onr:"swepub:oai:DiVA.org:uu-12997"
Search: onr:"swepub:oai:DiVA.org:uu-12997" > Downregulation of d...
- 1 of 1
- Previous record
- Next record
- To hitlist
| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03128naa a2200601 4500 | |
| 001 | oai:DiVA.org:uu-12997 | |
| 003 | SwePub | |
| 008 | 080120s2007 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-129972 URI |
| 024 | 7 | a https://doi.org/10.1016/j.cell.2007.03.0432 DOI |
| 040 | a (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Raval, Aparna4 aut |
| 245 | 1 0 | a Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia |
| 264 | 1 | b Elsevier BV,c 2007 |
| 338 | a print2 rdacarrier | |
| 520 | a The heritability of B cell chronic lymphocytic leukemia (CLL) is relatively high; however, no predisposing mutation has been convincingly identified. We show that loss or reduced expression of death-associated protein kinase 1 (DAPK1) underlies cases of heritable predisposition to CLL and the majority of sporadic CLL. Epigenetic silencing of DAPK1 by promoter methylation occurs in almost all sporadic CLL cases. Furthermore, we defined a disease haplotype, which segregates with the CLL phenotype in a large family. DAPK1 expression of the CLL allele is downregulated by 75% in germline cells due to increased HOXB7 binding. In the blood cells from affected family members, promoter methylation results in additional loss of DAPK1 expression. Thus, reduced expression of DAPK1 can result from germline predisposition, as well as epigenetic or somatic events causing or contributing to the CLL phenotype. | |
| 653 | a HUMDISEASE | |
| 653 | a MEDICINE | |
| 653 | a MEDICIN | |
| 700 | 1 | a Tanner, Stephan M.4 aut |
| 700 | 1 | a Byrd, John C.4 aut |
| 700 | 1 | a Angerman, Elizabeth B.4 aut |
| 700 | 1 | a Perko, James D.4 aut |
| 700 | 1 | a Chen, Shih-Shih4 aut |
| 700 | 1 | a Hackanson, Björn4 aut |
| 700 | 1 | a Grever, Michael R.4 aut |
| 700 | 1 | a Lucas, David M.4 aut |
| 700 | 1 | a Matkovic, Jennifer J.4 aut |
| 700 | 1 | a Lin, Thomas S.4 aut |
| 700 | 1 | a Kipps, Thomas J.4 aut |
| 700 | 1 | a Murray, Fionau Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)fimur450 |
| 700 | 1 | a Weisenburger, Dennis4 aut |
| 700 | 1 | a Sanger, Warren4 aut |
| 700 | 1 | a Lynch, Jane4 aut |
| 700 | 1 | a Watson, Patrice4 aut |
| 700 | 1 | a Jansen, Mary4 aut |
| 700 | 1 | a Yoshinaga, Yuko4 aut |
| 700 | 1 | a Rosenquist, Richardu Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)richrose |
| 700 | 1 | a de Jong, Pieter J.4 aut |
| 700 | 1 | a Coggill, Penny4 aut |
| 700 | 1 | a Beck, Stephan4 aut |
| 700 | 1 | a Lynch, Henry4 aut |
| 700 | 1 | a de la Chapelle, Albert4 aut |
| 700 | 1 | a Plass, Christoph4 aut |
| 710 | 2 | a Uppsala universitetb Institutionen för genetik och patologi4 org |
| 773 | 0 | t Celld : Elsevier BVg 129:5, s. 879-890q 129:5<879-890x 0092-8674x 1097-4172 |
| 856 | 4 | u http://www.cell.com/article/S0092867407005120/pdf |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-12997 |
| 856 | 4 8 | u https://doi.org/10.1016/j.cell.2007.03.043 |
- 1 of 1
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Raval, Aparna
- Tanner, Stephan ...
- Byrd, John C.
- Angerman, Elizab ...
- Perko, James D.
- Chen, Shih-Shih
- show more...
- Hackanson, Björn
- Grever, Michael ...
- Lucas, David M.
- Matkovic, Jennif ...
- Lin, Thomas S.
- Kipps, Thomas J.
- Murray, Fiona
- Weisenburger, De ...
- Sanger, Warren
- Lynch, Jane
- Watson, Patrice
- Jansen, Mary
- Yoshinaga, Yuko
- Rosenquist, Rich ...
- de Jong, Pieter ...
- Coggill, Penny
- Beck, Stephan
- Lynch, Henry
- de la Chapelle, ...
- Plass, Christoph
- show less...
- Articles in the publication
- Cell
- By the university
- Uppsala University
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
