type I collagen

Summary

Gene Symbol: type I collagen
Description: collagen type I alpha 1 chain
Alias: EDSC, OI1, OI2, OI3, OI4, collagen alpha-1(I) chain, alpha-1 type I collagen, alpha1(I) procollagen, collagen alpha 1 chain type I, collagen alpha-1(I) chain preproprotein, collagen of skin, tendon and bone, alpha-1 chain, collagen, type I, alpha 1, pro-alpha-1 collagen type 1, type I proalpha 1, type I procollagen alpha 1 chain
Species: human

Top Publications

  1. ncbi Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta
    R J Wenstrup
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710
    Am J Med Genet 45:228-32. 1993
  2. pmc Collagen type I alpha1 Sp1 polymorphism, osteoporosis, and intervertebral disc degeneration in older men and women
    S M F Pluijm
    Institute for Research in Extramural Medicine EMGO Institute, VU University Medical Centre, Amsterdam, The Netherlands
    Ann Rheum Dis 63:71-7. 2004
  3. ncbi [Osteogenesis imperfecta Type 1: a case presentation with a new mutation in gene COL1A1]
    T Siegert
    Dr von Haunersches Kinderspital der LMU München
    Klin Padiatr 216:91-3. 2004
  4. ncbi p38 MAPK mediates the expression of type I collagen induced by TGF-beta 2 in human retinal pigment epithelial cells ARPE-19
    Kenichi Kimoto
    Department of Ophthalmology, Faculty of Medicine, Oita University, Hasama machi, Japan
    Invest Ophthalmol Vis Sci 45:2431-7. 2004
  5. ncbi Inhibition of RhoA/Rho-kinase pathway suppresses the expression of type I collagen induced by TGF-beta2 in human retinal pigment epithelial cells
    Yuji Itoh
    Department of Ophthalmology, Oita University, Hasama machi, Yufu shi Oita 879 5593, Japan
    Exp Eye Res 84:464-72. 2007
  6. ncbi Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperative blo
    A Westerhausen
    Department of Biochemistry and Molecular Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107
    J Biol Chem 265:13995-4000. 1990
  7. ncbi The alpha 2 beta 1 integrin cell surface collagen receptor binds to the alpha 1 (I)-CB3 peptide of collagen
    W D Staatz
    Department of Pathology, Washington University School of Medicine, St Louis, Missouri 63110
    J Biol Chem 265:4778-81. 1990
  8. ncbi Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA
    J F Bateman
    Department of Pediatrics, University of Melbourne, Royal Children s Hospital, Australia
    J Biol Chem 263:11627-30. 1988
  9. ncbi Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1)
    E Retief
    Hum Genet 69:304-8. 1985
  10. ncbi An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta
    K MacKay
    Department of Genetics, University of Leicester, UK
    Hum Mol Genet 2:1155-60. 1993

Research Grants

Detail Information

Publications194 found, 100 shown here

  1. ncbi Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta
    R J Wenstrup
    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710
    Am J Med Genet 45:228-32. 1993
    ..To determine how COL1A2 mutations produce OI phenotypes, we have produced a full-length mouse cDNA into which we plan to place mutations and examine their effects in stably transfected osteogenic cells and in transgenic animals...
  2. pmc Collagen type I alpha1 Sp1 polymorphism, osteoporosis, and intervertebral disc degeneration in older men and women
    S M F Pluijm
    Institute for Research in Extramural Medicine EMGO Institute, VU University Medical Centre, Amsterdam, The Netherlands
    Ann Rheum Dis 63:71-7. 2004
    ..To examine whether collagen type I alpha1 (COLIA1) Sp1 polymorphism is associated with osteoporosis and/or intervertebral disc degeneration in older people...
  3. ncbi [Osteogenesis imperfecta Type 1: a case presentation with a new mutation in gene COL1A1]
    T Siegert
    Dr von Haunersches Kinderspital der LMU München
    Klin Padiatr 216:91-3. 2004
    ..Clinical diagnosis could be verified by moleculargenetic analysis, a newly recognized heterozygous point mutation (Arg420Stop) in the COL1A1-gene was found...
  4. ncbi p38 MAPK mediates the expression of type I collagen induced by TGF-beta 2 in human retinal pigment epithelial cells ARPE-19
    Kenichi Kimoto
    Department of Ophthalmology, Faculty of Medicine, Oita University, Hasama machi, Japan
    Invest Ophthalmol Vis Sci 45:2431-7. 2004
    ..The current study was conducted to examine whether the mitogen-activated protein kinase (MAPK) pathway is involved in TGF-beta 2-induced collagen expression in retinal pigment epithelial cells...
  5. ncbi Inhibition of RhoA/Rho-kinase pathway suppresses the expression of type I collagen induced by TGF-beta2 in human retinal pigment epithelial cells
    Yuji Itoh
    Department of Ophthalmology, Oita University, Hasama machi, Yufu shi Oita 879 5593, Japan
    Exp Eye Res 84:464-72. 2007
    ..The effects of simvastatin or Y27632 on the type I collagen mRNA (COL1A1 and COL1A2) expression induced by TGF-beta2 were evaluated by real-time RT-PCR...
  6. ncbi Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperative blo
    A Westerhausen
    Department of Biochemistry and Molecular Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107
    J Biol Chem 265:13995-4000. 1990
    ..were more stable to protease digestion than the collagenase A fragments of 775 residues from normal type I collagen. The results demonstrate that the effects of glycine substitutions on the thermal unfolding of type I ..
  7. ncbi The alpha 2 beta 1 integrin cell surface collagen receptor binds to the alpha 1 (I)-CB3 peptide of collagen
    W D Staatz
    Department of Pathology, Washington University School of Medicine, St Louis, Missouri 63110
    J Biol Chem 265:4778-81. 1990
    ..containing the purified receptor complex indicated that the alpha 2 beta 1 receptor recognized denatured type I collagen in a Mg2(+)-dependent manner...
  8. ncbi Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA
    J F Bateman
    Department of Pediatrics, University of Melbourne, Royal Children s Hospital, Australia
    J Biol Chem 263:11627-30. 1988
    Structurally abnormal type I collagen was identified in tissues and cultured fibroblasts from a case of lethal perinatal osteogenesis imperfecta...
  9. ncbi Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1)
    E Retief
    Hum Genet 69:304-8. 1985
    ..3-22.1. The location of the pro-alpha 1(I) collagen gene was found to be in band 17q21.31-2205...
  10. ncbi An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta
    K MacKay
    Department of Genetics, University of Leicester, UK
    Hum Mol Genet 2:1155-60. 1993
    A strategy has been developed to allow the screening for mutations in the cDNA of the type I collagen alpha 1 chain...
  11. ncbi Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta
    S D Chessler
    Department of Pathology, University of Washington, Seattle 98195
    J Biol Chem 268:18218-25. 1993
    ..These findings extend the range of lethal mutations in the type I collagen genes and help to identify regions of the carboxyl-terminal propeptide that may be important for chain-chain ..
  12. ncbi BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta
    S D Chessler
    Department of Pathology, University of Washington, Seattle 98195
    J Biol Chem 268:18226-33. 1993
    ..The recognition by BiP of such procollagen in OI cell strains shows that BiP plays a role in the physiological response to the production of some disease-producing abnormal proteins...
