Gene: COL1A1

Alternate names for this Gene: CAFYD|EDSARTH1|EDSC|OI1|OI2|OI3|OI4

Gene Summary: This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.33

Description of this Gene: collagen type I alpha 1 chain

Type of Gene: protein-coding

rs3840870 in COL1A1 gene and Blood basophil count (lab test) PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.

rs2075555 in COL1A1 gene and Breast Carcinoma PMID 17903305 2007 The top SNP associations in GEE models for each trait were as follows: breast cancer, rs2075555, p = 8.0 x 10(-8) in COL1A1; and prostate cancer, rs9311171, p = 1.75 x 10(-6) in CTDSPL.

rs3840870 in COL1A1 gene and Corpuscular Hemoglobin Concentration Mean PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.

rs72653170 in COL1A1 gene and Cortical Congenital Hyperostosis PMID 15864348 2005 A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

rs1555575085 in COL1A1 gene and Dysmorphic features PMID 24964776 2014 Osteogenesis imperfecta: diagnosis and treatment.

PMID 23735642 2013 Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age.

PMID 24715559 2014 Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

PMID 28668235 2017 Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

PMID 24891183 2015 COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

PMID 23522764 2013 Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years?

PMID 9295084 1997 Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

PMID 6876111 1983 Heterogeneity of osteogenesis imperfecta type I.

PMID 24389367 2014 Caffey disease: new perspectives on old questions.

PMID 23047998 2012 Caffey disease in neonatal period: the importance of the family!

PMID 15864348 2005 A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

PMID 22570641 2011 Osteogenesis Imperfecta: A Review with Clinical Examples.

PMID 17078022 2007 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.

PMID 10073586 1999 Ehlers-Danlos syndrome type VII: clinical features and molecular defects.

PMID 22174522 2011 A rare variant of Caffey's disease - X-rays, bone scan and FDG PET findings.

PMID 13431894 1957 Infantile cortical hyperostosis; a review of the clinical and radiographic features.

PMID 10739762 2000 Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

PMID 21801164 2012 Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

PMID 20087402 2010 Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.

PMID 21344539 2011 COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

rs72645347 in COL1A1 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 10739762 2000 Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

PMID 17211858 2007 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.

rs3840870 in COL1A1 gene and Eosinophil count procedure PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.

rs1114167374 in COL1A1 gene and Lobstein Disease PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 21667357 2012 The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.

PMID 2295701 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.

PMID 7942841 1994 Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.

PMID 9295084 1997 Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

PMID 9443882 1998 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.

PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

PMID 9016532 1997 The human type I collagen mutation database.

PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

PMID 17078022 2007 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.

PMID 19344236 2009 Collagen structure and stability.

PMID 24147872 2014 Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients.

PMID 27509835 2016 DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.

PMID 22565191 2012 A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

PMID 2794057 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.

PMID 3403550 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.

PMID 18996919 2009 Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

PMID 25963598 2015 Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen.

PMID 27519266 2016 Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.

PMID 24668929 2014 Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

PMID 23529829 2013 Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1.

PMID 27132807 2016 Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.

PMID 25696019 2015 Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family.

PMID 22206639 2011 Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.

PMID 15024692 2004 High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta.

PMID 12590186 2003 COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta.

PMID 19358256 2009 Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta.

PMID 22753364 2012 Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta.

PMID 27510842 2017 Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.

PMID 8408653 1993 Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.

PMID 9067755 1997 Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent.

PMID 10931857 2000 Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain.

PMID 15931785 2005 [Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta].

PMID 24501682 2013 Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

PMID 7691343 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.

PMID 15741671 2005 Molecular findings in Brazilian patients with osteogenesis imperfecta.

PMID 19751715 2009 A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 8094076 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.

PMID 22589248 2012 Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.

PMID 1445258 1992 Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity.

PMID 8456809 1993 Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen.

PMID 26627451 2015 Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.

PMID 9101304 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.

PMID 21884818 2011 A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.

PMID 26177859 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 26712438 2016 Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family.

