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Osteogenesis Imperfecta Type V

Pathophysiology description

2026-02-04
Falcon MONDO:0012591 Model: Edison Scientific Literature 15 citations

Pathophysiology description Osteogenesis imperfecta type V is an autosomal dominant brittle bone disorder caused in nearly all cases by a recurrent IFITM5 5′-UTR variant (c.-14C>T) that creates an upstream start codon, appending five amino acids (MALEP) to the N-terminus of BRIL (MALEP‑BRIL), with evidence for a gain‑of‑function mechanism (URL: https://doi.org/10.1007/s00223-024-01266-5; Aug 2024) (jovanovic2024updateonthe pages 7-8). Authoritative review notes that elongated BRIL “does not display changes in topology, palmitoylation, or membrane localization,” supporting neomorphic activity rather than loss of function (URL: https://doi.org/10.1210/endrev/bnab017; May 2022) (jovanovic2022osteogenesisimperfectamechanisms pages 13-14). Clinically unique features include hyperplastic/hypertrophic callus, calcification of the interosseous membrane, and radial head dislocation; histology shows lamellar disorganization and paradoxical hypermineralization despite low trabecular bone mass (URL: https://doi.org/10.1210/endrev/bnab017; May 2022) (jovanovic2022osteogenesisimperfectamechanisms pages 13-14).

Recent mechanistic advances demonstrate that mutant IFITM5 perturbs early skeletal lineage decisions. A 2024 in vivo study using conditional Rosa26-knockin mice showed that expression of mutant Ifitm5 in osteo‑chondroprogenitors or chondrogenic cells, but not in mature osteoblasts, drives low bone mass, growth retardation, impaired endochondral ossification, and cartilage overgrowth with “activation of ERK signaling and downstream SOX9 protein,” and partial rescue upon ERK/SOX9 inhibition (URL: https://doi.org/10.1172/jci170369; Jun 2024) (marom2024theifitm5mutation pages 1-2). Together, these data support a model in which MALEP‑BRIL dysregulates ERK→SOX9 signaling in periosteal and growth plate progenitors, arresting osteogenic differentiation and contributing to OI‑V‑specific ossification phenotypes.

