Search Results - progeria

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Mouse Model of Hutchinson-Gilford Progeria Syndrome (HGPS) and Vascular Abnormalities (G608G) mutated form of human LNMA) for Therapeutic Development
Children with Hutchinson-Gilford progeria syndrome (HGPS) suffer from acceleration of certain aging symptoms, mainly cardiovascular disease that generally leads to death from myocardial infarction and/or stroke. The cause of HGPS has been discovered to be a de novo point mutation in lamin A (LNMA) gene. NHGRI Scientist have generated a transgenic...
Published: 10/28/2024   |   Inventor(s): Francis Collins, Maria Eriksson, Renee Varga, Michael Erdos
Keywords(s): Abnormalities, HGPS, Hutchinson-Gilford, Listed LPM Maddox as of 4/15/2015, Model, Mouse, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, Progeria, RXXXXX, Syndrome, vascular, VEXXXX, VPXXXX, XEXXXX
Category(s): Application > Research Materials, TherapeuticArea > Infectious Disease, Application > Therapeutics, TherapeuticArea > Endocrinology, TherapeuticArea > Ophthalmology, TherapeuticArea > Dental, TherapeuticArea > Oncology, TherapeuticArea > Cardiology, TherapeuticArea > Neurology
Farnesyltransferase Inhibitors for Treatment of Laminopathies, Cellular Aging and Atherosclerosis
Hutchinson-Gilford Progeria Syndrome (HGPS) is a very rare progressive childhood disorder characterized by premature aging (progeria). Recently, the gene responsible for HGPS was identified (Eriksson M, et al. Nature 2003), and HGPS joined a group of syndromes — the laminopathies — all of which are caused by various mutations in the lamin A/C gene...
Published: 10/28/2024   |   Inventor(s): Francis Collins
Keywords(s): (4)r syndrome, AA5XXX, AAXXXX, AXXXXX, C syndrome, Chromosome 4 ring syndrome, Chromosome 6 ring syndrome, Chromosome 7 ring syndrome, G syndrome, Hutchinson Gilford Syndrome, Hypertelorism with esophageal abnormality and hypospadias, IA1XXX, IAXXXX, IXXXXX, N syndrome, Premature aging, Progeria, Progeria; Hutchinson-Gilford progeria syndrome, R(6) syndrome, R(7) syndrome, Syndrome X, W syndrome, W syndrome; Syndrome W
Category(s): Collaboration Sought > Licensing, Application > Diagnostics, Application > Research Materials, TherapeuticArea > Cardiology, Application > Therapeutics