Search results for "Transforming Growth Factor beta1"

showing 2 items of 72 documents

Clinical and genetic update of corneal dystrophies.

2019

The International Committee for Classification of Corneal Dystrophies (IC3D) distinguishes between 22 distinct forms of corneal dystrophy which are predominantly autosomal dominant, although autosomal recessive and X-chromosomal dominant patterns do exist. Before any genetic examination, there should be documentation of a detailed corneal exam of as many affected and unaffected family members as possible, because detailed phenotypic description is essential for accurate diagnosis. Corneal documentation should be performed in direct and indirect illumination at the slit lamp with the pharmacologically dilated pupil. For the majority of the corneal dystrophies, a phenotype-genotype correlatio…

medicine.medical_specialtygenetic structuresGenetic ExaminationCorneal dystrophyCollagen Type ITransforming Growth Factor beta1Cellular and Molecular NeuroscienceCorneaOphthalmologyGenotypemedicineHumansGenetic Predisposition to DiseaseCorneal Dystrophies Hereditarybusiness.industryEpithelium Cornealmedicine.diseasePhenotypeeye diseasesSensory SystemsCollagen Type I alpha 1 ChainOphthalmologyEpithelial recurrent erosion dystrophymedicine.anatomical_structuresense organsDifferential diagnosisbusinessTGFBIExperimental eye research
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Frequency of polymorphisms of signal peptide of TGF-beta1 and -1082G/A SNP at the promoter region of Il-10 gene in patients with carotid stenosis

2006

The role of inflammation in atherosclerosis is well recognized. We have evaluated the allele frequencies of the +869T/C and +915G/C polymorphisms (SNPs) at the TGF-beta1 gene and -1082G/A SNP at IL-10 promoter sequence, two well-known immunosuppressive and anti-inflammatory cytokines, in patients with carotid stenosis. Our data suggest a lack of association between these SNPs and the susceptibility to atherosclerosis although other reports have demonstrated this association. These results may be due to the pleiotropic effects of the cytokines and/or differences in haplotype combination that should be investigated to elucidate the role of TGF-beta1 and IL-10 polymorphisms in atherosclerosis.

medicine.medical_treatmentSNPSingle-nucleotide polymorphismInflammationProtein Sorting SignalsBioinformaticsPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyTransforming Growth Factor beta1atherosclerosiHistory and Philosophy of ScienceGene FrequencyPolymorphism (computer science)Transforming Growth Factor betacytokineMedicineSNPHumansCarotid StenosisPromoter Regions GeneticAllele frequencyAgedAged 80 and overPolymorphism Geneticbusiness.industryGeneral NeuroscienceHaplotypePromoterSequence Analysis DNAMiddle AgedInterleukin-10carotid stenosiCytokineImmunologyIL-10medicine.symptombusinessTGF-beta 1
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