Core pathophysiology - Primary mechanisms: - Neomorphic, cell‑context–specific activity of MALEP‑BRIL alters early skeletal cell fate, impairing osteo‑chondroprogenitor progression toward osteoblasts and favoring chondrogenic states via ERK/SOX9 signaling; inhibition of ERK/SOX9 partially rescues skeletal defects in vivo (URL: https://doi.org/10.1172/jci170369; Jun 2024) (marom2024theifitm5mutation pages 1-2). - Osteoblast mineralization biology is altered: BRIL expression rises with osteoblast maturation/mineralization; OI‑V osteoblasts can show increased in vitro mineralization, and bone is highly mineralized by qBEI despite decreased bone volume and bone formation rate in biopsies (URL: https://doi.org/10.1007/s00223-024-01266-5; Aug 2024; URL: https://doi.org/10.1210/endrev/bnab017; May 2022) (jovanovic2024updateonthe pages 7-8, jovanovic2022osteogenesisimperfectamechanisms pages 13-14). - Periosteal progenitor pool expansion and dysregulated extraosseous ossification provide a cellular basis for hyperplastic callus and interosseous membrane calcification (URL: https://doi.org/10.1172/jci170369; Jun 2024; URL: https://doi.org/10.1210/endrev/bnab017; May 2022) (marom2024theifitm5mutation pages 1-2, jovanovic2022osteogenesisimperfectamechanisms pages 13-14). - Dysregulated pathways: - ERK/MAPK → SOX9 axis: mutant IFITM5 increases ERK activation and SOX9 abundance, shifting osteo‑chondroprogenitors toward chondrogenesis; pathway inhibition partially rescues phenotype (URL: https://doi.org/10.1172/jci170369; Jun 2024) (marom2024theifitm5mutation pages 1-2). - Osteoblast cytokine/PI3K–AKT/calcineurin–NFAT programs and inflammatory mediators (e.g., PTGS2/COX‑2, PGE2) are induced downstream of MALEP‑BRIL in vitro, with sensitivity to FK506/cyclosporins and PI3K inhibition (LY294002), suggesting BRIL‑dependent modulation of membrane‑proximal signaling (2024 research synthesis) (tiranardi2024investigationoftherapeutics pages 83-86, tiranardi2024investigationoftherapeutics pages 17-21). - Potential linkage to PEDF (SERPINF1) pathways in mineralization biology has been noted, suggesting convergence across OI types (URL: https://doi.org/10.1186/s40348-020-00101-9; Aug 2020; URL: https://doi.org/10.1007/s00223-024-01266-5; Aug 2024) (etich2020osteogenesisimperfecta—pathophysiologyand pages 7-8, jovanovic2024updateonthe pages 7-8). - Cellular processes affected: - Early lineage specification and endochondral ossification: impaired chondrocyte‑to‑osteoblast progression, abnormal growth plate architecture, ectopic chondrogenesis, and expansion of periosteal skeletal progenitors (URL: https://doi.org/10.1172/jci170369; Jun 2024) (marom2024theifitm5mutation pages 1-2). - Osteoblast differentiation/mineralization: cell‑autonomous arrest and hypomineralization in certain models; in humanized mouse contexts, context‑dependent increases in osteoblast markers (ALPL) highlight species and developmental timing effects (2023 model characterization) (robinson2023characterizationofhumanized pages 72-77). - Bone remodeling: decreased bone formation rate with increased osteocyte number/size and high tissue mineralization suggests impaired lamellar organization and remodeling dynamics (URL: https://doi.org/10.1210/endrev/bnab017; May 2022) (jovanovic2022osteogenesisimperfectamechanisms pages 13-14).

Key molecular players - Genes/Proteins (HGNC): - IFITM5 (HGNC:19110), encoding BRIL; pathogenic variant c.-14C>T (MALEP‑BRIL) is causal in OI‑V and shows gain‑of‑function properties (URL: https://doi.org/10.1007/s00223-024-01266-5; Aug 2024; URL: https://doi.org/10.1210/endrev/bnab017; May 2022) (jovanovic2024updateonthe pages 7-8, jovanovic2022osteogenesisimperfectamechanisms pages 13-14). - SOX9 (HGNC:11195) and ERK/MAPK components (e.g., MAPK1/MAPK3) are implicated as downstream effectors whose activation is sufficient to drive progenitor defects; inhibition partially rescues skeletal phenotypes (URL: https://doi.org/10.1172/jci170369; Jun 2024) (marom2024theifitm5mutation pages 1-2). - Potential interactors/modulators: FKBP11 and CAML; MEF2/NFATc transcriptional programs; COX‑2 (PTGS2) and PI3K–AKT signaling implicated from transcriptomic/perturbational data (2024 synthesis) (tiranardi2024investigationoftherapeutics pages 83-86, tiranardi2024investigationoftherapeutics pages 17-21). - Comparative pathways: PEDF (SERPINF1) discussed in relation to mineralization and osteoclast coupling (URL: https://doi.org/10.1186/s40348-020-00101-9; Aug 2020; URL: https://doi.org/10.1007/s00223-024-01266-5; Aug 2024) (etich2020osteogenesisimperfecta—pathophysiologyand pages 7-8, jovanovic2024updateonthe pages 7-8). - Chemical entities (CHEBI; where applicable): - Research probes: tacrolimus/FK506 (calcineurin inhibitor), cyclosporins, LY294002 (PI3K inhibitor), PGE2 (COX‑2 product); pathway modulation informs BRIL‑dependent signaling (2024 synthesis) (tiranardi2024investigationoftherapeutics pages 83-86, tiranardi2024investigationoftherapeutics pages 17-21). - Therapeutics used in OI care: bisphosphonates (anti‑resorptives); mechanism-based denosumab highlighted for SERPINF1‑related OI with implications for mineralization pathways (URL: https://doi.org/10.1186/s40348-020-00101-9; Aug 2020) (etich2020osteogenesisimperfecta—pathophysiologyand pages 7-8). - Cell types (CL): - Osteo‑chondroprogenitors (skeletal progenitors in periosteum/growth plate) show primary defects under mutant IFITM5 (URL: https://doi.org/10.1172/jci170369; Jun 2024) (marom2024theifitm5mutation pages 1-2). - Chondrocytes and osteoblasts, with reduced chondrocyte‑to‑osteoblast transition and context‑dependent osteoblast dysfunction (marom2024theifitm5mutation pages 1-2, robinson2023characterizationofhumanized pages 72-77). - Osteocytes increased in number and size in patient bone histology (jovanovic2022osteogenesisimperfectamechanisms pages 13-14). - Anatomical locations (UBERON): - Periosteum and diaphyseal cortical regions (progenitor niches affected); growth plate cartilage (endochondral ossification); interosseous membrane of forearm (pathologic calcification); sites of hyperplastic callus (marom2024theifitm5mutation pages 1-2, jovanovic2022osteogenesisimperfectamechanisms pages 13-14).

