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 process of bone formation. Histogenesis of bone including ossification.
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.
Bone-forming cells which secrete an EXTRACELLULAR MATRIX. HYDROXYAPATITE crystals are then deposited into the matrix to form bone.
Renewal or repair of lost bone tissue. It excludes BONY CALLUS formed after BONE FRACTURES but not yet replaced by hard bone.
A biosynthetic precursor of collagen containing additional amino acid sequences at the amino-terminal and carboxyl-terminal ends of the polypeptide chains.
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.
Process by which organic tissue becomes hardened by the physiologic deposit of calcium salts.
A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principle cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX.
The largest and strongest bone of the FACE constituting the lower jaw. It supports the lower teeth.
A transcription factor that dimerizes with CORE BINDING FACTOR BETA SUBUNIT to form core binding factor. It contains a highly conserved DNA-binding domain known as the runt domain and is involved in genetic regulation of skeletal development and CELL DIFFERENTIATION.
The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.
Bone-marrow-derived, non-hematopoietic cells that support HEMATOPOETIC STEM CELLS. They have also been isolated from other organs and tissues such as UMBILICAL CORD BLOOD, umbilical vein subendothelium, and WHARTON JELLY. These cells are considered to be a source of multipotent stem cells because they include subpopulations of mesenchymal stem cells.
An enzyme that catalyzes the conversion of an orthophosphoric monoester and water to an alcohol and orthophosphate. EC 3.1.3.1.
Extracellular substance of bone tissue consisting of COLLAGEN fibers, ground substance, and inorganic crystalline minerals and salts.
External devices which hold wires or pins that are placed through one or both cortices of bone in order to hold the position of a fracture in proper alignment. These devices allow easy access to wounds, adjustment during the course of healing, and more functional use of the limbs involved.
A potent osteoinductive protein that plays a critical role in the differentiation of osteoprogenitor cells into OSTEOBLASTS.
The second longest bone of the skeleton. It is located on the medial side of the lower leg, articulating with the FIBULA laterally, the TALUS distally, and the FEMUR proximally.
The bony deposit formed between and around the broken ends of BONE FRACTURES during normal healing.
X-RAY COMPUTERIZED TOMOGRAPHY with resolution in the micrometer range.
An autosomal dominant disorder of tooth development characterized by opalescent dentin resulting in discoloration of the teeth. The dentin develops poorly with low mineral content while the pulp canal is obliterated.
A bone fixation technique using an external fixator (FIXATORS, EXTERNAL) for lengthening limbs, correcting pseudarthroses and other deformities, and assisting the healing of otherwise hopeless traumatic or pathological fractures and infections, such as chronic osteomyelitis. The method was devised by the Russian orthopedic surgeon Gavriil Abramovich Ilizarov (1921-1992). (From Bull Hosp Jt Dis 1992 Summer;52(1):1)
Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.
The growth and development of bones from fetus to adult. It includes two principal mechanisms of bone growth: growth in length of long bones at the epiphyseal cartilages and growth in thickness by depositing new bone (OSTEOGENESIS) with the actions of OSTEOBLASTS and OSTEOCLASTS.
Thin outer membrane that surrounds a bone. It contains CONNECTIVE TISSUE, CAPILLARIES, nerves, and a number of cell types.
Intraoral OSTEOTOMY of the lower jaw usually performed in order to correct MALOCCLUSION.
The physiological restoration of bone tissue and function after a fracture. It includes BONY CALLUS formation and normal replacement of bone tissue.
Vitamin K-dependent calcium-binding protein synthesized by OSTEOBLASTS and found primarily in BONES. Serum osteocalcin measurements provide a noninvasive specific marker of bone metabolism. The protein contains three residues of the amino acid gamma-carboxyglutamic acid (Gla), which, in the presence of CALCIUM, promotes binding to HYDROXYAPATITE and subsequent accumulation in BONE MATRIX.
The formation of cartilage. This process is directed by CHONDROCYTES which continually divide and lay down matrix during development. It is sometimes a precursor to OSTEOGENESIS.
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.
The differentiation of pre-adipocytes into mature ADIPOCYTES.