PMID 28116328 2017 Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.

PMID 15024745 2004 Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.

PMID 27748872 2016 Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.

PMID 27484908 2016 Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.

PMID 8613526 1996 Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.

PMID 23692737 2013 Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.

PMID 16638323 2006 [A new mutation in COL1A1 gene in a family with osteogenesis imperfecta].

PMID 1634225 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.

PMID 16705691 2006 Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.

PMID 24682174 2014 A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.

PMID 1737847 1992 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.

PMID 16786509 2006 Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

PMID 3244312 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.

PMID 1718984 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.

PMID 18670065 2008 Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.

PMID 17875077 2007 Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.

PMID 8223589 1993 Gly85 to Val substitution in pro alpha 1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.

PMID 10739762 2000 Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

PMID 17211858 2007 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.

PMID 28102596 2017 Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.

PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

PMID 25597651 2015 Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype.

PMID 8669434 1996 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.

PMID 2037280 1991 Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.

PMID 25086671 2014 Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer.

PMID 18670065 2008 One caused a substitution of glycine 200 by valine at the N-terminus of D1 in OI type I/IV, lowering collagen stability by 50% at 34 degrees C. The other one was a substitution of valine 349 by phenylalanine at the C-terminus of D1 in OI type I, lowering collagen stability at 37.5 degrees C. Two other mutations, reported before, changed amino residues in D4.

PMID 18311573 2008 Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations.

PMID 22570641 2011 Osteogenesis Imperfecta: A Review with Clinical Examples.

PMID 26604951 2015 Bulbous epiphysis and popcorn calcification as related to growth plate differentiation in osteogenesis imperfecta.

PMID 8808594 1996 Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains.

PMID 28810924 2017 Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.

PMID 28498836 2017 Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.

PMID 11317364 2001 Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.

PMID 28378289 2017 Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.

PMID 23054245 2012 Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.

PMID 7881420 1994 Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.

PMID 15241796 2004 Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients.

PMID 27044453 2016 Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients.

PMID 18553566 2008 Prenatal cortical hyperostosis with COL1A1 gene mutation.

PMID 18704262 2008 The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).

PMID 15864348 2005 A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

PMID 24390061 2014 Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

PMID 21249479 2011 COL1A1 mutation in an Indian child with Caffey disease.

PMID 18845533 2008 Recombinant collagen studies link the severe conformational changes induced by osteogenesis imperfecta mutations to the disruption of a set of interchain salt bridges.

PMID 21594610 2011 Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.

PMID 23079818 2012 The missense mutation c.3235G>A was identified within exon 45 of the COL1A1 gene in a 16-year-old girl diagnosed as having OI type I; it resulted in substitution of a glycine residue (G) by a serine (S) at codon 1079 (p.G1079S).

PMID 18670065 2008 One caused a substitution of glycine 200 by valine at the N-terminus of D1 in OI type I/IV, lowering collagen stability by 50% at 34 degrees C. The other one was a substitution of valine 349 by phenylalanine at the C-terminus of D1 in OI type I, lowering collagen stability at 37.5 degrees C. Two other mutations, reported before, changed amino residues in D4.

PMID 25436829 2015 Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study.

PMID 15728585 2005 Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.

PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PMID 18798308 2008 Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs2075555 in COL1A1 gene and Malignant neoplasm of breast PMID 17903305 2007 The top SNP associations in GEE models for each trait were as follows: breast cancer, rs2075555, p = 8.0 x 10(-8) in COL1A1; and prostate cancer, rs9311171, p = 1.75 x 10(-6) in CTDSPL.

rs3840870 in COL1A1 gene and Mean Corpuscular Volume (result) PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.

rs3840870 in COL1A1 gene and Monocyte count procedure PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.

rs3840870 in COL1A1 gene and Monocyte count result PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.

rs1555573789 in COL1A1 gene and Muscle hypotonia PMID 17078022 2007 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.

PMID 10739762 2000 Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

PMID 13431894 1957 Infantile cortical hyperostosis; a review of the clinical and radiographic features.