Biological processes for GO annotation (disrupted) - Osteoblast differentiation and mineralization; ossification and endochondral bone formation; regulation of ERK1/2 cascade; chondrocyte differentiation and cartilage development; extracellular matrix organization and mineralization; inflammatory response and cytokine‑mediated signaling (marom2024theifitm5mutation pages 1-2, jovanovic2024updateonthe pages 7-8, jovanovic2022osteogenesisimperfectamechanisms pages 13-14, tiranardi2024investigationoftherapeutics pages 83-86, tiranardi2024investigationoftherapeutics pages 17-21).

Cellular components - Plasma membrane microdomains where BRIL localizes and assembles cytokine/kinase signaling complexes; periosteal and growth plate microenvironments for progenitor activity; extracellular matrix and mineralization front; osteocyte lacuno‑canalicular network reflecting remodeling abnormalities (jovanovic2022osteogenesisimperfectamechanisms pages 13-14, tiranardi2024investigationoftherapeutics pages 83-86, marom2024theifitm5mutation pages 1-2).

Disease progression - Initial trigger: germline IFITM5 c.-14C>T yields MALEP‑BRIL expressed in bone‑restricted lineage cells (jovanovic2024updateonthe pages 7-8, jovanovic2022osteogenesisimperfectamechanisms pages 13-14). - Early developmental stage: ERK→SOX9 activation in osteo‑chondroprogenitors impairs endochondral ossification, expands periosteal progenitors, and reduces chondrocyte‑to‑osteoblast transition (marom2024theifitm5mutation pages 1-2). - Bone formation/remodeling: decreased bone formation rate with hypermineralized, lamellarly disorganized matrix and increased osteocyte density/size (jovanovic2022osteogenesisimperfectamechanisms pages 13-14). - Clinical manifestations: recurrent fractures with excessive callus response (hyperplastic callus) and progressive ossification of interosseous membrane; variable scoliosis and limb deformities (jovanovic2022osteogenesisimperfectamechanisms pages 13-14).

Phenotypic manifestations (HPO examples) - Abnormal bone mineral density and hypermineralized bone matrix; decreased trabecular bone volume; hyperplastic callus; calcification of interosseous membrane; radial head dislocation; scoliosis; impaired growth and bone deformities (jovanovic2022osteogenesisimperfectamechanisms pages 13-14, jovanovic2024updateonthe pages 7-8). - Quantitative examples: review notes decreased bone volume fraction with high mineralization and reduced bone formation rate in iliac crest biopsies; “about two‑thirds” of OI‑V show hyperplastic callus or scoliosis (URL: https://doi.org/10.1210/endrev/bnab017; May 2022) (jovanovic2022osteogenesisimperfectamechanisms pages 13-14). - Mouse–human links: mutant Ifitm5 expression in progenitors recapitulates impaired endochondral ossification and cartilage overgrowth; pathway rescue validates causality (URL: https://doi.org/10.1172/jci170369; Jun 2024) (marom2024theifitm5mutation pages 1-2).

