Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations
about
Nuclear receptors in bone physiology and diseasesStructure-based development of a receptor activator of nuclear factor- B ligand (RANKL) inhibitor peptide and molecular basis for osteopetrosisRapid phenotyping of knockout mice to identify genetic determinants of bone strengthRANKL/RANK-beyond bonesDissociation of bone resorption and bone formation in adult mice with a non-functional V-ATPase in osteoclasts leads to increased bone strengthDirected differentiation of hematopoietic precursors and functional osteoclasts from human ES and iPS cellsOsteopetrosis with micro-lacunar resorption because of defective integrin organizationRANK receptor oligomerisation in the regulation of NFκB signalling.Osteoclasts and odontoclasts: signaling pathways to development and disease.Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANKSNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.Receptor activator of NF-{kappa}B (RANK) cytoplasmic IVVY535-538 motif plays an essential role in tumor necrosis factor-{alpha} (TNF)-mediated osteoclastogenesis.Activation of EPAC1/2 is essential for osteoclast formation by modulating NFκB nuclear translocation and actin cytoskeleton rearrangementsHigh-dose diosgenin reduces bone loss in ovariectomized rats via attenuation of the RANKL/OPG ratio.A case of infantile osteopetrosis: The radioclinical features with literature updateAs little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.Biotechnological approach for systemic delivery of membrane Receptor Activator of NF-κB Ligand (RANKL) active domain into the circulation.Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.Rapid skeletal turnover in a radiographic mimic of osteopetrosis.Osteoclasts: New InsightsRANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutationsDenosumab in postmenopausal osteoporosis: what the clinician needs to know.The IVVY Motif and Tumor Necrosis Factor Receptor-associated Factor (TRAF) Sites in the Cytoplasmic Domain of the Receptor Activator of Nuclear Factor κB (RANK) Cooperate to Induce Osteoclastogenesis.New roles of osteoblasts involved in osteoclast differentiation.Genome-wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A, and Identification of ZBTB10 and Three Distinct HLA Associations.Osteoclast TGF-β Receptor Signaling Induces Wnt1 Secretion and Couples Bone Resorption to Bone Formation.Advances in osteoclast biology reveal potential new drug targets and new roles for osteoclastsA genome-wide association study of myasthenia gravisOsteoclasts and hematopoiesis.Refined genomic localization of the genetic lesion in the osteopetrosis (op) rat and exclusion of three positional and functional candidate genes, Clcn7, Atp6v0c, and Slc9a3r2.PLEKHM1/DEF8/RAB7 complex regulates lysosome positioning and bone homeostasis.Mechanisms of osteoclast-dependent bone formation.A DNA segment spanning the mouse Tnfsf11 transcription unit and its upstream regulatory domain rescues the pleiotropic biologic phenotype of the RANKL null mouse.Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).Do RANKL inhibitors (denosumab) affect inflammation and immunity?Physiology and pathophysiology of the RANKL/RANK system.Regulation of bone by the adaptive immune system in arthritis.Orthopaedic research in italy: state of the art.Skeletal and extraskeletal actions of denosumab.Molecular mechanisms of triggering, amplifying and targeting RANK signaling in osteoclasts.
