COL1A1 Gene

Aliases &
Descriptions
for COL1A1

Previous GC identifers: GC17M047864 GC17M050742 GC17M048602 GC17M048736

Summaries
for COL1A1

Gene Wiki entry for COL1A1 (Collagen%2C_type_I%2C_alpha_1)

Genomic Location
for COL1A1

Proteins
for COL1A1

PDB structure from and Proteopedia :

1Q7D (3D)    3EJH (3D)    

Post-translational modifications:

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant COL1A1 Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Procollagen Type 1, Collagen I + Collagen III, PICP, Collagen I, Collagen I + II + III, Collagen I + II + III + IV + V)
	Human Recombinant Proteins from Abnova (COL1A1)

4 Gene Ontology (GO) cellular component terms (links to tree view):

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of COL1A1
	Sigma-Aldrich Antibodies for COL1A1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Procollagen Type 1, Collagen I + Collagen III, PICP, Collagen I, Collagen I + II + III, Collagen I + II + III + IV + V), each with their AbpromiseSM
	Monoclonal and Polyclonal Antibodies from Abnova (COL1A1)
	Novus Biologicals Antibodies for COL1A1

	Browse Invitrogen for biochemical assays
	Millipore Kits and Assays for the Analysis of COL1A1
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

Protein Domains/
Families
for COL1A1

3 InterPro domains/families:

IPR000885 Fib_collagen_C  IPR001007 VWF_C  IPR008160 Collagen    GeneDecks  COL1A1 for the domains selected above   About GeneDecksing

Graphical View of Domain Structure for InterPro Entry P02452

ProtoNet protein and cluster: P02452

Gene Function
for COL1A1

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (COL1A1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

15/25 MGI mutant phenotypes (inferred from 12 alleles) (MGI details for Col1a1) (see all 25 ):

2 Gene Ontology (GO) molecular function terms (links to tree view):

Pathways & Interactions
for COL1A1

2 Invitrogen iPath™ Online BioAtlas - Pathways for COL1A1 (Maps provided by GeneGo):

Hedgehog and PTH signaling pathways participation in bone and cartilage development  Role of VDR in regulation of genes involved in osteoporosis    GeneDecks  COL1A1 for the pathways selected above   About GeneDecksing

5/9 Millipore Pathways for COL1A1 (see all 9 )

Development Hedgehog and PTH signaling pathways in bone and cartilage development  Cell adhesion Integrin-mediated cell adhesion and migration  Cytoskeleton remodeling Integrin outside-in signaling  Transcription Role of VDR in regulation of genes involved in osteoporosis  Cell adhesion ECM remodeling    GeneDecks  COL1A1 for the pathways selected above   About GeneDecksing

3 Sigma-Aldrich "Your Favorite Gene" Pathways for  COL1A1  (Your Favorite Gene powered by Ingenuity)

Dendritic Cell Maturation  Hepatic Fibrosis / Hepatic Stellate Cell Activation  IL-6 Signaling    GeneDecks  COL1A1 for the pathways selected above   About GeneDecksing

2 Kegg Pathways  (Kegg details for COL1A1):

hsa04510 Focal adhesion  hsa04512 ECM-receptor interaction    GeneDecks  COL1A1 for the pathways selected above   About GeneDecksing

5/16 Gene Ontology (GO) biological process terms (links to tree view) (see all 16 ):

Drugs & Compounds
for COL1A1

Transcripts
for COL1A1

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (COL1A1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

Applied Biosystems Silencer® siRNAs: 

REFSEQ mRNAs for COL1A1 gene: 

Applied Biosystems TaqMan ® Gene Expression Assays: 

Expression
for COL1A1

COL1A1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for COL1A1

¹ / ² / ³

11 probe-sets matching COL1A1 gene

	Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
			# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
	35473_at2, 3	U95-A	1	1.00	1.00	0.26	0.95	Y15919	0.20	1.00	0.72	1
	35474_s_at2, 3	U95-A	3	1.00	0.94	0.88	1.07	Y15915	0.40	1.00	0.76	1
	202310_s_at2, 3	U133-A	1	1.00	1.00	--	--	K01228	0.60	1.00	0.82	1
	202312_s_at2, 3	U133-A	1	1.00	1.00	--	--	NM_000088	0.60	1.00	0.82	1
	202311_s_at2, 3	U133-A	1	1.00	1.00	--	--	AI743621	0.40	1.00	0.76	1
	217430_x_at2	U133-A	3	0.82	0.85	--	--	--	--	--	--	--
	1556499_s_at2	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
	202310_s_at2	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
	202312_s_at2	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
	202311_s_at2	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
	217430_x_at2	U133Plus2	3	0.82	0.85	--	--	--	--	--	--	--

