Evidence map›Paper›PMID 36161343›Full record

ReviewJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2023

High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench.

Dylan J M Bergen, Antonio Maurizi, Melissa M Formosa, Georgina L K McDonald, Ahmed El-Gazzar, Neelam Hassan, Maria-Luisa Brandi, José A Riancho, Fernando Rivadeneira, Evangelia Ntzani and 10 more

Abstract readReview
In one paragraph

Review in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
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

8 citing papers in PubMed.

  1. Different Lrp5-HBM mutations induce magnitude- and surface-selective effects that are not explained by receptor trafficking.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026
    Article
  2. Article
  3. Barriers and solutions for global access to osteoporosis management: a Position Paper from the International Osteoporosis Foundation.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2025
    Review
  4. Modified criteria for identifying elevated bone mass.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2025
    Article
  5. Article
  6. Article
  7. Article
  8. Article
4 · The record

Corrections and comments

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

20 authors.

Dylan J M BergenSchool of Physiology, Pharmacology, and Neuroscience, Faculty of Life Sciences, University of Bristol, Bristol, UK.ORCID 0000-0001-7808-6121
Antonio MauriziDepartment of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.ORCID 0000-0002-7027-4694
Melissa M FormosaDepartment of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta.ORCID 0000-0002-7852-2701
Georgina L K McDonaldSchool of Physiology, Pharmacology, and Neuroscience, Faculty of Life Sciences, University of Bristol, Bristol, UK.ORCID 0000-0002-1068-0818
Ahmed El-GazzarDepartment of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.ORCID 0000-0002-2859-7246
Neelam HassanMusculoskeletal Research Unit, Translational Health Sciences, Bristol Medical School, Faculty of Health Sciences, University of Bristol, Bristol, UK.ORCID 0000-0001-7052-5708
Maria-Luisa BrandiItalian Bone Disease Research Foundation (FIRMO), Florence, Italy.ORCID 0000-0002-8741-0592
José A RianchoDepartment of Internal Medicine, Hospital U M Valdecilla, University of Cantabria, IDIVAL, Santander, Spain.ORCID 0000-0003-0691-8755
Fernando RivadeneiraDepartment of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0001-9435-9441
Evangelia NtzaniDepartment of Hygiene and Epidemiology, Medical School, University of Ioannina, Ioannina, Greece.ORCID 0000-0003-3712-4181
Emma L DuncanDepartment of Twin Research & Genetic Epidemiology, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK.ORCID 0000-0002-8143-4403
Celia L GregsonMusculoskeletal Research Unit, Translational Health Sciences, Bristol Medical School, Faculty of Health Sciences, University of Bristol, Bristol, UK.ORCID 0000-0001-6414-0529
Douglas P KielMarcus Institute for Aging Research, Hebrew SeniorLife and Department of Medicine Beth Israel Deaconess Medical Center and Harvard Medical School, Broad Institute of MIT & Harvard, Cambridge, MA, USA.ORCID 0000-0001-8474-0310
M Carola ZillikensDepartment of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands.ORCID 0000-0001-9186-3423
Luca SangiorgiDepartment of Rare Skeletal Diseases, IRCCS Rizzoli Orthopaedic Institute, Bologna, Italy.
Wolfgang HöglerDepartment of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.ORCID 0000-0003-4328-6304
Ivan DuranUniversity of Malaga, Malaga, Spain.ORCID 0000-0001-6097-0402
Outi MäkitieChildren's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.ORCID 0000-0002-4547-001X
Wim Van HulDepartment of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Gretl HendrickxDepartment of Human Genetics, KU Leuven, Leuven, Belgium.ORCID 0000-0001-6715-9241

Funding

Academy of FinlandEuropean Cooperation in Science and Technology GEMSTONE #CA18139Fondazione Telethon GGP20074H2020 European Research Council LEGENDARE ERC-ADG 2020 101021500Malta Council for Science and Technology GeOM REP-2020-011Malta Council for Science and Technology MetaBone REP-2021-012Medical Research Council MR/V00199X/1Methusalem-OEC GENOMED FFB190208Ministerio de Ciencia e Innovación PID2020-117255RB-100Novo Nordisk FondenSigrid Juséliuksen SäätiöVersus Arthritis 22044Wellcome TrustWellcome Trust 108907/Z/15/Z
6 · The paper itself

Abstract

Monogenic high bone mass (HBM) disorders are characterized by an increased amount of bone in general, or at specific sites in the skeleton. Here, we describe 59 HBM disorders with 50 known disease-causing genes from the literature, and we provide an overview of the signaling pathways and mechanisms involved in the pathogenesis of these disorders. Based on this, we classify the known HBM genes into HBM (sub)groups according to uniform Gene Ontology (GO) terminology. This classification system may aid in hypothesis generation, for both wet lab experimental design and clinical genetic screening strategies. We discuss how functional genomics can shape discovery of novel HBM genes and/or mechanisms in the future, through implementation of omics assessments in existing and future model systems. Finally, we address strategies to improve gene identification in unsolved HBM cases and highlight the importance for cross-laboratory collaborations encompassing multidisciplinary efforts to transfer knowledge generated at the bench to the clinic. © 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).

Indexed as

Bone and BonesBone DensityANABOLICSANIMAL MODELSCELL/TISSUE SIGNALINGDISEASES AND DISORDERS OF/RELATED TO BONEGENETIC ANIMAL MODELSGENETIC RESEARCHPARACRINE PATHWAYSTHERAPEUTICS

Identifiers

PMID36161343
PMCPMC10092806

What OpenQuestion holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

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.