Unique biology of hyperplastic callus and interosseous membrane calcification - Hyperplastic callus likely reflects dysregulated periosteal progenitor expansion and extraosseous ossification under aberrant ERK/SOX9 signaling, consistent with progenitor‑biased pathophysiology (marom2024theifitm5mutation pages 1-2, jovanovic2022osteogenesisimperfectamechanisms pages 13-14). Case literature emphasizes the sarcoma mimicry risk during massive callus formation and the value of genetic testing (URL: https://doi.org/10.3389/fendo.2021.622674; Apr 2021) (etich2020osteogenesisimperfecta—pathophysiologyand pages 7-8). - Interosseous membrane calcification aligns with OI‑V’s propensity for ectopic ossification in fibrous tissues adjacent to bone, consistent with altered osteo‑chondrogenic signaling (jovanovic2022osteogenesisimperfectamechanisms pages 13-14).

Recent developments and expert analyses (2023–2024 emphasis) - 2024 mechanistic advance: Identification of an “ERK/SOX9‑dependent osteoprogenitor differentiation defect” and partial rescue by pathway inhibition (direct quote: mutant IFITM5 disrupted skeletal homeostasis “in part by activating ERK signaling and downstream SOX9 protein, and inhibition of these pathways partially rescued the phenotype”) (URL: https://doi.org/10.1172/jci170369; Jun 2024) (marom2024theifitm5mutation pages 1-2). - 2024 genetics update: Consolidates IFITM5 c.-14C>T as the dominant OI‑V driver; emphasizes altered mineralization biology and links to other OI mechanisms (URL: https://doi.org/10.1007/s00223-024-01266-5; Aug 2024) (jovanovic2024updateonthe pages 7-8). - Context from humanized models (2023): demonstrates cell‑autonomous osteoblastogenesis arrest and timing/species‑dependent phenotypes, including increased serum ALPL with post‑natal human BRIL expression (modeling limitations acknowledged) (2023) (robinson2023characterizationofhumanized pages 72-77). - Consensus/expert review: OI‑V shows hyperplastic callus and interosseous ossification; bone histology with decreased BFR, high mineralization, and increased osteocytes supports a distinct pathophysiology relative to collagen‑defective OI (URL: https://doi.org/10.1210/endrev/bnab017; May 2022) (jovanovic2022osteogenesisimperfectamechanisms pages 13-14).

Current applications and real‑world implementations - Standard-of-care across OI includes bisphosphonates to decrease resorption and facilitate formation; mechanism‑based antiresorptives (e.g., denosumab) are used in specific genetic contexts (SERPINF1) and highlight mineralization/coupling pathways relevant to OI‑V biology (URL: https://doi.org/10.1186/s40348-020-00101-9; Aug 2020) (etich2020osteogenesisimperfecta—pathophysiologyand pages 7-8). - Diagnostic implications: Because hyperplastic callus can mimic osteosarcoma, longitudinal imaging and genetic testing for IFITM5 are critical for accurate diagnosis and limb‑sparing management (URL: https://doi.org/10.3389/fendo.2021.622674; Apr 2021) (etich2020osteogenesisimperfecta—pathophysiologyand pages 7-8). - Translational direction: The ERK/SOX9 pathway represents an actionable target; preclinical rescue with pathway inhibition supports exploration of targeted therapies for OI‑V (URL: https://doi.org/10.1172/jci170369; Jun 2024) (marom2024theifitm5mutation pages 1-2).