P2860
Q26853017-9C478E12-24BF-429A-B66F-01A3A420CE16Q27665673-0E18F6F8-FB0F-4B0C-AADC-6E45177926B9Q28066355-9386541E-CAAB-486E-B7FC-1CD2E722E2E7Q28308042-4E369885-A634-4005-8D7A-21073D207FF2Q28743063-F4CEF3C4-38B9-401E-A7AB-9A0F3DD3099FQ33788654-44DA3DE4-99AB-4427-A010-3CDD8F5E7F1CQ33799330-5129B108-BF6E-4B34-9CF1-D58008AB156DQ33825207-63864AD3-ECF6-4DD7-8D6B-A541AC51F48DQ34127948-9E927E80-02C0-40C9-9CDD-FD68A36A25BFQ34307564-CF32742B-9238-4C3B-81A4-B1F02F824DE6Q34320437-23E1CAAB-7E3E-4420-9B5D-4D0F4D9D5561Q34333628-EF088DEA-FBDB-43E2-9B61-C5021DE12113Q34356123-8AF446BD-71DC-44BF-8FF1-83BFBA70E177Q34358535-D88D2B30-DD87-4630-8671-64CA4533E592Q34553824-DCD5DB7E-6DEC-4D83-B55D-5C32870D3EDDQ34643815-E5C7174F-BE6E-468E-BE85-B8048FF344DCQ35111940-CD890C23-95AA-4150-B848-6D2EC4D5A7CBQ35229848-A1122654-D683-426C-BB6E-E6120923C40AQ35343702-08B318AD-17A1-4DF6-A06F-72322344ADA6Q35755039-1196AD24-5D25-452A-9116-892F0C33F59EQ35837418-054FDA64-16C7-4638-8034-E60664BB4239Q36056922-E343AFBF-8C6E-48B4-A055-E303A2E637B3Q36093022-0C11A2F7-0812-44F5-B649-9E94F13A1B61Q36539657-B20B0A0E-E8F2-4212-AADE-A10E14A0FE25Q36568293-8816F68E-8931-46D8-BCE8-735048316BE3Q36593362-8606A501-7110-4C70-AA15-108C6D536390Q36733053-12A47198-FD34-466C-B74F-373101EE1B8FQ36869250-444761D0-6762-4089-BE32-4285FA31DD75Q37056351-5E83A4CF-CDE3-461A-9001-C33D7CFEB813Q37283089-86AB8803-42B7-4499-BFAB-118BD39618FAQ37351613-606AF8FB-F02B-4BA1-BD45-66E0B6E20383Q37414413-FCB8ED45-ED6E-49AA-948B-199D45B72AE2Q37589815-A3B34FE7-57C1-4562-A482-29EF3D329937Q37643579-956E12FB-AF63-46EA-9D05-BB4699B96A2DQ37767159-43C1847F-2510-4309-AA38-A0EC6E597938Q37810596-E236E102-D3D9-4CE0-8F54-3D347B992EB0Q37884121-F05F7640-4BB6-45F6-A315-13295D02F804Q37888852-D493667B-977F-4BEB-9496-0325422F6753Q38009712-BCF09BB1-DAFF-4065-A1A1-74B98FFEA2DBQ38074961-32FEA884-2194-4DF4-8357-F7D089D85E1A
P2860
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations
description
2008 nî lūn-bûn
@nan
2008 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Human osteoclast-poor osteopet ...... to TNFRSF11A (RANK) mutations
@ast
Human osteoclast-poor osteopet ...... to TNFRSF11A (RANK) mutations
@en
Human osteoclast-poor osteopet ...... to TNFRSF11A (RANK) mutations
@en-gb
Human osteoclast-poor osteopet ...... to TNFRSF11A (RANK) mutations
@nl
type
label
Human osteoclast-poor osteopet ...... to TNFRSF11A (RANK) mutations
@ast
Human osteoclast-poor osteopet ...... to TNFRSF11A (RANK) mutations
@en
Human osteoclast-poor osteopet ...... to TNFRSF11A (RANK) mutations
@en-gb
Human osteoclast-poor osteopet ...... to TNFRSF11A (RANK) mutations
@nl
prefLabel
Human osteoclast-poor osteopet ...... to TNFRSF11A (RANK) mutations
@ast
Human osteoclast-poor osteopet ...... to TNFRSF11A (RANK) mutations
@en
Human osteoclast-poor osteopet ...... to TNFRSF11A (RANK) mutations
@en-gb
Human osteoclast-poor osteopet ...... to TNFRSF11A (RANK) mutations
@nl
P2093
P2860
P50
P921
P3181
P1476
Human osteoclast-poor osteopet ...... to TNFRSF11A (RANK) mutations
@en
P2093
Alessandra Pangrazio
Annalisa Frattini
Ashok Vellodi
Cristina Sobacchi
Daniele Moratto
David Mellis
Evelina Mazzolari
Fraser P Coxon
Ilhan Tezcan
Jill Clayton-Smith
P2860
P3181
P356
10.1016/J.AJHG.2008.06.015
P407
P577
2008-07-01T00:00:00Z