Results 111 to 120 of about 7,521 (211)

Validation of modulated proteins due to progerin over-expression in Progeria Syndrome (HGPS) cell lines [PDF]

, 2015
El síndrome de la progeria de Hutchinson-Gilford (HGPS), una enfermedad de envejecimiento prematuro, se caracteriza por la sobreexpresión de una isoforma mutada de la lamina A, la progerina o lamina AΔ50.
Palla Pérez, Sandra
core   +1 more source

Recherche de l'expression de la lamine A et de la progérine chez des patients avec un syndrome myélodysplasique/syndrome myéloprolifératif avec thrombocytose [PDF]

, 2012
Les syndromes myélodysplasiques (SMD) et myéloprolifératifs (SMP) sont des maladies qui touchent les cellules souches de la moelle hématopoïétique.
Wuthrich, H.
core  

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

Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics, 2021
openaire   +3 more sources

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  

The thermodynamics of metabolism, cardiovascular performance and exercise, in health and diabetes: The objective of clinical markers [PDF]

, 2013
Extensive experience in UK National Health Service metabolic syndrome/type 2 diabetes clinics highlights the need for convenient clinical marker(s) which can be readily used to indicate the success or otherwise of alternative therapies.
Atherton, MA, Collins, MW, González-Alonso, J, König, CS, Ramachandran, S   +4 more
core  

X-linked Malformation and Infantile Lethality Syndrome (provisionally named Ogden Syndrome) [PDF]

, 2013
This is a lethal X-linked disorder of infancy comprising a distinct combination of distinctive craniofacial features producing an aged appearance, growth failure, hypotonia, global developmental delays, cryptorchidism, and acquired cardiac arrhythmias ...
Bird, Lynne M., Lyon, Gholson J., Rope, Alan   +2 more
core  

Potential Role of p53 in Huchinson-Gilford Progeria Syndrome [PDF]

, 2017
Undergraduate ...
Eschedor, Danielle, Schiefer, Levi, Thomas, Abigail   +2 more
core  

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