In the late 1980s, structural mutations in collagen II were shown to cause achondrogenesis type II, which thus constitutes the severe end of the spectrum of collagen II chondrodysplasias. (medscape.com)
Characterized by dominant gene mutations in collagen type 1 that are spontaneous, children who stay alive in the neonatal period are prone to OI Type III. (giachinoplasticsurgery.com)
Synthesis1
In addition, a decrease in collagen synthesis has been reported from anabolic steroid administration in rats (Karpakka et al, https://alpi3203.soup.io/ . (zendesk.com)
Diseases caused by germline mosaicism can be difficult to diagnose as genetically-inherited because the mutant alleles are not likely to be present in the somatic cells. (wikipedia.org)
If the disease is a result of pure germline mosaicism, then the disease causing mutant allele would never be present in the somatic cells. (wikipedia.org)
In the paper Germline and somatic mosaicism in transgenic mice published in 1986, Thomas M.Wilkie, Ralph L.Brinster, and Richard D.Palmiter analyzed a germline mosaicism experiment done on 262 transgenic mice and concluded that 30% of founder transgenic mice are mosaic in the germline. (wikipedia.org)
Revertant mosaicism is a naturally occurring phenomenon involving spontaneous correction of a pathogenic gene mutation in a somatic cell. (elsevierpure.com)
Somatic mosaicism for TSC-2 mutations within the lungs and kidneys results in foci of disease superimposed against a background of normal cells within these tissues (although multiple discrete sites of disease might be expected). (msdmanuals.com)
Revertant2
These revertant iPSCs were then differentiated into naturally genetically corrected keratinocytes that expressed type XVII collagen (Col17). (elsevierpure.com)
That said, diverging from Mendelian gene inheritance patterns, a parent with a recessive allele can produce offspring expressing the phenotype as dominant through germline mosaicism. (wikipedia.org)
Type IB is caused by recessive mutations of the diastrophic dysplasia sulfate transporter gene (SLC26A2), and type II is caused by autosomal dominant mutations of the type II collagen gene (COL2A1). (medscape.com)
Several heritable osteochondrodysplasias have now been recognized as members of the family of type II collagen disorders, all of which result from dominant mutations in the COL2A1 gene. (medscape.com)
New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter. (hiroshima-u.ac.jp)
This gene provides instructions for making a protein that forms type II collagen. (medlineplus.gov)
Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly. (medlineplus.gov)
A majority of patients with OI have a mutation in either the COL1A1 or COL1A2 gene, which are the genes that code for alpha 1 and alpha 2 chains of collagen type I. Mutations in COL1A1 and COL1A2 are associated with autosomal dominant inheritance, and can present with a wide phenotypic spectrum from perinatal lethality to mild predisposition to fractures. (ohsu.edu)
Examples of autosomal dominant disorders include Huntington disease Opens in new window (triplet nucleotide repeats), osteogenesis imperfect (mutations in the collagen gene), and familial hypercholesterolemia (mutations in the receptor for very-low-density lipoproteins). (viquepedia.com)
Alterations3
Germline mosaicism can be caused either by a mutation that occurs after conception, or by epigenetic regulation, alterations to DNA such as methylation that do not involve changes in the DNA coding sequence. (wikipedia.org)
The model can detect copy changes at a resolution of three (3) or more probe targets (exons) for deletions and duplications in genes that do not have pseudogenes, and is not designed to detect low-level mosaicism or balanced alterations. (ohsu.edu)
Alterations in the spacing of collagen fibrils in a variety of conditions including corneal edema, scars, and macular corneal dystrophy is clinically manifested as corneal opacity. (mdwiki.org)
Recessive1
The Collagen Diagnostic Lab currently offers an OI and Genetic Bone Disorders Panel of 30 genes (including COL1A1 and COL1A2 ) which encompasses dominant, recessive, and X-linked forms of OI, hypophosphatasia, and other bone fragility phenotypes that overlap with OI. (uwcpdx.org)
Dermis2
The area beneath the collagen-rich dermis that is characterized by subcutaneous adipose tissue with a role in energy balance, as well as recently defined roles in epidermis crosstalk and immune surveillance. (mhmedical.com)
Histopathological findings included characteristic holes in stratum corneum and superficial dermis, thick collagen bundles perpendicular to the skin surface with loss of elastic tissue, focal interface changes, and triangular focus of fibroblastic proliferation. (cu.edu.eg)
Chromosomal1
A new mutation may explain the few reported cases in boys and chromosomal mosaicism has been proposed as well. (tripod.com)