  13. ncbi Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene
    S F Grant
    Department of Medicine and Therapeutics, University of Aberdeen, UK
    Nat Genet 14:203-5. 1996
    ..b>Type I collagen is the major protein of bone encoded by the COLIA1 and COLIA2 genes...
  14. ncbi Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent
    J Korkko
    Collagen Research Unit, University of Oulu, Finland
    Hum Mutat 9:148-56. 1997
    ..About 80% of these identical mutations were in CpG dinucleotide sequences...
  15. pmc Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele
    J Korkko
    Center for Gene Therapy, Allegheny University of the Health Sciences, MCP Hahnemann School of Medicine, Philadelphia, PA 19102 1192, USA
    Am J Hum Genet 62:98-110. 1998
    ..Analysis of the data developed in this study and elsewhere revealed common sequences for mutations causing null alleles...
  16. ncbi Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online
    A M Lund
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Hum Mutat 13:503. 1999
    ..Data regarding the G688S substitution may suggest a different effect of the two a-chains in the development of dentinogenesis imperfecta (DI)...
  17. ncbi Interaction between the vitamin D receptor gene and collagen type Ialpha1 gene in susceptibility for fracture
    A G Uitterlinden
    Department of Internal Medicine, Erasmus University Medical School, Rotterdam, The Netherlands
    J Bone Miner Res 16:379-85. 2001
    ..Our data indicate that interlocus interaction is likely to be an important component of osteoporotic fracture risk...
  18. ncbi Absence of high-risk "s" allele associated with osteoporosis at the intronic SP1 binding-site of collagen Ialpha1 gene in Southern Chinese
    I Lambrinoudaki
    Department of Medicine, The University of Hong Kong, Queen Mary Hospital, PRC
    J Endocrinol Invest 24:499-502. 2001
    ..The absence of this "high risk" allele may in part account for the reduced fracture risk observed in the Chinese in comparison to Western populations...
  19. ncbi Association of collagen Ialpha 1 Sp1 polymorphism with the risk of prevalent fractures: a meta-analysis
    Z Efstathiadou
    Department of Internal Medicine, University of Ioannina School of Medicine, Greece
    J Bone Miner Res 16:1586-92. 2001
    ..Very large studies or meta-analyses are required to document subtle genetic differences in fracture risk...
  20. ncbi Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta
    J M Pace
    Department of Pathology, University of Washington, Seattle, Washington, USA
    Hum Mutat 18:319-26. 2001
    ..Triple helix formation was impaired, type I collagen alpha chains were post-translationally overmodified, and extracellular secretion was markedly reduced...
  21. ncbi Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density
    Natalia Garcia-Giralt
    Department of Genetics, Universitat de Barcelona, Spain
    J Bone Miner Res 17:384-93. 2002
    ..We named these binding sites as PCOL1 and PCOL2, respectively. In summary, this study describes two new SNPs in the COL1A1 promoter, which may affect bone mass determination...
  22. ncbi Relationship among VDR (BsmI and FokI), COLIA1, and CTR polymorphisms with bone mass, bone turnover markers, and sex hormones in men
    V Braga
    Rheumatology Unit, Valeggio S M, University of Verona, Italy
    Calcif Tissue Int 70:457-62. 2002
    ..The lower BMD in CC genotype is apparently associated in males with depressed bone formation and lower estradiol levels...
  23. ncbi Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity
    Shu Feng Lei
    Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Hunan, P R China
    J Bone Miner Metab 21:34-42. 2003
    ....
  24. ncbi Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture
    V Mann
    Bone Research Group, Institute of Medical Sciences, University of Aberdeen, Aberdeen AB25 2ZD, Scotland, UK
    Bone 32:711-7. 2003
    ..We conclude that the COL1A1 Sp1 alleles are associated with a modest reduction in BMD and a significant increase in risk of osteoporotic fracture, particularly vertebral fracture...
  25. ncbi The relationship between COLI A1 polymorphisms (Sp 1) and COLI A2 polymorphisms (Eco R1 and Puv II) with bone mineral density in Chinese men and women
    E M C Lau
    Department of Family and Community Medicine, Chinese University of Hong Kong, 4 F, School of Public Health, Prince of Wales Hospital, Shatin, Hong Kong
    Calcif Tissue Int 75:133-7. 2004
    ..across variable restriction sites of the COLI A1 and COLI A2 genes that encode the alpha 1 and 2 subunits of type I collagen. The relationship between these polymorphisms and bone mineral density (BMD) was studied in 683 Chinese men ..
  26. ncbi Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients
    Heini Hartikka
    Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, Oulu University Hospital, Finland
    Hum Mutat 24:147-54. 2004
    ..imperfecta (OI) is caused by mutations in COL1A1 and COL1A2 that code for the alpha1 and alpha2 chains of type I collagen. Phenotypes correlate with the mutation types in that COL1A1 null mutations lead to OI type I, and structural ..
  27. ncbi Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing
    Wayne A Cabral
    Bone and Extracellular Matrix Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 280:19259-69. 2005
    ..that these mutant collagens are less stable than the corresponding procollagens, which is not seen with other type I collagen helical mutations...
  28. ncbi Genetic and environmental determinants of bone mineral density in Chinese women
    H H L Lau
    Department of Medicine, The University of Hong Kong, Queen Mary Hospital, China
    Bone 36:700-9. 2005
    ..8% at trochanter). We conclude that BMD at various sites and at different time span of a woman is modified by different genetic and lifestyle factors, suggesting that BMD is highly dependent on gene-environmental interactions...
  29. pmc Collagen alpha1(I) gene (COL1A1) is repressed by RFX family
    Pritam Sengupta
    Department of Biochemistry, Boston University School of Medicine, Boston, Massachusetts 02118, USA
    J Biol Chem 280:21004-14. 2005
    ..Two dominant negative forms of RFX5 activate both collagen genes coordinately. Finally, CIITA RNA interference experiments indicate that CIITA induction is required for interferon gamma-mediated repression of both collagen type I genes...
  30. ncbi Contribution of the collagen I alpha1 and vitamin D receptor genes to the risk of hip fracture in elderly women
    Tuan V Nguyen
    Bone and Mineral Research Program, Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, New South Wales 2010, Australia
    J Clin Endocrinol Metab 90:6575-9. 2005
    ..Hip fracture is partially genetically determined. The present study was designed to examine the contributions of vitamin D receptor (VDR) and collagen I alpha1 (COLIA1) genotypes to the liability to hip fracture in postmenopausal women...
  31. ncbi An alpha-1 chain of type I collagen Sp1-binding site polymorphism in women suffering from stress urinary incontinence
    Paweł Skorupski
    Second Department of Gynecological Surgery, Skubiszewski Medical University of Lublin, Poland
    Am J Obstet Gynecol 194:346-50. 2006
    We examined the possible influence of G-->T substitution in transcription factor Sp1-binding site in the gene encoding alpha-1 chain of type I collagen on the risk of stress urinary incontinence.
  32. pmc Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study
    Stuart H Ralston
    Rheumatic Diseases Unit, University of Edinburgh, Western General Hospital Edinburgh, Edinburgh, United Kingdom
    PLoS Med 3:e90. 2006
    ....
