Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Joyce M. Rapaport"'
Autor:
Joyce M. Rapaport, Takafumi Matsumura, Shigeru Kinoshita, Masao S. Sasaki, Tsuyoshi Fujita, Kanji Ishizaki, Bernhard Horsthemke, Toshiyuki Sakai, Kyohei Hayashi, Kensei Minoda, Rei Takahashi, Naoko Ohtani-Fujita, Mitsuo Kato, Yoshitaka Ohnishi, Satoshi Matsumura, Yoshiyuki Watanabe, Thaddeus P. Dryja, Kotaro Ozasa, Koshi Maeda, Yoshihiro Hotta
Publikováno v:
Cancer Genetics and Cytogenetics. 98:43-49
We previously reported 9 unilateral, sporadic retinoblastomas with hypermethylation in the 5' region of the RB gene, and we found that CpG methylation in the RB promoter inhibits the binding of the retinoblastoma binding factor 1 (RBF-1) and the acti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26cc40f089d030908a1af15d71f9e058
https://doi.org/10.1016/s0165-4608(96)00395-0
https://doi.org/10.1016/s0165-4608(96)00395-0
Autor:
Naoko Ohtani-Fujita, Masao S. Sasaki, Koshi Maeda, Thaddeus P. Dryja, Tsuyoshi Fujita, Kensei Minoda, Kanji Ishizaki, Yoshitaka Ohnishi, Mitsuo Kato, Shigeru Kinoshita, Yoshihiro Hotta, Toshiyuki Sakai, Joyce M. Rapaport
Publikováno v:
Human mutation. 13(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcb6a71354c0b2305d366cb49a9cbe1b
https://pubmed.ncbi.nlm.nih.gov/10338096
https://pubmed.ncbi.nlm.nih.gov/10338096
Publikováno v:
Human genetics. 100(3-4)
New germline mutations in the human retinoblastoma gene are known to arise preferentially on paternally derived chromosomes, but the magnitude of that bias has not been measured. We evaluated 49 cases with a new germline mutation and found that in 40
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d5fd4f6193b354a5737528d05f98f85
https://pubmed.ncbi.nlm.nih.gov/9272170
https://pubmed.ncbi.nlm.nih.gov/9272170
Autor:
Joyce M. Rapaport, Manfred Schartl, Emil Bogenmann, Thaddeus P. Dryja, Stephen H. Friend, Monica R. Gerber, René Bernards, Robert A. Weinberg, Gregory M. Shackleford, Terry McGee, Jonathan M. Horowitz
Publikováno v:
Proceedings of the National Academy of Sciences. 103:1656-1656
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa7a90836e252f97bc1d902b5c454a66
https://doi.org/10.1073/pnas.0510340102
https://doi.org/10.1073/pnas.0510340102
Publikováno v:
Retina. 14:93
In one family with low-penetrance retinoblastoma, a germ-line deletion is shared by affected and unaffected, obligate carriers. The deletion encompasses exon 4 of the retinoblastoma gene and corresponds to a mutant protein without residues 127-166. I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8206c7ca3a9acece11d1d14b175c350e
https://doi.org/10.1097/00006982-199401000-00030
https://doi.org/10.1097/00006982-199401000-00030
Publikováno v:
Proceedings of the National Academy of Sciences. 83:7391-7394
DNA fragments from a locus spanning 29 kilobases within chromosome band 13q14 detected deletions in 3 retinoblastomas out of 37 such tumors examined. Somatically occurring, homozygous deletions spanning at least 25 kilobases were detected in retinobl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::483ddcbb7ac86c3e731e0a9adc07e0b1
https://doi.org/10.1073/pnas.83.19.7391
https://doi.org/10.1073/pnas.83.19.7391
Autor:
Raymond L. White, Webster K. Cavenee, Thaddeus P. Dryja, Joyce M. Rapaport, Robert A. Petersen, Daniel M. Albert, Gail A. P. Bruns
Publikováno v:
New England Journal of Medicine. 310:550-553
We studied the frequency of chromosome 13 homozygosity in tumor tissue obtained directly from eyes harboring retinoblastomas. The data indicate that approximately half of all retinoblastomas are homozygous for large portions of 13q, that the homozygo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c3f17020564edc6085965b20d8d33f1
https://doi.org/10.1056/nejm198403013100902
https://doi.org/10.1056/nejm198403013100902
Publikováno v:
American journal of ophthalmology. 97(6)
Determinations of esterase D isoenzymes in the members of a family with hereditary retinoblastoma gave results consistent with linkage between the loci for esterase D and retinoblastoma. This gene linkage allows the detection of gene carrier states i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f57a5619a6de04069e9fb0326c9a7ec1
https://pubmed.ncbi.nlm.nih.gov/6731533
https://pubmed.ncbi.nlm.nih.gov/6731533
Autor:
Valerie Grondin, David W. Yandell, Magnus Nordenskjöld, Janey L. Wiggs, Ruth Liberfarb, Klaus Riedel, Alan W. Craft, Robert A. Petersen, Barbro Werelius, Thaddeus P. Dryja, William R. Wilson, David Walton, Marie Janson, Joyce M. Rapaport
Publikováno v:
The New England journal of medicine. 318(3)
Using molecular cloning, we earlier isolated the "retinoblastoma gene"; mutations or deletions at this locus are associated with the hereditary predisposition to some human cancers, especially retinoblastoma and osteosarcoma. To develop diagnostic te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c795cf331c7fba01332474d9b79c550f
https://pubmed.ncbi.nlm.nih.gov/2892131
https://pubmed.ncbi.nlm.nih.gov/2892131
Autor:
Thaddeus P. Dryja, David S. Walton, Shizuo Mukai, Robert A. Petersen, David W. Yandell, Joyce M. Rapaport
Publikováno v:
Nature. 339(6225)
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 ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3051949ed4270a7284d976b0c1b43ca3
https://pubmed.ncbi.nlm.nih.gov/2733786
https://pubmed.ncbi.nlm.nih.gov/2733786