Mature osteoblasts that have become embedded in the BONE MATRIX. They occupy a small cavity, called lacuna, in the matrix and are connected to adjacent osteocytes via protoplasmic projections called canaliculi.
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 highly glycosylated and sulfated phosphoprotein that is found almost exclusively in mineralized connective tissues. It is an extracellular matrix protein that binds to hydroxyapatite through polyglutamic acid sequences and mediates cell attachment through an RGD sequence.
The development of bony substance in normally soft structures.
The longest and largest bone of the skeleton, it is situated between the hip and the knee.
The growth action of bone tissue as it assimilates surgically implanted devices or prostheses to be used as either replacement parts (e.g., hip) or as anchors (e.g., endosseous dental implants).
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.
Abnormally small jaw.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
A non-vascular form of connective tissue composed of CHONDROCYTES embedded in a matrix that includes CHONDROITIN SULFATE and various types of FIBRILLAR COLLAGEN. There are three major types: HYALINE CARTILAGE; FIBROCARTILAGE; and ELASTIC CARTILAGE.
Bone-growth regulatory factors that are members of the transforming growth factor-beta superfamily of proteins. They are synthesized as large precursor molecules which are cleaved by proteolytic enzymes. The active form can consist of a dimer of two identical proteins or a heterodimer of two related bone morphogenetic proteins.
Fractures of the lower jaw.
A fibrillar collagen found primarily in interstitial CARTILAGE. Collagen type XI is heterotrimer containing alpha1(XI), alpha2(XI) and alpha3(XI) subunits.
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 fibril-associated collagen usually found crosslinked to the surface of COLLAGEN TYPE II fibrils. It is a heterotrimer containing alpha1(IX), alpha2(IX) and alpha3(IX) subunits.
The surgical cutting of a bone. (Dorland, 28th ed)
Diseases of BONES.
Abnormal development of cartilage and bone.
A fibrillar collagen found predominantly in CARTILAGE and vitreous humor. It consists of three identical alpha1(II) chains.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
The stable placement of surgically induced fractures of the mandible or maxilla through the use of elastics, wire ligatures, arch bars, or other splints. It is used often in the cosmetic surgery of retrognathism and prognathism. (From Dorland, 28th ed, p636)
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A type of fibrous joint between bones of the head.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A non-fibrillar collagen that forms a network of MICROFIBRILS within the EXTRACELLULAR MATRIX of CONNECTIVE TISSUE. The alpha subunits of collagen type VI assemble into antiparallel, overlapping dimers which then align to form tetramers.
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.
Cells contained in the bone marrow including fat cells (see ADIPOCYTES); STROMAL CELLS; MEGAKARYOCYTES; and the immediate precursors of most blood cells.
Polymorphic cells that form cartilage.
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
A non-fibrillar collagen originally found in DESCEMET MEMBRANE. It is expressed in endothelial cell layers and in tissues undergoing active remodeling. It is heterotrimer comprised of alpha1(VIII) and alpha2(VIII) chains.
Synthetic or natural materials for the replacement of bones or bone tissue. They include hard tissue replacement polymers, natural coral, hydroxyapatite, beta-tricalcium phosphate, and various other biomaterials. The bone substitutes as inert materials can be incorporated into surrounding tissue or gradually replaced by original tissue.
Cell growth support structures composed of BIOCOMPATIBLE MATERIALS. They are specially designed solid support matrices for cell attachment in TISSUE ENGINEERING and GUIDED TISSUE REGENERATION uses.
The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
Increase in the longest dimension of a bone to correct anatomical deficiencies, congenital, traumatic, or as a result of disease. The lengthening is not restricted to long bones. The usual surgical methods are internal fixation and distraction.
The thickest and spongiest part of the maxilla and mandible hollowed out into deep cavities for the teeth.
A fibrillar collagen found widely distributed as a minor component in tissues that contain COLLAGEN TYPE I and COLLAGEN TYPE III. It is a heterotrimeric molecule composed of alpha1(V), alpha2(V) and alpha3(V) subunits. Several forms of collagen type V exist depending upon the composition of the subunits that form the trimer.