GeneDecks  COL1A1 for binary patterns associated with the probe-sets selected above   About GeneDecksing

About this table    

GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene clusters: Hs.172928 Hs.681002

Expression variation in blood from EXPOLDB for COL1A1

UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452

Tissue specificity: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are

mineralized with calcium hydroxyapatite

Orthologs
for COL1A1

Paralogs
for COL1A1

Paralogs for COL1A1 gene

COL2A1²  COL5A2²  

SNPs/Variants
for COL1A1

Disorders & Mutations
for COL1A1

UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452

Medical News
for COL1A1

Publications
for COL1A1

• Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. (PubMed id 8841196)^{1, 3, 4, 6} Grant S.F.A.... Ralston S.H. (1996)
• Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen. (PubMed id 3178743)^{2, 3, 4} Tromp G.... Prockup D.J. (1988)
• Fine structural analysis of the human pro-alpha 1 (I) collagen gene. Promoter structure, AluI repeats, and polymorphic transcripts. (PubMed id 2857713)^{2, 3, 4} Chu M.L....Ramirez F. (1985)
• Association between bone mineral density and polymorphisms of the VDR, ERalpha, COL1A1 and CTR genes in Spanish postmenopausal women. (PubMed id 15966503)^{1, 3, 6} Bandres E....Garcia-Foncillas J. (2005)
• Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. (PubMed id 15241796)^{1, 3, 6} Hartikka H....Ala-Kokko L. (2004)
• Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits. (PubMed id 15994869)^{1, 3, 6} Tilkeridis C....Stratakis C.A. (2005)
• Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. (PubMed id 15211650)^{1, 3, 6} Rodriguez L....Zapata C. (2004)
• [Association analysis on the polymorphisms of PCOL2 and Sp1 binding sites of COL1A1 gene and the congenital dislocation of the hip in Chinese population] (PubMed id 15952128)^{1, 3, 6} Jiang J....Ji S.J. (2005)
• 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 mutations. (PubMed id 9443882)^{1, 3, 4} Korkko J.M....Prockop D.J. (1998)
• Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: evidence for a shared genetic etiology with osteoporosis. (PubMed id 15241219)^{1, 3, 6} McKenna M.J....Kristiansen A.G. (2004)
• Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. (PubMed id 8364588)^{1, 3, 4} Mottes M.... Pignatti P.F. (1993)
• Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. (PubMed id 2037280)^{1, 3, 4} Pruchno C.J.... Byers P.H. (1991)
• Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. (PubMed id 10627137)^{1, 3, 4} Mottes M.... Freising P. (1998)
• Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chain. (PubMed id 7679635)^{1, 3, 4} Valli M.... Cetta G. (1993)
• 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. (PubMed id 8349697)^{1, 3, 4} Chessler S.D.... Byers P.H. (1993)
• Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion. (PubMed id 8223589)^{1, 3, 4} Valli M.... Cetta G. (1993)
• A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta. (PubMed id 1511982)^{1, 3, 4} Bonaventure J.... Maroteaux P. (1992)
• A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta. (PubMed id 1939261)^{1, 3, 4} Hawkins J.R.... Dalgleish R. (1991)
• A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR. (PubMed id 2035536)^{1, 3, 4} Zhuang J.... Prockop D.J. (1991)
• Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent. (PubMed id 2339700)^{1, 3, 4} Wallis G.A.... Byers P.H. (1990)
• 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. (PubMed id 2295701)^{1, 3, 4} Willing M.C.... Byers P.H. (1990)
• Osteogenesis imperfecta: mosaicism and refinement of the genotype- phenotype map in OI type III. (PubMed id 10408781)^{3, 4} Lund A.M.... Skovby F. (1999)
• Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. (PubMed id 9600458)^{3, 4} Sarafova A.P.... Marini J.C. (1998)
• (G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta? (PubMed id 9143923)^{3, 4} Lund A.M.... Schwartz M. (1997)
• 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. (PubMed id 9101304)^{3, 4} Lund A.M.... Schwartz M. (1997)
• Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation. (PubMed id 8669434)^{3, 4} Zhuang J.... Prockop D.J. (1996)
• Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding. (PubMed id 8723681)^{3, 4} Oliver J.E.... Nicholls A.C. (1996)
• Osteogenesis imperfecta: comparison of molecular defects with bone histological changes. (PubMed id 7520724)^{3, 4} Sztrolovics R....Roughley P.J. (1994)
• Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N- proteinase. (PubMed id 7982948)^{3, 4} Lightfoot S.J.... Kadler K.E. (1994)
• Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta. (PubMed id 7961597)^{3, 4} Kurosaka D.... Nagai Y. (1994)
• Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. (PubMed id 7881420)^{3, 4} Forlino A.... Mottes M. (1994)
• Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III. (PubMed id 8019571)^{3, 4} Mackay K.... Dalgleish R. (1994)
• Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. (PubMed id 8456809)^{3, 4} Marini J.C.... Chen K.J. (1993)
• Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta. (PubMed id 8456808)^{3, 4} Bateman J.F....Cole W.G. (1993)
• SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. (PubMed id 8100209)^{3, 4} Mackay K.... Dalgleish R. (1993)
• Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology. (PubMed id 8094076)^{3, 4} Marini J.C.... Orrison B.M. (1993)
• BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta. (PubMed id 8349698)^{3, 4} Chessler S.D. and Byers P.H. (1993)
• A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta. (PubMed id 8339541)^{3, 4} Wirtz M.K.... Hollister D.W. (1993)
• 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. (PubMed id 7691343)^{3, 4} Mackay K.... Dalgleish R. (1993)
• An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen. (PubMed id 1737847)^{3, 4} Shapiro J.R.... Rowe D.W. (1992)
• A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase. (PubMed id 1460047)^{3, 4} Wallis G.A.... Byers P.H. (1992)
• The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen. (PubMed id 1613761)^{3, 4} Cole W.G.... Fortune D.W. (1992)
• Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene. (PubMed id 1634225)^{3, 4} Mottes M.... Cetta G. (1992)
• Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution. (PubMed id 1953667)^{3, 4} Steinmann B....Prockop D.J. (1991)
• Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta. (PubMed id 1770532)^{3, 4} Nicholls A.C.... Pope F.M. (1991)
• Osteogenesis imperfecta: translation of mutation to phenotype. (PubMed id 1895312)^{3, 4} Byers P.H.... Willing M.C. (1991)
• The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen. (PubMed id 1718984)^{3, 4} Deak S.B.... MacKenzie J.W. (1991)
• A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain. (PubMed id 1988452)^{3, 4} Valli M.... Pignatti P.F. (1991)
• Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix. (PubMed id 1874719)^{3, 4} Tsuneyoshi T.... Prockop D.J. (1991)
• Substitution of arginine for glycine at position 847 in the triple- helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion. (PubMed id 2211725)^{3, 4} Wallis G.A.... Byers P.H. (1990)
• A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen. (PubMed id 2913053)^{3, 4} Constantinou C.D.... Prockop D.J. (1989)
• Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype. (PubMed id 2794057)^{3, 4} Starman B.J.... Byers P.H. (1989)
• RNA sequence analysis of a perinatal lethal osteogenesis imperfecta mutation. (PubMed id 2470760)^{3, 4} Patterson E.... Bonadio J. (1989)
• Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific. (PubMed id 2511192)^{3, 4} Pack M.... Prockop D.J. (1989)
• Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta. (PubMed id 2777764)^{3, 4} Lamande S.R.... Bateman J.F. (1989)
• Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. (PubMed id 2745420)^{3, 4} Marini J.C.... Koeplin D.A. (1989)
• Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta. (PubMed id 3170557)^{3, 4} Cohn D.H.... Byers P.H. (1988)
• 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. (PubMed id 3403550)^{3, 4} Bateman J.F.... Cole W.G. (1988)
• A cysteine for glycine substitution at position 1017 in an alpha 1(I) chain of type I collagen in a patient with mild dominantly inherited osteogenesis imperfecta. (PubMed id 3244312)^{3, 4} Labhard M.E.... Hollister D.W. (1988)
• A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta. (PubMed id 3667599)^{3, 4} Vogel B.E.... Prockop D.J. (1987)
• Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen. (PubMed id 3108247)^{3, 4} Bateman J.F.... Cole W.G. (1987)
• Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. (PubMed id 3016737)^{3, 4} Cohn D.H.... Gelinas R.E. (1986)
• Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA. (PubMed id 2981843)^{3, 4} Chu M.-L.... Ramirez F. (1985)
• Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta. (PubMed id 3857621)^{3, 4} Barsh G.S.... Gelinas R.E. (1985)
• Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. (PubMed id 18996919)^{1, 3} Bodian D.L....Klein T.E. (2009)
• Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients. (PubMed id 17875077)^{1, 3} Kataoka K....Tanaka H. (2007)
• Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. (PubMed id 16705691)^{1, 3} Lee K.S....Koo S.K. (2006)
• [Molecular diagnosis of osteogenesis imperfecta type I] (PubMed id 19145934)^{1, 3} Galicka A....SredziA8ska K. (2008)
• A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family. (PubMed id 17392686)^{1, 3} Liu W....Ma X. (2007)
• Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta. (PubMed id 9752968)^{1, 6} McKenna M.J....Haines J.L. (1998)
• Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix. (PubMed id 18670065)^{1, 3} Witecka J....Sieron A.L. (2008)
• Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta. (PubMed id 18375391)^{1, 3} Pace J.M....Byers P.H. (2008)
• Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation. (PubMed id 16272059)^{1, 3} Nwosu B.U....Stratakis C.A. (2005)
• [Osteogenesis imperfecta Type 1: a case presentation with a new mutation in gene COL1A1] (PubMed id 15106082)^{1, 3} Siegert T....Schmidt H. (2004)
• COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta. (PubMed id 12590186)^{1, 3} Benusiene E. and Kucinskas V. (2003)
• 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. (PubMed id 11668615)^{1, 3} Pace J.M....Byers P.H. (2001)
• Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta. (PubMed id 8097422)^{1, 3} Cohn D.H.... Byers P.H. (1993)
• Bone turnover and type I collagen C-telopeptide isomerization in adult osteogenesis imperfecta: associations with collagen gene mutations. (PubMed id 19071236)³ Garnero P....Chevrel G. (2009)
• Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. (PubMed id 18311573)³ Roschger P....Rauch F. (2008)
• A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype. (PubMed id 18028452)³ Lund A....Schwartz M. (2008)
• Predicting the clinical lethality of osteogenesis imperfecta from collagen glycine mutations. (PubMed id 18412368)³ Bodian D.L....Klein T.E. (2008)
• Vitronectin and collagen I differentially regulate osteogenesis in mesenchymal stem cells. (PubMed id 16815299)³ Kundu A.K. and Putnam A.J. (2006)
• 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. (PubMed id 16407265)³ Makareeva E....Leikin S. (2006)
• Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. (PubMed id 15728585)³ Cabral W.A....Marini J.C. (2005)
• Gene targeting in stem cells from individuals with osteogenesis imperfecta. (PubMed id 14976317)³ Chamberlain J.R....Russell D.W. (2004)
• Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta. (PubMed id 11432962)³ Pace J.M....Byers P.H. (2001)
• Three novel polymorphic sequence variants in the type I collagen gene COL1A1, the main disease locus for Osteogenesis Imperfecta. (PubMed id 11090261)³ Mirandola S....Mottes M. (2000)
• The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains. (PubMed id 3722186)³ de Vries W.N. and de Wet W.J. (1986)
• Similar COL1A1 expression in fibroblasts from some patients with clinical otosclerosis and those with type I osteogenesis imperfecta. (PubMed id 11860074)¹ McKenna M.J....Tropitzsch A.S. (2002)
• A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family. (PubMed id 18755172)¹ Xia X.Y....Zhou Y.C. (2008)
• A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I. (PubMed id 9503369)¹ Nuytinck L....De Paepe A. (1998)
• Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. (PubMed id 1353940)¹ Willing M.C....Byers P.H. (1992)
• Strategy for prenatal diagnosis of osteogenesis imperfecta by linkage analysis to the type I collagen loci COL1A1 and COL1A2. (PubMed id 11208313)¹ Benuslene E. and Kucinskas V. (2000)
• Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing. (PubMed id 10521849)¹ Nuytinck L....De Paepe A. (1999)
• Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I. (PubMed id 8544188)¹ Willing M.C....Deschenes S.P. (1995)
• Molecular heterogeneity in osteogenesis imperfecta type I. (PubMed id 8456806)¹ Willing M.C....Byers P.H. (1993)
• Correction of a mineralization defect by overexpression of a wild-type cDNA for COL1A1 in marrow stromal cells (MSCs) from a patient with osteogenesis imperfecta: a strategy for rescuing mutations that produce dominant-negative protein defects. (PubMed id 15815702)¹ Pochampally R.R....Prockop D.J. (2005)
• Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain. (PubMed id 10931857)¹ Johnson C....Lawrence J.B. (2000)
• Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta. (PubMed id 11147834)¹ Campbell B.G....Minor R.R. (2000)
• Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. (PubMed id 1967900)¹ Sykes B....Tsipouras P. (1990)

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