Results 71 to 80 of about 4,370 (200)

Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.

open access: yes, 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   +5 more
core   +1 more source

Pseudoxanthoma elasticum. Case presentation

open access: yesMedisur, 2009
The case of a female patient of 23 years of age is presented. The patient attended to the dermatology consultation in her health area for skin lesions in the neck area, of 10 years of evolution with new lesions after three years in different parts of her
Graciela Caridad Cabrera Acea   +2 more
doaj   +2 more sources

Pseudoxanthoma elasticum with periumbilical perforation in a Nullipara

open access: yesIndian Journal of Dermatology, 2012
Pseudoxanthoma elasticum (PXE) is an inherited multisystem disorder that primarily affects the skin and is characterized by progressive calcification and degeneration of the elastic fibers. PXE has recently been found to be caused by mutations in the ATP-
Parimalam Kumar   +3 more
doaj   +1 more source

Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa

open access: yesOral Diseases, Volume 31, Issue 6, Page 1900-1908, June 2025.
ABSTRACT Introduction Junctional epidermolysis bullosa (JEB) is a rare genetic disease manifesting with skin and mucosal blistering. As part of the JEB, patients present with syndromic amelogenesis imperfecta (AI). Reports have described external crown resorption (ECR) in the teeth of patients with JEB, but its prevalence is unknown.
Colomba Besa‐Witto   +6 more
wiley   +1 more source

Vitamin K preserves gamma‐glutamyl carboxylase activity against carbamylations in uremia: Implications for vascular calcification and adjunct therapies

open access: yesActa Physiologica, Volume 241, Issue 5, May 2025.
The source of the GGCX protein structure is uniprot, (image in the upper left of the graphical): this is the weblink: https://www.uniprot.org/uniprotkb/P38435/entry Abstract Aim Vascular calcification contributes to morbidity and mortality in aging and is accelerated in diabetes and in chronic kidney disease. Matrix Gla Protein is a potent inhibitor of
Nadine Kaesler   +12 more
wiley   +1 more source

A Case of Pseudoxanthoma-elasticum-like Papillary Dermal Elastolysis [PDF]

open access: yes, 2006
Pseudoxanthoma elasticum-Like papillary dermal elastolysis is a disorder of the dermis, characterized by clinical features similar to pseudoxanthoma elasticum and the pathologic features of elastolysis limited to the papillary dermis, such as sun ...
이주희, 이광훈
core  

Pharmacokinetics and Safety of Oral Pyrophosphate in Systemic Sclerosis Patients—A Pilot Study

open access: yesACR Open Rheumatology, Volume 7, Issue 4, April 2025.
Objective Calcinosis is a manifestation of systemic sclerosis with a severe negative impact on quality of life. Efforts to find a treatment for calcinosis have been hindered by our limited understanding of the underlying pathomechanism. We propose that extracellular pyrophosphate deficiency may have a causal role in the formation of these mineralized ...
Gergely Bodor   +5 more
wiley   +1 more source

Central Retinal Artery Occlusion in a Patient with Pseudoxanthoma Elasticum [PDF]

open access: yes, 2006
We examined a patient with central retinal artery occlusion (CRAO) who was diagnosed as having pseudoxanthoma elasticum and exhibited angioid streaks. Echocardiography revealed stenosis and plaques of the right carotid artery. Magnetic resonance imaging (
Ozaki, Mineo, Takeshita, Tetsuji
core  

Hypotony Maculopathy Related to Anti-VEGF Intravitreal Injection

open access: yesInternational Medical Case Reports Journal, 2022
Mário Lima-Fontes,1 Gonçalo Godinho,2 Ana Maria Cunha,1 Carolina Madeira,3 Manuel Falcão,1,4 Fernando Falcão-Reis,1,4 Ângela Carneiro1,4 1Department of Ophthalmology, Centro Hospitalar Universitário São João, Porto, Portugal; 2Department of Ophthalmology,
Lima-Fontes M   +6 more
doaj  

Pseudoxanthoma Elasticum (PXE)

open access: yes, 1970
Pseudoxanthoma elasticum (PXE) Right eye shows angiod streaks with associated hemorrhage. Patient was 25 year old man who developed a right sided carotid cavernous fistula. Anatomy: Retina. Pathology: Pseudoxanthoma elasticum (PXE).
William F. Hoyt, MD
core  

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