COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of SKIN; CONNECTIVE TISSUE; and the organic substance of bones (BONE AND BONES) and teeth (TOOTH).
The most common form of fibrillar collagen. It is a major constituent of bone (BONE AND BONES) and SKIN and consists of a heterotrimer of two alpha1(I) and one alpha2(I) chains.
The process of bone formation. Histogenesis of bone including ossification.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Tissue that supports and binds other tissues. It consists of CONNECTIVE TISSUE CELLS embedded in a large amount of EXTRACELLULAR MATRIX.
Genes that influence the PHENOTYPE only in the homozygous state.
A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter.
Bone lengthening by gradual mechanical distraction. An external fixation device produces the distraction across the bone plate. The technique was originally applied to long bones but in recent years the method has been adapted for use with mandibular implants in maxillofacial surgery.
Cell surface receptors that bind GLYCINE with high affinity and trigger intracellular changes which influence the behavior of cells. Glycine receptors in the CENTRAL NERVOUS SYSTEM have an intrinsic chloride channel and are usually inhibitory.
A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.
The branch of science concerned with the means and consequences of transmission and generation of the components of biological inheritance. (Stedman, 26th ed)
The clear, viscous fluid secreted by the SALIVARY GLANDS and mucous glands of the mouth. It contains MUCINS, water, organic salts, and ptylin.
A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
A subspecialty of internal medicine concerned with the metabolism, physiology, and disorders of the ENDOCRINE SYSTEM.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
Fibrous proteins secreted by INSECTS and SPIDERS. Generally, the term refers to silkworm fibroin secreted by the silk gland cells of SILKWORMS, Bombyx mori. Spider fibroins are called spidroins or dragline silk fibroins.
A continuous protein fiber consisting primarily of FIBROINS. It is synthesized by a variety of INSECTS and ARACHNIDS.
Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
ACAN Osteogenesis imperfecta, type I; 166200; COL1A1 Osteogenesis imperfecta, type II; 166210; COL1A2 Osteogenesis imperfecta, ... COL1A1 OI type III; 259420; COL1A1 OI type IV; 166220; COL1A1 Oligodontia-colorectal cancer syndrome; 608615; AXIN2 Omenn ... COL1A2 Osteogenesis imperfecta, type IV; 166220; COL1A2 Osteogenesis imperfecta, type IX; 259440; PPIB Osteogenesis imperfecta ... type VI; 610698; FKBP10 Osteogenesis imperfecta, type VII; 610682; CRTAP Osteogenesis imperfecta, type VIII; 610915; LEPRE1 ...
Steiner, R. D., & Basel, D. (December 12, 2019). "COL1A1/2 Osteogenesis Imperfecta" (PDF). GeneReviews: 1-29. Retrieved ... osteogenesis imperfecta, trauma, radiation myelopathy, vitamin B12 deficiency (subacute combined degeneration), compression of ...
COL1A1/2-related osteogenesis Imperfecta is inherited in an autosomal dominant manner. The proportion of cases caused by a De ... Accordingly, COL1A1/2-related osteogenesis Imperfecta has been classified into four sub-types (I, II, III, and IV) built upon ... COL1A1/2-related osteogenesis Imperfecta is identified by repeated fractures with trivial trauma, defective dentinogenesis ... The clinical features of COL1A1/2-related osteogenesis Imperfecta can be highly variable ranging from severe and lethal ...
The mutation in collagen type 1 (COL1 A1, COL1 A2) causes DI-1. It is similar to the systemic condition dental features known ... Dentinogenesis imperfecta Odontodysplasia Calcinosis Osteogenesis imperfecta Ehlers-Danlos syndromes Goldblatt syndrome Schimke ... as osteogenesis imperfect. DI-2, DI-3 and DD-2 share the same genetic mutation of dentin sialophosphoprotein, that is located ...
Osteogenesis imperfecta, type II: Many different types of mutations in the COL1A1 gene can cause osteogenesis imperfecta type ... Osteogenesis imperfecta, type IV: Several different types of mutations in the COL1A1 gene cause osteogenesis imperfecta type IV ... type II osteogenesis imperfecta. Osteogenesis imperfecta, type III: Mutations in the COL1A1 gene may result in the production ... Mutations that inactivate one of the two copies of the COL1A1 gene cause osteogenesis imperfecta type I. The mutated copy of ...
The most direct example of the role of Sp7 in human disease has been in recessive osteogenesis imperfecta(OI), which is a type- ... Once Sp7 expression is triggered it then induces the expression of a slew of mature osteoblast genes such as Col1a1, ... In addition there is significant genetic evidence for its role in diseases such as Osteogenesis imperfecta (OI). In humans Sp7 ... Generally this disease is caused by mutations in Col1a1 or Col1a2 which are regulators of collagen growth. OI-causing mutations ...
Steiner RD, Pepin MG, Byers PH, Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (January 28, 2005). "COL1A1/2 Osteogenesis ... In order to determine whether osteogenesis imperfecta is present, genetic sequencing of the COL1A1, COL1A2, and IFITM5 genes ... GeneReview/NCBI/NIH/UW entry on Osteogenesis Imperfecta synd/1743 at Who Named It? Osteogenesis Imperfecta Overview NIH ... An older system deemed less severe types "osteogenesis imperfecta tarda" while more severe forms were deemed "osteogenesis ...
Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis ... COL1A1 (англ. Collagen type I alpha 1 chain) - білок, який кодується однойменним геном, розташованим у людей на короткому плечі ... COL1A1, EDSC, OI1, OI2, OI3, OI4, collagen type I alpha 1, collagen type I alpha 1 chain, EDSARTH1. ... Отримано з https://uk.wikipedia.org/w/index.php?title=COL1A1&oldid=21030357 ...
COL1A1, COL1A2. Osteogenesis imperfecta, Ehlers-Danlos syndrome, Infantile cortical hyperostosis a.k.a. Caffey's disease ... Osteogenesis imperfecta - Caused by a mutation in type 1 collagen, dominant autosomal disorder, results in weak bones and ... "Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans" (PDF). Acta biochimica Polonica. 49 (2): ...
Solute carrier family 4, member 1 (17q21.31) CBX1: chromobox homolog 1 (17q21.32) COL1A1: collagen, type I, alpha 1 (17q21.33) ... syndrome Multiple synostoses syndrome Neurofibromatosis type I Nonsyndromic deafness Obsessive-compulsive disorder Osteogenesis ...
COL1A1: collagen, type I, alpha 1 (17q21.33). *LUC7L3: LUC7 like 3 pre-mRNA splicing factor (17q21.33) ... Osteogenesis imperfecta. *Potocki-Lupski syndrome. *Proximal symphalangism. *Smith-Magenis syndrome. *Usher syndrome ...
Disorders such as Ehlers Danlos Syndrome, osteogenesis imperfecta, and epidermolysis bullosa are linked with genetic defects in ...
