Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant
Published 2022 View Full Article
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Title
Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant
Authors
Keywords
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Journal
BONE
Volume 160, Issue -, Pages 116400
Publisher
Elsevier BV
Online
2022-03-31
DOI
10.1016/j.bone.2022.116400
References
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Related references
Note: Only part of the references are listed.- A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder
- (2022) Julian C. Lui et al. Nature Communications
- Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history
- (2021) Jennifer Harrington et al. Archives of Osteoporosis
- Control of osteocyte dendrite formation by Sp7 and its target gene osteocrin
- (2021) Jialiang S. Wang et al. Nature Communications
- Biallelic variants in four genes underlying recessive osteogenesis imperfecta
- (2020) Amir Hayat et al. European Journal of Medical Genetics
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7)
- (2020) Michael P. Whyte et al. BONE
- Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment
- (2018) Melissa Fiscaletti et al. BONE
- Specificity Protein 7 Is Required for Proliferation and Differentiation of Ameloblasts and Odontoblasts
- (2018) Ji-Myung Bae et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Predicting the clinical impact of human mutation with deep neural networks
- (2018) Laksshman Sundaram et al. NATURE GENETICS
- Sp7/Osterix Is Restricted to Bone-Forming Vertebrates where It Acts as a Dlx Co-factor in Osteoblast Specification
- (2016) Hironori Hojo et al. DEVELOPMENTAL CELL
- Osteogenesis imperfecta
- (2016) Antonella Forlino et al. LANCET
- DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum
- (2016) G. Bardai et al. OSTEOPOROSIS INTERNATIONAL
- Osterix Regulates Tooth Root Formation in a Site-specific Manner
- (2015) T.H. Kim et al. JOURNAL OF DENTAL RESEARCH
- Sp1/Sp3 transcription factors regulate hallmarks of megakaryocyte maturation and platelet formation and function
- (2014) M. Meinders et al. BLOOD
- Targeted Sequencing of a Pediatric Metabolic Bone Gene Panel Using a Desktop Semiconductor Next-Generation Sequencer
- (2014) Frank Rauch et al. CALCIFIED TISSUE INTERNATIONAL
- Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2
- (2013) Pierre Moffatt et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Haploinsufficiency of osterix in chondrocytes impairs skeletal growth in mice
- (2013) Shaohong Cheng et al. PHYSIOLOGICAL GENOMICS
- Key role for the transcriptional factor, osterix, in spine development
- (2013) SiXu Chen et al. Spine Journal
- Chondrocyte-specific ablation of Osterix leads to impaired endochondral ossification
- (2012) Jung-Hoon Oh et al. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
- Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta
- (2010) Pablo Lapunzina et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Positive Regulation of Adult Bone Formation by Osteoblast-Specific Transcription Factor Osterix
- (2008) Wook-Young Baek et al. JOURNAL OF BONE AND MINERAL RESEARCH
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