نتایج جستجو برای: gilford progeria syndrome

تعداد نتایج: 622251  

2013
Zheng-Mei Xiong Christina LaDana Di Wu Kan Cao

Lipodystrophies, characterized by partial or complete loss of adipose tissue, have been associated with mutations in the lamin A gene. It remains unclear how lamin A mutants interfere with adipose tissue formation. Hutchinson-Gilford progeria syndrome (HGPS) presents the most severe form of lamin A-associated diseases, whose patients show a complete loss of subcutaneous fat. Using iPSCs reprogr...

2013
V. Cenni C. Capanni M. Columbaro M. Ortolani M.R. D’Apice G. Novelli M. Fini S. Marmiroli E. Scarano N.M. Maraldi S. Squarzoni S. Prencipe G. Lattanzi

V. Cenni,1 C. Capanni,1 M. Columbaro,2 M. Ortolani,1 M.R. D’Apice,3 G. Novelli,4 M. Fini,5 S. Marmiroli,6 E. Scarano,7 N.M. Maraldi,2 S. Squarzoni,1 S. Prencipe,5 G. Lattanzi1 1National Research Council of Italy, Institute for Molecular Genetics, IGM-CNR, Unit of Bologna c/o IOR, Bologna 2Laboratory of Musculoskeletal Cell Biology, Rizzoli Orthopedic Institute, Bologna 3Department of Biopatholo...

2015
Han Si Paola Scaffidi Anand Merchant Maggie Cam Eric Stahlberg Tom Misteli Patricia Fernandez

Hutchinson-Gilford progeria syndrome (HGPS) patients do not develop cancer despite a significant accumulation of DNA damage in their cells. We have recently reported that HGPS cells are refractory to experimental oncogenic transformation and we identified the bromodomain-containing 4 protein (BRD4) as a mediator of the transformation resistance. ChIP-sequencing experiments revealed distinct gen...

Journal: :Biochemical Society transactions 2011
Juliet A Ellis Sue Shackleton

The fifth U.K. meeting on nuclear envelope disease and chromatin brought together international experts from across the field of nuclear envelope biology to discuss the advancements in a class of tissue-specific degenerative diseases called the laminopathies. Clinically, these range from relatively mild fat-wasting disorders to the severe premature aging condition known as Hutchinson-Gilford pr...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2010
Guillermo Mariño Alejandro P Ugalde Alvaro F Fernández Fernando G Osorio Antonio Fueyo José M P Freije Carlos López-Otín

Zmpste24 (also called FACE-1) is a metalloproteinase involved in the maturation of lamin A, an essential component of the nuclear envelope. Zmpste24-deficient mice exhibit multiple defects that phenocopy human accelerated aging processes such as Hutchinson-Gilford progeria syndrome. In this work, we report that progeroid Zmpste24(-/-) mice present profound transcriptional alterations in genes t...

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