COL1A1/2 pathogenic variants were harbored by 60 patients (63.83%). 27 pathogenic variants are described herein for the first ... COL1A1/2 pathogenic variants were harbored by 60 patients (63.83%). 27 pathogenic variants are described herein for the first ... Although up to 90% of patients harbor pathogenic variants in the COL1A1/2 gene, which codes for collagen α1/2 chains, the ... Although up to 90% of patients harbor pathogenic variants in the COL1A1/2 gene, which codes for collagen α1/2 chains, the ...
Structural Models of Osteogenesis Imperfecta-associated Variants in the COL1A1 Gene Message Subject (Your Name) has sent you a ... Structural Models of Osteogenesis Imperfecta-associated Variants in the COL1A1 Gene. Sean D. Mooney and Teri E. Klein ... Type I collagen is a heterotrimer formed by the products of two genes: COL1A1 and COL1A2. The COL1A1 gene located on the long ... OI, osteogenesis imperfecta clinical phenotype. r.m.s.d., average r.m.s.d. of wild type peptides (standard deviation). r.m.s.d ...
Next-generation sequencing demonstrated that the family had compound heterozygous mutations in COL1A1 and COL1A2, with no known ... Next-generation sequencing demonstrated that the family had compound heterozygous mutations in COL1A1 and COL1A2, with no known ... Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, characterized by reduced bone content, fractures and ... Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, characterized by reduced bone content, fractures and ...
... Sofie ... Mutations in the type I collagen genes (COL1A1 and COL1A2) mainly cause osteogenesis imperfecta (OI). We describe a patient ... "Tissue-specific Mosaicism for a Lethal Osteogenesis Imperfecta COL1A1 Mutation Causes Mild OI/EDS Overlap Syndrome." American ... "Tissue-specific Mosaicism for a Lethal Osteogenesis Imperfecta COL1A1 Mutation Causes Mild OI/EDS Overlap Syndrome." AMERICAN ...
Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta ... Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta. ... Osteogenesis imperfecta or "brittle bone disease" is a congenital disorder of connective tissue causing the bone to break ... Osteogenesis imperfecta or "brittle bone disease" is a congenital disorder of connective tissue causing the bone to break ...
Filename: Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta..pdf ... 5 more authors) (2013) Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis ... Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta. ... Sequencing of her genomic DNA revealed that she was heterozygous for the c.3880_3883dup mutation in exon 50 of the COL1A1 gene ...
MalaCards integrated aliases for Col1a1/2 Osteogenesis Imperfecta:. Name: Col1a1/2 Osteogenesis Imperfecta 24 ... An important gene associated with Col1a1/2 Osteogenesis Imperfecta is COL1A1 (Collagen Type I Alpha 1 Chain), and among its ... Col1a1/2 Osteogenesis Imperfecta, also known as brittle bone disease, is related to high bone mass osteogenesis imperfecta and ... MalaCards organs/tissues related to Col1a1/2 Osteogenesis Imperfecta:. 40 Bone, Heart, Bone Marrow, Testes ...
The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Learn about this gene and ... Osteogenesis imperfecta. Osteogenesis imperfecta is the most common disorder caused by mutations in the COL1A1 gene. People ... Hundreds of COL1A1 gene mutations that cause osteogenesis imperfecta have been identified. Most of the mutations that are ... Several kinds of mutations in the COL1A1 gene cause the more severe forms of osteogenesis imperfecta, including types II, III, ...
Osteogenesis imperfecta (OI) type I is the mildest form of heritable bone fragility resulting from mutations within the COL1 A1 ... Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. Journal ... Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. / Stover ... title = "Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta ...
Copy number variation (CNV) analysis of the Osteogenesis imperfecta genes is also offered as a panel. Additionally, CTGT offers ... Connective Tissue Gene Tests offers five panel options for Osteogenesis Imperfecta (OI) testing utilizing NextGen sequencing ... Connective Tissue Gene Tests offers five panel options for Osteogenesis Imperfecta (OI) testing utilizing NextGen sequencing ... technology, an OI COL1A1 & COL1A2 panel, an OI core panel, a dominant OI panel, a recessive OI panel and a combined dominant ...
Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta ... Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta ... Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta ... All forms of OI are the result of mutations in COL1A1 or COL1A2, the genes that encode the proalpha1(I) and proalpha2(I) chains ...
On the other hand, Sillence OI type I segregated with both COL1A1 (17 pedigrees) and COL1A2 (7 pedigrees). The concordant locus ... was analyzed in 38 dominant osteogenesis imperfecta (OI) pedigrees by using polymorphic markers within or close to the genes. ... with 13 of the 17 COL1A1 segregants and none of the 7 COL1A2 segregants showing this feature. ... The segregation of COL1A1 and COL1A2, the two genes which encode the chains of type I collagen, ...
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.. Zhytnik L1, Maasalu K2,3, ... Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which ... a Mutational spectrum of COL1A1/2 mutations in Estonian OI patients. Distribution of the COL1A1 (b) and COL1A2 (c) mutations ... Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients ...
COL1A1 haploinsufficiency mutations lead to the mildest form of osteogenesis imperfecta (OI), OI type I. The skeletal clinical ... Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1.. Ben Amor IM1, ... In this study we assessed 86 patients (36 male, 50 female; mean age 13.3 years; range, 0.6 to 54 years) with COL1A1 ... In summary, OI patients with COL1A1 haploinsufficiency mutations have high rates of significant skeletal involvement. ...
Null COL1A1 allele. 166200. autosomal dominant, 60% de novo[32] II. severe and usually lethal in the perinatal period. COL1A1, ... COL1A1, COL1A2. 259420. autosomal dominant, ~100% de novo[32] IV. deforming, but with normal sclerae most of the time. COL1A1, ... In order to determine whether osteogenesis imperfecta is present, genetic sequencing of the COL1A1, COL1A2, and IFITM5 genes ... Shapiro, Jay R. (2014), "Clinical and Genetic Classification of Osteogenesis Imperfecta and Epidemiology", Osteogenesis ...
Osteogenesis Imperfecta-Serine Replacing Glycine in the COL1A1 Gene-A New Establishment in Genetics. PubMed, SCI, Scopus, ESCI ... Osteogenesis Imperfecta-Serine Replacing Glycine in the COL1A1 Gene-A New Establishment in Genetics. Author(s): Usman Tauseef, ... Osteogenesis Imperfecta (OI) is a genetic disorder of bone fragility. In most cases, genetic testing is not usually done either ... In our study, we looked for a rare gene variant in a patient with Osteogenesis Imperfecta type 1. Our patient who was a 6-month ...
Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which ... Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients ... 2017) Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. Human Genomics, 11 (1). ... We identified COL1A1/2 mutations in 86.67% of patients (26/30). 76.92% of discovered mutations were located in the COL1A1 (n = ...
Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1 *Masaki Takagi ... Rights & permissionsfor article Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region ...
