Zobrazeno 1 - 10
of 113
pro vyhledávání: '"Manuel Buchwald"'
Publikováno v:
Transgenic Research. 14:333-336
Cat eye syndrome is a rare developmental defect associated with duplication of chromosome 22q11. The patients demonstrate specific abnormalities of heart, kidney, and eye. Here we attempted to produce a model for this defect by expressing CECR1 adeno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c252f649aa027565976d37ee7587fd4
https://doi.org/10.1007/s11248-005-1174-2
https://doi.org/10.1007/s11248-005-1174-2
Publikováno v:
Human Molecular Genetics. 12:2063-2076
Fanconi Anemia (FA) is an autosomal recessive disorder characterized by cellular hypersensitivity to DNA cross-linking agents. Recent studies suggest that FA proteins share a common pathway with BRCA proteins. To study the in vivo role of the FA grou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da3242d6e3a01fd15b7969fc2faaa9c6
https://doi.org/10.1093/hmg/ddg219
https://doi.org/10.1093/hmg/ddg219
Autor:
Susan M. Gordon, Manuel Buchwald
Publikováno v:
Blood. 102:136-141
Fanconi anemia (FA) is an autosomal recessive syndrome characterized by progressive bone marrow failure and cancer predisposition. Eight FA complementation groups have been identified. The FANCA, FANCC, FANCE, FANCF, and FANCG proteins form a nuclear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b93449da4996b3d8d9ff00488e66f7a
https://doi.org/10.1182/blood-2002-11-3517
https://doi.org/10.1182/blood-2002-11-3517
Autor:
John W. Chamberlain, Marco Schito, Manuel Buchwald, Zhan Lu, Steven H. Borenstein, Yongping Yang, Colin McKerlie
Publikováno v:
Journal of Virology. 76:8910-8919
Little is known about the biological significance of human adenovirus type 5 (Ad5) E1A in vivo. However, Ad5 E1A is well defined in vitro and can be detected frequently in the lungs of patients with pulmonary disease. Transgenic expression of the Ad5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3880baad8a92040339ea9872c190b1d
https://doi.org/10.1128/jvi.76.17.8910-8919.2002
https://doi.org/10.1128/jvi.76.17.8910-8919.2002
Publikováno v:
Molecular Therapy. 2(4):359-367
Targeting therapeutic gene expression to disease-affected tissues is an essential component of effective and safe gene therapy. After birth, CFTR gene expression in human lungs is localized predominantly in the epithelial cells lining the upper airwa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e012cea2be2ec2540d7c12953faa054
Autor:
Jasmine C. Wong, Koenraad Norga, Hagop Youssoufian, Frank A.E. Kruyt, Noa Alon, Manuel Buchwald
Publikováno v:
GENOMICS, 67(3), 273-283. ACADEMIC PRESS INC ELSEVIER SCIENCE
Despite the cloning of four disease-associated genes for Fanconi anemia (FA), the molecular pathogenesis of FA remains largely unknown. To study FA complementation group A using the mouse as a mode I system, we cloned and characterized the mouse homo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1389fe5496b97527cd80b05fcb184b95
https://research.rug.nl/en/publications/afa64077-3b1d-49ef-89a5-f0c3e3a3de3e
https://research.rug.nl/en/publications/afa64077-3b1d-49ef-89a5-f0c3e3a3de3e
Autor:
S. Phan, Polly Brinkman-Mills, Shinsei Minoshima, Bruce A. Roe, Manuel Buchwald, M. A. Riazi, Y. Shimizu, J. Tochigi, Thuan Nguyen, Huaqin Pan, Heather E. McDermid, Fu Ying, Nobuyoshi Shimizu
Publikováno v:
Genomics. 64:277-285
Cat eye syndrome (CES) is a developmental disorder with multiple organ involvement, associated with the duplication of a 2-Mb region of 22q11.2. Using exon trapping and genomic sequence analysis, we have isolated and characterized a gene, CECR1, that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc31ad1ac8f6d90068ae81368b9aa022
https://doi.org/10.1006/geno.1999.6099
https://doi.org/10.1006/geno.1999.6099
Publikováno v:
Experimental Hematology. 27:1667-1674
Fanconi anemia (FA) is a complex recessive genetic disease that causes bone marrow failure in children. The mechanism by which the gene for FA group C (Fancc) impinges on the normal hematopoietic program is unknown. Here we demonstrate that the bone
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1761c899e1f17f5f37c8bd7f74c0eb74
https://doi.org/10.1016/s0301-472x(99)00102-2
https://doi.org/10.1016/s0301-472x(99)00102-2
Autor:
Rema Ramani, Manuel Buchwald, Mervin C. Yoder, Troy A. Gobbett, Madeleine Carreau, Laura S. Haneline, D. Wade Clapp
Publikováno v:
Blood. 94:1-8
Fanconi anemia (FA) is a complex genetic disorder characterized by progressive bone marrow (BM) aplasia, chromosomal instability, and acquisition of malignancies, particularly myeloid leukemia. We used a murine model containing a disruption of the mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c46bf6c3ab15a403d2d86b3a0fed6de1
https://doi.org/10.1182/blood.v94.1.1.413k03_1_8
https://doi.org/10.1182/blood.v94.1.1.413k03_1_8
Publikováno v:
Human Molecular Genetics. 8:1007-1015
Fanconi anemia (FA) is an autosomal recessive disease characterized by a variety of congenital abnormalities. Cells from FA patients show chromosomal instability and are hypersensitive to DNA cross-linking agents, though the basic cellular defect in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a38bcb633bc3874e33ec9b5780b8b8
https://doi.org/10.1093/hmg/8.6.1007
https://doi.org/10.1093/hmg/8.6.1007