  33. ncbi Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta
    Kwang Soo Lee
    Division of Genetic Disease, Department of Biomedical Sciences, National Institute of Health, Seoul, Korea
    Hum Mutat 27:599. 2006
    Mutations in the type I collagen genes COL1A1 and COL1A2 are responsible for the dominantly inherited connective tissue disorder osteogenesis imperfecta (OI)...
  34. ncbi Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women
    Tracy L Stewart
    Rheumatic Diseases Unit, Western General Hospital, Edinburgh EH4 2XU, United Kingdom
    J Clin Endocrinol Metab 91:3575-83. 2006
    ..The COLIA1 gene is a strong candidate for susceptibility to osteoporosis. The causal genetic variants are currently unclear, but the most likely are functional polymorphisms in the promoter and intron 1 of COLIA1...
  35. ncbi Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood
    Fransiska Malfait
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 28:387-95. 2007
    Mutations in the COL1A1 and COL1A2 genes, encoding the proalpha1 and 2 chains of type I collagen, cause osteogenesis imperfecta (OI) or Ehlers-Danlos syndrome (EDS) arthrochalasis type...
  36. ncbi Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia
    Chung Ling Liang
    Bright Eyes Clinic, Kaohsiung, Taiwan
    J Hum Genet 52:374-7. 2007
    ..Single nucleotide polymorphisms (SNPs) at the type I collagen alpha-1 gene (COL1A1) may cause different susceptibilities to myopia...
  37. ncbi The COL1A1 gene and high myopia susceptibility in Japanese
    Yumiko Inamori
    Department of Ophthalmology, Yokohama City University School of Medicine, Yokohama, Kanagawa, Japan
    Hum Genet 122:151-7. 2007
    ..6) and associated with high myopia (P = 0.028, Pc< 0.084). Together our results provide the first evidence for COL1A1 as a gene associated with high myopia...
  38. ncbi Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization
    Kayuri U Patel
    Department of Pathology at Texas Children s Hospital and Baylor College of Medicine, Houston, TX 77030, USA
    Hum Pathol 39:184-93. 2008
    ..Its detection may be particularly helpful in the differential diagnosis of atypical, fibrosarcomatous, and metastatic DFSP...
  39. doi Effects of hormone replacement therapy on bone mineral density in Turkish patients with or without COL1A1 Sp1 binding site polymorphism
    Mehmet Simsek
    Department of Obstetrics and Gynecology, Akdeniz University, School of Medicine, Antalya, Turkey
    J Obstet Gynaecol Res 34:73-7. 2008
    ..To evaluate the effects of hormone replacement therapy (HRT) on bone mineral density (BMD) in patients with or without COL1A1 Sp1 binding site polymorphism...
  40. ncbi Polymorphism of the gene encoding alpha-1 chain of collagen type I and a risk of pelvic organ prolapse--a preliminary study
    Paweł Skorupski
    II Katedra i Klinika Ginekologii, Akademia Medyczna w Lublinie
    Ginekol Pol 78:852-5. 2007
    Polymorphism of the gene encoding alpha-1 chain of type I collagen (COL1A1) may influence the mechanical properties of the pelvic floor connective tissue.
  41. pmc Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta
    James M Pace
    Department of Pathology, University of Washington, Seattle, Washington 98195, USA
    J Biol Chem 283:16061-7. 2008
    ..The milder OI phenotypes likely reflect a diminished amount of normal type I procollagen, small populations of overmodified heterotrimers, and proalpha1(I) homotrimers that are compatible with normal skeletal growth...
  42. doi COL1A1 Sp1-binding site polymorphism as a risk factor for genital prolapse
    Andrea Moura Rodrigues
    Section of Urogynecology and Pelvic Surgery, Department of Gynecology, Federal University of Sao Paulo, Sao Paulo, Brazil
    Int Urogynecol J Pelvic Floor Dysfunct 19:1471-5. 2008
    ..The control group included 209 women with stages 0 and I. The polymorphism of type I collagen Sp1-binding site was identified by amplification of the first intron of the COL1A1 gene...
  43. doi Differential unfolding of alpha1 and alpha2 chains in type I collagen and collagenolysis
    Paul S Nerenberg
    Department of Physics, Research Laboratory of Electronics, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    J Mol Biol 382:246-56. 2008
    ..mechanism of collagen degradation, we used molecular dynamics simulations to explore the structure of human type I collagen in the vicinity of the collagenase cleavage site...
  44. doi Absence of association between COL1A1 polymorphisms and high myopia in the Japanese population
    Hideo Nakanishi
    Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Sakyo, Kyoto, Japan
    Invest Ophthalmol Vis Sci 50:544-50. 2009
    ..The collagen type I alpha 1 (COL1A1) gene was recently reported to be associated with high myopia in the Japanese population. To validate this positive association, the tag single-nucleotide polymorphism (tSNP) approach was used...
  45. pmc COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus
    Ravikanth Metlapally
    Center for Human Genetics, North Carolina, USA
    Invest Ophthalmol Vis Sci 50:4080-6. 2009
    ..This study was conducted to investigate whether these collagen genes are associated and/or genetically linked with myopia in large Caucasian family datasets...
  46. doi Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis
    Huilin Jin
    Rheumatic Diseases Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK
    Hum Mol Genet 18:2729-38. 2009
    ..This is consistent with a model whereby increased COL1A1 transcription predisposes to osteoporosis, probably by increasing production of the alpha 1 chain and disrupting the normal ratio of collagen type 1 alpha 1 and alpha 2 chains...
  47. doi Dermatofibrosarcoma protuberans: clinical, pathological, and genetic (COL1A1-PDGFB ) study with therapeutic implications
    Beatriz Llombart
    Department of Dermatology, University of Valencia, Valencia, Spain
    Histopathology 54:860-72. 2009
    ....
  48. doi Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes
    David P Dimasi
    Department of Ophthalmology, Flinders University, Adelaide, SA 5042, Australia
    Hum Genet 127:33-44. 2010
    Osteogenesis imperfecta (OI) is a rare connective tissue disorder caused by mutations in the type I collagen genes, COL1A1 and COL1A2, and is characterised by low bone mass and bone fragility...
  49. doi Enhancement of absolute fracture risk prognosis with genetic marker: the collagen I alpha 1 gene
    Bich N H Tran
    Osteoporosis and Bone Biology Program, Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, 2010 Sydney, NSW, Australia
    Calcif Tissue Int 85:379-88. 2009
    ..The nonograms presented here can be useful for individualizing the short- and intermediate-term prognosis of fracture risk and help identify high-risk individuals for intervention for appropriate management of osteoporosis...
  50. pmc Polymorphisms in the 5' flank of COL1A1 gene and osteoporosis: meta-analysis of published studies
    H Jin
    Rheumatic Disease Unit, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh EH42XU, UK
    Osteoporos Int 22:911-21. 2011
    ..Polymorphisms of all three sites were associated with BMD, and rs1800012 was associated with fracture but effect sizes were modest...
  51. doi Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta
    Z Yang
    Department of Pathology, the First Affiliated Hospital of Sun Yat Sen University, Guangzhou, PR China
    Genet Mol Res 10:177-85. 2011
    Osteogenesis imperfecta is normally caused by an autosomal dominant mutation in the type I collagen genes COL1A1 and COL1A2. The severity of osteogenesis imperfecta varies, ranging from perinatal lethality to a very mild phenotype...