Genomic testing for Osteogenesis Imperfecta (OI) types I, II, III & IV COL1A1 & COL1A2 genes NGS panel. ... Osteogenesis Imperfecta is classified into four types (I, II, III, and IV) based on clinical and radiological findings. This ... Osteogenesis Imperfecta (OI) is characterized by bone fractures with minimal or no trauma, dentinogenesis imperfecta (DI) and ... Diagnosis is based on radiographic findings and also on genetic testing of the COL1A1 & COL1A2 genes, two relatively large in ...
COL1A1 and COL1A2. These types encompass the full spectrum of OI severity, from perinatal lethal type II to progressively ... Osteogenesis imperfecta (OI, or Brittle Bone Disease) is a clinically and genetically heterogeneous group of heritable ... Review COL1A1/2 Osteogenesis Imperfecta[GeneReviews®. 1993]. Review COL1A1/2 Osteogenesis Imperfecta. Steiner RD, Basel D. ... Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. Am J Hum Genet. 1992;51(3):508-15. [ ...
COL1A1. 17q21. ​.33. Collagen alpha-1(I) chain. Osteogenesis Imperfecta Mutation Database - COL1A1. COL1A1. COL1A1. ... Review COL1A1/2-Related Osteogenesis Imperfecta[GeneReviews®. 1993]. Review COL1A1/2-Related Osteogenesis Imperfecta. Steiner ... Gene. COL1A1 is the only gene in which a pathogenic variant is known to cause Caffey disease. The COL1A1 c.3040C,T (p. ... Within the range of COL1A1 pathogenic variants responsible for different phenotypes, the COL1A1 c.3040C,T variant is the ...
COL1A1, COL1A2 - Osteogenesis imperfecta. *. COL2A1 - Achondrogenesis 2, hypochondrogenesis, SED congenita, SEMD, Kniest, ... Osteogenesis imperfecta and decreased bone density group. This includes the following conditions:. * Osteogenesis imperfecta ( ... Dysplasias with decreased bone density: Mutations in the procollagen I genes (COL1A1, COL1A2) cause various types of ... Osteogenesis imperfecta. Major complications include bone fractures, bone deformity, and growth deficiency. ...
Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta. in Endocrinology ... PyottSMPepinMGSchwarzeUYangKSmithGByersPH 2011 Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the ... PyottSMPepinMGSchwarzeUYangKSmithGByersPH 2011 Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the ... SillenceDOSennADanksDM 1979 Genetic heterogeneity in osteogenesis imperfecta. Journal of Medical Genetics 16 101-116. (doi: ...
[email protected]#Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene ... Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new ... Full text: Available Index: WPRIM (Western Pacific) Main subject: Osteogenesis Imperfecta / Pathology / Female / Humans / Male ... The COL1A1 mutation spectrum was identified by next generation sequencing and confirmed by Sanger sequencing. A new clinical ...
Pyott SM, Pepin MG, Schwarze U, Yang K, Smith G & Byers PH 2011 Recurrence of perinatal lethal osteogenesis imperfecta in ... Pyott SM, Pepin MG, Schwarze U, Yang K, Smith G & Byers PH 2011 Recurrence of perinatal lethal osteogenesis imperfecta in ... Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta. in Endocrinology ... Sillence DO, Senn A & Danks DM 1979 Genetic heterogeneity in osteogenesis imperfecta. Journal of Medical Genetics 16 101-116. ( ...
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Explore symptoms, inheritance, ... Osteogenesis imperfecta can be caused by mutations in one of several genes. Mutations in the COL1A1 and COL1A2 genes cause ... Osteogenesis imperfecta type I is caused by mutations in the COL1A1 gene or, less commonly, the COL1A2 gene. These genetic ... When caused by mutations in the COL1A1 or COL1A2 gene, osteogenesis imperfecta has an autosomal dominant pattern of inheritance ...
COL1A1 , COL1A2. osteogenesis imperfecta, Ehlers-Danlos_Syndrome. II. Found in articular cartilage and hyaline cartilage; makes ...
COL1A1/2 ratio. 2:1. Osteogenesis Imperfecta. Molecular testing COL1A/2 detects 90% of OI types 1-4 (AD, ,95% seq changes and 2 ... Osteogenesis imperfecta. dx: FHx (fx/signs), X rays (fx, wormian, codfish vertebrae and oseopenia); COL1A1/2 molecular test and ... Osteogenesis Imperfecta. Fx fater min trauma, +/- dentinogenesis imperfect (gray/brown) and HL (adults. ...
ACAN Osteogenesis imperfecta, type I; 166200; COL1A1 Osteogenesis imperfecta, type II; 166210; COL1A2 Osteogenesis imperfecta, ... COL1A1 OI type III; 259420; COL1A1 OI type IV; 166220; COL1A1 Oligodontia-colorectal cancer syndrome; 608615; AXIN2 Omenn ... COL1A2 Osteogenesis imperfecta, type IV; 166220; COL1A2 Osteogenesis imperfecta, type IX; 259440; PPIB Osteogenesis imperfecta ... type VI; 610698; FKBP10 Osteogenesis imperfecta, type VII; 610682; CRTAP Osteogenesis imperfecta, type VIII; 610915; LEPRE1 ...
