and is required for Wnt/β-catenin signaling

(2008) Michael E. Feigin et al.   CELLULAR SIGNALLING

Kindlin-3 is essential for integrin activation and platelet aggregation

(2008) Markus Moser et al.   NATURE MEDICINE