RB1 (retinoblastoma)

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RB1 gene inactivation by chromothripsis in human retinoblastoma

Retinoblastoma is a rare childhood cancer of the developing retina. Most retinoblastomas initiate with biallelic inactivation of the RB1 gene through diverse mechanisms including point mutations, nucleotide insertions, deletions, loss of heterozygosity and promoter hypermethylation. Recently, a novel mechanism of retinoblastoma initiation was proposed. Gallie and colleagues discovered that a sm...

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Uncommon RB1 somatic mutations in a unilateral retinoblastoma patient.

Retinoblastoma (RB) is the most common primary intraocular malignancy in children. Somatic inactivation of both alleles of the RB1 tumor suppressor gene in a developing retina is a crucial event in the initiation of tumorigenesis in most cases of isolated unilateral retinoblastoma. We analyzed the DNA from tumor tissue and peripheral blood of a unilateral retinoblastoma patient to determine the...

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Functional Expression of P2Y Receptors in WERI-Rb1 Retinoblastoma Cells.

P2Y receptors are metabotropic G-protein-coupled receptors, which are involved in many important biologic functions in the central nervous system including retina. Subtypes of P2Y receptors in retinal tissue vary according to the species and the cell types. We examined the molecular and pharmacologic profiles of P2Y purinoceptors in retinoblastoma cell, which has not been identified yet. To ach...

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RB116: An RB1+ retinoblastoma cell line expressing primitive markers

PURPOSE Retinoblastoma (RB), an intraocular tumor of childhood, is commonly associated with mutations in the RB1 gene. RB116 is a novel, early passage RB cell line that has not been previously characterized. In this study, we examined RB116 for the expression of RB1 and tested the hypothesis that RB116 cells would express stem cell markers as well as retinal progenitor cell markers. We compared...

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A Review of Outstanding Retinoblastoma Researches on RB1 Genes: Focus on Treatment by Non-ionizing and Ionizing Radiation

Introduction: Retinoblastoma (RB) is a malignant retinal tumor, which affects infants and children. This cancer happens through a mutation in the retinoblastoma tumor suppressor genes (RB1). Inactivation of RB1 has been observed in more than 97% of all retinoblastoma patients with mutations. In recent years, RB treatment has developed significantly. RBchr('39')s treatment methods can be one or ...

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ژورنال

عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology

سال: 2011

ISSN: 1768-3262

DOI: 10.4267/2042/37533