  • COL1A1 and COL1A2 . (mcponline.org)
  • The COL1A1 gene located on the long arm of chromosome 17 (17q21.31-17q22.05), and the COL1A2 gene is on chromosome 7 (7q21.3-7q22.1) ( 4 ). (mcponline.org)
  • Next-generation sequencing demonstrated that the family had compound heterozygous mutations in COL1A1 and COL1A2, with no known mutations related to PSIS, pituitary hormone deficiency (PHD), or holoprosencephaly (HPE). (frontiersin.org)
  • Mutations in the type I collagen genes (COL1A1 and COL1A2) mainly cause osteogenesis imperfecta (OI). (ugent.be)
  • Penetrance The penetrance in individuals heterozygous for a col1a1 or col1a2 pathogenic variant is 100%, although expression may vary considerably, even in the same family. (malacards.org)
  • Connective Tissue Gene Tests offers five panel options for Osteogenesis Imperfecta (OI) testing utilizing NextGen sequencing technology, an OI COL1A1 & COL1A2 panel, an OI core panel, a dominant OI panel, a recessive OI panel and a combined dominant and recessive OI panel. (ctgt.net)
  • All forms of OI are the result of mutations in COL1A1 or COL1A2, the genes that encode the proalpha1(I) and proalpha2(I) chains of type I collagen, respectively. (docphin.com)
  • Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2. (ox.ac.uk)
  • The segregation of COL1A1 and COL1A2, the two genes which encode the chains of type I collagen, was analyzed in 38 dominant osteogenesis imperfecta (OI) pedigrees by using polymorphic markers within or close to the genes. (ox.ac.uk)
  • On the other hand, Sillence OI type I segregated with both COL1A1 (17 pedigrees) and COL1A2 (7 pedigrees). (ox.ac.uk)
  • Of several other features, the presence or absence of presenile hearing loss was the best predictor of the mutant locus in OI type I families, with 13 of the 17 COL1A1 segregants and none of the 7 COL1A2 segregants showing this feature. (ox.ac.uk)
  • Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. (cdc.gov)
  • We performed mutational analysis of peripheral blood gDNA of 30 unrelated Estonian OI patients using Sanger sequencing of COL1A1 and COL1A2 genes, including all intron-exon junctions and 5'UTR and 3'UTR regions, to identify causative OI mutations. (cdc.gov)
  • 76.92% of discovered mutations were located in the COL1A1 (n = 20) and 23.08% in the COL1A2 (n = 6) gene. (cdc.gov)
  • [1] This occurs in more than 90% of cases due to mutations in the COL1A1 or COL1A2 genes. (wikipedia.org)
  • The main causes for developing the disorder are a result of mutations in the COL1A1 and COL1A2 genes which are responsible for the production of collagen type 1. (wikipedia.org)
  • [21] Approximately 90% of people with OI are heterozygous for mutations in both the COL1A1 and COL1A2 genes. (wikipedia.org)
  • The clinical features of OI, associated with mutations in the COL1A1 (OMIM 120150) & COL1A2 (OMIM 120160) genes, represent a range that includes perinatal mortality in patients with severe skeletal deformities, mobility problems and very short stature, while there are also individuals with mutations in one of the two genes who are virtually asymptomatic or with a mild predisposition to fractures and a normal stature and life. (intergenetics.eu)
  • Diagnosis is based on radiographic findings and also on genetic testing of the COL1A1 & COL1A2 genes, two relatively large in size genes with several mutations. (intergenetics.eu)
  • The classical Sillence types of OI (types I-IV) with autosomal dominant inheritance comprise about 80-85% of cases and are caused by mutations in the genes that encode type I collagen, COL1A1 and COL1A2 . (nih.gov)
  • Mutations in the COL1A1 and COL1A2 genes cause approximately 90 percent of all cases. (medlineplus.gov)
  • Osteogenesis imperfecta type I is caused by mutations in the COL1A1 gene or, less commonly, the COL1A2 gene. (medlineplus.gov)
  • The mutations that cause osteogenesis imperfecta types II, III, and IV occur in either the COL1A1 or COL1A2 gene. (medlineplus.gov)
  • When caused by mutations in the COL1A1 or COL1A2 gene, osteogenesis imperfecta has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. (medlineplus.gov)
  • OI type IV is caused by changes (mutations) in the COL1A1 or COL1A2 gene and is inherited in an autosomal dominant manner. (malacards.org)
  • An important gene associated with Osteogenesis Imperfecta, Type Iv is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix . (malacards.org)
  • Mutations responsible for osteogenesis imperfecta type II have been identified in both the COL1A1 and COL1A2 genes. (medicinenet.com)
  • Evidence suggests that OI results from abnormalities in the collagen gene COL1A1 or COL1A2 and possibly abnormalities in other genes. (encyclopedia.com)
  • Most cases result from mutations of either the COL1A1 gene or the COL1A2 gene. (dovepress.com)
  • We identified a novel COL1A2 gene mutation in a Czech patient, born to unaffected parents, who was diagnosed according to clinical and anthropometric findings and radiographic features as having type 3 osteogenesis imperfecta, which is a severe form of this disease. (dovepress.com)
  • This case report provides both evidence of a novel COL1A2 mutation resulting in type 3 osteogenesis imperfecta and a genotype:phenotype correlation in this affected individual. (dovepress.com)
  • OI is due to mutations involving several genes, the most commonly involved are the COL1A1 or COL1A2 genes which are responsible for the synthesis of the proalpha-1 and proalpha-2 polypeptide chains that form the type I collagen triple helix. (hindawi.com)
  • No correlation has been established to date between mutations affecting the COL1A1 and COL1A2 genes and hearing loss in OI [ 9 ]. (hindawi.com)
  • Osteogenesis imperfecta (OI) is most often caused by mutations in the type I procollagen genes (COL1A1/COL1A2). (uniprot.org)
  • The patients have mild OI caused by mutations in COL1A1 (Patient 1: p.Asp1219Asn) or COL1A2 (Patient 2: p.Ala1119Thr), respectively. (uniprot.org)
  • Most affected individuals have mutations on either the COL1A1 or COL1A2 gene. (rareshare.org)
  • OI type II, III, and IV occur with mutations at either the COL1A1 or COL1A2 gene. (rareshare.org)
  • The study found that Pycnogenol elevated COL1A1 by 29 percent and COL1A2 by 41 percent and increased hyaluronic acid production in skin by 44 percent. (thefreedictionary.com)
  • accurate diagnosis requires either sequencing of COL1A1 and COL1A2 or electrophoretic studies on collagen secreted by cultured skin fibroblasts (5). (thefreedictionary.com)
  • In addition, at the beginning and again after 12 weeks of Pycnogenol supplementation, a biopsy was obtained to assess gene expression of HAS-1 and COL1A1 and COL1A2. (thefreedictionary.com)
  • About 80%-90% of OI cases are caused by autosomal dominant mutations in the type 1 collagen genes, COL1A1 and COL1A2 . (nih.gov)
  • Kitaoka et al conducted a mutation analysis of the COL1A1 and COL1A2 genes and measured bone mineral density in two patients with Caffey disease. (medscape.com)
  • no mutations of COL1A1 or COL1A2 were identified in the affected members of the second family. (medscape.com)
  • 1 Mutations in COL1A1 or COL1A2 genes, which code for type I collagen, cause OI types I to IV. (jaoa.org)
  • Osteogenesis imperfecta is caused by mutations in the COL1A1 , COL1A2 , CRTAP , and P3H1 genes. (fetalmedicine.com)
  • Edwards MF, Wenstrup RJ, Byers PH, Cohn DH (1992) Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. (springer.com)
  • Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes COL1A1 and COL1A2 and is associated with hearing loss in approximately half of the cases. (biomedcentral.com)