Gene/protein annotations with ontology terms (selected) - IFITM5 (HGNC:19110): bone‑restricted membrane protein BRIL; neomorphic MALEP‑BRIL causes OI‑V; processes: osteoblast differentiation, bone mineralization; components: plasma membrane; pathways: ERK/MAPK, PI3K–AKT, calcineurin–NFAT; evidence (jovanovic2024updateonthe pages 7-8, jovanovic2022osteogenesisimperfectamechanisms pages 13-14, marom2024theifitm5mutation pages 1-2, tiranardi2024investigationoftherapeutics pages 83-86, tiranardi2024investigationoftherapeutics pages 17-21). - SOX9 (HGNC:11195): chondrogenesis transcription factor; increased activity drives progenitor bias, rescue by pathway inhibition; processes: chondrocyte differentiation, endochondral ossification; evidence (marom2024theifitm5mutation pages 1-2). - MAPK/ERK (e.g., MAPK1/3): signaling cascade activated by mutant IFITM5 in progenitors; processes: ERK1/2 cascade, cell fate determination; evidence (marom2024theifitm5mutation pages 1-2). - PTGS2 (COX‑2): inflammatory mediator induced by MALEP‑BRIL in vitro; processes: prostaglandin biosynthesis, inflammatory response; evidence (tiranardi2024investigationoftherapeutics pages 83-86, tiranardi2024investigationoftherapeutics pages 17-21).

Phenotype associations (HPO; selected) - Hyperplastic callus (massive hypertrophic callus) (jovanovic2022osteogenesisimperfectamechanisms pages 13-14, etich2020osteogenesisimperfecta—pathophysiologyand pages 7-8) - Calcification/ossification of interosseous membrane (jovanovic2022osteogenesisimperfectamechanisms pages 13-14) - Radial head dislocation (jovanovic2022osteogenesisimperfectamechanisms pages 13-14) - Low bone mass with hypermineralized bone and decreased BFR; increased osteocyte number/size (jovanovic2022osteogenesisimperfectamechanisms pages 13-14) - Scoliosis (co‑occurring feature in a substantial subset) (jovanovic2022osteogenesisimperfectamechanisms pages 13-14)

Cell type involvement (CL; selected) - Osteo‑chondroprogenitor (skeletal progenitor) – primary defect locus (marom2024theifitm5mutation pages 1-2) - Chondrocyte – ectopic/expanded with impaired transition (marom2024theifitm5mutation pages 1-2) - Osteoblast – differentiation/mineralization altered; context‑dependent effects (robinson2023characterizationofhumanized pages 72-77, jovanovic2024updateonthe pages 7-8) - Osteocyte – increased number/size (jovanovic2022osteogenesisimperfectamechanisms pages 13-14)

Anatomical locations (UBERON; selected) - Periosteum and diaphyseal cortex (progenitor pool, extraosseous ossification) (marom2024theifitm5mutation pages 1-2) - Growth plate cartilage (endochondral ossification defect) (marom2024theifitm5mutation pages 1-2) - Interosseous membrane of forearm (ectopic calcification) (jovanovic2022osteogenesisimperfectamechanisms pages 13-14)

Chemical entities (CHEBI; selected research/therapeutic) - Bisphosphonates (antiresorptives) – clinical standard in OI (etich2020osteogenesisimperfecta—pathophysiologyand pages 7-8) - Denosumab – mechanism‑based therapy in SERPINF1‑related OI, mechanistic relevance to mineralization/coupling (etich2020osteogenesisimperfecta—pathophysiologyand pages 7-8) - LY294002 (PI3K inhibitor), tacrolimus/FK506, cyclosporins – in vitro probes modulating MALEP‑BRIL downstream programs (tiranardi2024investigationoftherapeutics pages 83-86, tiranardi2024investigationoftherapeutics pages 17-21)

