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Human Mutation, ISSN 1059-7794, 12/2019, Volume 40, Issue 12, pp. 2344 - 2352
Campomelic dysplasia (CD) is an autosomal dominant, perinatal lethal skeletal dysplasia characterized by a small chest and short long bones with bowing of the... 
campomelic dysplasia | bent bone dysplasia | SOX9 | dominant negative | Vertebrae | Dysplasia | Transcription | Sox9 protein | Chondrocytes | Bone dysplasia | Skeleton | Mutation | Chondrogenesis | Dimerization | Heterozygosity | Haploinsufficiency
Journal Article
Journal Article
Journal Article
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 01/2010, Volume 285, Issue 4, pp. 2580 - 2590
Collagen triple helices are stabilized by 4-hydroxyproline residues. No function is known for the much less common 3-hydroxyproline (3Hyp), although genetic... 
PROLYL 3-HYDROXYLATION | AMINO-ACID-SEQUENCE | ARTICULAR-CARTILAGE | BIOCHEMISTRY & MOLECULAR BIOLOGY | CYANOGEN-BROMIDE PEPTIDES | RECESSIVE OSTEOGENESIS IMPERFECTA | TRIPLE-HELIX | BASEMENT-MEMBRANE COLLAGEN | CARTILAGE COLLAGEN | HIGHER-ORDER STRUCTURES | COVALENT STRUCTURE | Collagen Type V - genetics | Humans | Collagen Type I - chemistry | Collagen Type III - metabolism | Molecular Sequence Data | Collagen - chemistry | Collagen Type XI - chemistry | Collagen Type XI - metabolism | Collagen Type II - metabolism | Young Adult | Tandem Mass Spectrometry | Collagen Type I - genetics | Collagen Type XI - genetics | Cattle | Bone and Bones - metabolism | Adult | Collagen - genetics | Collagen Type V - metabolism | Hydroxyproline - chemistry | Extracellular Matrix Proteins - metabolism | Amino Acid Sequence | Extracellular Matrix Proteins - chemistry | Collagen Type I - metabolism | Collagen Type V - chemistry | Bone and Bones - chemistry | Extracellular Matrix Proteins - genetics | Hydroxyproline - metabolism | Collagen Type III - chemistry | Collagen Type III - genetics | Cartilage - metabolism | Collagen Type II - genetics | Collagen - metabolism | Hydroxyproline - genetics | Animals | Chickens | Cartilage - chemistry | Collagen Type II - chemistry | Protein Processing, Post-Translational | Mammal | Protein Structure and Folding | Cartilage | Extracellular Matrix | Post-translational Modification | Collagen | Hydroxyproline | Organisms | 3-hydroxyproline | Bone | Protein
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2010, Volume 86, Issue 3, p. 389
Osteogenesis imperfecta (OI) is characterized by bone fragility and fractures that may be accompanied by bone deformity, dentinogenesis imperfecta, short... 
Proteins | Proteases | Genes | Genetics | Mutation
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 07/2015, Volume 290, Issue 29, pp. 17679 - 17689
Osteogenesis imperfecta (OI) is a heritable connective tissue disease characterized by bone fragility and increased risk of fractures. Up to now, mutations in... 
BONE-COLLAGEN | ALPHA-CHAINS | PROTEIN | HSP47 | BIOCHEMISTRY & MOLECULAR BIOLOGY | ENDOPLASMIC-RETICULUM | I COLLAGEN | CHAPERONE | CROSS-LINKS | PROCOLLAGEN | EHLERS-DANLOS-SYNDROME | Molecular Bases of Disease | heat shock protein 47 | connective tissue | collagen | SERPINH1 | endoplasmic reticulum stress (ER stress) | bone | osteogenesis | extracellular matrix | cross-links
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 11/2016, Volume 31, Issue 11, pp. 1930 - 1942
ABSTRACT Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the... 
OSTEOGENESIS IMPERFECTA | PLOD2 | COLLAGEN | LYSYL HYDROXYLASE 2 | BRUCK SYNDROME | TOMOGRAPHY | PROTEIN | CROSS-LINKING | PHENOTYPE | IDENTIFICATION | BONE-COLLAGEN | SYNDROME-OSTEOGENESIS IMPERFECTA | ENDOCRINOLOGY & METABOLISM | MUTATIONS | SKIN | Bone and Bones - pathology | Conserved Sequence - genetics | Osteogenesis Imperfecta - metabolism | Musculoskeletal Abnormalities - complications | Musculoskeletal Abnormalities - pathology | X-Ray Microtomography | Arthrogryposis - diagnostic imaging | Peptides - metabolism | Bone and Bones - diagnostic imaging | Mass Spectrometry | Lysine - metabolism | Arthrogryposis - pathology | Amino Acid Sequence | Catalytic Domain | Collagen Type I - metabolism | Hydroxylation | Larva - metabolism | Musculoskeletal Abnormalities - diagnostic imaging | Arthrogryposis - complications | Osteogenesis Imperfecta - complications | Osteogenesis Imperfecta - diagnostic imaging | Cross-Linking Reagents - metabolism | Phenotype | Animals | Musculoskeletal Abnormalities - metabolism | Calcification, Physiologic | Zebrafish - metabolism | Arthrogryposis - metabolism | Osteogenesis Imperfecta - pathology | Notochord - pathology | Zebrafish Proteins - genetics | Bone and Bones - abnormalities | Codon, Nonsense - genetics | Evolution, Molecular | Enzymes | Dysplasia | Crosslinked polymers | Lysine | Analysis | Collagen | Abnormalities | Bones
Journal Article