  • type IV: 26), aged 3-89 years, with a mutation in either COL1A1 or COL1A2 and originating from 89 different families. (biomedcentral.com)
  • In the subsample of 114 OI subjects, no association was found between the nature of the mutation in COL1A1 or COL1A2 genes and the occurrence, type or severity of hearing loss. (biomedcentral.com)
  • In most cases, the genotype is characterized by a heterozygous mutation in either the COL1A1 or COL1A2 gene. (biomedcentral.com)
  • The genes COL1A1 and COL1A2 are both responsible for the formation of type I collagen, the major structural protein of bone, sclerae, ligaments, and tendons. (biomedcentral.com)
  • In the vast majority of cases, osteogenesis imperfecta results from a mutation in the COL1A1 or COL1A2 genes which encode proteins involved in the formation of type 1 collagen. (orthopaedia.com)
  • Mature collagen contains a large triple helix region in which two alpha1 chains (from the COL1A1 gene) and one alpha2 chain (from COL1A2) assemble together to form this triple helix. (orthopaedia.com)
  • In the most well-studied genetic abnormality in osteogenesis imperfecta, a point mutation in the COL1A1 and COL1A2 genes leads to the substitution of another amino acid for the normal glycine, which then alters the ability for the alpha chains to associate correctly when forming the triple helix. (orthopaedia.com)
  • Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous connective tissue disorder, mainly caused by mutations in COL1A1 and COL1A2, the genes encoding collagen type I. The cardinal symptoms include bone fragility and varying degrees of growth retardation. (avhandlingar.se)
  • COL1A1 and COL1A2 were the only two genes with variants that could be detected in all individuals. (avhandlingar.se)
  • COL1A2 gene mutation is associated with osteogenesis imperfecta . (antibodies-online.com)
  • This study compared the association of OSF and polymorphisms of six collagen-related genes, collagen 1A1 and 1A2 ( COL1A1 and COL1A2 ), collagenase-1 ( COLase ), transforming growth factor β1 ( TGF-β1 ), lysyl oxidase ( LYOXase ), and cystatin C ( CST3 ), between patients with low and high exposure to betel quids. (aacrjournals.org)
  • Even beyond the structural abnormalities that result from incorporating abnormal collagen fibrils into triple helices or from the synthesis of helices lacking the normal stoichiometry of COL1A1 and COL1A2 collagen chains, these mutations can alter cellular function directly or indirectly. (jci.org)
  • Dominant mutations in collagen I, encoded by COL1A1 and COL1A2, cause >90% of cases. (avhandlingar.se)
  • A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. (mpg.de)
  • Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2. (mpg.de)
  • Thirty-seven COL1A1 and COL1A2 mutations were identified, including 28 COL1A1 mutations and 9 COL1A2 mutations. (biomedcentral.com)
  • To date, more than 1,000 different COL1A1 / COL1A2 mutations have been identified in patients with OI ( https://oi.gene.le.ac.uk , accessed July 20, 2015). (biomedcentral.com)
  • Both COL1A1 and COL1A2 genes are very large, and they have rarely been analyzed systematically in Taiwan. (biomedcentral.com)
  • This mutation is analogous to mutations causing exon skipping in the major collagen genes, COL1A1, COL1A2, and COL3A1, identified in several cases of osteogenesis imperfecta and EDS type IV. (bmj.com)
  • Mutations in the COL1A2 gene encoding the alpha-2 chain are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. (thermofisher.com)
  • Symptoms associated with mutations in the COL1A2 gene which codes for the alpha-2 chain, however, tend to be less severe than mutations in the COL1A1 gene, reflecting the different role of alpha-2 chains in matrix integrity. (thermofisher.com)
  • Clinically, mutations in type I collagen genes are associated with osteogenesis imperfecta (OI) 1 and some forms of Ehlers-Danlos syndrome. (mcponline.org)
  • Copy number variation (CNV) analysis of the Osteogenesis imperfecta genes is also offered as a panel. (ctgt.net)
  • In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. (cdc.gov)
  • The main aim of the current research was to identify the mutational spectrum of COL1A1/2 genes in Estonian patients. (cdc.gov)
  • Osteogenesis imperfecta can be caused by mutations in one of several genes. (medlineplus.gov)
  • Mutations in other genes cause rare forms of osteogenesis imperfecta. (medlineplus.gov)
  • Other genes involved in osteogenesis imperfecta provide instructions for making proteins that control the development and function of bone-forming cells. (medlineplus.gov)
  • Association between bone mineral density and polymorphism of the VDR, ERalpha, COL1A1 and CTR genes in Spanish postmenopausal women. (thefreedictionary.com)
  • Subsequently, DPHD accelerated production of bone structural genes, including COL1A1 and osteocalcin comparably to 17[beta]-estradiol. (thefreedictionary.com)
  • Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation. (jaoa.org)
  • Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes. (jaoa.org)
  • Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC (1988) Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogenous disorder usually due to new mutations in the genes for type I collagen. (springer.com)
  • Reductions in the levels of mutant mRNA transcripts in fibroblasts or lymphoblastoid cell lines have been shown to be associated with PTC mutations in the fibrillin ( 16 ), β-globin ( 17 ), Col1A1 ( 18 ), and BRCA1 genes ( 19 ). (diabetesjournals.org)
  • B) Relative mRNA levels of the marker genes for osteoblasts - COL1A1, osteocalcin and Runx2 - determined by real-time quantitative RT-PCR 10 days after the embryoid bodies were transferred to a gelatinized six-multiwell plate in DMEM/10% FBS without any osteogenic supplements. (jci.org)
  • To investigate the osteogenic differentiation of PB-hMSCs, the quantitative expression of the mRNA of specific genes, like transcriptional factors (RUNX2), bone related genes (SPP1, COL1A1, COL3A1, BGLAP, ALPL, and FOSL1) and mesenchymal stem cells marker (CD105) were examined by means of real time Reverse Transcription-Polymerase Chain Reaction (real time RT-PCR). (ispub.com)
  • Osteogenesis Imperfecta is the result of a mutation in one of the two genes that carry instructions for making type 1 collagen. (radiopaedia.org)
  • Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta. (whiterose.ac.uk)
  • Although up to 90% of patients harbor pathogenic variants in the COL1A1/2 gene, which codes for collagen α1/2 chains, the spectrum of OI genotypes may differ between populations, and there is academic controversy around OI genotype-phenotype correlations. (frontiersin.org)
  • Sequencing of her genomic DNA revealed that she was heterozygous for the c.3880_3883dup mutation in exon 50 of the COL1A1 gene. (whiterose.ac.uk)
  • LEARNING POINTS: OI is a rare but important genetic metabolic bone and connective tissue disorder that manifests a diverse clinical phenotype that includes recurrent low-impact fractures.Most mutations that underlie OI occur within exon 50 of the COL1A1 gene (coding for protein constituents of type 1 pro-collagen).The diagnosis of OI is easily missed in its mild form. (whiterose.ac.uk)
  • Early diagnosis is important, and there is a need for improved awareness of OI among health care professionals.OI is a diagnosis of exclusion, although the key diagnostic criterion is through genetic testing for mutations within the COL1A1 gene.Effective management of OI should be instituted through a multidisciplinary team approach that includes a bone specialist (usually an endocrinologist or rheumatologist), a geneticist, an audiometrist and a genetic counsellor. (whiterose.ac.uk)
