Results 41 to 50 of about 4,013 (114)

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  

Progeroid Syndrome and Mutation in LMNA Gene: Report of Two Cases from Iran [PDF]

Journal of Kerman University of Medical Sciences, 2005
Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness.
Y Shafeghati, N Levy, G.M Martin
doaj  

Altered Nuclear Functions in Progeroid Syndromes: a Paradigm for Aging Research

The Scientific World Journal, 2009
Syndromes of accelerated aging could provide an entry point for identifying and dissecting the cellular pathways that are involved in the development of age-related pathologies in the general population.
Baomin Li, Sonali Jog, Jose Candelario, Sita Reddy, Lucio Comai   +4 more
doaj   +1 more source

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   +1 more source

Generation of a lamin A/C knockout human induced pluripotent stem cell line (ZJULLi007-A) via CRISPR/Cas9

Stem Cell Research
Lamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy ...
Dandan Liu, Jiaxi Shen, Zongkuai Yang, Hangping Fan, Hao Wang, Ping Liang, Tingyu Gong   +6 more
doaj   +1 more source

Radiological Diagnosis of a Rare Premature Aging Genetic Disorder: Progeria (Hutchinson-Gilford Syndrome)

Case Reports in Radiology, 2017
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the
Haji Mohammed Nazir, Akshiitha Ramesh Baabhu, Yuvaraj Muralidharan, Seena Cheppala Rajan   +3 more
doaj   +1 more source

Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization

The Application of Clinical Genetics, 2020
Harry Pachajoa,1,2 Angelica Claros-Hulbert,3,4 Ximena García-Quintero,3,4 Lina Perafan,1 Andres Ramirez,5 Andres F Zea-Vera6 1Faculty of Health Sciences, Congenital Anomalies and Rare Diseases Investigation Center (CIACER), Universidad Icesi, Cali,
Pachajoa H, Claros-Hulbert A, García-Quintero X, Perafan L, Ramirez A, Zea-Vera AF   +5 more
doaj  

Hutchinson-Gilford progeria syndrome

Indian Dermatology Online Journal, 2015
Amar Singh Bhukya, Bellum Siva Nagi Reddy   +1 more
doaj   +1 more source

Ghrelin delays premature aging in Hutchinson-Gilford progeria syndrome. [PDF]

Aging Cell, 2023
Ferreira-Marques M, Carvalho A, Franco AC, Leal A, Botelho M, Carmo-Silva S, Águas R, Cortes L, Lucas V, Real AC, López-Otín C, Nissan X, de Almeida LP, Cavadas C, Aveleira CA.   +14 more
europepmc   +1 more source

Isoprenylcysteine Carboxylmethyltransferase-Based Therapy for Hutchinson–Gilford Progeria Syndrome

ACS Central Science, 2021
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   +1 more source