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

Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.

Human genomics - 15 Aug 2024

Garcia-Giralt Natalia, Ovejero Diana, Grinberg Daniel, Nogues Xavier, Castañeda Santos, Balcells Susanna, Rabionet Raquel

Abstract excerpt

BACKGROUND: Recent studies suggested that genetic variants associated with monogenic bone disorders were involved in the pathogenesis of atypical femoral fractures (AFF). Here, we aim to identify rare genetic variants by whole exome sequencing in genes involved in monogenic rare skeletal diseases in 12 women with AFF and 4 controls without any fracture. RESULTS: Out of 33 genetic variants identified in women with...

Topics

Join the communities discussing this publication.

Bone Diseases
Exome Sequencing
Low Density Lipoprotein Receptor-Related Protein-5
Low Density Lipoprotein Receptor-Related Protein-6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Wnt Signaling Pathway

Source

Open in PubMed Open full text

Identifiers

PMID: 39148098
DOI: 10.1186/s40246-024-00652-2
PMCID: PMC11328373

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.PMID 39148098Read ↗

Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fracturesSemantic proximity Read ↗

Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture PatientsSemantic proximity Read ↗

Identification of rare genetic variants in familial forms and unrelated cases of bisphosphonates-associated atypical femur fracture.Semantic proximity Read ↗

The Genetics of Atypical Femur Fractures-a Systematic Review.Semantic proximity Read ↗

The Contribution of Deleterious Rare Alleles in ENPP1 and Osteomalacia Causative Genes to Atypical Femoral Fracture.Semantic proximity Read ↗

A Genome-Wide Association Study of Bisphosphonate-Associated Atypical Femoral FractureSemantic proximity Read ↗

Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures.Semantic proximity Read ↗

Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.Semantic proximity Read ↗

Identification of a p.Arg708Gln variant in COL1A2 in atypical femoral fractures.Semantic proximity Read ↗

Exon array analysis reveals genetic heterogeneity in atypical femoral fractures. A pilot study.Semantic proximity Read ↗

Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal GenesSemantic proximity Read ↗

Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.Semantic proximity Read ↗

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