  52. doi Candidate DNA methylation drivers of acquired cisplatin resistance in ovarian cancer identified by methylome and expression profiling
    C Zeller
    Epigenetics Unit, Department of Surgery and Cancer, Imperial College London, London, UK
    Oncogene 31:4567-76. 2012
    ..This combined genomics approach has identified further potential key drivers of chemoresistance whose expression is silenced by DNA methylation that should be further evaluated as clinical biomarkers of drug resistance...
  53. pmc X4 Human immunodeficiency virus type 1 gp120 promotes human hepatic stellate cell activation and collagen I expression through interactions with CXCR4
    Feng Hong
    Department of Medicine, Mount Sinai School of Medicine, New York, New York, United States of America
    PLoS ONE 7:e33659. 2012
    ..We therefore examined the in vitro impact of X4 gp120 on HSC activation, collagen I expression, and underlying signaling pathways and examined the in vivo expression of gp120 in HIV/HCV coinfected livers...
  54. ncbi Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes
    L Nuytinck
    Centre for Medical Genetics, University Hospital Ghent, Belgium
    Hum Genet 97:324-9. 1996
    ..a point mutation causing the substitution of serine for glycine at position 661 of the alpha1(I) chain of type I collagen in a child with a severe form of osteogenesis imperfecta...
  55. ncbi Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta
    A M Lund
    Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
    Hum Mutat 9:378-82. 1997
  56. ncbi COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta
    Egle Benusiené
    Department of Human and Medical Genetics, Vilnius University, Faculty of Medicine, Santariskiu street 2, LT 2 21 Vilnius, Lithuania
    J Appl Genet 44:95-102. 2003
    ..1668delT, c.1667insC, c.4337insC, IVS19+1G > A, IVS20-2A > G, IVS22-1G > T) appeared to be novel, i.e. not yet registered in the Human Type I and Type III Collagen Mutations Database (http://www.le.ac.uk/genetics/collagen)...
  57. ncbi Association between bone mineral density and polymorphisms of the VDR, ERalpha, COL1A1 and CTR genes in Spanish postmenopausal women
    E Bandres
    Laboratory of Biotechnology and Pharmacogenomics, Clinica Universitaria de Navarra, University of Navarra, Pamplona, Spain
    J Endocrinol Invest 28:312-21. 2005
    ..Of all the studied gene polymorphisms, the FokI VDR gene polymorphism seems to be the strongest BMD genetic determinant of postmenopausal Spanish women...
  58. ncbi Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation
    Benjamin U Nwosu
    Pediatric Endocrinology Inter Institute Training Program, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA
    Ophthalmic Genet 26:135-8. 2005
    ..We speculate that the course of his disease and, perhaps, its co-existence with OI could be exacerbated by his collagen type-I defect, although no causality can be established by this report of a single case...
  59. ncbi Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix
    Elena Makareeva
    Section on Physical Biochemistry, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 281:6463-70. 2006
    ..participate in a highly stable folding domain, acting as the stabilizing anchor for the amino end of the type I collagen triple helix...
  60. doi Predicting the clinical lethality of osteogenesis imperfecta from collagen glycine mutations
    Dale L Bodian
    Genetics Department, School of Medicine, Stanford University, Stanford, California 94305, USA
    Biochemistry 47:5424-32. 2008
    ..glycine residues present in the repeating Gly-X-Y sequence characterizing the triple-helical region of type I collagen. A composite model was developed for predicting the clinical lethality resulting from glycine mutations in ..
  61. ncbi Prediction of osteoporotic fractures by bone densitometry and COLIA1 genotyping: a prospective, population-based study in men and women
    F E McGuigan
    Department of Medicine and Therapeutics, Foresterhill, Aberdeen, UK
    Osteoporos Int 12:91-6. 2001
    ..We conclude that in our population, COLIA1 genotyping predicts fractures independently of bone mass and interacts with bone densitometry to help identify women who are at high and low risk of sustaining osteoporotic fractures...
  62. pmc Common variants at the PCOL2 and Sp1 binding sites of the COL1A1 gene and their interactive effect influence bone mineral density in Caucasians
    P Y Liu
    Osteoporosis Research Center, Creighton University, Omaha, NE 68131, USA
    J Med Genet 41:752-7. 2004
    ..The collagen type I alpha 1 (COL1A1) gene is a prominent candidate gene for osteoporosis. Here, we examined whether genetic variants at the COL1A1 gene can influence BMD variation...
  63. ncbi Bone fragility in transgenic mice expressing a mutated gene for type I procollagen (COL1A1) parallels the age-dependent phenotype of human osteogenesis imperfecta
    R F Pereira
    Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Bone Miner Res 10:1837-43. 1995
    ..The mutated gene has been shown to cause depletion of type I collagen in the transgenic mice because it generated shortened pro alpha 1(I) chains that bound to and produced ..
  64. ncbi Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype
    Wayne A Cabral
    Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 28:396-405. 2007
    The most common mutations in type I collagen causing types II-IV osteogenesis imperfecta (OI) result in substitution for glycine in a Gly-Xaa-Yaa triplet by another amino acid...
  65. ncbi EM703, the new derivative of erythromycin, inhibits transcription of type I collagen in normal and scleroderma fibroblasts
    Hideyuki Ikeda
    Department of Dermatology, Dokkyo University School of Medicine, Mibu, Japan
    J Dermatol Sci 49:195-205. 2008
    ..Macrolides have been reported to show various pharmacological activities. Recently, it was reported that EM703, a new derivative of erythromycin, improved bleomycin-induced pulmonary fibrosis in mice...
  66. pmc Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
    Joan C Marini
    Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 28:209-21. 2007
    ..Most cases of OI are caused by mutations in type I collagen. We have identified and assembled structural mutations in type I collagen genes (COL1A1 and COL1A2, encoding ..
  67. ncbi Type I procollagen synthesis is regulated by steroids and related hormones in human osteosarcoma cells
    A Mahonen
    Department of Biochemistry and Biotechnology, University of Kuopio, Finland
    J Cell Biochem 68:151-63. 1998
    Change in the synthesis of type I collagen, the major extracellular matrix component of skin and bone, are associated with normal growth, tissue repair processes, and several pathological conditions...
  68. ncbi Ocular hypertension in mice with a targeted type I collagen mutation
    Makoto Aihara
    Hamilton Glaucoma Center, University of California San Diego, La Jolla, California 92093, USA
    Invest Ophthalmol Vis Sci 44:1581-5. 2003
    ..To evaluate intraocular pressure (IOP) in transgenic mice with a targeted mutation in the gene for the alpha1 subunit of collagen type I...
  69. doi Dietary fluoride restriction does not alter femoral biomechanical strength in col1a2-deficient (oim) mice with type I collagen glomerulopathy
    Stephanie M Carleton
    Department of Biochemistry, University of Missouri, Columbia, MO 65211, USA
    J Nutr 140:1752-6. 2010
    ..OI murine (oim) model mice carry a mutation in the col1a2 gene causing aberrant production of homotrimeric type I collagen [α1(I)(3)], leading to bone fragility and glomerular accumulation of type I collagen...
