Published in J Biol Chem on December 25, 1983
Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta. Proc Natl Acad Sci U S A (1993) 2.07
Molecular cloning and carboxyl-propeptide analysis of human type III procollagen. Nucleic Acids Res (1984) 2.01
Increases in type III collagen gene expression and protein synthesis in patients with inguinal hernias. Ann Surg (1993) 1.73
Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. J Clin Invest (1990) 1.61
c-Jun-dependent inhibition of cutaneous procollagen transcription following ultraviolet irradiation is reversed by all-trans retinoic acid. J Clin Invest (2000) 1.50
Collagen genes and inherited connective tissue disease. Biochem J (1985) 1.45
Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta. Proc Natl Acad Sci U S A (1984) 1.29
Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta. J Clin Invest (1985) 1.24
Exon/intron organization of the chicken type II procollagen gene: intron size distribution suggests a minimal intron size. Proc Natl Acad Sci U S A (1986) 1.17
Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I. J Med Genet (1986) 1.14
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. J Med Genet (2006) 1.12
Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen. J Clin Invest (1986) 0.99
Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies. J Med Genet (1988) 0.98
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. J Med Genet (1993) 0.97
Mutations in collagen genes. Consequences for rare and common diseases. J Clin Invest (1985) 0.97
Collagen genes and proteins in osteogenesis imperfecta. J Med Genet (1985) 0.91
Genetic disorders of collagen. J Med Genet (1987) 0.86
Deficient degradation of homotrimeric type I collagen, α1(I)3 glomerulopathy in oim mice. Mol Genet Metab (2011) 0.85
Molecular abnormalities of collagen in human disease. Arch Dis Child (1987) 0.80
Extracellular-matrix synthesis by skeletal muscle in culture. Major secreted collagenous proteins of clonal myoblasts. Biochem J (1985) 0.80
Prenatal diagnosis and prevention of inherited abnormalities of collagen. J Inherit Metab Dis (1989) 0.79
Increased expression of the gene for the pro alpha 1(IV) chain of basement-membrane procollagen in cultured skin fibroblasts from two variants of osteogenesis imperfecta. Biochem J (1989) 0.78
Collagen I and the fibroblast: high protein expression requires a new paradigm of post-transcriptional, feedback regulation. Biochem Biophys Rep (2015) 0.75
Classical electrostatics in biology and chemistry. Science (1995) 17.26
Ankylosing spondylitis and HL-A 27. Lancet (1973) 11.99
Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta. Nat Med (1999) 9.73
Adult rat and human bone marrow stromal cells differentiate into neurons. J Neurosci Res (2000) 7.87
Elective ventilation of potential organ donors. BMJ (1995) 5.50
Modifications of a specific assay for hydroxyproline in urine. Anal Biochem (1967) 5.48
Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci U S A (1993) 5.47
Marrow stromal cells migrate throughout forebrain and cerebellum, and they differentiate into astrocytes after injection into neonatal mouse brains. Proc Natl Acad Sci U S A (1999) 5.20
Modified procedure for the assay of H-3-or C-14-labeled hydroxyproline. Anal Biochem (1966) 5.08
Rapid expansion of recycling stem cells in cultures of plastic-adherent cells from human bone marrow. Proc Natl Acad Sci U S A (2000) 4.72
Cultured adherent cells from marrow can serve as long-lasting precursor cells for bone, cartilage, and lung in irradiated mice. Proc Natl Acad Sci U S A (1995) 4.47
Heritable diseases of collagen. N Engl J Med (1984) 4.39
Engraftment and migration of human bone marrow stromal cells implanted in the brains of albino rats--similarities to astrocyte grafts. Proc Natl Acad Sci U S A (1998) 4.13
Reiter's disease and HL-A 27. Lancet (1973) 4.10
Propagation and senescence of human marrow stromal cells in culture: a simple colony-forming assay identifies samples with the greatest potential to propagate and differentiate. Br J Haematol (1999) 4.08
Identification of a subpopulation of rapidly self-renewing and multipotential adult stem cells in colonies of human marrow stromal cells. Proc Natl Acad Sci U S A (2001) 4.07
Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney Int (1998) 4.03
The biosynthesis of collagen and its disorders (first of two parts). N Engl J Med (1979) 3.87
Two improved methods for preparing ferritin-protein conjugates for electron microscopy. J Cell Biol (1975) 3.81
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV. J Med Genet (1992) 3.80
Reconciling the magnitude of the microscopic and macroscopic hydrophobic effects. Science (1991) 3.79
Plastic adherent stromal cells from the bone marrow of commonly used strains of inbred mice: variations in yield, growth, and differentiation. J Cell Biochem (1999) 3.75
Marrow stromal cells as a source of progenitor cells for nonhematopoietic tissues in transgenic mice with a phenotype of osteogenesis imperfecta. Proc Natl Acad Sci U S A (1998) 3.17
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet (2000) 3.07
Cloning a cDNA for the pro-alpha 2 chain of human type I collagen. Proc Natl Acad Sci U S A (1981) 2.97
Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc Natl Acad Sci U S A (1975) 2.88
Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J (1991) 2.86
Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proc Natl Acad Sci U S A (1990) 2.79
The biosynthesis of collagen and its disorders (second of two parts). N Engl J Med (1979) 2.76
Acute anterior uveitis and HL-A 27. Lancet (1973) 2.74
Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature (1983) 2.73
The thermal transition of a non-hydroxylated form of collagen. Evidence for a role for hydroxyproline in stabilizing the triple-helix of collagen. Biochem Biophys Res Commun (1973) 2.66
Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood (2001) 2.65
Radial packing, order, and disorder in collagen fibrils. Biophys J (1995) 2.60
Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta. J Clin Invest (1983) 2.50
Extracting hydrophobic free energies from experimental data: relationship to protein folding and theoretical models. Biochemistry (1991) 2.46
Nucleotide sequences of complementary deoxyribonucleic acids for the pro alpha 1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution. Biochemistry (1983) 2.42
Structure of a cDNA for the pro alpha 2 chain of human type I procollagen. Comparison with chick cDNA for pro alpha 2(I) identifies structurally conserved features of the protein and the gene. Biochemistry (1983) 2.41
A highly polymorphic region 3' to the human type II collagen gene. Nucleic Acids Res (1985) 2.37
The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper. Annu Rev Biophys Biophys Chem (1991) 2.33
Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation. Biochem J (1988) 2.30
cDNA clones coding for the pro-alpha1(IV) chain of human type IV procollagen reveal an unusual homology of amino acid sequences in two halves of the carboxyl-terminal domain. J Biol Chem (1985) 2.30
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. J Biol Chem (1984) 2.25
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci U S A (1991) 2.24
Proteolytic enzymes as probes for the triple-helical conformation of procollagen. Anal Biochem (1981) 2.19
In vitro differentiation of human marrow stromal cells into early progenitors of neural cells by conditions that increase intracellular cyclic AMP. Biochem Biophys Res Commun (2001) 2.17
Donor variation in the growth properties and osteogenic potential of human marrow stromal cells. J Cell Biochem (1999) 2.17
Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc Natl Acad Sci U S A (1998) 2.14
Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. Am J Hum Genet (1990) 2.11
Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta. J Biol Chem (1983) 2.03
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet (1999) 1.98
Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization. Am J Hum Genet (1982) 1.98
Folding mechanism of the triple helix in type-III collagen and type-III pN-collagen. Role of disulfide bridges and peptide bond isomerization. Eur J Biochem (1980) 1.96
Intra-articular injection of human mesenchymal stem cells (MSCs) promote rat meniscal regeneration by being activated to express Indian hedgehog that enhances expression of type II collagen. Osteoarthritis Cartilage (2012) 1.96
Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia. N Engl J Med (1990) 1.93
Free-energy determinants of alpha-helix insertion into lipid bilayers. Biophys J (1996) 1.89
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet (1999) 1.88
Effect of oestrogen therapy on plasma and urinary levels of uric acid. Br Med J (1973) 1.88
Transgenic mice with targeted inactivation of the Col2 alpha 1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone. Genes Dev (1995) 1.86
An allele of COL9A2 associated with intervertebral disc disease. Science (1999) 1.85
Rat marrow stromal cells are more sensitive to plating density and expand more rapidly from single-cell-derived colonies than human marrow stromal cells. Stem Cells (2001) 1.84
Automated ligand placement and refinement with a combined force field and shape potential. Acta Crystallogr D Biol Crystallogr (2006) 1.84
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet (1999) 1.82
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Hum Mol Genet (1996) 1.81
BMP-6 enhances chondrogenesis in a subpopulation of human marrow stromal cells. Biochem Biophys Res Commun (2001) 1.80
A transport form of collagen from embryonic tendon: electron microscopic demonstration of an NH 2 -terminal extension and evidence suggesting the presence of cystine in the molecule (chick embryo-tropocollagen-gel filtration). Proc Natl Acad Sci U S A (1972) 1.79
Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci U S A (1982) 1.78
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet (2001) 1.73
Increases in type III collagen gene expression and protein synthesis in patients with inguinal hernias. Ann Surg (1993) 1.73
Type I procollagen carboxyl-terminal proteinase from chick embryo tendons. Purification and characterization. J Biol Chem (1985) 1.71
Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta. J Biol Chem (1983) 1.71
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem (1980) 1.69
Basophils in allergen-induced patch test sites in atopic dermatitis. Lancet (1982) 1.69
HL-A 27 and arthropathies associated with ulcerative colitis and psoriasis. Lancet (1974) 1.68
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. Am J Hum Genet (1999) 1.68
Collagen fibrils in vitro grow from pointed tips in the C- to N-terminal direction. Biochem J (1990) 1.66
Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta. Clin Genet (1989) 1.65
Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta. Am J Hum Genet (1984) 1.62
Enzymatic hydroxylation of proline and lysine in protocollagen. Proc Natl Acad Sci U S A (1967) 1.61
The biosynthesis of collagen. 1. N Engl J Med (1972) 1.61
Time lag in the secretion of collagen by matrix-free tendon cells and inhibition of the secretory process by colchicine and vinblastine. Biochim Biophys Acta (1972) 1.60
Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. Br J Dermatol (1975) 1.59
Affinity column purification of protocollagen proline hydroxylase from chick embryos and further characterization of the enzyme. J Biol Chem (1973) 1.58
Cerebrovascular disease in Ehlers-Danlos syndrome type IV. Stroke (1990) 1.58
A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. J Clin Invest (1990) 1.57
The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta. J Med Genet (1984) 1.56
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc Natl Acad Sci U S A (1992) 1.54
Hydroxylation of proline and the intracellular accumulation of a polypeptide precursor of collagen. Science (1966) 1.54
Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV. J Biol Chem (1989) 1.53
The biosynthesis of collagen. 3. N Engl J Med (1972) 1.52