Results 31 to 40 of about 8,705 (254)

Therapy of Pseudoxanthoma Elasticum: Current Knowledge and Future Perspectives

Biomedicines, 2021
Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease with an estimated prevalence of between 1 per 25,000 and 56,000. Its main hallmarks are characteristic skin lesions, development of choroidal neovascularization, and early-onset ...
M. J. Stumpf, N. Schahab, G. Nickenig, D. Skowasch, C. Schaefer   +4 more
semanticscholar   +1 more source

Advances in Pseudoxanthoma Elasticum

罕见病研究, 2023
Pseudoxanthoma elasticum(PXE) is a rare, genetic, metabolic disease characterized by ectopic calcification of connective tissue that primarily affects the skin, retina and cardiovascular system, which characteristic histopathology is calcification and ...
WANG Huifen, ZHAI Zhifang
doaj   +1 more source

Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum

Experimental Dermatology, 2021
Pseudoxanthoma elasticum (PXE; OMIM 264800) is a rare heritable multisystem disorder, characterized by ectopic mineralization affecting elastic fibres in the skin, eyes and the cardiovascular system.
E. Kozák, K. Fülöp, N. Tőkési, Nidhi Rao, Qiaoli Li, S. Terry, J. Uitto, Xiaoming Zhang, C. Becker, A. Váradi, V. Pomozi   +10 more
semanticscholar   +1 more source

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region [PDF]

, 2010
Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing
Chassaing, N, Costrop, Laura, Coucke, Paul, De Paepe, Anne, Guerra, D, Le Saux, Olivier, Martin, L, Pasquali-Ronchetti, I, Van Laer, Lut, Vanakker, Olivier   +9 more
core   +2 more sources

Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score

Journal of Clinical Medicine, 2021
Background: Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification genetic disease mainly caused by ABCC6 rare sequence variants. The clinical phenotype is characterized by typical dermatological, ophthalmological and cardiovascular ...
F. Boraldi, V. Murro, F. Lofaro, D. Mucciolo, Sónia Costa, L. Pavese, D. Quaglino   +6 more
semanticscholar   +1 more source

Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations. [PDF]

, 2015
Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder characterized by ectopic mineralization, is caused by mutations in the ABCC6 gene. We examined clinically 29 Chinese PXE patients from unrelated families, so far the largest cohort of Asian ...
Jiang, Qiujie, Jin, Liang, Shao, Changxia, Uitto, Jouni, Wang, Gang, Wu, Zhengsheng, Yang, Luting, Zhou, Yong   +7 more
core   +3 more sources

Minocycline attenuates excessive DNA damage response and reduces ectopic calcification in pseudoxanthoma elasticum.

Journal of Investigative Dermatology, 2021
Pseudoxanthoma elasticum (PXE) is a hereditary ectopic calcification disorder affecting the skin, eyes and blood vessels. Recently, the DNA damage response (DDR), in particular poly(ADP-ribose) polymerase 1 (PARP1), was shown to be involved in aberrant ...
L. Nollet, M. Van Gils, A. Willaert, P. Coucke, O. Vanakker   +4 more
semanticscholar   +1 more source

Coordinated orphan disease research : yes, we can! [PDF]

, 2013
ABC transporters represent a large family of ATP-driven transmembrane transporters involved in uni- or bidirectional transfer of a large variety of substrates.
Vanakker, Olivier
core   +6 more sources

From variome to phenome : pathogenesis, diagnosis and management of ectopic mineralization disorders [PDF]

, 2015
Ectopic mineralization - inappropriate biomineralization in soft tissues - is a frequent finding in physiological aging processes and several common disorders, which can be associated with significant morbidity and mortality.
De Vilder, eva, Vanakker, Olivier
core   +2 more sources

Autofluorescence Imaging of the Skin Is an Objective Non-Invasive Technique for Diagnosing Pseudoxanthoma Elasticum

Diagnostics, 2021
Pseudoxanthoma elasticum (PXE) is a rare multisystemic autosomal recessive connective tissue disease. In most cases, skin manifestations of PXE are the first to develop, followed later by severe ocular and cardiovascular complications.
K. Farkas, S. Bozsányi, Dóra Plázár, A. Bánvölgyi, L. Fésűs, P. Anker, S. Zakariás, I. Lihacova, A. Lihachev, M. Lange, T. Arányi, N. Wikonkál, M. Medvecz, N. Kiss   +13 more
semanticscholar   +1 more source