Evidence items with PMIDs/links and publication dates - Marom et al., The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9‑dependent osteoprogenitor differentiation defect. Journal of Clinical Investigation. URL: https://doi.org/10.1172/jci170369; Publication: Jun 2024 (marom2024theifitm5mutation pages 1-2). - Jovanovic, Marini. Update on the Genetics of Osteogenesis Imperfecta. Calcified Tissue International. URL: https://doi.org/10.1007/s00223-024-01266-5; Publication: Aug 2024 (jovanovic2024updateonthe pages 7-8). - Jovanovic, Guterman‑Ram, Marini. Osteogenesis Imperfecta: Mechanisms and signaling pathways connecting classical and rare OI types. Endocrine Reviews. URL: https://doi.org/10.1210/endrev/bnab017; Publication: May 2022 (jovanovic2022osteogenesisimperfectamechanisms pages 13-14, jovanovic2022osteogenesisimperfectamechanisms pages 11-12). - Robinson S. Characterization of Humanized Mouse Models for Type V and Atypical Type VI Osteogenesis Imperfecta. 2023 (model report; URL not captured in this extract) (robinson2023characterizationofhumanized pages 72-77). - Etich et al. Osteogenesis imperfecta—pathophysiology and therapeutic options. Molecular and Cellular Pediatrics. URL: https://doi.org/10.1186/s40348-020-00101-9; Publication: Aug 2020 (etich2020osteogenesisimperfecta—pathophysiologyand pages 7-8). - Tiranardi M. Investigation of therapeutics for treating osteogenesis imperfecta type V. 2024 (preprint/unknown journal; mechanistic synthesis including PI3K/AKT, NFATc, PTGS2) (tiranardi2024investigationoftherapeutics pages 17-21, tiranardi2024investigationoftherapeutics pages 83-86). - Deng et al. Case Report: Hyperplastic Callus of the Femur Mimicking Osteosarcoma in OI‑V. Frontiers in Endocrinology. URL: https://doi.org/10.3389/fendo.2021.622674; Publication: Apr 2021 (etich2020osteogenesisimperfecta—pathophysiologyand pages 7-8).

Direct quotes (key statements) - “Mutant IFITM5 disrupted early skeletal homeostasis in part by activating ERK signaling and downstream SOX9 protein, and inhibition of these pathways partially rescued the phenotype in mutant animals.” (Marom et al., JCI 2024) (marom2024theifitm5mutation pages 1-2). - MALEP‑BRIL “does not display changes in topology, palmitoylation, or membrane localization,” consistent with a gain‑of‑function mechanism (Jovanovic et al., Endocrine Reviews 2022) (jovanovic2022osteogenesisimperfectamechanisms pages 13-14). - OI‑V hallmarks include “hyperplastic callus formation after fractures and excessive ossification of the membrana interossea” (Etich et al., 2020) (etich2020osteogenesisimperfecta—pathophysiologyand pages 7-8).

Expert opinions and analysis - Genetics/nosology: Contemporary nosology and genetics reviews consolidate IFITM5‑driven OI‑V as a distinct, non‑collagen OI with unique ossification biology and suggest mechanistic convergence among OI types via mineralization pathways (Jovanovic & Marini 2024; Jovanovic et al. 2022) (jovanovic2024updateonthe pages 7-8, jovanovic2022osteogenesisimperfectamechanisms pages 13-14). - Management implications: Anti‑resorptive therapy remains a mainstay across OI; mechanistic targeting of signaling (e.g., ERK/SOX9) is a leading translational avenue for OI‑V based on 2024 preclinical rescue (etich2020osteogenesisimperfecta—pathophysiologyand pages 7-8, marom2024theifitm5mutation pages 1-2).

Gaps and future directions - Precise BRIL interactome and ligand context at the osteoblast membrane remain incompletely resolved; transcriptomic data implicate PI3K–AKT and calcineurin–NFAT downstream of MALEP‑BRIL and suggest cytokine co‑receptor functions (2024 synthesis) (tiranardi2024investigationoftherapeutics pages 83-86, tiranardi2024investigationoftherapeutics pages 17-21). - Humanized mouse models underscore developmental timing and species sequence constraints; further models that recapitulate OI‑V post‑natal phenotypes are needed (robinson2023characterizationofhumanized pages 72-77).

