Osteogenesis imperfecta collagen mutation
All published accounts of variants resulting in osteogenesis imperfecta. Such variants occur in the COL1A1, COL1A2, CRTAP and LEPRE1 genes.
Description
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All published accounts of variants resulting in osteogenesis imperfecta. Such variants occur in the COL1A1, COL1A2, CRTAP and LEPRE1 genes.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:32:33.392175
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https://oi.gene.le.ac.ukWebpage
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Publications
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Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish
PMID: 22482805
metasource: bio.tools
version: extracted_at: 2022-11-04T11:32:33.392175
Publications
More detailed information about this field from each metasource.
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish
PMID: 22482805
metasource: bio.tools
version: extracted_at: 2022-11-04T11:32:33.392175
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Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish
PubMed citations: 86.
86 articles citing: Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish
BMP1 is not required for lung fibrosis in mice. PMID:35361882
Functional Validation of Osteoporosis Genetic Findings Using Small Fish Models. PMID:35205324
Computational anatomy and geometric shape analysis enables analysis of complex craniofacial phenotypes in zebrafish. PMID:35072203
Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques. PMID:34938269
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders. PMID:34539568
Zebrafish Models for Human Skeletal Disorders. PMID:34490030
High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1. PMID:34277895
Fish Models of Induced Osteoporosis. PMID:34179000
Localized chondro-ossification underlies joint dysfunction and motor deficits in the Fkbp10 mouse model of osteogenesis imperfecta. PMID:34161280
Suppression of pancreatic ductal adenocarcinoma growth and metastasis by fibrillar collagens produced selectively by tumor cells. PMID:33879793
Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfecta. PMID:33818922
Opportunities and Challenges in Functional Genomics Research in Osteoporosis: Report From a Workshop Held by the Causes Working Group of the Osteoporosis and Bone Research Academy of the Royal Osteoporosis Society on October 5th 2020. PMID:33658983
Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype. PMID:33624138
The enzymatic hydrolysates from deer sinew promote MC3T3-E1 cell proliferation and extracellular matrix synthesis by regulating multiple functional genes. PMID:33568122
Deciphering the Relevance of Bone ECM Signaling. PMID:33297501
Role of LncRNAs and CircRNAs in Bone Metabolism and Osteoporosis. PMID:33281877
A role for the MEGF6 gene in predisposition to osteoporosis. PMID:33026655
Zebrafish: A Resourceful Vertebrate Model to Investigate Skeletal Disorders. PMID:32849280
Zebrafish: A Suitable Tool for the Study of Cell Signaling in Bone. PMID:32824602
Proteolytic Restriction of Chordin Range Underlies BMP Gradient Formation. PMID:32814043
Maximal Segmental Score Method for Localizing Recessive Disease Variants Based on Sequence Data. PMID:32655614
Reproductive options for families at risk of Osteogenesis Imperfecta: a review. PMID:32460820
Phenomics-Based Quantification of CRISPR-Induced Mosaicism in Zebrafish. PMID:32191876
Overexpression of Bone Morphogenetic Protein-1 Promotes Osteogenesis of Bone Marrow Mesenchymal Stem Cells In Vitro. PMID:32084123
Maternal Larp6 controls oocyte development, chorion formation and elevation. PMID:32054660
Zebrafish: An Emerging Model for Orthopedic Research. PMID:31773769
Genome-wide comparative analysis ofbone morphogenetic proteins: genomic structure, phylogeny, and expression patterns in the golden pompano,Trachinotus ovatus(Linnaeus, 1758). PMID:31680186
ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects. PMID:31527654
Clinical pathologies of bone fracture modelled in zebrafish. PMID:31383797
Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen. PMID:31218159
Animal models of osteogenesis imperfecta: applications in clinical research. PMID:30774469
Using zebrafish to study skeletal genomics. PMID:30763636
Zebrafish as an Emerging Model for Osteoporosis: A Primary Testing Platform for Screening New Osteo-Active Compounds. PMID:30761080
Genetic approaches to metabolic bone diseases. PMID:30357886
Genome-Wide DNA Methylation Analysis during Osteogenic Differentiation of Human Bone Marrow Mesenchymal Stem Cells. PMID:30275838
Fishing forward and reverse: Advances in zebrafish phenomics. PMID:30130581
