Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease.

Genome research - 1 Jul 2005

Loots Gabriela G, Kneissel Michaela, Keller Hansjoerg, Baptist Myma, Chang Jessie, Collette Nicole M, Ovcharenko Dmitriy, Plajzer-Frick Ingrid, Rubin Edward M

Abstract excerpt

Mutations in distant regulatory elements can have a negative impact on human development and health, yet because of the difficulty of detecting these critical sequences, we predominantly focus on coding sequences for diagnostic purposes. We have undertaken a comparative sequence-based approach to characterize a large noncoding region deleted in patients affected by Van Buchem (VB) disease, a severe sclerosing...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing
Share to Bone Density

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bone Morphogenetic Proteins

Share to Enhancer Elements, Genetic

Share to Gene Deletion

Share to Gene Expression Regulation, Developmental

Share to Tumor Cells, Cultured

Share to Untranslated Regions

Source

Open in PubMed Open full text

Identifiers

PMID: 15965026
DOI: 10.1101/gr.3437105
PMCID: PMC1172036

Genes

SOST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease.PMID 15965026Read ↗

Targeted deletion of <i>Sost</i> distal enhancer increases bone formation and bone massSemantic proximity Read ↗

Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal modelsSemantic proximity Read ↗

Identification of conserved skeletal enhancers associated with craniosynostosis risk genes.Semantic proximity Read ↗

Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts.Semantic proximity Read ↗

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)Semantic proximity Read ↗

Control of the <i>SOST</i> Bone Enhancer by PTH Using MEF2 Transcription FactorsSemantic proximity Read ↗

Human-derived alleles in <i>SOST</i> and <i>RUNX2</i> 3′UTRs cause differential regulation in a bone cell-line modelSemantic proximity Read ↗

Identification of conserved skeletal enhancers associated with craniosynostosis risk genesSemantic proximity Read ↗

Sclerostin: Current Knowledge and Future PerspectivesSemantic proximity Read ↗

Osteocyte-Derived Sclerostin Inhibits Bone Formation: Its Role in Bone Morphogenetic Protein and Wnt SignalingSemantic proximity Read ↗

A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2.Semantic proximity Read ↗

A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.