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Quoted phrase not found in phrase index: "Pseudoxanthoma elasticum, forme fruste"
Page 1
Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.
Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q. Saeidian AH, et al. Genet Med. 2022 Jan;24(1):75-86. doi: 10.1016/j.gim.2021.08.011. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906475 Free PMC article.
A total of 159 distinct variants were identified in 425 patients in ABCC6, the gene responsible for pseudoxanthoma elasticum, a heritable multisystem ectopic mineralization disorder. ...
A total of 159 distinct variants were identified in 425 patients in ABCC6, the gene responsible for pseudoxanthoma elasticum, …
Pseudoxanthoma elasticum.
Germain DP. Germain DP. Orphanet J Rare Dis. 2017 May 10;12(1):85. doi: 10.1186/s13023-017-0639-8. Orphanet J Rare Dis. 2017. PMID: 28486967 Free PMC article. Review.
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. ...
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the …
Reticular pseudodrusen: current understanding.
Wightman AJ, Guymer RH. Wightman AJ, et al. Clin Exp Optom. 2019 Sep;102(5):455-462. doi: 10.1111/cxo.12842. Epub 2018 Oct 8. Clin Exp Optom. 2019. PMID: 30298528 Free article. Review.
Reticular pseudodrusen are also found in other diseases, most notably Sorsby's fundus dystrophy, pseudoxanthoma elasticum and acquired vitelliform lesions. They are found more frequently in females, with increased age and more commonly bilaterally than unilaterally. …
Reticular pseudodrusen are also found in other diseases, most notably Sorsby's fundus dystrophy, pseudoxanthoma elasticum and …
Genotype-phenotype correlation in pseudoxanthoma elasticum.
Bartstra JW, Risseeuw S, de Jong PA, van Os B, Kalsbeek L, Mol C, Baas AF, Verschuere S, Vanakker O, Florijn RJ, Hendrikse J, Mali W, Imhof S, Ossewaarde-van Norel J, van Leeuwen R, Spiering W. Bartstra JW, et al. Atherosclerosis. 2021 May;324:18-26. doi: 10.1016/j.atherosclerosis.2021.03.012. Epub 2021 Mar 13. Atherosclerosis. 2021. PMID: 33812167 Free article.
BACKGROUND AND AIMS: Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. ...Arterial calcification mass was quantified on whole body, low dose CT scans; and peripheral arterial disease was measured with the ankle brachial index after treadmill te …
BACKGROUND AND AIMS: Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. ...Arterial calcification mass wa …
ABCC6 deficiency promotes dyslipidemia and atherosclerosis.
Brampton C, Pomozi V, Chen LH, Apana A, McCurdy S, Zoll J, Boisvert WA, Lambert G, Henrion D, Blanchard S, Kuo S, Leftheriotis G, Martin L, Le Saux O. Brampton C, et al. Sci Rep. 2021 Feb 16;11(1):3881. doi: 10.1038/s41598-021-82966-y. Sci Rep. 2021. PMID: 33594095 Free PMC article.
The present study addressed the role of ABCC6 in atherosclerosis using Ldlr(-/-) mice and pseudoxanthoma elasticum (PXE) patients. Mice lacking the Abcc6 and Ldlr genes were fed an atherogenic diet for 16 weeks before intimal calcification, aortic plaque formation a …
The present study addressed the role of ABCC6 in atherosclerosis using Ldlr(-/-) mice and pseudoxanthoma elasticum (PXE) patie …
Non-exudative macular neovascularization in pseudoxanthoma elasticum.
Marques JP, Bernardes J, Geada S, Soares M, Teixeira D, Farinha C, Pires I, Cachulo ML, Silva R. Marques JP, et al. Graefes Arch Clin Exp Ophthalmol. 2021 Apr;259(4):873-882. doi: 10.1007/s00417-020-04979-z. Epub 2020 Oct 19. Graefes Arch Clin Exp Ophthalmol. 2021. PMID: 33074374
PURPOSE: To characterize morphological changes in the retina and to report the frequency and natural history of non-exudative macular neovascularization (MNV) in a cohort of pseudoxanthoma elasticum (PXE). METHODS: A single-center, retrospective study was complement …
PURPOSE: To characterize morphological changes in the retina and to report the frequency and natural history of non-exudative macular neovas …
Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC, Chen FK. Heath Jeffery RC, et al. Surv Ophthalmol. 2024 Jan-Feb;69(1):1-23. doi: 10.1016/j.survophthal.2023.07.007. Epub 2023 Aug 6. Surv Ophthalmol. 2024. PMID: 37544613 Free article. Review.
MNV is a well-known complication of Sorsby fundus dystrophy and pseudoxanthoma elasticum. Those with late-onset Stargardt disease may masquerade as exudative age-related macular degeneration (AMD) when MNV is the presenting feature. ...
MNV is a well-known complication of Sorsby fundus dystrophy and pseudoxanthoma elasticum. Those with late-onset Stargardt dise …
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y, Rutsch F. Nitschke Y, et al. Curr Osteoporos Rep. 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. Curr Osteoporos Rep. 2017. PMID: 28585220 Review.
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum …
Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellu …
Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders.
Li Q, Arányi T, Váradi A, Terry SF, Uitto J. Li Q, et al. J Invest Dermatol. 2016 Mar;136(3):550-556. doi: 10.1016/j.jid.2015.10.065. J Invest Dermatol. 2016. PMID: 26902123 Free PMC article. Review.
Heritable ectopic mineralization disorders represent a phenotypically diverse group of conditions characterized by deposition of calcium phosphate complexes in soft connective tissues. The prototype of such conditions is pseudoxanthoma elasticum, and related conditi …
Heritable ectopic mineralization disorders represent a phenotypically diverse group of conditions characterized by deposition of calcium pho …
Angioid streaks.
Donaldson EJ. Donaldson EJ. Aust J Ophthalmol. 1983 Feb;11(1):55-8. Aust J Ophthalmol. 1983. PMID: 6870682
Gronblad proposed in 1929 that they followed disruption of the elastic layer of Bruch's membrane, having noted the association between angioid streaks and pseudoxanthoma elasticum. Several other diseases have been associated with angioid streaks, including Paget's d …
Gronblad proposed in 1929 that they followed disruption of the elastic layer of Bruch's membrane, having noted the association between angio …
248 results