Connective tissue cells of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere.
The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS.
Breaks in bones.
Genes that influence the PHENOTYPE only in the homozygous state.
A non-fibrillar collagen found in the structure of BASEMENT MEMBRANE. Collagen type IV molecules assemble to form a sheet-like network which is involved in maintaining the structural integrity of basement membranes. The predominant form of the protein is comprised of two alpha1(IV) subunits and one alpha2(IV) subunit, however, at least six different alpha subunits can be incorporated into the heterotrimer.
The continuous turnover of BONE MATRIX and mineral that involves first an increase in BONE RESORPTION (osteoclastic activity) and later, reactive BONE FORMATION (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium HOMEOSTASIS. An imbalance in the regulation of bone remodeling's two contrasting events, bone resorption and bone formation, results in many of the metabolic bone diseases, such as OSTEOPOROSIS.
The area between the EPIPHYSIS and the DIAPHYSIS within which bone growth occurs.
A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.
Generating tissue in vitro for clinical applications, such as replacing wounded tissues or impaired organs. The use of TISSUE SCAFFOLDING enables the generation of complex multi-layered tissues and tissue structures.
The mineral component of bones and teeth; it has been used therapeutically as a prosthetic aid and in the prevention and treatment of osteoporosis.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Macromolecular organic compounds that contain carbon, hydrogen, oxygen, nitrogen, and usually, sulfur. These macromolecules (proteins) form an intricate meshwork in which cells are embedded to construct tissues. Variations in the relative types of macromolecules and their organization determine the type of extracellular matrix, each adapted to the functional requirements of the tissue. The two main classes of macromolecules that form the extracellular matrix are: glycosaminoglycans, usually linked to proteins (proteoglycans), and fibrous proteins (e.g., COLLAGEN; ELASTIN; FIBRONECTINS; and LAMININ).
The grafting of bone from a donor site to a recipient site.
Organic compounds which contain P-C-P bonds, where P stands for phosphonates or phosphonic acids. These compounds affect calcium metabolism. They inhibit ectopic calcification and slow down bone resorption and bone turnover. Technetium complexes of diphosphonates have been used successfully as bone scanning agents.
Fractures occurring as a result of disease of a bone or from some undiscoverable cause, and not due to trauma. (Dorland, 27th ed)
A family of peptidyl-prolyl cis-trans isomerases that bind to CYCLOSPORINS and regulate the IMMUNE SYSTEM. EC 5.2.1.-
A negatively-charged extracellular matrix protein that plays a role in the regulation of BONE metabolism and a variety of other biological functions. Cell signaling by osteopontin may occur through a cell adhesion sequence that recognizes INTEGRIN ALPHA-V BETA-3.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Artificial substitutes for body parts and materials inserted into organisms during experimental studies.
General disorders of the sclera or white of the eye. They may include anatomic, embryologic, degenerative, or pigmentation defects.
A plant family of the order Rhamnales, subclass Rosidae class Magnoliopsida. The plants have a characteristic silvery or rusty-colored sheen, caused by tiny distinctive scales. Flowers have a tubular structure of four sepals. Root nodules host the Frankia (ACTINOMYCETES) nitrogen-fixing symbionts.
Removal of mineral constituents or salts from bone or bone tissue. Demineralization is used as a method of studying bone strength and bone chemistry.
The inner and longer bone of the FOREARM.
Persistent flexure or contracture of a joint.
A condition in which one of a pair of legs fails to grow as long as the other, which could result from injury or surgery.
Preprosthetic surgery involving rib, cartilage, or iliac crest bone grafts, usually autologous, or synthetic implants for rebuilding the alveolar ridge.
A family of structurally related collagens that form the characteristic collagen fibril bundles seen in CONNECTIVE TISSUE.
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
The molecular unit of collagen fibrils that consist of repeating three-stranded polypeptide units arranged head to tail in parallel bundles. It is a right-handed triple helix composed of 2 polypeptide chains. It is rich in glycine, proline, hydroxyproline, and hydroxylysine.
