Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
about
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing proteinIdentification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem diseaseSclerostin Inhibition in the Management of OsteoporosisFriend or foe: high bone mineral density on routine bone density scanning, a review of causes and managementA 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch populationIdentical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangismSingle-dose, placebo-controlled, randomized study of AMG 785, a sclerostin monoclonal antibodySystematic genome-wide approach to positional candidate cloning for identification of novel human disease genes.Developments in sclerostin biology: regulation of gene expression, mechanisms of action, and physiological functions.Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease.The revolution in human monogenic disease mapping.Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13.A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone massSclerostin inhibition: a novel therapeutic approach in the treatment of osteoporosis.A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.Role of fibroblast growth factor 2 and Wnt signaling in anabolic effects of parathyroid hormone on bone formation.Sclerostin Deficiency Promotes Reparative Dentinogenesis.Inhibition of GSK3β Stimulates BMP Signaling and Decreases SOST Expression Which Results in Enhanced Osteoblast Differentiation.A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.TGF-β Family Signaling in Connective Tissue and Skeletal Diseases.N-cadherin restrains PTH repressive effects on sclerostin/SOST by regulating LRP6-PTH1R interaction.Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family.Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies.Biosynthesis of heparan sulfate in EXT1-deficient cells.Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers.Dental and oral manifestations of sclerosteosis.MANAGEMENT OF ENDOCRINE DISEASE: Novel anabolic treatments for osteoporosis.Van Buchem disease: First case report in Taiwan.Greater palatine foramen--key to successful hemimaxillary anaesthesia: a morphometric study and report of a rare aberration.International nosology and classification of constitutional disorders of bone (2001).High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development.
P2860
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P2860
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
description
1998 nî lūn-bûn
@nan
1998 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
@ast
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
@en
Van Buchem disease
@nl
type
label
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
@ast
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
@en
Van Buchem disease
@nl
prefLabel
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
@ast
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
@en
Van Buchem disease
@nl
P2093
P2860
P356
P1476
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21
@en
P2093
Balemans W
Dikkers FG
Hildering P
Stokroos RJ
Vanhoenacker F
Willems PJ
P2860
P304
P356
10.1086/301721
P407
P50
P577
1998-02-01T00:00:00Z