  70. ncbi Differences in regulation of type I collagen synthesis in primary and passaged hepatic stellate cell cultures: the role of alpha5beta1-integrin
    Milan Dodig
    Department of Gastroenterology and Hepatology, Cleveland Clinic and Cleveland Clinic Lerner College of Medicine, 9500 Euclid Avenue, Cleveland, OH 44195, USA
    Am J Physiol Gastrointest Liver Physiol 293:G154-64. 2007
    ..Our hypothesis was that different mechanisms govern type I collagen synthesis depending on stage of HSC activation...
  71. doi Comparative vertebrate evolutionary analyses of type I collagen: potential of COL1a1 gene structure and intron variation for common bone-related diseases
    Daryn A Stover
    Center for Evolutionary Medicine and Informatics, The Biodesign Institute and School of Life Sciences, Arizona State University, USA
    Mol Biol Evol 28:533-42. 2011
    Collagen type I alpha 1 (COL1a1), which encodes the primary subunit of type I collagen, the main structural and most abundant protein in vertebrates, harbors hundreds of mutations linked to human diseases like osteoporosis and ..
  72. ncbi Endo180 binds to the C-terminal region of type I collagen
    Emily K Thomas
    Vanderbilt Ingram Cancer Center, Department of Cancer Biology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA
    J Biol Chem 280:22596-605. 2005
    b>Type I collagen is a fibril-forming heterotrimer composed of two alpha1 and one alpha2 chains and plays a crucial role in cell-matrix adhesion and cell differentiation...
  73. doi A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family
    Xin Yi Xia
    Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, 305 East Zhongshan Road, Nanjing 210002, PR China
    Clin Chim Acta 398:148-51. 2008
    ..have autosomal dominant mutations in one of the two genes, COL1A1 and COL1A2, that encode the alpha chains of type I collagen. While the diagnosis of OI is still based on clinical and radiological grounds, there is a growing demand for ..
  74. pmc Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta
    Helena E Christiansen
    Molecular and Cellular Biology Program, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 86:389-98. 2010
    ..About 90% of individuals with OI have dominant mutations in the type I collagen genes COL1A1 and COL1A2...
  75. ncbi Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV
    A De Vos
    Centre for Reproductive Medicine, University Hospital, Dutch Speaking Brussels Free University, Vrije Universiteit Brussels, Belgium
    Hum Genet 106:605-13. 2000
    ..bones and decreased bone mass (osteopenia), as a result of mutations in the genes that encode the chains of type I collagen, the major protein of bone...
  76. ncbi Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta
    B G Campbell
    Department of Biomedical Sciences, College of Veterinary Medicine, Cornell University, Ithaca, New York 14853, USA
    Arch Biochem Biophys 384:37-46. 2000
    ..Amino acid identity was 97.7%. Total RNA and type I collagen were collected from cultured skin fibroblasts of a 12-week-old male golden retriever with pathologic ..
  77. ncbi Osteoblastic response to the defective matrix in the osteogenesis imperfecta murine (oim) mouse
    I Kalajzic
    Department of Genetics and Developmental Biology, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030, USA
    Endocrinology 143:1594-601. 2002
    ....
  78. ncbi Studies of otic capsule morphology and gene expression in the Mov13 mouse--an animal model of type I osteogenesis imperfecta
    Konstantina M Stankovic
    Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, Mass 02114 3096, USA
    Audiol Neurootol 12:334-43. 2007
    ..bones characterized by bone fragility and blue sclera, which can result from mutations in genes encoding for type I collagen--the COL1A1 and COL1A2 genes...
  79. doi Effect of unloading followed by reloading on expression of collagen and related growth factors in rat tendon and muscle
    K M Heinemeier
    Institute of Sports Medicine, Bispebjerg Hospital, DK 2400 Copenhagen NV, Denmark
    J Appl Physiol (1985) 106:178-86. 2009
    ..Furthermore, the tendon response was clearly different and less pronounced than the muscle tissue response...
  80. ncbi [Evaluation of toxic doses of fluorine on expression of collagen genes and synthesis of some collagen proteins in rat skin]
    Tomasz Olszowski
    Ze Studium Doktoranckiego przy Katedrze i Zakladzie Biochemii i Chemii Pomorskiej Akademii Medycznej w Szczecinie, Al Powstancow Wlkp 72, 70 111 Szczecin
    Ann Acad Med Stetin 49:45-62. 2003
    ..4. Further research on fluoride penetration to the skin in experimental animals is needed in order to elucidate the relatively low toxicity of fluoride in this tissue...
  81. ncbi Transgenic mice that express a mini-gene version of the human gene for type I procollagen (COL1A1) develop a phenotype resembling a lethal form of osteogenesis imperfecta
    J S Khillan
    Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107
    J Biol Chem 266:23373-9. 1991
    ..The results demonstrate that a mutated type I procollagen gene based on the model of procollagen suicide can be used to produce a severe phenotype of osteogenesis imperfecta that is genetically transmitted...
  82. ncbi Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice
    A Forlino
    Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 274:37923-31. 1999
    ..The moderately severe OI phenotype was obtained from an alpha1(I) Gly(349) --> Cys substitution in type I collagen, reproducing the mutation in a type IV OI child...
  83. ncbi Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength
    Kenneth M Kozloff
    Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, University of Michigan, Ann Arbor, Michigan 48109 0486, USA
    J Bone Miner Res 19:614-22. 2004
    ..This adaptation is accomplished without a corresponding improvement in geometric resistance to bending, suggesting an improvement in matrix material properties...
  84. doi Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition
    Donald Basel
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon 97239, USA
    Genet Med 11:375-85. 2009
    ..osteogenesis imperfecta, mutations in either of the genes encoding the pro-alpha1 or pro-alpha2 chains of type I collagen (COL1A1 or COL1A2) can be identified...
  85. ncbi [Osteogenesis imperfecta and achievements in cell and gene therapy]
    Inga Marijanovic
    Division of Biology, Department of Molecular Biology, Faculty of Science, University of Zagreb, Croatia
    Acta Med Croatica 64:191-200. 2010
    ..of this inheritable disorder of connective tissue are mutations affecting the COL1A1 and COL1A2 genes of type I collagen. There is no cure for OI and current treatments include surgical intervention, use of prostheses and physical ..
  86. pmc Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta
    Joan C Marini
    Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, MD 20892, USA
    Cell Tissue Res 339:59-70. 2010
    ..is a dominant genetic disorder of connective tissue caused by mutations in either of the two genes encoding type I collagen, COL1A1 and COL1A2...
  87. ncbi Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains
    R L Slayton
    Department of Pediatric Dentistry, College of Dentistry, University of Iowa, Iowa City, IA 52242, USA
    Matrix Biol 19:1-9. 2000
    Osteogenesis imperfecta (OI) is a heterogeneous disorder of type I collagen resulting in varying degrees of severity. The mildest form of OI (Type I) is associated with bone fragility, normal or near normal stature and blue sclerae...
  88. ncbi Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen
    Anna Galicka
    Department of Medical Chemistry, Medical Academy of Białystok, Białystok, Poland
    Mol Cell Biochem 248:49-56. 2003
    ..Cultured skin fibroblasts from the proband produced both normal and mutant type I collagen which was secreted into the medium...
  89. ncbi Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV
    Rebecca Pollitt
    Sheffield Molecular Genetics Service, Sheffield Children s NHS Trust, Sheffield, United Kingdom
    Hum Mutat 27:716. 2006
    ..diagnosis of OI type I-IV have a mutation in the COL1A1 or COL1A2 genes which encode the two alpha chains of type I collagen, the major component of the bone matrix...
