Osteopetrosis: genetics, treatment and new insights into osteoclast function. - Wikidata - awgldk - TriplyDB

Osteopetrosis: genetics, treatment and new insights into osteoclast function.

Osteopetrosis: genetics, treatment and new insights into osteoclast function.

http://www.wikidata.org/entity/Q38123371

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Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery Targeted Delivery Systems for Molecular Therapy in Skeletal Disorders Biology of Bone Tissue: Structure, Function, and Factors That Influence Bone Cells Studies of OC-STAMP in Osteoclast Fusion: A New Knockout Mouse Model, Rescue of Cell Fusion, and Transmembrane Topology Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking.Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts Soluble Factors on Stage to Direct Mesenchymal Stem Cells Fate.Activity-independent targeting of mTOR to lysosomes in primary osteoclasts SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.Sphingosine 1-phosphate signaling in bone remodeling: multifaceted roles and therapeutic potential Osteoclasts: more than 'bone eaters'.Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK Hematopoietic stem cell transplantation for infantile osteopetrosis.As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.Minireview: nuclear receptor regulation of osteoclast and bone remodeling.Biotechnological approach for systemic delivery of membrane Receptor Activator of NF-κB Ligand (RANKL) active domain into the circulation.Rapid skeletal turnover in a radiographic mimic of osteopetrosis.Signaling pathways in osteogenesis and osteoclastogenesis: Lessons from cranial sutures and applications to regenerative medicine.TRAFD1 (FLN29) Interacts with Plekhm1 and Regulates Osteoclast Acidification and Resorption The Foreign Body Giant Cell Cannot Resorb Bone, But Dissolves Hydroxyapatite Like Osteoclasts Dental and Cranial Pathologies in Mice Lacking the Cl(-) /H(+) -Exchanger ClC-7 Regulation and Function of Lentiviral Vector-Mediated TCIRG1 Expression in Osteoclasts from Patients with Infantile Malignant Osteopetrosis: Implications for Gene Therapy.FOXO1 inhibits osteoclastogenesis partially by antagnozing MYC.Chloride-hydrogen antiporters ClC-3 and ClC-5 drive osteoblast mineralization and regulate fine-structure bone patterning in vitro.The cast of clasts: catabolism and vascular invasion during bone growth, repair, and disease by osteoclasts, chondroclasts, and septoclasts.Osteoclasts-Key Players in Skeletal Health and Disease.Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.PLEKHM1/DEF8/RAB7 complex regulates lysosome positioning and bone homeostasis.Mechanisms of osteoclast-dependent bone formation.Effects of estrogen on bone mRNA levels of sclerostin and other genes relevant to bone metabolism in postmenopausal women.Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders.Hemin activation of innate cellular response blocks human immunodeficiency virus type-1-induced osteoclastogenesis.Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).Rab27A regulates transport of cell surface receptors modulating multinucleation and lysosome-related organelles in osteoclasts.Sclerosing bone dysplasias: leads toward novel osteoporosis treatments.Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.Genetic Approaches To Identifying Novel Osteoporosis Drug Targets.

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Osteopetrosis: genetics, treatment and new insights into osteoclast function.

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Osteopetrosis: genetics, treatment and new insights into osteoclast function.

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Osteopetrosis: genetics, treatment and new insights into osteoclast function.

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Osteopetrosis: genetics, treatment and new insights into osteoclast function.

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NRENDO.2013.137

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Nature Reviews Endocrinology

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Osteopetrosis: genetics, treatment and new insights into osteoclast function

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Ansgar Schulz

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Cristina Sobacchi

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Fraser P Coxon

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Miep H Helfrich

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P2860

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

V-ATPase interacts with ARNO and Arf6 in early endosomes and regulates the protein degradative pathway

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

Osteoprotegerin ligand is a cytokine that regulates osteoclast differentiation and activation

A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

A SNX10/V-ATPase pathway regulates ciliogenesis in vitro and in vivo

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

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nrendo.2013.137

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10.1038/NRENDO.2013.137

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