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Frontiers in Genetics, ISSN 1664-8021, 2012, Volume 3, p. 302
Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6... 
GACI | ENPP1 | PXE | Arterial calcification | ABCC6 | arterial calcification
Journal Article
Lipids in Health and Disease, ISSN 1476-511X, 01/2019, Volume 18, Issue 1
Background: ATP-binding cassette (ABC) transporters are involved in a huge range of physiological processes. Mutations in the ABCC6 gene cause pseudoxanthoma... 
ATP-binding cassette transporters | Mice | Pseudoxanthoma elasticum | Gene expression | Abcc6
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 05/2019, Volume 139, Issue 5, pp. 1082 - 1088
Pseudoxanthoma elasticum is a heritable disease caused by ABCC6 deficiency. Patients develop ectopic calcification in skin, eyes, and vascular tissues. ABCC6,... 
PATHOGENESIS | DETERMINES | TRANSPORTER | ABCC6 GENE | PHENOTYPE | DYSTROPHIC CARDIAC CALCIFICATION | ECTOPIC MINERALIZATION | GENERALIZED ARTERIAL CALCIFICATION | MUTATIONS | REPRODUCIBILITY | DERMATOLOGY
Journal Article
American Journal of Medical Genetics A, ISSN 1552-4825, 2010, Volume 152A, Issue 4, pp. 1049 - 1058
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2017, Volume 12, Issue 1, pp. 85 - 13
Journal Article
Science Translational Medicine, ISSN 1946-6234, 06/2017, Volume 9, Issue 393, p. eaal1669
Biallelic mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a disease characterized by calcification in the skin, eyes, and blood vessels. The function... 
MEDICINE, RESEARCH & EXPERIMENTAL | METABOLIC DISEASE | IN-VITRO | ABCC6 GENE | MATRIX GLA PROTEIN | INORGANIC PYROPHOSPHATE | VASCULAR CALCIFICATION | PLASMA PYROPHOSPHATE | DERMAL FIBROBLASTS | GENERALIZED ARTERIAL CALCIFICATION | AORTIC-VALVE CALCIFICATION | CELL BIOLOGY
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 12/2019, Volume 139, Issue 12, pp. 2447 - 2457.e7
Pseudoxanthoma elasticum, a prototype of heritable multisystem ectopic mineralization disorders, is caused by mutations in the ABCC6 gene encoding a putative... 
CONNECTIVE-TISSUE MINERALIZATION | FAMILIAL TUMORAL CALCINOSIS | MOLECULAR-GENETICS | ABCC6 GENE | CARBONIC-ANHYDRASE-II | GLUCOSE-METABOLISM | TARGETED ABLATION | HOMOZYGOUS MISSENSE MUTATION | MICE | GENERALIZED ARTERIAL CALCIFICATION | DERMATOLOGY
Journal Article
Journal Article
Circulation Research, ISSN 0009-7330, 08/2012, Volume 111, Issue 5, pp. 516 - 520
Journal Article
Lipids in Health and Disease, ISSN 1476-511X, 01/2019, Volume 18, Issue 1
BACKGROUND: ATP-binding cassette (ABC) transporters are involved in a huge range of physiological processes. Mutations in the ABCC6 gene cause pseudoxanthoma... 
Journal Article
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, ISSN 0721-832X, 02/2020, Volume 258, Issue 2, pp. 311 - 318
To evaluate the use of 2 mg intravitreal aflibercept for treatment of choroidal neovascularization (CNV) secondary to angioid streaks in patients with... 
EYE | VEGF-TRAP | Choroidal neovascularization | Angioid streaks | ABCC6 | MINERALIZATION | OPHTHALMOLOGY | Pseudoxanthoma elasticum | Anti-VEGF | Aflibercept | INTRAVITREAL AFLIBERCEPT | Retina | Patients | Vision | Quality of life | Acuity | Vascularization
Journal Article