  90. pmc Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta
    L D Spotila
    Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Philadelphia, PA 19107 6799
    Proc Natl Acad Sci U S A 88:5423-7. 1991
    Mutations in the two genes for type I collagen (COL1A1 or COL1A2) cause osteogenesis imperfecta (OI), a heritable disease characterized by moderate to extreme brittleness of bone early in life...
  91. ncbi Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta model
    Natalia V Kuznetsova
    Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health, Bldg 9, Rm 1E 127, Bethesda, MD 20892, USA
    Matrix Biol 23:101-12. 2004
    ....
  92. pmc CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta
    Dustin Baldridge
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Hum Mutat 29:1435-42. 2008
    ..osteogenesis imperfecta (OI) is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I collagen. Recently, dysregulation of hydroxylation of a single proline residue at position 986 of both the triple-..
  93. pmc Alendronate treatment of the brtl osteogenesis imperfecta mouse improves femoral geometry and load response before fracture but decreases predicted material properties and has detrimental effects on osteoblasts and bone formation
    Thomas E Uveges
    Bone and Extracellular Matrix Branch, The Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD, NIH, Bethesda, Maryland, USA
    J Bone Miner Res 24:849-59. 2009
    ..Beneficial and detrimental changes appear concomitantly. Limiting cumulative bisphosphonate exposure of OI bone will minimize detrimental effects...
  94. ncbi Transcriptional activation of the alpha1(I) procollagen gene and up-regulation of alpha1(I) and alpha1(III) procollagen messenger RNA in dermal fibroblasts from tight skin 2 mice
    P J Christner
    Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107 5541, USA
    Arthritis Rheum 41:2132-42. 1998
    ....
  95. ncbi Dermatofibrosarcoma protuberans of the vulva and groin: detection of COL1A1-PDGFB fusion transcripts by RT-PCR
    Neriman Gokden
    Lauren V Ackerman Laboratory of Surgical Pathology, Barnes Jewish Hospital, Washington University Medical Center, St Louis, MO, USA
    J Cutan Pathol 30:190-5. 2003
    ..The trunk and extremities are the anatomic sites of predilection for DFSP, whereas the vulva and groin are quite uncommon sites of involvement...
  96. ncbi [From cytogenetics to cytogenomics of dermatofibrosarcoma protuberans family of tumors]
    Laurence Bianchini
    Laboratoire de génétique des tumeurs solides, Centre hospitalier universitaire de Nice et CNRS UMR 6543, Faculte de Medecine, 28 Avenue de Valombrose, 06107 Nice
    Bull Cancer 94:179-89. 2007
    ....
  97. ncbi Differential sensitivity to imatinib of 2 patients with metastatic sarcoma arising from dermatofibrosarcoma protuberans
    Robert G Maki
    Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10021 6007, USA
    Int J Cancer 100:623-6. 2002
    ..Imatinib may be useful for patients with locally advanced DFSP, when other options for local therapy are limited...
  98. doi COL1A1:PDGFB chimeric transcripts are not present in indeterminate fibrohistiocytic lesions of the skin
    Wei Lien Wang
    Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, USA
    Am J Dermatopathol 32:149-53. 2010
    ..Although indeterminate fibrohistiocytic lesions share some features with DFSP, the lack of COL1A1-PDGFB chimeric transcripts suggests that they are distinct entities...
  99. ncbi Morphological classification of nuchal skin in human fetuses with trisomy 21, 18, and 13 at 12-18 weeks and in a trisomy 16 mouse
    C S von Kaisenberg
    Department of Anatomy II, University of Freiburg, Germany
    Anat Embryol (Berl) 197:105-24. 1998
    ....
  100. ncbi Detection of COL1A1-PDGFB fusion transcripts and PDGFB/PDGFRB mRNA expression in dermatofibrosarcoma protuberans
    Tomonari Takahira
    The Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Mod Pathol 20:668-75. 2007
    ..The PDGFB and PDGFRB mRNA expression levels showed a good correlation (r=0.76, P<0.0001). These results indicate that the fusion protein, which is processed by the COL1A1-PDGFB transcripts, can serve as a functional ligand for PDGFRB...
  101. doi Biologic characteristics of fibrous hamartoma from congenital pseudarthrosis of the tibia associated with neurofibromatosis type 1
    Tae Joon Cho
    Department of Orthopaedic Surgery, Seoul National University Children s Hospital, 28 Yeongeon dong Jongno gu, Seoul 110 744, South Korea
    J Bone Joint Surg Am 90:2735-44. 2008
    ..We investigated the biologic characteristics of fibrous hamartoma cells in order to better understand the pathogenesis of this rare disease...

Research Grants71

  1. Mild Ol - Toward Better Understanding and Treatment
    Peter Byers; Fiscal Year: 2004
    ..The majority of affected individuals have mutations in the two type I collagen genes, COL1A1 and COL1A2 but about 10-15% have mutations in other genes, none of which have yet been ..
  2. A Chromosome 10 QTL Associated with IGF-1 and Bone Mass
    CLIFFORD JAMES ROSEN; Fiscal Year: 2010
    ..These studies will also determine how specific alleles in the Igfl gene affect critical post-transcriptional events that ultimately determine circulating levels of IGF-I. ..
  3. David W Rowe; Fiscal Year: 2016
    ....
  4. Optimizing Normal Collagen Replacement in Osteogenesis Imperfecta
    Sarah L Dallas; Fiscal Year: 2013
    ..Most cases of OI are caused by mutations in type I collagen genes that result in reduced amounts of normal collagen or structural defects of the triple helix, leading to ..
  5. GENE TARGETING STRATEGIES FOR THE TREATMENT OF OSTEOGENESIS IMPERFECTA
    David W Russell; Fiscal Year: 2010
    Osteogenesis Imperfecta (Ol) is a genetic disease caused by mutations in the type I collagen genes COL1A1 or COL1A2 that can result in major skeletal abnormalities, fractures, and premature death...
  6. GENETIC AND MOLECULAR BASIS OF OSTEOGENESIS IMPERFECTA
    Daniel Cohn; Fiscal Year: 1992
    ..characterize by bone fragility, which commonly results from a defect in the synthesis or structure of type I collagen. The aims of this proposal are 1) to characterize point mutations, deletions, and duplications in the genes ..
  7. Inhibition of Collagen Synthesis by RNA Interference
    Kyonggeun Yoon; Fiscal Year: 2003
    ..To develop molecular approaches applicable for treatment of fibrotic diseases, we propose to inhibit the type I collagen synthesis using a novel strategy of gene silencing by RNA interference (RNAi)...
  8. BMP-1, MAMMALIAN TOLLOID AND RELATED DEVELOPMENTAL GENES
    DANIEL GREENSPAN; Fiscal Year: 1999
    ....
  9. Gene targeting with AAV vectors for the treatment of Osteogenesis Imperfecta
    David R Deyle; Fiscal Year: 2012
    ..The completion of this project and the training received at the University of Washington will prepare the principle investigator to be a leading researcher in gene therapy. ..
  10. OSTEOGENESIS IMPERFECTA--COLLAGEN SPLICE MUTANT MRNA
    ERNESTO VALIENTE RIVERA; Fiscal Year: 2000
    ..imperfecta (OI) exhibit different mutations in collagen genes that alter the synthesis or structure of type I collagen and result in different OI phenotypes...