  • An important gene associated with Col1a1/2 Osteogenesis Imperfecta is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Collagen chain trimerization . (malacards.org)
  • The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. (medlineplus.gov)
  • A component of type I collagen called the pro-α1(I) chain is produced from the COL1A1 gene. (medlineplus.gov)
  • A particular mutation in the COL1A1 gene causes infantile cortical hyperostosis, commonly known as Caffey disease. (medlineplus.gov)
  • The mutation that causes this condition occurs in one copy of the COL1A1 gene in each cell. (medlineplus.gov)
  • Mutations in the COL1A1 gene have been found to cause several forms of Ehlers-Danlos syndrome, a group of disorders that affect the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. (medlineplus.gov)
  • These mutations occur in one copy of the COL1A1 gene in each cell. (medlineplus.gov)
  • At least five mutations in the COL1A1 gene can result in the arthrochalasia type of Ehlers-Danlos syndrome, which is characterized by an unusually large range of joint movement (hypermobility) and dislocations of both hips at birth. (medlineplus.gov)
  • COL1A1 gene mutations are also a very rare cause of the classical and vascular types of Ehlers-Danlos syndrome. (medlineplus.gov)
  • Additionally, people with classical Ehlers-Danlos syndrome resulting from a COL1A1 gene mutation are prone to tearing (rupture) of major arteries in adulthood. (medlineplus.gov)
  • One COL1A1 gene mutation that has been associated with both the classical and vascular types of Ehlers-Danlos syndrome replaces the amino acid arginine with the amino acid cysteine at position 312 in the pro-α1(I) chain (written as Arg312Cys or R312C). (medlineplus.gov)
  • Osteogenesis imperfecta is the most common disorder caused by mutations in the COL1A1 gene. (medlineplus.gov)
  • Osteogenesis imperfecta (OI) type I is the mildest form of heritable bone fragility resulting from mutations within the COL1 A1 gene. (elsevier.com)
  • Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains. (docphin.com)
  • Using a semi-quantitative RT-PCR assay, we compare the relative amounts of normal and mutant transcripts in unprocessed hnRNA and mature mRNA isolated from the nuclear fraction of cells from 11 OI type I individuals with previously identified mutations distributed throughout the COL1A1 gene. (docphin.com)
  • In our study, we looked for a rare gene variant in a patient with Osteogenesis Imperfecta type 1. (fortuneonline.org)
  • A gene sequencing came out to be COL1A1 positive having a nucleotide change of glycine acid mutation replaced by serine, which was a unique feature in a patient of OI, and as Glycine was critical for COL1A1 gene, its replacement leads to the patient presented as a homozygous case of OI. (fortuneonline.org)
  • COL1A1 is the only gene in which a pathogenic variant is known to cause Caffey disease. (nih.gov)
  • Most mutations that underlie OI occur within exon 50 of the COL1A1 gene (coding for protein constituents of type 1 pro-collagen). (bioscientifica.com)
  • OI is a diagnosis of exclusion, although the key diagnostic criterion is through genetic testing for mutations within the COL1A1 gene. (bioscientifica.com)
  • [email protected]#Osteogenesis imperfecta (OI), a heritable bone fragility disorder, is mainly caused by mutations in COL1A1 gene encoding α1 chain of type I collagen. (bvsalud.org)
  • Osteogenesis imperfecta type 6 may be caused by mutations in the SERPINF1 gene and is inherited in an autosomal recessive pattern. (nih.gov)
  • COL1A1 is the gene for type 1 alpha-1 chain of collagen (COL1A1) and is located in chromosome17q21.31-q22.05. (medicinenet.com)
  • OI type I occurs mainly with mutations in the COL1A1 gene. (rareshare.org)
  • Simon MP, Pedeutour F, Sirvent N, et al: Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. (thefreedictionary.com)
  • Various studies have supported the finding that a heterozygous missense mutation (c.3040c→T [p.41014C]) in exon 41 in the type I collagen alpha1 chain gene ( COL1A1 ) is responsible for this disease. (medscape.com)
  • Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos synd. (genecards.org)
  • COL1A1 (Collagen Type I Alpha 1 Chain) is a Protein Coding gene. (genecards.org)
  • Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene . (nih.gov)
  • Bonaventure J, Cohen-Solal L, Lasselin C, Maroteaux P (1992) A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta. (springer.com)
  • Cohn DH, Starman BJ, Blumberg B, Byers PH (1990) Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). (springer.com)
  • Mackay K, Byers PH, Dalgleish R (1993) An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the α1 chain of type I collagen: application to four patients with osteogenesis imperfecta. (springer.com)
  • In addition, allele-specificity, a key factor to the success of RNAi-based suppression, was explored with a view to developing a mutation-independent RNAi-based therapeutic for OI by targeting an intragenic SNP within transcripts derived from the COL1A1 gene. (tcd.ie)
  • In principle, Cas9 reagents to target the Col1a1 gene targeting site used in ES is possible, however there are no published reports are available to demonstrate feasibility. (transtechsociety.org)
  • Collagen I is encoded by the COL1A1 gene and forms the fibrils of tendon, dermis, cornea and bones. (miltenyibiotec.com)
  • Mutations in the COL1A1 gene are associated with Osteogenesis, the Ehlers-Danlos syndrome and different types of cancers. (miltenyibiotec.com)
  • There were no significant differences in the gene expression of stemness markers, and the morphology of cells that underwent adipogenesis, osteogenesis, and chondrogenesis, or GPDH activity between CKD and control groups. (nih.gov)
  • Steiner R, Adsit J, Basel D. COL1A1/2-Related Osteogenesis Imperfecta Genereviews at Gene Tests: Medical Genetics Information Resource http://www.genetests.org. (marshfieldclinic.org)
  • Do you need COL1A1 gene to express the COL1A1 protein for functional or characterization studies? (genscript.com)
  • The human COL1A1 gene is shown in the context of the human genome below. (genscript.com)
  • To see information about the COL1A1 gene in other species, please use the Search tool to select your desired species. (genscript.com)
  • This COL1A1 mutation was hitherto identified in four probands with lethal OI, and never in EDS patients. (ugent.be)
  • Here we provide the first biochemical characterization of a mutation at the signal peptide cleavage site of COL1A1, a domain not yet characterized. (uzh.ch)
  • This study aimed to investigate the COL1A1 mutation spectrum and quantitatively assess the genotype-phenotype relationship in a large cohort of Chinese patients with OI. (bvsalud.org)
  • The COL1A1 mutation spectrum was identified by next generation sequencing and confirmed by Sanger sequencing. (bvsalud.org)
  • [email protected]#This presented distinctive COL1A1 mutation spectrum in a large cohort of Chinese patients with OI. (bvsalud.org)
  • [ 18 ] The investigators concluded that Caffey disease is genetically heterogeneous and that affected and unaffected adult patients with or without the common COL1A1 mutation have normal BMD. (medscape.com)
  • Genetic analysis confirmed the COL1A1 mutation. (medscape.com)
  • Constantinou CD, Pack M, Young SB, Prockop DJ (1990) Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for α1-glycine 904 in a type I procollagen (COL1A1). (springer.com)
  • Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta. (uzh.ch)
  • Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. (uzh.ch)
  • Osteogenesis imperfecta is a disease caused by genetic mutation that causes abnormal type 1 collagen cross-linking. (orthopaedia.com)
  • In the individuals with a COL1A1 mutation, 70% (7/10) of those with a glycine substitution located C-terminal of p.Gly305 exhibited DGI in both dentitions while no individual (0/7) with a mutation N-terminal of this point exhibited DGI in either dentition (p=0.01). (avhandlingar.se)
  • Generation of a heterozygous COL1A1 (c.3969_3970insT) osteogenesis imperfecta mutation human iPSC line, MCRIi001-A-1, using CRISPR/Cas9 editing. (edu.au)
  • Col1a1/2 Osteogenesis Imperfecta, also known as brittle bone disease , is related to high bone mass osteogenesis imperfecta and cole-carpenter syndrome . (malacards.org)
  • COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. (uniprot.org)
  • Abuelo DN, Byers PH (1991) Germline mosaicism in progressive deforming osteogenesis imperfecta (abstract). (springer.com)
  • Popular Abstract in Swedish (Populärvetenskaplig sammanfattning) I Skandinavien drabbas 1 av 3 000 människor av en ärftlig näthinnedegeneration som ofta leder till en grav synnedsättning och inte sällan till blindhet. (dissertations.se)
  • COL1A1 haploinsufficiency mutations lead to the mildest form of osteogenesis imperfecta (OI), OI type I. The skeletal clinical characteristics resulting from such mutations have not been characterized in detail. (cdc.gov)
  • Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. (medlineplus.gov)
  • 71 Osteogenesis imperfecta 4: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. (malacards.org)
  • Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily. (nih.gov)
  • Osteogenesis imperfecta type VI is a moderate to severe form of osteogenesis imperfecta that affects the bones but is distinctive in the bone characteristics at a microscopic level (histology). (nih.gov)
  • Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta. (wikipedia.org)
  • Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. (medlineplus.gov)
  • A defect in the structure of type I collagen weakens connective tissues, particularly bone, resulting in the characteristic features of these more severe types of osteogenesis imperfecta. (medlineplus.gov)
  • Unlike other types of osteogenesis imperfecta, the whites of the eyes ( sclerae ) and teeth do not appear to be affected. (nih.gov)
  • There are four main types of osteogenesis imperfecta: type I is the most common and the mildest form of the disorder, and is caused by an inadequate production of type 1 collagen. (orthopaedia.com)
  • Four main types of osteogenesis imperfecta have been identified. (orthopaedia.com)
  • Four types of osteogenesis imperfecta have been classically described (see Table 1), but as many as 15 more have been added since. (orthopaedia.com)
  • Given that mutant COL1A1 is known to cause Osteogenesis Imperfecta (OI), tools to modulate COL1A1 expression are likely to be of significant therapeutic value. (tcd.ie)
  • To identify the spectrum of collagen I pathogenic variants, COL1A1/2 mutational analysis with Sanger sequencing was performed on the youngest affected individual of every family. (frontiersin.org)
  • The current article presents an analysis of the clinical manifestations and COL1A1/2 mutational spectrum of 94 Ukrainian OI families with 27 novel COL1A1/2 pathogenic variants. (frontiersin.org)
  • The Estonian OI cohort differs due to the high number of quantitative variants and simple missense variants, which are mostly Gly to Ser substitutions and do not extend the chain domain of COL1A1/2 products. (cdc.gov)
  • De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta. (etis.ee)
  • Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes. (medlineplus.gov)
  • also known as osteogenesis imperfecta with normal sclerae. (phosphosite.org)
  • Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, clinically characterized by a variable degree of bone fragility with recurrent fractures, scoliosis, bone deformities, and short stature as well as non-skeletal abnormalities including blue sclerae, abnormal dentition, and joint hyperlaxity. (biomedcentral.com)
  • Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1. (cdc.gov)
  • Clinical characteristics of osteogenesis imperfecta. (intechopen.com)
  • Osteogenesis imperfecta (OI) is a genetic disease in which the most common mutations result in substitutions for glycine residues in the triple helical domain of the chains of type I collagen. (mcponline.org)
  • Substitution of the glycine by a larger amino acid, as in osteogenesis imperfecta, inhibits the formation of the normal helix. (orthopaedia.com)
  • There are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. (medlineplus.gov)
  • Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. (medlineplus.gov)
  • The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. (medlineplus.gov)
  • The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. (medlineplus.gov)
  • There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII with overlapping characteristic features. (fetalmedicine.com)
  • This has since been revised and up to eight forms of osteogenesis imperfecta have been identified. (radiopaedia.org)
  • Early in his childhood, the patient received a diagnosis of osteogenesis imperfecta (OI) type I. His medical history included 27 bone fractures before age 12 years, multiple tendon ruptures, osteoporosis, a mechanical aortic valve replacement, and recurrent corneal erosions. (jaoa.org)
  • Classically, patients with osteogenesis imperfecta have stunted growth. (orthopaedia.com)
  • Patients with osteogenesis imperfecta can have abnormal valvular tissue leading to mitral valve prolapse or aortic regurgitation. (orthopaedia.com)
  • the efficacy of pamidronate treatment does not seem to be related to the genotype of type I collagen in patients with osteogenesis imperfecta . (antibodies-online.com)
  • The first classification of osteogenesis imperfecta was by Looser, in 1906 who divided the condition into two forms, osteogenesis imperfecta congenita (also known as Vrolik disease) and osteogenesis imperfecta tarda (also known as Ekman-Lobstein disease). (radiopaedia.org)
  • Osteogenesis imperfecta (OI) is a group of rare congenital disorders of the connective tissue, also known as a brittle bone disease. (frontiersin.org)
  • Osteogenesis imperfecta or "brittle bone disease" is a congenital disorder of connective tissue causing the bone to break easily. (uzh.ch)
  • Osteogenesis imperfecta ( OI ), also known as brittle bone disease , is a group of genetic disorders that mainly affect the bones . (wikipedia.org)
  • Osteogenesis imperfecta (OI, or Brittle Bone Disease) is a clinically and genetically heterogeneous group of heritable disorders of connective tissue. (nih.gov)
  • Osteogenesis imperfecta type II, an inherited connective tissue disorder with very severe bone fragility, the lethal form of " brittle bone disease . (medicinenet.com)
  • However, in matched donors, adipogenesis and osteogenesis potentials of MSCs from the knees are superior to those from the hips. (hindawi.com)
  • Based on the fact that aging is associated with a reciprocal decrease of osteogenesis and an increase of adipogenesis in bone marrow and that osteoblasts and adipocytes share a common progenitor, this study investigated the role of PPARγ, a key regulator of adipocyte differentiation, in bone metabolism. (jci.org)
  • Adipogenesis and osteogenesis in the mouse ES cell cultures of homozygous PPARγ -deficient ( PPARγ -/- ) and WT genotypes. (jci.org)
