Results 81 to 90 of about 1,540 (169)

Novel Human Induced Pluripotent Stem Cell-Based Model for Retinal Pigment Epithelial Cells to Reveal Possible Disease Mechanisms for Macular Degeneration in Pseudoxanthoma Elasticum

Journal of Ophthalmology
Pseudoxanthoma elasticum (PXE) is a rare metabolic disease with autosomal recessive inheritance. The manifestation in PXE is represented by retinal complications, pseudoxanthomas of the skin folding areas, and arterial calcification.
Taina Viheriälä, Heidi Hongisto, Lyydia Saari, Marika Oksanen, Tanja Ilmarinen, Suvi Väärämäki, Hannu Uusitalo, Pasi Nevalainen, Heli Skottman   +8 more
doaj   +1 more source

Lipodermatosclerosis-like clinical presentation with PXE-like histopathology in a patient with newly diagnosed vascular Ehlers-Danlos syndrome. [PDF]

JAAD Case Rep
Graham O, Singh K, Chow P, Khanna U.
europepmc   +1 more source

500 A novel Abcc6 knockout rat model of PXE: Perfusion studies revealed the critical role of liver in PXE [PDF]

Journal of Investigative Dermatology, 2017
Q. Li, J. Kingman, K. van de Wetering, S. Tannouri, J. Sundberg, J. Uitto   +5 more
openaire   +1 more source

Long-term survival and phenotypic expansion in siblings with generalized arterial calcification of infancy. [PDF]

JCEM Case Rep
Resnick O, Ashraf A.
europepmc   +1 more source

Workshop on Pxe

Journal of Investigative Dermatology, 1992
openaire   +1 more source

Identification of a Novel Pathogenic ABCC6 Mutation Through Familial Genetic Analysis in Pseudoxanthoma Elasticum: A Case Report. [PDF]

Cureus
Liang L, Li R, Ren D, Zhou Y.
europepmc   +1 more source

Heterozygous ABCC6 mutation in a patient with sickle cell disease: Pseudoxanthoma elasticum or pseudoxanthoma elasticum-like phenotype? [PDF]

JAAD Case Rep
Camuñas JC, Rodríguez Martínez BC, Pabón-González F, Medina-Figueroa M, Martin R.   +4 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

The liver regulates ectopic calcification in Abcc6-deficient models of pseudoxanthoma elasticum. [PDF]

J Clin Invest
Wang Y, Sun B, Ma F, Tao B, Gu Y, Zhou Z, Kim J, Zhang L, Liu Z, Ten Hoeve J, Stiles L, Fernandez Del Rio L, Pan C, Shirihai O, Xu S, Graeber TG, Sallam T, Pellegrini M, Lusis AJ, Deb A.   +19 more
europepmc   +1 more source

Ocular Manifestations Leading to the Diagnosis of Pseudoxanthoma Elasticum with a Novel Heterozygous ABCC6 Mutation: A Case Report. [PDF]

Case Rep Dermatol
Fukuta A, Iwata Y, Yasuda R, Iwanaga A, Murota H, Sugiura K.   +5 more
europepmc   +1 more source