Results 161 to 170 of about 17,639 (297)

Hutchinson-Gilford syndrome (progeria)

Indian Journal of Dermatology, 2009
Progeria is a rare, autosomal dominant, progeroid disorder. In the world literature less than 100 cases have been reported to date. We present this case because of its rarity.
Surjushe Amar, Thakre Minal, Vasani Resham, Saple Dattatray   +3 more
doaj  

Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson–Gilford progeria syndrome [PDF]

, 2004
Robert D. Goldman, Dale K. Shumaker, Michael R. Erdos, Maria Eriksson, Anne E. Goldman, Leslie B. Gordon, Yosef Gruenbaum, Satya Khuon, Melissa G. Mendez, Renée Varga, Francis S. Collins   +10 more
openalex   +1 more source

Progeria.

Indian journal of dermatology, venereology and leprology, 2012
A case of progeria is being reported in a 7-year old boy. He had characteristic facies, short stature, alopecia, high pitched voice, coxa valga and sclerodermatous changes in skin.
C, Kaur, S, Fatnani, A, Matravadia, K M, Acharya   +3 more
openaire   +1 more source

The hallmarks of aging as a conceptual framework for health and longevity research

Frontiers in Aging
The inexorability of the aging process has sparked the curiosity of human beings since ancient times. However, despite this interest and the extraordinary scientific advances in the field, the complexity of the process has hampered its comprehension.
Antonio G. Tartiere, José M. P. Freije, José M. P. Freije, Carlos López-Otín, Carlos López-Otín, Carlos López-Otín   +5 more
doaj   +1 more source

p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria [PDF]

, 2004
Janbernd Kirschner, Thomas Brune, Manfred Wehnert, Jonas Denecke, Christina Wasner, Anja Feuer, Thorsten Marquardt, Uwe‐Peter Ketelsen, P. Wieacker, Carsten G. Bönnemann, Rudolf Korinthenberg   +10 more
openalex   +1 more source

A targeted antisense therapeutic approach for Hutchinson–Gilford progeria syndrome

Nature Network Boston, 2021
M. Erdos, W. A. Cabral, Urraca L Tavarez, Kan Cao, J. Gvozdenovic-Jeremic, Narisu Narisu, P. Zerfas, Stacy Crumley, Yoseph Boku, G. Hanson, D. Mourich, R. Kole, M. Eckhaus, L. Gordon, F. Collins   +14 more
semanticscholar   +1 more source

The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers. [PDF]

, 2006
Hutchinson-Gilford progeria syndrome (HGPS) is a dominant autosomal premature aging syndrome caused by the expression of a truncated prelamin A designated progerin.
Buendia, Brigitte, Coppey-Moisan, Maïté, Courvalin, Jean-Claude, Delbarre, Erwan, Gaillard, Claire, Tramier, Marc   +5 more
core   +1 more source

A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation [PDF]

, 2006
Shung‐Haur Yang
openalex   +1 more source

A combination of both proteomic and genetic approach to indentify de-regulated pathway in progeria, an accelerated aging disorder [PDF]

, 2011
Comunicaciones a ...
Arufe, M.C., Blanco, Francisco J., Calamia, Valentina, Fernández, P., Fuente, A. de la, Lesende, I., Mateos, Jesús, Rocha, Beatriz, Ruiz-Romero, Cristina   +8 more
core  

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

Nature, 2003
M. Eriksson, W. Brown, L. Gordon, L. Gordon, M. W. Glynn, J. Singer, L. Scott, M. Erdos, C. Robbins, T. Moses, Peter Berglund, A. Dutra, E. Pak, Sandra G. Durkin, A. Csoka, M. Boehnke, T. Glover, F. Collins   +17 more
semanticscholar   +1 more source