  • The classic "blue sclera" of osteogenesis imperfecta (courtesy Wikipedia). (orthopaedia.com)
  • The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well as, blue sclera, dental fragility, and hearing loss. (radiopaedia.org)
  • Skeletal survey in a female age five weeks with the defining COL1A1 p.Arg1014Cys pathogenic variant who presented with painful swelling over the right tibia. (nih.gov)
  • Clinical photograph and x-ray of male age two months with the defining COL1A1 p.Arg1014Cys pathogenic variant who presented with irritability and swelling over the right tibia. (nih.gov)
  • Lethal types of congenital skeletal dysplasia include achondrogenesis, homozygous achondroplasia, chondrodysplasia punctata (recessive form), camptomelic dysplasia, congenital lethal hypophosphatasia, perinatal lethal type of osteogenesis imperfecta, thanatophoric dysplasia, and short-rib polydactyly syndromes. (medscape.com)
  • Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. (medlineplus.gov)
  • Cohen-Solal L, Bonaventure J, Maroteaux P (1991) Dominant mutations in familial lethal and severe osteogenesis imperfecta. (springer.com)
  • Osteogenesis imperfecta (OI) is a heterogeneous disease of connective tissue, the cardinal symptom being fractures and severity ranging from mild to lethal. (avhandlingar.se)
  • The clinical presentation of osteogenesis imperfecta is highly variable, ranging from a mild form with no deformity, normal stature, and few fractures to a form that is lethal during the perinatal period. (radiopaedia.org)
  • Osteogenesis Imperfecta is classified into four types (I, II, III, and IV) based on clinical and radiological findings. (intergenetics.eu)
  • The clinical features of osteogenesis imperfecta in Vietnam. (etis.ee)
  • The Brittle Bone Disorders Consortium (BBD) is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research on Osteogenesis Imperfecta (OI). (nih.gov)
  • Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. (abnova.com)
  • Mutations identified in patients with OI type I lead to premature termination codons and allele-specific reductions of nuclear mRNA (termed nonsense-mediated mRNA decay or NMD), resulting in a COL1A1 null allele. (docphin.com)
  • De novo Most cases of osteogenesis imperfecta have an autosomal dominant pattern of inheritance, but most infants with more severe forms of the condition (types II and III) are caused by new mutations. (fetalmedicine.com)
  • As the peaks on the electropherogram corresponding to the mutant allele were decreased in intensity, weperformed next generation sequencing of COL1A1 to study mosaicism in skin and blood. (ugent.be)
  • The first are haploinsufficiency mutations caused by frameshift, nonsense, and splice-site mutations, which lead to failure to synthesize the products of one COL1A1 allele. (biomedcentral.com)
  • They add valuable information about the complex issue of genotype/phenotype correlations in osteogenesis imperfecta (OI). (aappublications.org)
  • Sulev Kõks, Inter- and intrafamilial diversity based on genotype and phenotype correlations of Osteogenesis Imperfecta, Tartu Ülikool, Arstiteaduskond, Traumatoloogia ja ortopeedia kliinik. (etis.ee)
  • Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta [published correction appears in Eur J Hum Genet . (jaoa.org)
  • Genotype-phenotype study in type V osteogenesis imperfecta. (uzh.ch)
  • A fundamental pathology in osteogenesis imperfecta is a disturbance in the synthesis of type I collagen, which is the predominant protein of the extracellular matrix of most tissues. (radiopaedia.org)
  • Osteogenesis imperfecta (OI) is a congenital disorder characterized by increased bone fragility and low bone mass. (biomedcentral.com)
  • Osteogenesis imperfecta affects both bone quality and quantity (i.e. bone mass). (radiopaedia.org)
  • Osteogenesis Imperfecta (OI) is characterized by bone fractures with minimal or no trauma, dentinogenesis imperfecta (DI) and hearing loss in adults. (intergenetics.eu)
  • Osteogenesis imperfecta type 1 is non-deforming with normal height or mild short stature, and no dentinogenesis imperfecta. (phosphosite.org)
  • Association of COL1A1 and otosclerosis: Evidence for a shared genetic etiology with mild osteogenesis imperfecta. (thefreedictionary.com)
  • Osteogenesis imperfecta affects approximately 1 in 10,000 to 20,000 people worldwide. (medlineplus.gov)
  • Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, characterized by reduced bone content, fractures and skeletal malformation due to abnormal synthesis or dysfunction of type I collagen protein. (frontiersin.org)
  • Osteogenesis imperfecta type 6 has an autosomal recessive pattern of inheritance. (nih.gov)
  • what type of inheritance for osteogenesis imperfecta? (healthtap.com)
  • In conclusion, the introduction of an Fnu4HI restriction site allows us to perform S and s genotyping of the COL1A1 Sp1 polymorphism by PCR-restriction fragment length polymorphism and polyacrylamide minigel electrophoresis. (thefreedictionary.com)
  • Murine micromass models have been extensively applied to study chondrogenesis and osteogenesis to elucidate pathways of endochondral bone formation. (mdpi.com)
  • MS275 and valproic acid caused a reduction in expression of all three markers, suggesting effects on both chondrogenesis and osteogenesis. (nih.gov)
  • Osteogenesis imperfecta is a heritable bone fragility disease with a heterogenic genetic origin. (dovepress.com)
  • Osteogenesis imperfecta (OI), a dominantly inherited connective tissue disorder, is usually caused by defects in collagen I. There is growing evidence for parental mosaicism that results in affected children born to unaffected parents. (springer.com)
  • Osteogenesis imperfecta (OI) is a hereditary bone disorder caused by defects of type I collagen. (frontiersin.org)
  • Osteogenesis imperfecta (OI) is a heterogeneous disorder of type I collagen resulting in varying degrees of severity. (docphin.com)
  • Osteogenesis imperfecta (OI) is a rare bone disorder. (cdc.gov)
  • Osteogenesis imperfecta is a genetic disorder that causes increased bone fractures and collagen defects. (wikipedia.org)
  • Osteogenesis Imperfecta (OI) is a genetic disorder of bone fragility. (fortuneonline.org)
  • Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder that manifests clinically as extreme bone fragility, brittleness and growth disorder (1) . (bioscientifica.com)
  • 53 Osteogenesis imperfecta (OI) is a connective tissue disorder that is caused by an abnormality of type I collagen in over 90% of cases. (malacards.org)
  • Osteogenesis imperfecta (OI) is a rare, heritable systemic disorder of bone and connective tissue, which in almost 90% of cases is due to mutations affecting the normal synthesis of type I collagen. (dovepress.com)
  • Osteogenesis imperfecta (OI) is a rare clinically and genetically heterogeneous systemic disorder of bone and connective tissue characterized by bone fragility and physical findings related to the underlying connective tissue disorder. (dovepress.com)
  • Osteogenesis imperfecta (OI) is the most common heritable disorder of connective tissue. (hindawi.com)
  • Osteogenesis imperfecta is most commonly an autosomal-dominant connective tissue disorder that occurs in 5.4 to 7.4 of 100,000 births. (jaoa.org)
  • a Mutational spectrum of COL1A1/2 mutations in Estonian OI patients. (cdc.gov)
  • The expression of collagen type X, alpha 1 ( COL10A1 ), alkaline phosphatase ( ALP ), osteopontin ( OPN ), osteocalcin ( OC ), collagen type I, alpha 1 ( COL1A1 ) was analyzed with real-time reverse transcription (RT) PCR, and the ALP activity was measured. (biomedcentral.com)