Summary OI‑V is a BRIL‑driven, non‑collagen OI characterized by neomorphic signaling that redirects osteo‑chondroprogenitor fate through ERK/SOX9, yielding impaired endochondral ossification, periosteal progenitor expansion, and distinct ossification phenotypes including hyperplastic callus and interosseous membrane calcification. Bone shows decreased formation with paradoxically high mineralization and increased osteocyte density/size. Recent 2024 in vivo work provides causal and partially rescuable pathway evidence, laying the groundwork for targeted therapeutics alongside current anti‑resorptive management (marom2024theifitm5mutation pages 1-2, jovanovic2024updateonthe pages 7-8, jovanovic2022osteogenesisimperfectamechanisms pages 13-14, etich2020osteogenesisimperfecta—pathophysiologyand pages 7-8, tiranardi2024investigationoftherapeutics pages 83-86, tiranardi2024investigationoftherapeutics pages 17-21, robinson2023characterizationofhumanized pages 72-77).

References

  1. (jovanovic2024updateonthe pages 7-8): Milena Jovanovic and Joan C. Marini. Update on the genetics of osteogenesis imperfecta. Calcified Tissue International, 115:891-914, Aug 2024. URL: https://doi.org/10.1007/s00223-024-01266-5, doi:10.1007/s00223-024-01266-5. This article has 48 citations and is from a peer-reviewed journal.

  2. (jovanovic2022osteogenesisimperfectamechanisms pages 13-14): Milena Jovanovic, Gali Guterman-Ram, and Joan C Marini. Osteogenesis imperfecta: mechanisms and signaling pathways connecting classical and rare oi types. Endocrine reviews, 43:61-90, May 2022. URL: https://doi.org/10.1210/endrev/bnab017, doi:10.1210/endrev/bnab017. This article has 182 citations and is from a domain leading peer-reviewed journal.

  3. (marom2024theifitm5mutation pages 1-2): Ronit Marom, I-Wen Song, Emily C. Busse, Megan E. Washington, Ava S. Berrier, Vittoria C. Rossi, Laura Ortinau, Youngjae Jeong, Ming-Ming Jiang, Brian C. Dawson, Mary Adeyeye, Carolina Leynes, Caressa D. Lietman, Bridget M. Stroup, Dominyka Batkovskyte, Mahim Jain, Yuqing Chen, Racel Cela, Alexis Castellon, Alyssa A. Tran, Isabel Lorenzo, D. Nicole Meyers, Shixia Huang, Alicia Turner, Vinitha Shenava, Maegen Wallace, Eric Orwoll, Dongsu Park, Catherine G. Ambrose, Sandesh C.S. Nagamani, Jason D. Heaney, and Brendan H. Lee. The ifitm5 mutation in osteogenesis imperfecta type v is associated with an erk/sox9-dependent osteoprogenitor differentiation defect. Journal of Clinical Investigation, Jun 2024. URL: https://doi.org/10.1172/jci170369, doi:10.1172/jci170369. This article has 10 citations and is from a highest quality peer-reviewed journal.

  4. (tiranardi2024investigationoftherapeutics pages 83-86): M Tiranardi. Investigation of therapeutics for treating osteogenesis imperfecta type v. Unknown journal, 2024.

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  7. (robinson2023characterizationofhumanized pages 72-77): S Robinson. Characterization of humanized mouse models for type v and atypical type vi osteogenesis imperfecta. Unknown journal, 2023.

  8. (jovanovic2022osteogenesisimperfectamechanisms pages 11-12): Milena Jovanovic, Gali Guterman-Ram, and Joan C Marini. Osteogenesis imperfecta: mechanisms and signaling pathways connecting classical and rare oi types. Endocrine reviews, 43:61-90, May 2022. URL: https://doi.org/10.1210/endrev/bnab017, doi:10.1210/endrev/bnab017. This article has 182 citations and is from a domain leading peer-reviewed journal.