Article in JBMR plus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 60% of its field
1 · What the graph read from it
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registry
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
3 · Its place in the literature
Who cites it
1 citing paper in PubMed, 1 citations in OpenAlex.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
9 authors at 2 institutions in 1 country.
Núria Martínez-GilDepartment of Genetics, Microbiology and Statistics, Faculty of Biology Universitat de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), instituto de investigación biomédica básica de la Universidad de Barcelona (IBUB), Institut de Recerca Sant Joan de Déu (IRSJD) Barcelona Spain.ORCID https://orcid.org/0000-0002-9987-2858
Diana OvejeroMusculoskeletal Research Group IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), Instituto de Salud Carlos III (ISCIII) Barcelona Spain.ORCID https://orcid.org/0000-0003-1312-4750
Natalia Garcia-GiraltMusculoskeletal Research Group IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), Instituto de Salud Carlos III (ISCIII) Barcelona Spain.ORCID https://orcid.org/0000-0001-6507-0147
Carlos David BruqueUnidad de Conocimiento Traslacional Hospitalaria Patagónica Hospital de Alta Complejidad Servicio de Atención Médica Integral para la Comunidad (SAMIC) - El Calafate El Calafate Argentina.ORCID https://orcid.org/0000-0003-0726-5418
Leonardo MellibovskyMusculoskeletal Research Group IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), Instituto de Salud Carlos III (ISCIII) Barcelona Spain.
Xavier NoguésMusculoskeletal Research Group IMIM (Hospital del Mar Medical Research Institute), Centro de Investigación Biomédica en Red en Fragilidad y Envejecimiento Saludable (CIBERFES), Instituto de Salud Carlos III (ISCIII) Barcelona Spain.
Raquel RabionetDepartment of Genetics, Microbiology and Statistics, Faculty of Biology Universitat de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), instituto de investigación biomédica básica de la Universidad de Barcelona (IBUB), Institut de Recerca Sant Joan de Déu (IRSJD) Barcelona Spain.
Daniel GrinbergDepartment of Genetics, Microbiology and Statistics, Faculty of Biology Universitat de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), instituto de investigación biomédica básica de la Universidad de Barcelona (IBUB), Institut de Recerca Sant Joan de Déu (IRSJD) Barcelona Spain.ORCID https://orcid.org/0000-0001-9859-2590
Susanna BalcellsDepartment of Genetics, Microbiology and Statistics, Faculty of Biology Universitat de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), instituto de investigación biomédica básica de la Universidad de Barcelona (IBUB), Institut de Recerca Sant Joan de Déu (IRSJD) Barcelona Spain.ORCID https://orcid.org/0000-0003-1211-1907
Centre for Biomedical Network Research on Rare Diseases · ESInstituto de Salud Carlos III · ES
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
Osteoporosis is the most common bone disease, characterized by a low bone mineral density (BMD) and increased risk of fracture. At the other end of the BMD spectrum, some individuals present strong, fracture-resistant, bones. Both osteoporosis and high BMD are heritable and their genetic architecture encompasses polygenic inheritance of common variants and some cases of monogenic highly penetrant variants in causal genes. We have investigated the genetics of high BMD in a family segregating this trait in an apparently Mendelian dominant pattern. We searched for rare causal variants by whole-exome sequencing in three affected and three nonaffected family members. Using this approach, we have identified 38 rare coding variants present in the proband and absent in the three individuals with normal BMD. Although we have found four variants shared by the three affected members of the family, we have not been able to relate any of these to the high-BMD phenotype. In contrast, we have identified missense variants in two genes,
Indexed as
DISEASES AND DISORDERS OF/RELATED TO BONEGENETIC RESEARCHMOLECULAR PATHWAYS‐REMODELING
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.
Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci. · full record | OpenQuestion