Zobrazeno 1 - 10
of 14
pro vyhledávání: '"David E. Housman"'
Autor:
Mark M. Rich, David E. Housman, Sita Reddy, Patricia Anne Reilly, Rita J. Balice-Gordon, Helen Rayburn, Khoa D. Tran, Didier Cros, Roderick T. Bronson, John Leferovich, Daniel J. Smith, Brigid M. Davis
Publikováno v:
Nature Genetics. 13:325-335
Myotonic dystrophy (DM) is an autosomal dominant disorder resulting from the expansion of a CTG repeat in the 3' untranslated region of a putative protein kinase (DMPK). To elucidate the role of DMPK in DM pathogenesis we have developed Dmpk deficien
Autor:
Amy J. Williams, Tucker Collins, Janet Rowley, Amanda M. Shearman, Keisuke Toyama, Christine Morris, Yok L. Kwong, Fay Katz, Vincent P. Stanton, Reinhard Becher, Kazuma Ohyashiki, Ian D. Dubé, Julian Borrow, David E. Housman
Publikováno v:
Nature Genetics. 12:159-167
The t(7;11)(p15;p15) translocation is a recurrent chromosomal abnormality associated primarily with acute myeloid leukaemia (FAB M2 and M4). We present here the molecular definition of this translocation. On chromosome 7 positional cloning revealed t
Autor:
Nicholas C. Dracopoli, Thomas W. Glover, Francis S. Collins, Susan A. Tarlé, Lone B. Andersen, David H. Gutmann, Jane W. Fountain, David E. Housman
Publikováno v:
Nature Genetics. 3:118-121
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by progressive and variable involvement of tissues predominantly derived from the neural crest and a predisposition toward malignancies. The NF1 gene encodes neurofi
Autor:
Martin Schalling, James S. Sutcliffe, Heather L. Hinds, Claude T. Ashley, Stephen T. Warren, David E. Housman, David L. Nelson
Publikováno v:
Nature Genetics. 3:36-43
We have performed mRNA in situ hybridization studies and northern blot analysis in the mouse and human, respectively, to determine the normal gene expression patterns of FMR-1. Expression in the adult mouse was localized to several regions of the bra
Autor:
Heli A. Walker, Joan S. Steffan, James E. Bear, J. Lawrence Marsh, David E. Housman, Natalia Slepko, Ya-Zhen Zhu, Frank B. Gertler, Elizabeth A. Preisinger, Aleksey G. Kazantsev, Leslie M. Thompson
Publikováno v:
Kazantsev, A; Walker, HA; Slepko, N; Bear, JE; Preisinger, E; Steffan, JS; et al.(2002). A bivalent Huntingtin binding peptide suppresses polyglutamine aggregation and pathogenesis in Drosophila. Nature Genetics, 30(4), 367-376. doi: 10.1038/ng864. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/01c367sj
Huntington disease is caused by the expansion of a polyglutamine repeat in the Huntingtin protein (Htt) that leads to degeneration of neurons in the central nervous system and the appearance of visible aggregates within neurons. We have developed and
Autor:
Izabela Brozek, Bernhard Zabel, Maria Korzon, Ekkehart Lausch, David E. Housman, Janusz Limon, Dirk Reutzel, Barbara Gärtner-Rupprecht, Dirk Prawitt, Thorsten Enklaar, Jerry Pelletier, Christian Spangenberg, Stephan Fees
Publikováno v:
Nature Genetics. 37:785-786
Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor
Autor:
Anna Marie Frischauf, Reinhard Becher, Felix Mitelman, Curt I. Civin, Julian Borrow, Vincent P. Stanton, J. Michael Andresen, Stefano Volinia, Doug Horsman, David E. Housman, Frederick G. Behm, Ann E. Watmore, Christine M. Disteche, Raju S.K. Chaganti, Ian D. Dubé
Publikováno v:
Nature genetics. 14(1)
The recurrent translocation t(8;16)(p11;p13) is a cytogenetic hallmark for the M4/M5 subtype of acute myeloid leukaemia. Here we identify the breakpoint-associated genes. Positional cloning on chromosome 16 implicates the CREB-binding protein (CBP),
Autor:
Manuela Gariboldi, Antonio Fiorino, Ramu Elango, Giacomo Manenti, Kent W. Hunter, F. Stefania Falvella, David E. Housman, Tommaso A. Dragani, Marco A. Pierotti, Laura De Gregorio
Publikováno v:
Nature genetics. 12(4)
Lung cancer, a major cause of death in the Western world, has a poor prognosis1. So far, therapeutic strategies have had only a limited effect. Lung cancer risk is strongly associated with cigarette smoking2,3 and lung cancer pedigrees are rare. Howe
Autor:
Seon Park, Martin Schalling, Amy Bernard, Shyamala Maheswaran, Gwen C. Shipley, Drucilla Roberts, Jonathan Fletcher, Robert Shipman, James Rheinwald, George Demetri, James Griffin, Mark Minden, David E. Housman, Daniel A. Haber
Publikováno v:
Nature genetics. 4(4)
The tumour suppressor gene WT1 encodes a transcription factor expressed in tissues of the genito-urinary system. Inactivation of this gene is associated with the development of Wilms tumour a pediatric kidney cancer. We show that WT1 is also expresse
Publikováno v:
Nature genetics. 4(2)
Expansion of trinucleotide repeats can give rise to genetic disease. We have developed a technique, repeat expansion detection (RED), that can identify potentially pathological repeat expansion without prior knowledge of chromosomal location. Human g