Results 91 to 100 of about 6,809 (242)

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

Acta 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, Suresh Kaushik, Janina Frisch, Susanne Ziegler, Jochen Grommes, Alexander Gombert, Leticia Prates Roma, Christoph Kuppe, Joachim Jankowski, Jürgen Floege, Sofia de la Puente‐Secades, Rafael Kramann, Vera Jankowski   +12 more
wiley   +1 more source

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

ACR 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, Márta Bocskai, Ágnes Dura, László Kovács, András Váradi, Eszter Kozák   +5 more
wiley   +1 more source

Pseudoxanthoma Elasticum: Case Report

, 2022
Pseudoxanthoma elasticum (PXE) is a rare multisystem genetic disorder with estimated prevalence of 1 in 25,000. It is characterised by calcification of the elastic fibres in the skin, eyes and cardiovascular system which can lead to loss of visual acuity
Esther Myint, Than Than Htwe, Roger Kim, Vallapan Thiruvilangam, Gerald Murphy   +4 more
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Pseudoxanthoma elasticum with periumbilical perforation in a Nullipara

Indian 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, Athilakshmi Sivasubramanian, Sampath Vadivel, Manoharan Krishnaswamy   +3 more
doaj   +1 more source

Multimodal fundus imaging of pseudoxanthoma elasticum

, 2011
PURPOSE: To investigate spectral domain optical coherence tomography and autofluorescence findings in eyes with pseudoxanthoma elasticum. METHODS: A retrospective analysis of visual acuity, spectral domain optical coherence tomography, and ...
Freund, K B, Zweifel, S A, Imamura, Y, K Bailey Freund, Yutaka Imamura, Richard F Spaide, Spaide, R F, Sandrine A Zweifel   +7 more
core   +1 more source

De Novo Autosomal Dominant Cutis Laxa Type 3 With Global Developmental Delay and Musculoskeletal Features of Refractory Rickets

Clinical Case Reports, Volume 13, Issue 3, March 2025.
ABSTRACT Cutis laxa is a genetically heterogeneous disorder characterized primarily by loose, redundant skin with abnormal wrinkling and elasticity. It is an exceptionally rare condition, with an estimated prevalence of < 1 in 1,000,000 individuals. In addition to the distinctive cutaneous manifestations, cutis laxa can present with a constellation of ...
Subhangi Chandan, Jay Gohri, Arshia Jolly, Mayuri Chaurasia   +3 more
wiley   +1 more source

Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Glycerophospholipids (GPLs) are the main lipid components of cellular membranes. They are implicated in membrane structure, vesicle trafficking, neurotransmission, and cell signalling. GPL molecules are amphiphilic, organized around the three carbons of glycerol. Positions sn‐1 and sn‐2 are each esterified to a fatty acid (FA).
Foudil Lamari, Francis Rossignol, Grant A. Mitchell   +2 more
wiley   +1 more source

Acute Retinopathy in Pseudoxanthoma Elasticum.

JAMA ophthalmology, 2019
Importance Acute retinopathy may partly explain variable disease manifestation and vision loss in patients with pseudoxanthoma elasticum (PXE). The diagnosis of this likely autoimmune process may inform patient counseling and treatment approaches ...
M. Gliem, J. Birtel, P. Müller, D. Hendig, Isabel Faust, P. Herrmann, F. Holz, G. Adamus, P. Charbel Issa   +8 more
semanticscholar   +1 more source

Hypotony Maculopathy Related to Anti-VEGF Intravitreal Injection

International 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, Godinho G, Cunha AM, Madeira C, Falcão M, Falcão-Reis F, Carneiro    +6 more
doaj  

Pseudoxanthoma Elasticum (PXE)

, 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
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