An extracellular endopeptidase which excises a block of peptides at the amino terminal, nonhelical region of the procollagen molecule with the formation of collagen. Absence or deficiency of the enzyme causes accumulation of procollagen which results in the inherited connective tissue disorder--dermatosparaxis. EC 3.4.24.14.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
A meshwork-like substance found within the extracellular space and in association with the basement membrane of the cell surface. It promotes cellular proliferation and provides a supporting structure to which cells or cell lysates in culture dishes adhere.
The properties, processes, and behavior of biological systems under the action of mechanical forces.
An individual having different alleles at one or more loci regarding a specific character.
Surgical procedures used to treat disease, injuries, and defects of the oral and maxillofacial region.
Calcium salts of phosphoric acid. These compounds are frequently used as calcium supplements.
Biocompatible materials placed into (endosseous) or onto (subperiosteal) the jawbone to support a crown, bridge, or artificial tooth, or to stabilize a diseased tooth.
A nonhormonal medication for the treatment of postmenopausal osteoporosis in women. This drug builds healthy bone, restoring some of the bone loss as a result of osteoporosis.
Agents that inhibit BONE RESORPTION and/or favor BONE MINERALIZATION and BONE REGENERATION. They are used to heal BONE FRACTURES and to treat METABOLIC BONE DISEASES such as OSTEOPOROSIS.
A bone morphogenetic protein that is widely expressed during EMBRYONIC DEVELOPMENT. It is both a potent osteogenic factor and a specific regulator of nephrogenesis.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
A purely physical condition which exists within any material because of strain or deformation by external forces or by non-uniform thermal expansion; expressed quantitatively in units of force per unit area.
Congenital structural abnormalities and deformities of the musculoskeletal system.
A set of twelve curved bones which connect to the vertebral column posteriorly, and terminate anteriorly as costal cartilage. Together, they form a protective cage around the internal thoracic organs.
Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis.
Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
The spinal or vertebral column.
A mobile chain of three small bones (INCUS; MALLEUS; STAPES) in the TYMPANIC CAVITY between the TYMPANIC MEMBRANE and the oval window on the wall of INNER EAR. Sound waves are converted to vibration by the tympanic membrane then transmitted via these ear ossicles to the inner ear.
All of the processes involved in increasing CELL NUMBER including CELL DIVISION.
A dark-gray, metallic element of widespread distribution but occurring in small amounts; atomic number, 22; atomic weight, 47.90; symbol, Ti; specific gravity, 4.5; used for fixation of fractures. (Dorland, 28th ed)
A bone morphogenetic protein that is a potent inducer of bone formation. It also functions as a regulator of MESODERM formation during EMBRYONIC DEVELOPMENT.
A biocompatible polymer used as a surgical suture material.
Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
Glycoproteins which contain sialic acid as one of their carbohydrates. They are often found on or in the cell or tissue membranes and participate in a variety of biological activities.
Numerical expression indicating the measure of stiffness in a material. It is defined by the ratio of stress in a unit area of substance to the resulting deformation (strain). This allows the behavior of a material under load (such as bone) to be calculated.
The quality of surface form or outline of CELLS.
Fractures of the femur.
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.
Cyanogen bromide (CNBr). A compound used in molecular biology to digest some proteins and as a coupling reagent for phosphoroamidate or pyrophosphate internucleotide bonds in DNA duplexes.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
An individual in which both alleles at a given locus are identical.
An infant during the first month after birth.
Congenital absence of or defects in structures of the jaw.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
Relatively undifferentiated cells that retain the ability to divide and proliferate throughout postnatal life to provide progenitor cells that can differentiate into specialized cells.
A large multinuclear cell associated with the BONE RESORPTION. An odontoclast, also called cementoclast, is cytomorphologically the same as an osteoclast and is involved in CEMENTUM resorption.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.
Elements of limited time intervals, contributing to particular results or situations.
Rods of bone, metal, or other material used for fixation of the fragments or ends of fractured bones.
A fracture in which union fails to occur, the ends of the bone becoming rounded and eburnated, and a false joint occurs. (Stedman, 25th ed)
A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonal development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins.