  11. Patricia J Keely; Fiscal Year: 2014
    ..These experiments are designed to understand the underlying molecular mechanisms by which the dense extracellular matrix regulates breast cell behavior and invasion and progression, and could suggest future targets for therapy. ..
  12. MARROW STROMAL CELLS IN OSTEOGENESIS IMPERFECTA MODEL
    Radhika Pochampally; Fiscal Year: 2004
    ..cells from the patients with OI can be gene-engineered to correct the deleterious effects of mutations in type I collagen that produce the disease...
  13. TYPE I COLLAGEN MRNA IN OSTEOGENESIS IMPERFECTA
    David Rowe; Fiscal Year: 1999
    ....
  14. OSTEOBLASTIC STEM CELLS AS GENE THERAPY
    Stephen Clark; Fiscal Year: 2000
    ....
  15. MARROW STROMAL CELLS AND GENE THERAPY OF BONE DISEASES
    Darwin Prockop; Fiscal Year: 2000
    ....
  16. Frank W LoGerfo; Fiscal Year: 2016
    ..In addition, this work will undoubtedly broaden our understanding of vascular wall biology. ..
  17. Yongbo Lu; Fiscal Year: 2016
    ....
  18. ROLAND E BARON; Fiscal Year: 2014
    ....
  19. Role and Mechanism of BMP4 and BMP2 Action and Signaling in Bone
    STEPHEN EUBANK HARRIS; Fiscal Year: 2011
    ..In vitro primary osteoblast cell cultures, before and after specific gene deletion will be used to determine candidate mechanism of action of the single BMP2 or BMP4 and the combined deletion of both BMP2 and BMP4. ..
  20. Bart O Williams; Fiscal Year: 2016
    ....
  21. Jose Luis Millan; Fiscal Year: 2016
    ..The novel TNAP activators that we have discovered may prove of interest for the prevention and treatment of osteoporosis. ..
  22. MECHANICAL LOADING OF BONE AND PROSTAGLANDINS
    Carol C Pilbeam; Fiscal Year: 2010
    ..A better understanding of how mechanical loading regulates bone may help us to develop better therapies for prevention and treatment of osteoporosis. ..
  23. Guang Zhou; Fiscal Year: 2014
    ..Ultimately, new therapies based on controlling the JAB1- mediated tumorigenesis will open a new era in treating osteosarcoma and other more prevalent tumors. ..
  24. C/EBP Regulation of Dentinogenesis
    John Harrison; Fiscal Year: 2009
    ....
  25. GFP Reporters for the chondrocyte lineage
    David Rowe; Fiscal Year: 2009
    ..The GFP tool set that this grant will produce will be the first step in a more knowledge based approach to regenerative medicine for diseases of the joint. ..
  26. Molecular Analysis in Classical Ehlers-Danlos Syndrome
    Anna Mitchell; Fiscal Year: 2009
    ..with alterations in the COL5A1, COL5A2 (components of type V collagen), COL1A1, COL1A2 (components of type I collagen), and TNXB (tenascin X) genes resulting in the phenotype...
  27. NUTRITION, GENES AND HIP FRACTURE RISK IN UTAH
    Ronald Munger; Fiscal Year: 2000
    ..The investigators state that the multidisciplinary approach proposed may lead to effective public health interventions to reduce the burden of hip fractures. ..
  28. GENE REGULATION IN BONE UNDER MECHANICAL STRESS
    Dubravko Pavlin; Fiscal Year: 1999
    ..This approach will indicate whether the pathway for transduction of a mechanical signal is similar to, or distinct from, pathways used by known growth factors and hormones that modulate type 1 collagen production in osteoblasts. ..
  29. 3' end formation of human type I and II collagen mRNAs
    CAROL LUTZ; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  30. HORMONAL REGULATION OF BONE COLLAGEN METABOLISM
    BARBARA KREAM; Fiscal Year: 1999
    ..If PTH is to be used as an treatment for osteoporosis, these studies will be important for understanding the changes that may occur in bone with long-term PTH therapy. ..
  31. RAMP Involvement in PTH Regulation of Bone Metabolism
    JEANNE NERVINA; Fiscal Year: 2006
    ..These studies will help us understand the mechanisms of PTH-induced RAMP1 and RAMP3 gene expression and they will unveil the impact of these genes on osteoblast function. ..
  32. MECHANOTRANSDUCTION IN BONE
    David Burr; Fiscal Year: 2003
    ..Data generated by this Program are intended to define some mechanisms by which fluid forces can regulate gene expression, and will attempt to validate these mechanisms by in vivo studies. ..
  33. CTGF IN LUNG FIBROGENESIS
    Joseph Lasky; Fiscal Year: 2004
    ..We have found that CTGF upregulates lung fibroblast alpha 1 type I collagen expression in vitro and that CTGF expression is upregulated during the development of fibrosis in the two ..
  34. Linking Collagen Genotypes to Molecular Phenotypes
    TERI KLEIN; Fiscal Year: 2007
    ..function and phenotypes observed in molecular dynamics simulations to construct a working model of type I collagen for OI-associated mutations; and, (4) to develop methods to simulate the folding and unfolding of native and ..
  35. PPAR-GAMMA REGULATION ALPHA 1 TYPE I COLLAGEN PROMOTER
    SHAROM YAVROM; Fiscal Year: 2004
    ..These experiments will define the molecular basis for inhibition of collagen gene expression by PPARgamma and will test the potential of this mode if intervention as a novel therapy for alcoholic liver fibrosis. ..
  36. Communication between Kupffer cells and stellate cells
    Natalia Nieto; Fiscal Year: 2009
    ..We hope that this co-culture model will help us to define the effects of Kupffer cells on the stellate cell fibrogenic response and to dissect potential therapeutic targets for preventing liver disease. ..
  37. The Challenges of Autosomal Recessive and Other New Forms of OI
    Peter Byers; Fiscal Year: 2008
    ..of individuals with OI have mutations in one of the two genes (COL1A1 and COL1A2) that encode the chains of type I collagen, and these mutations are either inherited in a dominant fashion through several generations or arise de novo ..
  38. New Research Strategies in Osteogenesis Imperfecta
    Peter Byers; Fiscal Year: 2006
    ..unreadable] [unreadable] The majority of affected individuals have a mutation in either of the two type I collagen genes, COL1A1 and COL1A2, but about 10-15% likely have mutations in other genes, none of which have yet been ..
  39. EXTRACELLULAR MATRIX IN MICE LACKING THROMBOSPONDIN 2
    Paul Bornstein; Fiscal Year: 2006
    ..These experiments have the potential to develop the means to improve wound healing, and the performance of implanted biosensors and delivery devices, in human subjects. ..
  40. TOPICAL RETINOIDS FOR DIABETIC FOOT ULCERS
    James Varani; Fiscal Year: 2003
    ..abstract_text> ..
  41. Gordon Research Conferences: Collagen 2003, 2005, 2007
    Peter Byers; Fiscal Year: 2003
    ..The funds will be used to partially defray conferee travel expenses and registration fees for invited speakers and for young members of the research community. ..
