Search results for "Rb1 gene"

showing 3 items of 3 documents

Autoimmune diseases and 8.1 ancestral haplotype: an update

2018

The aim of the present review is to provide an update of the current research into the pathogenesis of autoimmune diseases associated with 8.1 ancestral haplotype. This is a common Caucasoid haplotype carried by most people who type for HLA-B8, DR3. Numerous genetic studies reported that individuals with certain HLA alleles have a higher risk of specific autoimmune disorders than those without these alleles. However, much remains to be learned about the heritability of autoimmune conditions. Recently, progress and advances in the field of genome-wide-association studies have revolutionized the capacity to perform large, economically feasible, and statistically robust analyses of HLA within …

0301 basic medicineImmunologyHuman leukocyte antigenBiology8.1 ancestral haplotype03 medical and health sciences0302 clinical medicineHLA-DRB1 geneGeneticsHumansImmunology and Allergyautoimmune diseasesAlleleGeneGeneticsSettore MED/04 - Patologia GeneraleHaplotypeAutoantibodyHeritabilityautoantibodiePhenotypeGastrointestinal Microbiome030104 developmental biologyHaplotypes030211 gastroenterology & hepatologyHLA allele
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Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis.

2006

Variation in major histocompatibility complex genes on chromosome 6p21.3, specifically the human leukocyte antigen HLA-DR2 or DRB1*1501-DQB1*0602 extended haplotype, confers risk for multiple sclerosis (MS). Previous studies of DRB1 variation and both MS susceptibility and phenotypic expression have lacked statistical power to detect modest genotypic influences, and have demonstrated conflicting results. Results derived from analyses of 1339 MS families indicate DRB1 variation influences MS susceptibility in a complex manner. DRB1*15 was strongly associated in families (P=7.8x10(-31)), and a dominant DRB1*15 dose effect was confirmed (OR=7.5, 95% CI=4.4-13.0, P<0.0001). A modest dose effect…

Models MolecularMaleSequence Homologyimmune system diseasesModelsRisk FactorsDatabases GeneticAdult Alleles Amino Acid Sequence Databases; Genetic Female Genetic Variation Genotype HLA-DR Antigens; chemistry/genetics HLA-DRB1 Chains Humans Male Middle Aged Models; Molecular Molecular Sequence Data Multiple Sclerosis; Chronic Progressive; genetics/immunology Multiple Sclerosis; genetics/immunology Phenotype Risk Factors Sequence Homology; Amino Acidskin and connective tissue diseasesHLA-DRB1Genetics (clinical)GeneticsGeneral MedicineMultiple Sclerosis Chronic ProgressiveMiddle AgedAmino AcidChronic ProgressivePhenotypeFemalemusculoskeletal diseasesAdultMultiple SclerosisGenotypeMolecular Sequence DataLocus (genetics)Human leukocyte antigenBiologyDatabases. Alleles phenotype heterogeneity human leukocyte antigens age of onset chromosomes genes genotype haplotypesmultiple sclerosis relapsing-remitting genetics disability primary progressive multiple sclerosis hla-drb1 gene illness length severity of illnessGeneticGenetic variationGeneticsmedicineHumansAmino Acid SequenceAlleleMolecular BiologyAllelesSequence Homology Amino AcidMultiple sclerosisHaplotypeGenetic VariationMolecularHLA-DR Antigensmedicine.diseasegenetics/immunologychemistry/geneticsImmunologyAge of onsetHLA-DRB1 Chains
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Retinoblastoma: History of His Identification, Characterization and Treatment

2015

The first description of a tumor resembling retinoblastoma (RB) was provided on 1597 by Pieter Pauw, who described a malignancy invading the orbit, the temporal region, and the cranium, filled with a "substance similar to brain tissue mixed with thick blood and like crushed stone". Since then, a number of retinal tumors were described and named until the 1922 when Verhoeff called these tumors RB, a term that the American Ophthalmological Society adopted in 1926. In 1971 Knudson focused on RB, and proposed his ‘two-hit’ theory of the molecular etiology of RB. In 1986, the RB1 gene was identified and the ‘two-hit’ theory of Knudson was validated. Successively, new studies in developing retina…

Retinoblastomabusiness.industrymedicineCancer researchRetinoblastoma pediatric cancer RB1 gene retinoblastoma inheritance retinoblastoma therapyRb1 geneIdentification (biology)medicine.diseasebusinessPediatric cancer
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