The white, opaque, fibrous, outer tunic of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea. It is essentially avascular but contains apertures for vessels, lymphatics, and nerves. It receives the tendons of insertion of the extraocular muscles and at the corneoscleral junction contains the canal of Schlemm. (From Cline et al., Dictionary of Visual Science, 4th ed)
Mandibulofacial dysostosis with congenital eyelid dermoids.
A fibrillar collagen consisting of three identical alpha1(III) chains that is widely distributed in many tissues containing COLLAGEN TYPE I. It is particularly abundant in BLOOD VESSELS and may play a role in tissues with elastic characteristics.
A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
Surgical insertion of an appliance for the replacement of areas of the mandible.
Synthetic or natural materials, other than DRUGS, that are used to replace or repair any body TISSUES or bodily function.
A prosthetic appliance for the replacement of areas of the mandible missing or defective as a result of deformity, disease, injury, or surgery.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
The fibrous CONNECTIVE TISSUE surrounding the TOOTH ROOT, separating it from and attaching it to the alveolar bone (ALVEOLAR PROCESS).
Injuries of tissue other than bone. The concept is usually general and does not customarily refer to internal organs or viscera. It is meaningful with reference to regions or organs where soft tissue (muscle, fat, skin) should be differentiated from bones or bone tissue, as "soft tissue injuries of the hand".
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
Fixation and immobility of a joint.
Mice bearing mutant genes which are phenotypically expressed in the animals.
Bone loss due to osteoclastic activity.
The susceptibility of CAPILLARIES, under conditions of increased stress, to leakage.
One of a set of bone-like structures in the mouth used for biting and chewing.
Congenital or acquired asymmetry of the face.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Biochemical identification of mutational changes in a nucleotide sequence.
Glycoproteins which have a very high polysaccharide content.
A bone morphogenetic protein family member that includes an active tolloid-like metalloproteinase domain. The metalloproteinase activity of bone morphogenetic protein 1 is specific for the removal of the C-propeptide of PROCOLLAGEN and may act as a regulator of EXTRACELLULAR MATRIX deposition. Alternative splicing of MRNA for bone morphogenetic protein 1 results in the production of several PROTEIN ISOFORMS.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Established cell cultures that have the potential to propagate indefinitely.
A prosthesis that gains its support, stability, and retention from a substructure that is implanted under the soft tissues of the basal seat of the device and is in contact with bone. (From Boucher's Clinical Dental Terminology, 4th ed)
The developmental history of specific differentiated cell types as traced back to the original STEM CELLS in the embryo.
A non-fibrillar collagen involved in anchoring the epidermal BASEMENT MEMBRANE to underlying tissue. It is a homotrimer comprised of C-terminal and N-terminal globular domains connected by a central triple-helical region.
The region of the HAND between the WRIST and the FINGERS.
Fenestra or oval opening on the lateral wall of the vestibular labyrinth adjacent to the MIDDLE EAR. It is located above the cochlear round window and normally covered by the base of the STAPES.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
The formation of dentin. Dentin first appears in the layer between the ameloblasts and odontoblasts and becomes calcified immediately. Formation progresses from the tip of the papilla over its slope to form a calcified cap becoming thicker by the apposition of new layers pulpward. A layer of uncalcified dentin intervenes between the calcified tissue and the odontoblast and its processes. (From Jablonski, Dictionary of Dentistry, 1992)
Dense fibrous layer formed from mesodermal tissue that surrounds the epithelial enamel organ. The cells eventually migrate to the external surface of the newly formed root dentin and give rise to the cementoblasts that deposit cementum on the developing root, fibroblasts of the developing periodontal ligament, and osteoblasts of the developing alveolar bone.
The maximum stress a material subjected to a stretching load can withstand without tearing. (McGraw-Hill Dictionary of Scientific and Technical Terms, 5th ed, p2001)
An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)
The anteriorly located rigid section of the PALATE.
A continuous protein fiber consisting primarily of FIBROINS. It is synthesized by a variety of INSECTS and ARACHNIDS.
