Journal of Bone and Mineral Research

Cover image for Vol. 32 Issue 9

Edited By: Juliet E Compston

Impact Factor: 6.284

ISI Journal Citation Reports © Ranking: 2016: 14/138 (Endocrinology & Metabolism)

Online ISSN: 1523-4681

Associated Title(s): JBMR Plus

Featured

  • Vitamin D–Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

    Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

    Radiological features of rickets in VDDR1B patients with classical cupping and fraying of the metaphyseal region and bowing of the legs. Proband in family 1 (A–C) at 3.75 years. Proband in family 2 (D) and siblings (E, F) at the ages of 9.1, 6.4, and 4.1 years, respectively. Of note, patient F2-II-3 showed only very moderate metaphyseal dysplasia without bowing of the lower limbs.

  • Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation

    Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation

    Histological images of cortical bone from transiliac biopsy samples (A, B: control, C: OI type V). The sections were stained by Goldner trichrome and observed in polarized light. (A) Ordered lamellar collagen organization in a healthy control (2-year-old child), (B) periosteal primary bone apposition in the same child viewed as disorganized collagen fibrils pattern abutting to the secondary remodeled bone with lamellar pattern, (C) collagen organization in a 6.8-year-old child with OI type V suggesting short range and randomly organized fibril throughout the cortex similarly to the periosteal primary bone apposition observed in B.

  • A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations

    A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations

    Two siblings carrying a novel mutation in PGM3. (A) Pedigree of the French-Canadian family. (B) Sanger sequencing confirmed the presence of the c.1135T>C (p.F379L) mutation. (C) Reported mutations in PGM3. Zhang and colleagues reported p.E501Q, p.L452fs*10, and p.D297E. Sassi and colleagues reported p.E340del, p.L83S, and p.D502Y. Lundin and colleagues reported the p.I322T mutation. Stray-Pedersen and colleagues reported p.N246S, p.D239H, p.N246Lfs*7, p.Q451R, and a 1.2 Mb deletion of 6q14.1-14.2 involving PGM3 and 3 other genes. (D) X-ray showing Wormian bones and small sella turcica in patient 1. (E) Shortened long bones with large and irregular methaphyses were present in both children. (F) Platyspondyly and coronal clefting of the vertebrae were present in both patients. (G) Hand features included metacarpal hypoplasia of the second digits and squared-shaped phalanx. Patient 2 had two centers on the 2nd metacarpal overlapping with the base of 1st metacarpal. (H) Metatarsal hypoplasia and a square-shaped phalanx of the first toes were present. (I) A broad and small ischium and protuberant lesser trochanter were also observed. (J) Patient 2 presented 11 pairs of ribs, which were short and broad with flaring. (K) Autopsy on the second child showed absence of the well-defined cell columns of the proliferating and hypertrophic cartilage. The hypertrophic cell zone was reduced; the resorption zone was irregular. Primitive trabeculae were thick and misaligned. (L) In the thymus of the first child, cortical depopulation and reduction of the Hassall's corpuscles were noted.

  • mTORC1 Inhibits NF-κB/NFATc1 Signaling and Prevents Osteoclast Precursor Differentiation, In Vitro and In Mice

    mTORC1 Inhibits NF‐κB/NFATc1 Signaling and Prevents Osteoclast Precursor Differentiation, In Vitro and In Mice

    A schematic model with the potential mechanism of actions on osteoclast differentiation by mTORC1 regulation.

  • Rap1b Is an Effector of Axin2 Regulating Crosstalk of Signaling Pathways During Skeletal Development

    Rap1b Is an Effector of Axin2 Regulating Crosstalk of Signaling Pathways During Skeletal Development

    The disruption of Rap1b in mice causes craniosynostosis. (A) Dorsal view of 2-month-old control (+/+) and Rap1b mutant (–/–) mice shows that genetic inactivation of Rap1b causes shortening of the skull. (B, C) Gross examination reveals the length of AF and IN sutures affected by the Rap1b deletion at 2 months (mean, n = 2). (D–G) Hematoxylin and eosin staining of the control and mutant sections evaluates synostosis phenotypes in the AF and IN sutures. Images are representatives of two independent experiments. Scale bars = 200 μm (D–G). AF = anterior frontal; IN = inter-nasal.

  • Tendons and Ligaments: Connecting Developmental Biology to Musculoskeletal Disease Pathogenesis

    Tendons and Ligaments: Connecting Developmental Biology to Musculoskeletal Disease Pathogenesis

    Mkx is relevant for both the differentiation and the identity of tenocytes. Left: During embryonic development, mesenchymal progenitor cells acquire a tendon/ligament or chondrocyte cell fate, depending on lineage-specific transcription factors, such as Mkx or Sox9. In the adult tissue, the tendon/ligament cells continue to express Mkx, which is indispensable for the maintenance of their cellular identity, in part through the repression of Sox9 transcription. Right: When Mkx is genetically deleted or decreased by aging/OA, the SOX9 expression increases in tendon/ligament cells and these cells transform into chondrocyte-like cells.

  • Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
  • Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation
  • A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations
  • mTORC1 Inhibits NF‐κB/NFATc1 Signaling and Prevents Osteoclast Precursor Differentiation, In Vitro and In Mice
  • Rap1b Is an Effector of Axin2 Regulating Crosstalk of Signaling Pathways During Skeletal Development
  • Tendons and Ligaments: Connecting Developmental Biology to Musculoskeletal Disease Pathogenesis

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JBMR® Announces Workflow Changes and Author Guidelines Updates

In response to rising concerns over the reproducibility of biomedical research, the author guidelines and submission procedures for the Journal of Bone and Mineral Research’s (JBMR®) have recently been updated. These updates affect the submission workflow of author forms required for peer review and publication, as detailed below:


ARRIVE: Authors submitting research on animal studies are now required to complete an adapted ARRIVE (Animals in Research: Reporting In Vivo Experiments) checklist at submission.


CONSORT: Authors of manuscripts reporting results of clinical trials are now required to upload the CONSORT checklist at submission.


STROBE: Authors of manuscripts reporting results of human observational case-control, cohort, or cross-sectional studies are now required to upload the STROBE checklist at submission.


Author Agreement: The conflict of interest (COI) and copyright transfer (CTA) portions of the current Author Agreement can now be completed electronically as a web form, eliminating the need for authors to print, scan and upload a PDF form upon submission.


• COI information will be collected during submission via an online questionnaire on ScholarOne.


• The CTA will be completed at manuscript acceptance: If a manuscript is accepted for publication, the corresponding author will receive an e-mail prompt to log in to Author Services. Author Services is a Wiley web application that provides production tracking, as well as other resources for authors. From this site, corresponding authors can complete the CTA on behalf of all authors on the paper.

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