  42. Mechanisms of MMP-3 Action in Acute Lung Injury
    James Varani; Fiscal Year: 2005
    ..These studies will provide an overall understanding of the mechanism(s) by which MMP-3 contributes to acute lung injury. ..
  43. IDENTIFICATION AND EXPRESSION OF SKIN SPECIFIC GENES
    Peter Byers; Fiscal Year: 2002
    ....
  44. SQUAMOUS EPITHELIAL CELL INVASION IN ORGAN CULTURE
    James Varani; Fiscal Year: 2001
    ..abstract_text> ..
  45. Use of GFP Markers to Assess the Effect of PTH
    Yu Hsiung Wang; Fiscal Year: 2004
    ..Results of this application will not only provide the information to understand the mechanism of anabolic effect of PTH at the cellular level, but also present a new model to examine the progression of osteoprogenitor lineage. ..
  46. BIOGENESIS AND FUNCTION OF CONNECTIVE TISSUE PROTEINS
    Paul Bornstein; Fiscal Year: 2004
    The transcriptional regulation of the genes encoding the two type I collagen chains, alpha1(I) and alpha2(I), is one of special interest because these genes are expressed at widely different levels that correlate with the tissue ..
  47. IN VITRO INITIATION OF BIOLOGICAL CALCIFICATION
    Adele Boskey; Fiscal Year: 2009
    ....
  48. OSTEOPOROSIS, COLLAGEN CROSS-LINKS & BIOMECHANICS
    Adele Boskey; Fiscal Year: 2003
    ..The proposed studies will be based on histology, FTIR Imaging (FTIRI), biomechanical, and biochemical techniques and represent a novel approach to evaluating the organic matrix inosteoporosis. ..
  49. THE STRUCTURE OF CALBINDIN-D28K
    Rajiv Kumar; Fiscal Year: 2004
    ..These findings will potentially be of significance in the understanding of neurodegenerative disorders, cerebellar function and long-term hippocampal potentiation. ..
  50. 8th Conference - Chemistry & Biology Mineralized Tissue
    WILLIAM LANDIS; Fiscal Year: 2004
    ....
  51. PTH STIMULATED BONE FORMATION
    ROBERT JILKA; Fiscal Year: 2004
    ..abstract_text> ..
  52. GROWTH AND DEVELOPMENT OF THE MANDIBULAR ARCH
    Mina Mina; Fiscal Year: 2004
    ..5) Later in mandibular development Prx1 and Prx2 play essential roles in perichondrium- mediated appositional growth of Meckel's cartilage. ..
  53. Tissue Engineering for the Treatment of Delayed Healing
    Vincent Falanga; Fiscal Year: 2007
    ..These studies will advance our understanding of how to reconstitute the wound bed and whether it is possible to correct the abnormal cellular phenotype in non-healing wounds. ..
  54. MINERAL-MATRIX RELATIONS IN CALCIFYING TISSUES
    WILLIAM LANDIS; Fiscal Year: 2006
    ....
  55. MOLECULAR EPIDEMIOLOGY OF LUNG CANCER
    Chu Chen; Fiscal Year: 2010
    ..g. Rosaceae fruits and Cruciferae vegetables), and food-derived nutrients (e.g. carotenoids, vitamin C, and vitamin E). ..
  56. BREAST CANCER AND GENE POLYMORPHISMS IN CHINESE WOMEN
    Chu Chen; Fiscal Year: 2003
    ..Our ultimate goal is to provide information to identify women at high risk of breast cancer, and to aid in the formulation of prevention strategies for these women. ..
  57. MECHANISMS OF BIOENGINEERED SKIN IN HUMAN WOUNDS
    Vincent Falanga; Fiscal Year: 2003
    ..The proposed studies will advance our understanding of how a bioengineered skin product works in a human chronic wound and provide insight into further bioengineering needs. ..
  58. PATHOGENIC MECHANISMS OF VENOUS DISEASE
    Vincent Falanga; Fiscal Year: 2004
    ..The proposed studies should advance knowledge of the pathogenesis of venous ulceration and fibrosis. ..
  59. BAG-75: UNIQUE MARKER OF PRIMARY BONE FORMATION
    JEFFREY GORSKI; Fiscal Year: 2003
    ..Stimulation of appositional formation by lamellar bone would not be expected to have the same effect. These future functional studies require determination of the BAG-75 cDNA sequence. ..
  60. C/EBP Regulation of Osteoblast Function
    John Harrison; Fiscal Year: 2005
    ..The proposed studies should help to elucidate role of transcription factors, specifically members of the C/EBP family, in the control of osteoblast differentiation and bone mass. ..
  61. THE PHYSIOLOGY AND METABOLISM OF VITAMIN D
    Rajiv Kumar; Fiscal Year: 2003
    ..Results of this investigation could lead to a better understanding of the pathogenesis of bone diseases and the formulation of new therapeutic strategies in disorders such as hyperparathyroidism and osteoporosis. ..
  62. Hyperoxaluria and Nephrolithiasis After Gastric Bypass Surgery for Obesity
    Rajiv Kumar; Fiscal Year: 2008
    ..Finally, we will study why these complications occur and we will develop ways in which to prevent kidney stones and loss of kidney function after gastric bypass surgery. [unreadable] [unreadable] [unreadable]..
  63. Migration of Mature and Immature Dendritic Cells
    HENDRIK VAN DEVENTER; Fiscal Year: 2006
    ..All have extensive experience in developing the careers o f young scientists. This work has the support of the Lineberger Comprehensive Cancer Center which has made accessible its core facilities. ..
  64. Biology of a Novel Phosphaturic Protein - sFRP-4
    Rajiv Kumar; Fiscal Year: 2007
    ..Our findings will have important implications with respect to Pi homeostasis, bone mineralization in mammals and humans, and the regulation of ion transport through Wnt signaling in the kidney. ..
  65. REGULATIOIN OF RENAL PHOSPHATE EXCRETION AND VITAMIN D METABOLISM BY FGF 7
    Rajiv Kumar; Fiscal Year: 2010
    ..The interaction between the FGF 7 and other PTNs will be clarified. Such information will significantly enhance our knowledge of mineralization processes and Pi homeostasis. ..
  66. MECHANISM OF HARD TISSUE MINERALIZATION
    Adele L Boskey; Fiscal Year: 2010
    ..Aim 3: To determine whether DSPP and BGN interact synergistically during the collagen-based in vitro mineralization process using in vitro and in situ analyses. ..
  67. EXPRESSION AND STRUCTURE OF THE CALCIUM SENSING RECEPTOR
    Rajiv Kumar; Fiscal Year: 2007
    ..Furthermore, this information will serve as the basis for more extensive experiments involving the structure of the full-length receptor. [unreadable] [unreadable]..
  68. Molecular Epidemiology of Endometrial Cancer
    Chu Chen; Fiscal Year: 2007
    ..Efforts will also be devoted to generating risk indices through statistical modeling that integrate potential effects of genetic variants in the estrogen metabolism pathway and/or DNA repair pathways. ..
  69. Micro-computed tomography system (Micro-CT)
    Adele Boskey; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  70. MINERALIZATION OF PRIMARY BONE
    JEFFREY GORSKI; Fiscal Year: 2008
    ..Results of this work should better define the differences between primariy and lamellar bone, as well as aid in the diagnosis and treatment of osteoporosis and atherosclerosis. ..