A family of intercellular signaling proteins that play and important role in regulating the development of many TISSUES and organs. Their name derives from the observation of a hedgehog-like appearance in DROSOPHILA embryos with genetic mutations that block their action.
A SOXE transcription factor that plays a critical role in regulating CHONDROGENESIS; OSTEOGENESIS; and male sex determination. Loss of function of the SOX9 transcription factor due to genetic mutations is a cause of CAMPOMELIC DYSPLASIA.
The curve formed by the row of TEETH in their normal position in the JAW. The inferior dental arch is formed by the mandibular teeth, and the superior dental arch by the maxillary teeth.
Methods for maintaining or growing CELLS in vitro.
Ocular disorders attendant upon non-ocular disease or injury.
Restoration of integrity to traumatized tissue.
The development of new BLOOD VESSELS during the restoration of BLOOD CIRCULATION during the healing process.
Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
The species Oryctolagus cuniculus, in the family Leporidae, order LAGOMORPHA. Rabbits are born in burrows, furless, and with eyes and ears closed. In contrast with HARES, rabbits have 22 chromosome pairs.
Basic glycoprotein members of the SERPIN SUPERFAMILY that function as COLLAGEN-specific MOLECULAR CHAPERONES in the ENDOPLASMIC RETICULUM.
The anatomical frontal portion of the mandible, also known as the mentum, that contains the line of fusion of the two separate halves of the mandible (symphysis menti). This line of fusion divides inferiorly to enclose a triangular area called the mental protuberance. On each side, inferior to the second premolar tooth, is the mental foramen for the passage of blood vessels and a nerve.
The head of a long bone that is separated from the shaft by the epiphyseal plate until bone growth stops. At that time, the plate disappears and the head and shaft are united.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Artificial substitutes for body parts, and materials inserted into tissue for functional, cosmetic, or therapeutic purposes. Prostheses can be functional, as in the case of artificial arms and legs, or cosmetic, as in the case of an artificial eye. Implants, all surgically inserted or grafted into the body, tend to be used therapeutically. IMPLANTS, EXPERIMENTAL is available for those used experimentally.
A family of transcription factors that bind to the cofactor CORE BINDING FACTOR BETA SUBUNIT to form core binding factor. Family members contain a highly conserved DNA-binding domain known as the runt domain. They can act as both activators and repressors of expression of GENES involved in CELL DIFFERENTIATION and CELL CYCLE progression.
Experimentation on, or using the organs or tissues from, a human or other mammalian conceptus in the postembryonic period, after the major structures have been outlined. In humans, this corresponds to the period from the third month after fertilization until birth.
The magnitude of INBREEDING in humans.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
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 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 ...
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 = ...
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. 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 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, 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: ...
Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III. ... Although over 85% of osteogenesis imperfecta (OI) cases are associated with mutations in the procollagen type I genes (COL1A1 ... Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. Am J Med Genet A 164A: 1482-1489 ... Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple- ...
[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 ...
Analysis of COL1A1 gene mutation in an ethnic Han Chinese family from Henan affected with osteogenesis imperfecta / 中华医学遗传学杂志 ... To identify potential mutation of COL1A1 gene in an ethnic Han Chinese family from Henan affected with osteogenesis imperfecta ... Full text: Available Index: WPRIM (Western Pacific) Main subject: Osteogenesis Imperfecta / Pedigree / Female / Humans / Male ... Full text: Available Index: WPRIM (Western Pacific) Main subject: Osteogenesis Imperfecta / Pedigree / Female / Humans / Male ...
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 ...
