Results 91 to 100 of about 3,094 (152)

Echocardiographic data from Abcc6^−/− and wild type mice.

, 2013
LVEDD, left ventricular end-diastolic diameter; LVESD, left ventricular end-systolic diameter; AWd, diastolic anterior wall thickness; AWs, systolic anterior wall thickness; PWd, diastolic posterior wall thickness; PWs, systolic posterior wall thickness;
Loïc Bière (436348), Alain Furber (436350), Fabrice Prunier (436344), Arthur A. B. Bergen (135809), Theo G. M. F. Gorgels (135788), Olivier Le Saux (205431), Ailea L. Y. Apana (436347), Georges Leftheriotis (196220), Gwenola Terrien (436345), Gilles Kauffenstein (436349), Yannick Le Corre (436346), Ludovic Martin (436351)   +11 more
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Abcc6 deficiency in the mouse leads to calcification of collagen fibers in Bruch's membrane

, 2012
Item does not contain fulltextPseudoxanthoma elasticum (PXE) is a heritable disorder characterized by mineralization of connective tissue, which leads to pathology in eye, skin and blood vessels. The disease is caused by mutations in ABCC6. To learn more
Gorgels, T.G., Meeldijk, J.D., Wal, A.C. van der, Kuppevelt, A.H.M.S.M. van, Nillesen, S.T.M., Bergen, A.A.B., Teeling, P.   +6 more
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Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.

, 2017
Pseudoxanthoma elasticum, a heritable ectopic mineralization disorder, is caused by mutations in the ABCC6 gene primarily expressed in the liver and the kidneys.
Uitto, Jouni, Kingman, Joshua, Sundberg, John P, van de Wetering, Koen, Li, Qiaoli, Tannouri, Sami   +5 more
core   +1 more source

DIFFERENTIALLY EXPRESSED PROTEINS IN FIBROBLASTS FROM Abcc6-/- AND Abcc6+/+ MICE HIGHLIGHT THE ROLE OF A LOCALLY ALTERED PHOSPHATE METABOLISM IN THE OCCURRENCE OF ECTOPIC CALCIFICATION

, 2013
Progressive calcification of elastic fibers is typical of Pseudoxanthoma elasticum (PXE), a rare genetic disease due to mutations in the ABCC6 gene.The pathogenesis of mineral- ization is only partially known.1 Previous studies on dermal fibroblasts from
BARTOLOMEO, ANGELICA, QUAGLINO, Daniela, Uitto, J., BORALDI, Federica   +3 more
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Genomic partitioning and functional dissection of inbreeding depression for stature in Brown Swiss cattle. [PDF]

Genet Sel Evol
He Q, Deuber J, Seefried FR, Pausch H, Kadri NK.   +4 more
europepmc   +1 more source

ABCC6 and pseudoxanthoma elasticum

, 2007
ABCC6 belongs to the adenosine triphosphate-binding cassette (ABC) gene subfamily C. This protein family is involved in a large variety of physiological processes, such as signal transduction, protein secretion, drug and antibiotic resistance, and ...
Hu, X., Bergen, A.A.B., Jong de, P.T.V.M., Gorgels, Th.G.M.F., Plomp. A.S.,   +4 more
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Retinal Features and Preserved Vision in ENPP1 Deficiency: Long-Term Insights from Multimodal Imaging and Electrophysiology. [PDF]

Int J Mol Sci
Heiduschka P, Nitschke Y, Clemens C, Storp J, Eter N, Rutsch F.   +5 more
europepmc   +1 more source

Generalized Arterial Calcification of Infancy (GACI): State of the Art and Clinical Perspectives. [PDF]

J Cardiovasc Dev Dis
Castaldi B, Imperatore G, Pomiato E, Di Salvo G.   +3 more
europepmc   +1 more source

Whole-exome sequencing identifies matrisomal gene associations in monogenic cerebral small vessel disease. [PDF]

J Neurol
Guyler SK, Alfayyadh MM, Maksemous N, Lea RA, Smith RA, Sutherland HG, Griffiths LR.   +6 more
europepmc   +1 more source

Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases. [PDF]

Int J Mol Sci
Wagenknecht JB, Haque N, Jorge SD, Ratnasinghe BD, Urrutia R, Gahl WA, Ziegler SG, Zimmermann MT.   +7 more
europepmc   +1 more source