Results 81 to 90 of about 2,564 (158)

Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE) [PDF]

Pseudoxanthoma elasticum (PXE) is a rare, inherited, systemic disease of elastic tissue that in particular affects the skin, eyes, and cardiovascular system. Recently, the ABCC6 (MRP6) gene was found to cause PXE. A defective type of ABCC6 gene (16p13.1)
20258, Noji, Yoshihiro, 20257, 20256, 00019960, 20255, 20254, Nozue, Tsuyoshi, 20253, Inazu, Akihiro, Uno, Yoshihide, Yu, Wenxin, 20259, Kawashiri, Masaaki, Mabuchi, Hiroshi, 333, Nohara, Atsushi, Todo, Yasuhiro, 80293348, 539, Higashikata, Toshinori, Hifumi, Senshu, 342, 389, 90345637, 50313648   +25 more
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Bruch's Membrane Calcification in Pseudoxanthoma Elasticum

Ophthalmology Science
Purpose: To investigate the histology of Bruch’s membrane (BM) calcification in pseudoxanthoma elasticum (PXE) and correlate this to clinical retinal imaging. Design: Experimental study with clinicopathological correlation.
Sara Risseeuw, MD, PhD, Matthew G. Pilgrim, PhD, Sergio Bertazzo, PhD, Connor N. Brown, PhD, Lajos Csincsik, PhD, Sarah Fearn, PhD, Richard B. Thompson, PhD, Arthur A. Bergen, PhD, Jacoline B. ten Brink, BAS, Elod Kortvely, PhD, Wilko Spiering, MD, PhD, Jeannette Ossewaarde–van Norel, MD, PhD, Redmer van Leeuwen, MD, PhD, Imre Lengyel, PhD   +13 more
doaj   +1 more source

React-pxe: a consensus on diagnosis and future research concerning pseudoxanthoma elasticum (PXE)

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder described more than 150 years ago in which calcification and fragmentation of the elastic fibers result in a variety of symptoms which differ greatly in presentation and severity between ...
Duranton, C, Letavernier, E, Pfau, M, Aranyi, T, Vanakker, O M, Nollet, L, Martin, L, Aelbrecht, K, REACT-PXE Consortium, Murro, V, MS Vasculaire & Endocrinologie, Kiss, N, Väärämäki, S, Medvecz, M, Nevalainen, P I, Szeri, F, Leftheriotis, G, Circulatory Health, Spiering, W   +18 more
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Prevalence and severity of arterial calcifications in pseudoxanthoma elasticum (PXE) compared to hospital controls. Novel insights in to the vascular phenotype of PXE

, 2016
BACKGROUND AND AIMS: Pseudoxanthoma elasticum (PXE) is a monogenetic disorder with progressive calcifications of the skin, the Bruch's membrane in the eyes and the arterial wall.
Kranenburg, Guido, Attrach, Mohamed, de Jong, Pim A, Mali, Willem P, Visseren, Frank L J, Spiering, Wilko, MS Radiologie, Brain, MS Infectieziekten, MS Vasculaire & Endocrinologie, Researchgr. Systems Radiology, Circulatory Health, Interne Geneeskunde Vasculaire, Cancer   +13 more
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Pseudoxanthoma elasticum-associated angioid streaks near a scleral buckle

American Journal of Ophthalmology Case Reports
Purpose: We report a patient with pseudoxanthoma elasticum (PXE) with angioid streaks near a scleral buckle site. Observations: A 46-year-old male with PXE presented for evaluation of blurry vision and was found to have classic PXE findings in both eyes ...
Karen E. Lee, Tobin B.T. Thuma, Mirataollah Salabati, Meera D. Sivalingam, Jose S Pulido, Kammi B. Gunton   +5 more
doaj   +1 more source

Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model.

PLoS ONE, 2013
BackgroundPseudoxanthoma elasticum (PXE), caused by mutations in the ABCC6 gene, is a rare multiorgan disease characterized by the mineralization and fragmentation of elastic fibers in connective tissue.
Fabrice Prunier, Gwenola Terrien, Yannick Le Corre, Ailea L Y Apana, Loïc Bière, Gilles Kauffenstein, Alain Furber, Arthur A B Bergen, Theo G M F Gorgels, Olivier Le Saux, Georges Leftheriotis, Ludovic Martin   +11 more
doaj   +1 more source

Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE)

, 1999
Skin biopsies of 18 healthy relatives of patients with pseudoxanthoma elasticum (PXE), belonging to six different recessive families, have been examined by optical and electron microscopy in order to determine morphologic alterations potentially useful ...
RONCHETTI, Ivonne, QUAGLINO, Daniela, BACCHELLI, Barbara, GHEDUZZI, Dealba, CD Boyd, BORALDI, Federica, TAPARELLI, Francesca, B. Trolli, O. Le Saux   +8 more
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Relationship between Framingham cardiovascular risk score and calcification score in patients with pseudoxanthoma elasticum (PXE) and controls.

, 2014
Relationship between Framingham cardiovascular risk score and calcification score in patients with pseudoxanthoma elasticum (PXE) and controls.
Jean François Hamel (560275), Olivier Le Saux (205431), Daniel Henrion (431681), Georges Leftheriotis (196220), Gilles Kauffenstein (436349), Serge Willoteaux (515717), Pierre Abraham (332170), Ludovic Martin (436351)   +7 more
core   +1 more source

NETWORK BOOTING STRESS LAB - A BETTER TEST SCENARIO FOR VALIDATING THE PXE BOOT FUNCTIONALITY [PDF]

, 2019
PXE Stress Lab is an architecture for network booting stress; it could be used to replace the existing PXE stress test tool, called ETD PXE Stress tool. The PXE Stress Lab could have more propinquity to a real DASH process environment.
INC, HP
core  

Large-scaled metabolic profiling of human dermal fibroblasts derived from pseudoxanthoma elasticum patients and healthy controls.

PLoS ONE, 2014
Mutations in the ABC transporter ABCC6 were recently identified as cause of Pseudoxanthoma elasticum (PXE), a rare genetic disorder characterized by progressive mineralization of elastic fibers.
Patricia Kuzaj, Joachim Kuhn, Ryan D Michalek, Edward D Karoly, Isabel Faust, Mareike Dabisch-Ruthe, Cornelius Knabbe, Doris Hendig   +7 more
doaj   +1 more source