Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ylva Rosengardten"'
Publikováno v:
PLoS ONE, Vol 4, Iss 1, p e4114 (2009)
Multiple genetic disorders caused by mutations that affect the proteins lamin A and C show strong skin phenotypes. These disorders include the premature aging disorders Hutchinson-Gilford progeria syndrome and mandibuloacral dysplasia, as well as res
Externí odkaz:
https://doaj.org/article/156ebb5806ca41be8d8f07dde20dffe3
Autor:
Tomás McKenna, Jean-Ha Baek, Nikenza Viceconte, Maria Eriksson, Diana Grochová, Ylva Rosengardten
Publikováno v:
Aging Cell
Hutchinson–Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD) are two laminopathies caused by mutations leading to cellular accumulation of prelamin A or one of its truncated forms, progerin. One proposed mechanism for the more severe
Publikováno v:
Aging Cell. 10:1011-1020
Hutchinson-Gilford progeria syndrome (HGPS or progeria) is a very rare genetic disorder with clinical features suggestive of premature aging. Here, we show that induced expression of the most common HGPS mutation (LMNA c.1824C>T, p.G608G) results in
Publikováno v:
Aging cell. 10(6)
Hutchinson-Gilford progeria syndrome (HGPS or progeria) is a very rare genetic disorder with clinical features suggestive of premature aging. Here, we show that induced expression of the most common HGPS mutation (LMNA c.1824CT, p.G608G) results in a
Publikováno v:
PLoS ONE, Vol 4, Iss 1, p e4114 (2009)
PLoS ONE
PLoS ONE
Multiple genetic disorders caused by mutations that affect the proteins lamin A and C show strong skin phenotypes. These disorders include the premature aging disorders Hutchinson-Gilford progeria syndrome and mandibuloacral dysplasia, as well as res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ff26d66a7b9c15cf967cff6f11dd0d5
http://hdl.handle.net/10138/161764
http://hdl.handle.net/10138/161764
Autor:
Eva Schmidt, Maria Eriksson, Björn Rozell, Ylva Rosengardten, Caroline Sonnabend, Hanna Sagelius
Publikováno v:
Journal of medical genetics. 45(12)
Hutchinson-Gilford progeria syndrome (HGPS) is a rare progeroid syndrome caused by mutations in the LMNA gene. Currently there is no treatment available for HGPS, but promising results from several studies using farnesyl transferase inhibitors (FTIs)