Zobrazeno 1 - 10
of 477
pro vyhledávání: '"H. Joenje"'
Autor:
C. J. Hess, N. Ameziane, G. J. Schuurhuis, A. Errami, F. Denkers, G. J. L. Kaspers, J. Cloos, H. Joenje, D. Reinhardt, G. J. Ossenkoppele, C. M. Zwaan, Q. Waisfisz
Publikováno v:
Cellular Oncology, Vol 30, Iss 4, Pp 299-306 (2008)
Objective: Inactivation of the FA-BRCA pathway results in chromosomal instability. Fanconi anaemia (FA) patients have an inherited defect in this pathway and are strongly predisposed to the development of acute myeloid leukaemia (AML). Studies in spo
Externí odkaz:
https://doaj.org/article/93ab040d3a0646af9e9ac38a739bc342
Akademický článek
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Autor:
H Joenje, Detlev Schindler, E. T. Korthof, Thomas Bettecken, Beatrice Schuster, Anneke B. Oostra, J.P. de Winter, Karolina Hain, A. W. M. Nieuwint, Chantal Stoepker, Yvonne Hilhorst-Hofstee, Katharina Eirich, Nicolaas G. J. Jaspers, Martin A. Rooimans, John Rouse, Jurgen Steltenpool
Publikováno v:
Nature Genetics, 43(2), 138-U85
Nature Genetics, 43(2), 138-141. Nature Publishing Group
Stoepker, C, Hain, K, Schuster, B, Hilhorst-Hofstee, Y, Rooimans, M A, Steltenpool, J, Oostra, A B, Eirich, K, Korthof, E T, Nieuwint, A W M, Jaspers, N G J, Bettecken, T, Joenje, H, Schindler, D, Rouse, J & de Winter, J P 2011, ' SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype ', Nature Genetics, vol. 43, no. 2, pp. 138-141 . https://doi.org/10.1038/ng.751
Nature Genetics, 43(2), 138-U85. Nature Publishing Group
Nature Genetics, 43(2), 138-141. Nature Publishing Group
Stoepker, C, Hain, K, Schuster, B, Hilhorst-Hofstee, Y, Rooimans, M A, Steltenpool, J, Oostra, A B, Eirich, K, Korthof, E T, Nieuwint, A W M, Jaspers, N G J, Bettecken, T, Joenje, H, Schindler, D, Rouse, J & de Winter, J P 2011, ' SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype ', Nature Genetics, vol. 43, no. 2, pp. 138-141 . https://doi.org/10.1038/ng.751
Nature Genetics, 43(2), 138-U85. Nature Publishing Group
DNA interstrand crosslink repair requires several classes of proteins, including structure-specific endonucleases and Fanconi anemia proteins. SLX4, which coordinates three separate endonucleases, was recently recognized as an important regulator of
Autor:
Juan A. Bueren, José A. Casado, Paula Río, Jesus Martinez, Helmut Hanenberg, Kerstin Göttsche, José C. Segovia, Ngan Ching Cheng, H Joenje, Fré Arwert, Henri J. van de Vrugt
Publikováno v:
ResearcherID
Europe PubMed Central
Europe PubMed Central
Fanconi anemia (FA) is a rare autosomal recessive disease, characterized by bone marrow failure and cancer predisposition. So far, 8 complementation groups have been identified, although mutations in FANCA account for the disease in the majority of F
Autor:
H Joenje, Anneke B. Oostra, Fré Arwert, Małgorzata Z. Zdzienicka, Barbara C. Godthelp, Martin van der Valk, Ngan Ching Cheng, Mireille Koomen, Henri J. van de Vrugt
Publikováno v:
Human Molecular Genetics. 11:273-281
Fanconi anemia (FA) is a heterogeneous autosomal recessive chromosomal instability syndrome associated with diverse developmental abnormalities, progressive bone marrow failure and a predisposition to cancer. Spontaneous chromosomal breakage and hype
Autor:
H Joenje, Stander Jansen, Rachel A. Gibson, Charmaine Havenga, Neil V. Morgan, Eliane Gluckman, Alex J. Tipping, Thomas Pearson, Christopher G. Mathew, L P Kuyt, T. De Ravel
Publikováno v:
Proceedings of the National Academy of Sciences. 98:5734-5739
Fanconi anemia (FA) is a rare, genetically heterogeneous autosomal recessive disorder associated with progressive aplastic anemia, congenital abnormalities, and cancer. FA has a very high incidence in the Afrikaner population of South Africa, possibl
Publikováno v:
Growth Hormone & IGF Research. 10:290-293
Fanconi's anaemia (FA) shows great variability in phenotypic symptoms. We report on two FA siblings of German ancestry with the very rare form of the complementation group FA-D. Both presented with a similar phenotype and mild disease severity but wi
Autor:
GR Evans, H Joenje, Fré Arwert, Martin Digweed, Cigdem Altay, R. D. Wegner, Neil V. Morgan, André Reis, Kathrin Saar, Christopher G. Mathew, Quinten Waisfisz, J. de Winter, Peter A. J. Leegwater, Kenshi Komatsu, Jan C. Pronk
Publikováno v:
American journal of human genetics, 64(5), 1400-1405. Cell Press
Waisfisz, Q, Altay, C, Leegwater, PA, de Winter, JP, Komatsu, K, Evans, GR, Wegner, RD, Reis, A, Joenje, H, Arwert, F, Mathew, CG, Pronk, JC, Saar, K, Morgan, NV & Digweed, M 1999, ' The Fanconi anemia group E gene, FANCE, maps to chromosome 6p ', American journal of human genetics, vol. 64, no. 5, pp. 1400-1405 . https://doi.org/10.1086/302385
Waisfisz, Q, Altay, C, Leegwater, PA, de Winter, JP, Komatsu, K, Evans, GR, Wegner, RD, Reis, A, Joenje, H, Arwert, F, Mathew, CG, Pronk, JC, Saar, K, Morgan, NV & Digweed, M 1999, ' The Fanconi anemia group E gene, FANCE, maps to chromosome 6p ', American journal of human genetics, vol. 64, no. 5, pp. 1400-1405 . https://doi.org/10.1086/302385
SummaryFanconi anemia (FA) is a genetically heterogeneous autosomal recessive disease with bone marrow failure and predisposition to cancer as major features, often accompanied by developmental anomalies. The cells of patients with FA are hypersensit
Autor:
J.P. de Winter, H. Joenje
Publikováno v:
Brenner's Encyclopedia of Genetics: Second Edition, 17-20
STARTPAGE=17;ENDPAGE=20;TITLE=Brenner's Encyclopedia of Genetics: Second Edition
de Winter, J P & Joenje, H 2013, Fanconi Anemia . in Brenner's Encyclopedia of Genetics: Second Edition . Brenner's Encyclopedia of Genetics: Second Edition, Elsevier Inc., pp. 17-20 . https://doi.org/10.1016/B978-0-12-374984-0.00518-0
STARTPAGE=17;ENDPAGE=20;TITLE=Brenner's Encyclopedia of Genetics: Second Edition
de Winter, J P & Joenje, H 2013, Fanconi Anemia . in Brenner's Encyclopedia of Genetics: Second Edition . Brenner's Encyclopedia of Genetics: Second Edition, Elsevier Inc., pp. 17-20 . https://doi.org/10.1016/B978-0-12-374984-0.00518-0
Fanconi anemia (FA) is a recessively inherited disorder associated with developmental abnormalities, progressive bone marrow failure (aplastic anemia), and a high incidence of malignancies, which cause a strongly reduced life expectancy. The anemia c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ff2c524fede5ee4aab0eeca5e1c384e
https://research.vumc.nl/en/publications/72e7bc2c-5117-4790-9ee0-39b74053b29f
https://research.vumc.nl/en/publications/72e7bc2c-5117-4790-9ee0-39b74053b29f
Autor:
Markus Grompe, H Joenje, Cristin Corless, Alan D. D'Andrea, Takayuki Yamashita, Nan Wu, Gary M. Kupfer
Publikováno v:
Scopus-Elsevier
Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital anomalies, aplastic anemia, and cancer susceptibility. Mutations within the FA complementation group C (FAC) gene account for approximately 14% of diagnosed FA cases. T