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies. PMID:30082390
Time series clustering of mRNA and lncRNA expression during osteogenic differentiation of periodontal ligament stem cells. PMID:30038865
Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype. PMID:29669177
The genetic implication of scoliosis in osteogenesis imperfecta: a review. PMID:29354746
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families. PMID:29150909
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. PMID:28916840
De novo metatranscriptome assembly and coral gene expression profile of Montipora capitata with growth anomaly. PMID:28893194
MicroCT-based phenomics in the zebrafish skeleton reveals virtues of deep phenotyping in a distributed organ system. PMID:28884682
Genetic Screen for Postembryonic Development in the Zebrafish (Danio rerio): Dominant Mutations Affecting Adult Form. PMID:28835471
Utility of quantitative micro-computed tomographic analysis in zebrafish to define gene function during skeletogenesis. PMID:28476577
TGF-β1 Signaling and Tissue Fibrosis. PMID:28432134
Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report. PMID:28257626
Genetic causes and mechanisms of Osteogenesis Imperfecta. PMID:28232077
BMP1 and TLL1 Are Required for Maintaining Periodontal Homeostasis. PMID:28068493
Featured Article: Transcriptional landscape analysis identifies differently expressed genes involved in follicle-stimulating hormone induced postmenopausal osteoporosis. PMID:27856519
Essential Roles of Bone Morphogenetic Protein-1 and Mammalian Tolloid-like 1 in Postnatal Root Dentin Formation. PMID:27847137
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome. PMID:27541483
Digits and fin rays share common developmental histories. PMID:27533041
Mammalian tolloid proteinases: role in growth factor signalling. PMID:27391803
BMP1-like proteinases are essential to the structure and wound healing of skin. PMID:27363389
Intrinsically disordered proteins and biomineralization. PMID:26807759
Osteogenesis imperfecta. PMID:26542481
Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease. PMID:26462740
Osteogenic programs during zebrafish fin regeneration. PMID:26421148
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. PMID:26365339
What does procollagen C-endopeptidase enhancer protein 2 have to do with HDL-cholesteryl ester uptake? Or how I learned to stop worrying and love reverse cholesterol transport? PMID:26218419
Myoepithelial and luminal breast cancer cells exhibit different responses to all-trans retinoic acid. PMID:26044847
Advances in Skeletal Dysplasia Genetics. PMID:25939055
BMP Signaling Regulates Bone Morphogenesis in Zebrafish through Promoting Osteoblast Function as Assessed by Their Nitric Oxide Production. PMID:25919279
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families. PMID:25565926
Bone Morphogenetic Protein (BMP) signaling in development and human diseases. PMID:25401122
Screening of SSR markers associated with scale cover pattern and mapped to a genetic linkage map of common carp (Cyprinus carpio L.). PMID:25339596
Proteolytic control of TGF-β co-receptor activity by BMP-1/tolloid-like proteases revealed by quantitative iTRAQ proteomics. PMID:25260970
A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation. PMID:25251575
Fish is Fish: the use of experimental model species to reveal causes of skeletal diversity in evolution and disease. PMID:25221374
A bone to pick with zebrafish. PMID:24422140
Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice. PMID:24419319
Basal keratinocytes contribute to all strata of the adult zebrafish epidermis. PMID:24400120
Extreme growth failure is a common presentation of ligase IV deficiency. PMID:24123394
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. PMID:24079343
Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V. PMID:23977282
Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery. PMID:23903953
New genes in bone development: what's new in osteogenesis imperfecta. PMID:23771926
An exclusively mesodermal origin of fin mesenchyme demonstrates that zebrafish trunk neural crest does not generate ectomesenchyme. PMID:23739134
Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta. PMID:23508630
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. PMID:23499310
Mutations in WNT1 cause different forms of bone fragility. PMID:23499309
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. PMID:23035047
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. PMID:22949511
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. PMID:22863195
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