Condition: Lobstein Disease


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.

rs1114167416 in COL1A2 gene and Lobstein Disease PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 19344236 2009 Collagen structure and stability.

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

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 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 6092353 1984 Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

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

PMID 2993307 1985 A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.

PMID 3372533 1988 Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.

PMID 16816023 2006 Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

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

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

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

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

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

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

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

PMID 7860070 1995 A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.

PMID 9272740 1997 Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.

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

PMID 26371943 2018 Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations.

PMID 26432670 2015 Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

PMID 11359465 2001 Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta.

PMID 1990009 1991 The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix.

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

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

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

PMID 26138843 2015 Genetics of Osteoporosis in Children.

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

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

PMID 21667357 2012 The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients 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 27519266 2016 Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.

PMID 8829649 1996 Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.

PMID 11288717 2001 Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype.

PMID 15077201 2004 Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

PMID 24342908 2014 Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience.

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

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

PMID 23934635 2014 A rare case of osteogenesis imperfecta combined with complete tooth loss.

PMID 26471105 2016 Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.

PMID 8456807 1993 Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta.

PMID 9099837 1997 Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.

PMID 29595812 2018 Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.

PMID 15241796 2004 Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in 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 25450603 2015 Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.