Dominant4
Germline mosaicism disorders are usually inherited in a pattern that suggests that the condition is dominant in either or both of the parents. (wikipedia.org)
Autosomal dominant or X-linked familial disorders often prompt prenatal testing for germline mosaicism. (wikipedia.org)
About 95% of the pathogenic variants found in individuals with OI are found in the two type I collagen genes, COL1A1 and COL1A2 and account for all but a few of the dominant forms of OI. (uwcpdx.org)
Because a 50% loss of enzymes activity can be compensated for, involved genes in autosomal dominant disorders usually do not encode enzyme proteins, but instead fall into two other categories of proteins: (1) those involved in regulation of complex metabolic pathways, (2) key structural proteins, such as collagen and cytoskeletal components of the red cell membrane. (viquepedia.com)
COL1A11
About 95% of individuals with OI (perinatal lethal and non-lethal) that we have characterized are heterozygous for a pathogenic variant in one of the two type I collagen genes ( COL1A1 and COL1A2 ). (uwcpdx.org)
As type I collagen is reduced in the bone matrix, many long-bone fractures can occur while the degree of fragility of the bone and the rate of fracture rate may vary significantly. (giachinoplasticsurgery.com)
We previously described a group of patients initially classified with OI type IV who had a discrete phenotype including hyperplastic callus formation without evidence of mutations in type I collagen. (wiley.com)
Mutation screening of the coding regions and exon/intron boundaries of both collagen type I genes did not reveal any mutations, and type I collagen protein analyses were normal. (wiley.com)
Recurrence1
The recurrence rate of conditions caused by germline mosaicism varies greatly between subjects. (wikipedia.org)
Osteogenesis1
With such mutation within the gamete cells, a pair of medically typical individuals may have repeated succession of children who suffer from certain genetic disorders such as Duchenne muscular dystrophy and osteogenesis imperfecta because of germline mosaicism. (wikipedia.org)
Immunodeficiency1
It has been suggested that endogenous factors might contribute to the rapid progression of periodontal breakdown such as inappropriate regulation of enzymes, lipid mediators, collagen biosynthesis or T cell immunodeficiency. (bvsalud.org)
Proportional1
Studies in mice have suggested that anabolic steroids may lead to degeneration of collagen (proportional to duration of steroid administration) and potentially lead to a decrease in tensile strength (Michna, 1986). (zendesk.com)
Disorders1
Overview of Interstitial Lung Disease Interstitial lung diseases are a heterogeneous group of disorders characterized by alveolar septal thickening, fibroblast proliferation, collagen deposition, and, if the process remains unchecked. (msdmanuals.com)
Stickler syndrome (OMIM 108300 , 604841 , 184840 ) is a common hereditary connective tissue disorder of fibrillar collagen. (molvis.org)
Receptor1
G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination. (harvard.edu)
Simultaneously1
It is also activated through plasma prekallikrein and coagulation factor XIIa which activate plasma kallikrein, which then pairs with coagulation factor XII simultaneously with the previous collagen chain pairing to activate coagulation XIIa. (smpdb.ca)
Genetic3
Germline mosaicism may contribute to the inheritance of many genetic conditions. (wikipedia.org)
The Collagen Diagnostic Lab has traditionally recommended a tiered approach to establishing a genetic diagnosis of OI. (uwcpdx.org)
Chimerism or Mosaicism: During development, the emergence of genetic mutations in an otherwise normal animal which create distinct lineages of mutant cells or clones. (mhmedical.com)
Patients2
METHODS: We evaluated clinical and muscle MRI changes in patients with mutations in the rod domain of MYH7, including 1 with mosaicism and 3 with novel missense mutations. (hal.science)
Most patients demonstrated internal bands of infiltration ("inverted-collagen-VI sign") in multiple muscles, particularly the soleus, and prominent atrophy and fatty infiltration of the tongue and the paraspinal, gluteus minimus, sartorius, gracilis, tibialis anterior, and extensor digitorum longus muscles. (hal.science)
Cases1
The remaining cases are due translocation, mosaicism and partial trisomy of the chromosome 21. (bvsalud.org)
Conditions1
Conditions that are inherited by means of germline mosaicism are often mistaken as being the result of de novo mutations. (wikipedia.org)
Cell1
Coagulation factor XIIa is introduced through chain of activation starting in the endothelial cell with collagen alpha-1 (I) chain, which paired with coagulation factor XII activates coagulation factor XIIa. (smpdb.ca)