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)
  • Although over 85% of osteogenesis imperfecta (OI) cases are associated with mutations in the procollagen type I genes (COL1A1 or COL1A2), no hot spots for the mutations were associated with particular clinical phenotypes. (edu.pl)
  • 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)
  • 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)
  • 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)
  • 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)
  • Pathogenic COL1A1 and COL1A2 variants are causative for ~90% of OI. (arupconsult.com)
  • COL1A1 and COL1A2 variants are autosomal dominant (AD), but variants in other causative genes may be autosomal recessive (AR), X-linked, or AD (see table of Genes Tested ). (arupconsult.com)
  • Dominant mutations in collagen I, encoded by COL1A1 and COL1A2, cause >90% of cases. (avhandlingar.se)
  • 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)
  • 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)
  • Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta. (whiterose.ac.uk)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Byers PH, Wallis GA, Willing MC (1991) Osteogenesis imperfecta: translation of mutation to phenotype. (edu.pl)
  • 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)
  • To identify potential mutation of COL1A1 gene in an ethnic Han Chinese family from Henan affected with osteogenesis imperfecta (OI). (bvsalud.org)
  • 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)
  • [ 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)
  • 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)
  • 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)
  • 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)
  • Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos synd. (genecards.org)
  • 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)
  • Osteogenesis imperfecta is the most common disorder caused by mutations in the COL1A1 gene. (medlineplus.gov)
  • [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)
  • 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)
  • 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)
  • 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)
  • Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene . (nih.gov)
  • 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)
  • 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)
  • 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)
  • To determine whether the functional Sp1 binding site polymorphism within intron 1 of the COL1A1 gene is associated specifically with ACL ruptures in an independent population. (bmj.com)
  • The TT genotype of the COL1A1 Sp1 binding site polymorphism was significantly under-represented in South African participants with ACL ruptures. (bmj.com)
  • 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)
  • COL1A1 is the only gene in which a pathogenic variant is known to cause Caffey disease. (nih.gov)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • The severity and phenotype vary widely depending on the type of osteogenesis imperfecta. (orthopaedia.com)
  • 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)
  • 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)
  • 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)
  • Mutations in the COL1A1 gene are associated with Osteogenesis, the Ehlers-Danlos syndrome and different types of cancers. (miltenyibiotec.com)
  • Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. (abnova.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)
  • 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)
  • 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)
  • 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)
  • Osteogenesis imperfecta (OI) is a congenital disorder characterized by increased bone fragility and low bone mass. (biomedcentral.com)
  • The classic "blue sclera" of osteogenesis imperfecta (courtesy Wikipedia). (orthopaedia.com)
  • 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)
  • 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)
  • 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)
  • Systematic follow-up of growing patients with COL1A1 haploinsufficiency mutations including radiographic screening for vertebral compression fractures and scoliosis is warranted. (cdc.gov)
  • Osteogenesis imperfecta is a genetic disorder that causes increased bone fractures and collagen defects. (wikipedia.org)
  • 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)
  • Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. (nih.gov)
  • There is bowing of limbs due to multiple fractures This disease (also called osteogenesis imperfecta congenita) is usually not compatible with life. (medicinenet.com)
  • Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. (nih.gov)
  • Osteogenesis imperfecta deals with fragile bones and increase risk of fractures easily. (healthtap.com)
  • 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)
  • Bidirectional Sanger sequencing detected an in-frame deletion in exon 44 of COL1A1 (c.3150_3158del), resulting in the deletion of three amino acids (p.Ala1053_Gly1055del) in the collagen triple helix. (ugent.be)
  • Most mutations that underlie OI occur within exon 50 of the COL1A1 gene (coding for protein constituents of type 1 pro-collagen). (bioscientifica.com)
  • T) was associated with the OI type I. The OI type III was associated with a single base change in I51 of COL1A1, possibly causing an exon skipping. (edu.pl)
  • G, p.I1398S) in exon 50 of the COL1A1 gene . (bvsalud.org)
  • Osteogenesis imperfecta type 6 has an autosomal recessive pattern of inheritance. (nih.gov)
  • what type of inheritance for osteogenesis imperfecta? (healthtap.com)
  • All exons and introns of the COL1A1 gene were amplified by polymerase chain reaction and subjected to direct sequencing. (bvsalud.org)
  • 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 (OI) type I is the mildest form of heritable bone fragility resulting from mutations within the COL1 A1 gene. (elsevier.com)
  • 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 (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)
  • Association of COL1A1 and otosclerosis: Evidence for a shared genetic etiology with mild osteogenesis imperfecta. (thefreedictionary.com)
  • a Mutational spectrum of COL1A1/2 mutations in Estonian OI patients. (cdc.gov)
  • 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)