Results 201 to 210 of about 2,134,276 (240)

Molecular characterization of the retinoblastoma susceptibility gene

Biochimica et Biophysica Acta (BBA) - Reviews on Cancer, 1993
Retinoblastoma is recognized as a hereditary cancer. Genetic and epidemiological analysis of the disease has been incorporated into a two-hit mutational inactivation hypothesis of the origin of retinoblastoma. The molecular cloning and characterization of the retinoblastoma gene and gene product has allowed a critical testing of this two-hit hypothesis.
D W, Goodrich, W H, Lee
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Structure and expression of the Xenopus retinoblastoma gene

Developmental Biology, 1992
We have cloned a Xenopus homology (XRb1) of the human retinoblastoma susceptibility gene. DNA sequence analysis shows that the XRb1 gene product is highly conserved in many regions. The leucine repeat motif and many of the potential cdc2 phosphorylation sites, as well as potential sites for other kinases, are retained.
O H, Destrée, K T, Lam, L J, Peterson-Maduro, K, Eizema, L, Diller, M A, Gryka, T, Frebourg, E, Shibuya, S H, Friend   +8 more
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Identification of Mutations in the Retinoblastoma Gene

2003
Mutations in the retinoblastoma gene (RBl) predispose to the formation of ocular tumors. Following the cloning of RBI in 1986 (1), polymorphic restriction enzyme sites within RBl were used to "track" the mutant gene within affected families using linkage analysis (2, 3).
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The gene responsible for the development of retinoblastoma and osteosarcoma

Cancer, 1988
The gene responsible for the formation of both retinoblastoma and osteosarcoma recently has been isolated. This represents the first human recessive cancer gene ever cloned. Structural deletions within one or both retinoblastoma gene alleles were commonly noted in the retinoblastomas and an osteosarcoma.
W F, Benedict, Y K, Fung, A L, Murphree
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Regulation of the Urokinase Gene by the Retinoblastoma Protein

DNA and Cell Biology, 1994
The promoter of the human urokinase plasminogen activator (uPA) gene contains a sequence identical with the retinoblastoma control element (RCE) of the murine c-fos gene, as well as several Sp1 binding sites. In a number of cell lines, the uPA promoter is activated during enforced expression of the retinoblastoma protein, pRB.
U, Novak, L, Paradiso, J A, Hamilton
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Parental origin of mutations of the retinoblastoma gene

Nature, 1989
Retinoblastoma and osteosarcoma arise from cells that have lost both functional copies of the retinoblastoma gene. Using the cloned retinoblastoma gene and other linked polymorphic loci, it is possible to reconstruct the sequential loss of the two homologous gene copies that precedes the development of these tumours. In non-hereditary tumours, the loss
T P, Dryja, S, Mukai, R, Petersen, J M, Rapaport, D, Walton, D W, Yandell   +5 more
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The role of the retinoblastoma gene in tumour pathogenesis

Clinical Oncology, 1992
Retinoblastoma is a rare tumour. The gene involved in the formation of retinoblastoma has been identified, and it has since been shown to be implicated in many other tumour types. In addition, patients with the familial form of retinoblastoma are known to be at an increased risk of developing second primary, non-ocular, malignancies.
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Molecular biology of the human retinoblastoma gene

1989
The notion that genetic damage is the underlying cause of cancer comes from two apparently contradictory lines of evidence on the nature of carcinogenesis. On the one hand, many genomic changes found in malignant cells, such as point mutations, amplification, translocation, and various other rearrangements induced chemically or by retroviruses, have ...
Y K, Fung, A, T'ang, T L, Thompson
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Retinoblastoma gene in mouse neural development

Developmental Genetics, 1996
The retinoblastoma gene (Rb) was the first tumor suppressor gene to be cloned [Dryja et al., 1986; Friend et al., 1986; Lee et al., 1987], and, as a consequence, has been studied intensively within the context of cell cycle regulation and oncogenesis. However, a number of recent findings indicate that the retinoblastoma gene product (pRb) likely plays ...
R S, Slack, F D, Miller
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[From gene to disease; retinoblastoma and the RB1 gene].

Nederlands tijdschrift voor geneeskunde, 2001
Retinoblastoma is caused by mutations in the RB1 gene. The penetrance is 95%, as in approximately 5% of the mutation carriers, no second somatic mutation occurs in one of their retina cells during embryonic development. Molecular diagnosis is performed by a complete scanning of the RB1 coding sequence which includes flanking intronic sequences ...
Scheffer, H., Imhof, S.M., Moll, A.C.
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