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Osteogenesis imperfecta

The Lancet (British edition), 2016-04, Vol.387 (10028), p.1657-1671

2016

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Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types

Endocrine reviews, 2022-02, Vol.43 (1), p.61-90

2022

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New Genes in Bone Development: What's New in Osteogenesis Imperfecta

The journal of clinical endocrinology and metabolism, 2013-08, Vol.98 (8), p.3095-3103

2013

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Update on the Genetics of Osteogenesis Imperfecta

Calcified tissue international, 2024-08

2024

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New perspectives on osteogenesis imperfecta

Nature reviews. Endocrinology, 2011-09, Vol.7 (9), p.540

2011

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Cyclophilin B control of lysine post-translational modifications of skin type I collagen

PLoS genetics, 2019-06, Vol.15 (6), p.e1008196-e1008196

2019

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Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta

PLoS genetics, 2014-06, Vol.10 (6), p.e1004465-e1004465

2014

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Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation

Current opinion in pediatrics, 2014-08, Vol.26 (4), p.500-507

2014

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Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta

PLoS genetics, 2016-07, Vol.12 (7), p.e1006156-e1006156

2016

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4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion

Biochimica et biophysica acta. Molecular basis of disease, 2018-05, Vol.1864 (5), p.1642-1652

2018

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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Nature communications, 2016-07, Vol.7 (1), p.11920-11920, Article 11920

2016

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Osteogenesis imperfecta

Nature reviews. Disease primers, 2017-08, Vol.3 (1), p.17052-17052, Article 17052

2017

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

Journal of bone and mineral research, 2017-09, Vol.32 (9), p.1884-1892

2017

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Dissecting the phenotypic variability of osteogenesis imperfecta

Disease models & mechanisms, 2022-05, Vol.15 (5)

2022

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Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes

The FEBS journal, 2019-08, Vol.286 (15), p.3033-3056

2019

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Osteogenesis imperfecta: New genes reveal novel mechanisms in bone dysplasia

Translational research : the journal of laboratory and clinical medicine, 2017-03, Vol.181, p.27-48

2017

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Alterations of bone material properties in growing Ifitm5/BRIL p.S42 knock-in mice, a new model for atypical type VI osteogenesis imperfecta

Bone (New York, N.Y.), 2022-09, Vol.162, p.116451-116451, Article 116451

2022

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Sclerostin antibody improves skeletal parameters in a Brtl/+ mouse model of osteogenesis imperfecta

Journal of bone and mineral research, 2013-01, Vol.28 (1), p.73-80

2013

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Somatic activating mutations in MAP2K1 cause melorheostosis

Nature communications, 2018-04, Vol.9 (1), p.1390-12, Article 1390

2018

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Cyclophilin-B Modulates Collagen Cross-linking by Differentially Affecting Lysine Hydroxylation in the Helical and Telopeptidyl Domains of Tendon Type I Collagen

The Journal of biological chemistry, 2016-04, Vol.291 (18), p.9501-9512

2016

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Antagonism Between PEDF and TGF‐β Contributes to Type VI Osteogenesis Imperfecta Bone and Vascular Pathogenesis

Journal of bone and mineral research, 2022-05, Vol.37 (5), p.925-937

2022

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COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing

Biochimica et biophysica acta. Molecular basis of disease, 2019-09, Vol.1865 (9), p.2210-2223

2019

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Rapidly growing Brtl/+ mouse model of osteogenesis imperfecta improves bone mass and strength with sclerostin antibody treatment

Bone (New York, N.Y.), 2015-02, Vol.71, p.115-123

2015

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Targeting cellular stress in vitro improves osteoblast homeostasis, matrix collagen content and mineralization in two murine models of osteogenesis imperfecta

Matrix biology, 2021-04, Vol.98, p.1-20

2021

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Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function – A multi-omics study

Matrix biology, 2023-08, Vol.121, p.127-148

2023

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Osteogenesis imperfecta

Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types

New Genes in Bone Development: What's New in Osteogenesis Imperfecta

Update on the Genetics of Osteogenesis Imperfecta

New perspectives on osteogenesis imperfecta

Cyclophilin B control of lysine post-translational modifications of skin type I collagen

Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta

Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta

4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Osteogenesis imperfecta

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

Dissecting the phenotypic variability of osteogenesis imperfecta

Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes

Osteogenesis imperfecta: New genes reveal novel mechanisms in bone dysplasia

Alterations of bone material properties in growing Ifitm5/BRIL p.S42 knock-in mice, a new model for atypical type VI osteogenesis imperfecta

Sclerostin antibody improves skeletal parameters in a Brtl/+ mouse model of osteogenesis imperfecta

Somatic activating mutations in MAP2K1 cause melorheostosis

Cyclophilin-B Modulates Collagen Cross-linking by Differentially Affecting Lysine Hydroxylation in the Helical and Telopeptidyl Domains of Tendon Type I Collagen

Antagonism Between PEDF and TGF‐β Contributes to Type VI Osteogenesis Imperfecta Bone and Vascular Pathogenesis

COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing

Rapidly growing Brtl/+ mouse model of osteogenesis imperfecta improves bone mass and strength with sclerostin antibody treatment

Targeting cellular stress in vitro improves osteoblast homeostasis, matrix collagen content and mineralization in two murine models of osteogenesis imperfecta

Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function – A multi-omics study

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