Results 11 to 20 of about 9,936 (203)

Progeria in siblings: A rare case report

Indian Journal of Dermatology, 2011
Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, severe genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an autosomal dominant disorder.
R Sowmiya, D Prabhavathy, S Jayakumar
doaj   +2 more sources

Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis [PDF]

, 2004
Hutchinson-Gilford progeria syndrome is a rare genetic disorder that mimics certain aspects of aging prematurely. Recent work has revealed that mutations in the lamin A gene are a cause of the disease.
Kill, IR, Bridger, JM
core   +6 more sources

In Vivo Base Editing Partially Rescues Bone Dysplasia in a Mouse Model of Hutchinson-Gilford Progeria Syndrome. [PDF]

Aging Cell
Hutchinson‐Gilford progeria syndrome (HGPS) is a premature aging disorder caused by a mutation in LMNA that produces the toxic progerin protein. In this study, an adenine base editor delivered via AAV9 achieved partial gene correction in HGPS mice when given at two weeks of age, partially rescuing bone structural and gene expression parameters and ...
Cabral WA, Grenko CM, Yeritsyan D, Beeram I, Laiwala S, Johnson LR, Tavarez UL, Yan T, Wincovitch SM, Koblan LW, Gao XD, An M, Narisu N, Biesecker LG, Liu DR, Nazarian A, Collins FS, Erdos MR.   +17 more
europepmc   +2 more sources

Chromosome territory position and active relocation in normal and hutchinson-gilford progeria fibroblasts [PDF]

, 2009
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Radial chromosome positioning in interphase nuclei is non-random and can alter according to developmental, differentiation, proliferation or disease status.
Mehta, Ishita Shailesh
core   +8 more sources

Stem cell–associated osteogenic deficiency causes craniofacial deformities with progeroid accumulation of prelamin A [PDF]

JCI Insight
Mutations in LMNA, encoding nuclear lamina protein Lamin A/C, cause premature aging disorders, most notably Hutchinson-Gilford progeria syndrome. Despite obvious skull abnormalities in patients with progeria, the etiology remains elusive.
Kai Li, Trunee Hsu, Hitoshi Uchida, Tingxi Wu, Susan Michaelis, Howard Worman, Wei Hsu   +6 more
doaj   +2 more sources

The progeria research foundation 10th international scientific workshop; researching possibilities, ExTENding lives - webinar version scientific summary. [PDF]

, 2021
Progeria is an ultra-rare (prevalence 1 in 20 million), fatal, pediatric autosomal dominant premature aging disease caused by a mutation in the LMNA gene.
Campisi, Judith, Tuminelli, Kelsey, Gordon, Audrey S, Andres, Vicente, Doucette, Lynn, Gordon, Leslie B, Kieran, Mark W   +6 more
core   +1 more source

Progerin Hinders Autophagy Flux at Its Final Stages in Hutchinson-Gilford Progeria Syndrome Cells, Preventing Its Own Autophagic Degradation. [PDF]

Aging Cell
We demonstrated that progerin induces the formation of autophagosomes but impairs their maturation and subsequent fusion with lysosomes. Progerin impedes proper autophagy flux, thus preventing its own autophagic degradation. Selinexor treatment improved both autophagosome maturation and autophagosome‐lysosome fusion, which ultimately led to effective ...
García-Aguirre I, Reyes-Martínez JA, Unzueta J, Guevara-Namorado F, Lizcano-Meneses S, Gonzalo S, Baldan A, Rangel C, Alanis-Funes GJ, Garcia-Sierra F, Ruiz-Fajardo K, Gormes-Pinchanski S, Castro-Obregón S, Meza-Dorantes A, Chavez-Santoscoy RA, Arrieta-Cruz I, Tristán-Aburto P, Magaña JJ, Cisneros B.   +18 more
europepmc   +2 more sources

Inguinal herniotomy in a patient with progeria

Journal of Pediatric Surgery Case Reports, 2020
Hutchinson–Gilford progeria syndrome or progeria is a rare finding, Herein, we report a 4-year- old boy with progeria who underwent herniotomy and herniorrhaphy for left indirect inguinal hernia.
Tanvir K. Chowdhury, Afruzul Alam, Mohammad Zonaid Chowdhury, Md. Khurshid Alam Sarwar   +3 more
doaj   +1 more source

Isoprenylcysteine Carboxylmethyltransferase-Based Therapy for Hutchinson–Gilford Progeria Syndrome [PDF]

, 2021
Hutchinson-Gilford progeria syndrome (HGPS, progeria) is a rare genetic disease characterized by premature aging and death in childhood for which there were no approved drugs for its treatment until last November, when lonafarnib obtained long-sought FDA
Moisés Balabasquer, Khiar-Fernández, Nora, Anna Barkaway, Marcos-Ramiro, Beatriz, Nagore I. Marín-Ramos, Francisco J. Ortega-Nogales, Balabasquer, Moisés, Gil Ordóñez, Ana, Ortega Gutiérrez, Silvia, López-Rodríguez, María L, Ortega Nogales, Francisco J., Silvia Ortega-Gutiérrez, Mar Martín-Fontecha, Marcos Ramiro, Beatriz, López Rodríguez, María Luz, Pilar Gonzalo, Vicente Andrés, Ortega-Nogales, Francisco J, Ana Gil-Ordóñez, Gonzalo, Pilar, Marín-Ramos, Nagore I, Ortega-Gutiérrez, Silvia, Martín-Fontecha Corrales, María Del Mar, Khiar Fernández, Nora, Martín-Fontecha, Mar, María L. López-Rodríguez, Nourshargh, Sussan, Beatriz Marcos-Ramiro, Loïc Rolas, Sussan Nourshargh, Andres, Vicente, Gil-Ordóñez, Ana, Marín Ramos, Nagore I., Nora Khiar-Fernández, Barkaway, Anna, Rolas, Loïc   +35 more
core   +1 more source

Progeria: a perspective on potential drug targets and treatment strategies. [PDF]

, 2022
Work in the V.A. laboratory is supported by the Spanish Ministerio de Ciencia e Innovación (MCIN)/Agencia Estatal de Investigación (AEI)/ 10.13039/501100011033 (grant PID2019-108489RB-I00) with co-funding from the European Regional Development Fund ...
Andres, V, Andres, Vicente, Benedicto, I, Bergo, MO, Bergo, Martin O, Chen, X, Benedicto, Ignacio, Chen, Xue   +7 more
core   +1 more source