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Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder [PDF]

Case Reports in Dentistry, 2013
Hutchinson-Gilford progeria syndrome (HGPS) is a rare pediatric genetic syndrome with incidence of one per eight million live births. The disorder is characterised by premature aging, generally leading to death at approximately 13.4 years of age. This is
Rajat G. Panigrahi, Antarmayee Panigrahi, Poornima Vijayakumar, Priyadarshini Choudhury, Sanat K. Bhuyan, Ruchi Bhuyan, G. Maragathavalli, Abhishek Ranjan Pati   +7 more
doaj   +2 more sources

Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis

Annals of Pediatric Cardiology, 2011
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging syndrome that results from mutation in the Laminin A gene. This case report of a 12-year-old girl with HGPS is presented for the rarity of the syndrome and the classical clinical ...
Natesh B Hanumanthappa, Ganigara Madhusudan, Jayaranganath Mahimarangaiah, Cholenahally N Manjunath   +3 more
doaj   +2 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

Model of human aging: Recent findings on Werner’s and Hutchinson-Gilford progeria syndromes [PDF]

Clinical Interventions in Aging, 2008
Shian-ling Ding1, Chen-Yang Shen2,3,41Department of Nursing, Kang-Ning Junior College of Medical Care and Management, Taipei, Taiwan; 2Institute of Biomedical Sciences, and 3Life Science Library, Academia Sinica, Taipei, Taiwan; 4Graduate Institute of ...
Shian-ling Ding, Chen-Yang Shen
doaj   +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

Progeria

Indian Journal of Dental Research, 2009
Hutchinson Gilford Progeria Syndrome (HGPS) is a rare, sporadic, autosomal dominant syndrome that involves premature ageing and death at early age due to myocardial infarction or stroke.
Mohamed Riyaz S, Jayachandran S
doaj   +1 more source

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

ACS Central Science, 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
Beatriz Marcos-Ramiro, Ana Gil-Ordóñez, Nagore I. Marín-Ramos, Francisco J. Ortega-Nogales, Moisés Balabasquer, Pilar Gonzalo, Nora Khiar-Fernández, Loïc Rolas, Anna Barkaway, Sussan Nourshargh, Vicente Andrés, Mar Martín-Fontecha, María L. López-Rodríguez, Silvia Ortega-Gutiérrez   +13 more
doaj   +2 more sources

Hutchinson Gilford Progeria Syndrome

Journal of Dr. NTR University of Health Sciences, 2012
Progeria is a rare disease with short stature and premature aging. The incidence is 1 in 8 million. Though the clinical features are typical, conventional biochemical and radiological features help in confirming the diagnosis. We present a rare case of short-statured female with features of aging and skin manifestations, suggestive of progeria.
Sameeraja Vaddera, Satyanarayana R. Kakollu, Sudhakar Kancharla, Madhuri Cherkuri   +3 more
  +4 more sources

Hutchinson-Gilford progeria syndrome

Indian Journal of Dermatology, Venereology, and Leprology, 2010
Progeria is a rare genetic disorder characterized by premature aging, involving the skin, bones, heart, and blood vessels. We report a 4-year-old boy who presented with clinical manifestations of progeria. He had characteristic facies, prominent eyes, scalp and leg veins, senile look, loss of scalp hair, eyebrows and eyelashes, stunted growth, and ...
Agarwal, Uma Shankar, Sitaraman, S., Mehta, Sharad, Panse, Gauri   +3 more
openaire   +2 more sources

Farnesyltransferase inhibitor treatment restores chromosome territory positions and active chromosome dynamics in Hutchinson-Gilford progeria syndrome cells [PDF]

, 2011
Copyright @ 2011 Mehta et al.; licensee BioMed Central Ltd. This article has been made available through the Brunel Open Access Publishing Fund. This is an open access article distributed under the terms of the Creative Commons Attribution License ...
Christopher H Eskiw, Ishita S Mehta, Halime D Arican, Kill, IR, Arican, HD, Eskiw, CH, Bridger, JM, Joanna M Bridger, Mehta, IS, Ian R Kill   +9 more
core   +1 more source