PMID 15864348 2005 A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

PMID 24964776 2014 Osteogenesis imperfecta: diagnosis and treatment.

PMID 6876111 1983 Heterogeneity of osteogenesis imperfecta type I.

PMID 28668235 2017 Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy.

PMID 10073586 1999 Ehlers-Danlos syndrome type VII: clinical features and molecular defects.

PMID 20087402 2010 Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.

PMID 23735642 2013 Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age.

PMID 24715559 2014 Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

PMID 24891183 2015 COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

PMID 22174522 2011 A rare variant of Caffey's disease - X-rays, bone scan and FDG PET findings.

PMID 22570641 2011 Osteogenesis Imperfecta: A Review with Clinical Examples.

PMID 9295084 1997 Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

PMID 23047998 2012 Caffey disease in neonatal period: the importance of the family!

PMID 24389367 2014 Caffey disease: new perspectives on old questions.

PMID 21801164 2012 Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

PMID 23522764 2013 Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years?

PMID 21344539 2011 COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

rs2075555 in COL1A1 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs3840870 in COL1A1 gene and Neutrophil count (procedure) PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.

rs193922139 in COL1A1 gene and Osteogenesis Imperfecta PMID 25963598 2015 Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen.

PMID 17078022 2007 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.

PMID 26712438 2016 Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family.

rs1114167388 in COL1A1 gene and Osteogenesis imperfecta type III (disorder) PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 2511192 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.

PMID 1770532 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.

PMID 18670065 2008 Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.

PMID 7691343 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.

PMID 2037280 1991 Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.

PMID 2794057 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.

PMID 7881420 1994 Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.

PMID 8456809 1993 Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen.

PMID 8019571 1994 Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.

PMID 10408781 1999 Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online.

PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PMID 8669434 1996 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.

PMID 8364588 1993 Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.

PMID 9101304 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.

PMID 8723681 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.

PMID 18670065 2008 The second mutation changed glycine 1040 to serine located at the border of D4 and D0.4, in a proband manifesting OI type III, and lowered collagen stability at 39 degrees C (2 degrees C lower than normal).

rs1114167402 in COL1A1 gene and Osteogenesis imperfecta type IV (disorder) PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 1988452 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.

PMID 17875077 2007 Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.

PMID 8094076 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.

PMID 2745420 1989 Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.

PMID 16786509 2006 Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

PMID 7691343 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.

PMID 16879195 2006 Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PMID 7982948 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.

PMID 1770532 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.

PMID 9600458 1998 Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.

PMID 8339541 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.

rs116794104 in COL1A1 gene and Osteogenesis imperfecta, dominant perinatal lethal PMID 7691343 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.

PMID 3403550 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.

PMID 8786074 1996 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.

PMID 8364588 1993 Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.

PMID 8100209 1993 SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.

PMID 3108247 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.

PMID 2211725 1990 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.

PMID 2037280 1991 Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.

PMID 1874719 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.

PMID 3667599 1987 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.

PMID 7520724 1994 Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.

PMID 25958000 2015 Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

PMID 2116413 1990 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 blocks.

PMID 3016737 1986 Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.

PMID 18996919 2009 Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

PMID 1613761 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.

PMID 1460047 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.

PMID 2339700 1990 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.

PMID 1939261 1991 A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.

PMID 2035536 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.

rs3840870 in COL1A1 gene and Platelet Count measurement PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.

rs3840870 in COL1A1 gene and Platelet mean volume determination (procedure) PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.

rs3840870 in COL1A1 gene and RDW - Red blood cell distribution width result PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.

rs3840870 in COL1A1 gene and Red Blood Cell Count measurement PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.

rs3840870 in COL1A1 gene and Red cell distribution width determination PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.

rs3840870 in COL1A1 gene and White Blood Cell Count procedure PMID 31080455 2019 Complimentary Methods for Multivariate Genome-Wide Association Study Identify New Susceptibility Genes for Blood Cell Traits.