PMC Articles for MedGen (Select 18733) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 302

<< First< Prev

Page of 16

Select item 116088691.

Samuel Rocour, Emeline Vinatier, Céline Fassot, Jonathan Dauvé, Agnès Toutain, Sabrina Fronteau, Marine Monnier, Laurence Preisser, Anne Croué, Olivier Le Saux, Alain Morel, Yves Delneste, Ludovic Martin

Skin Health Dis. 2024 Dec; 4(6): e430. Published online 2024 Nov 26. doi: 10.1002/ski2.430

PMCID:: PMC11608869

Abstract Article PDF–365K

Select item 114668552.

Inorganic pyrophosphate plasma levels in patients with GGCX-associated PXE-like phenotypes

Qiaoli Li, Catherine Troutman, Mary Peckiconis, Tamara Wurst, Sharon F. Terry

Front Genet. 2024; 15: 1429320. Published online 2024 Sep 27. doi: 10.3389/fgene.2024.1429320

PMCID:: PMC11466855

Abstract Article PDF–1.1M

Select item 114385083.

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

Taina Viheriälä, Heidi Hongisto, Lyydia Saari, Marika Oksanen, Tanja Ilmarinen, Suvi Väärämäki, Hannu Uusitalo, Pasi Nevalainen, Heli Skottman

J Ophthalmol. 2024; 2024: 6939920. Published online 2024 Sep 21. doi: 10.1155/2024/6939920

PMCID:: PMC11438508

Abstract Article PDF–2.9M

Select item 114300054.

Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review

Lisa Dangreau, Mohammad J. Hosen, Julie De Zaeytijd, Bart P. Leroy, Paul J. Coucke, Olivier M. Vanakker

Curr Issues Mol Biol. 2024 Sep; 46(9): 9998–10007. Published online 2024 Sep 11. doi: 10.3390/cimb46090597

PMCID:: PMC11430005

Abstract Article PDF–25M

Select item 113548365.

Cyclical Etidronate Reduces the Progression of Arterial Calcifications in Patients with Pseudoxanthoma Elasticum: A 6-Year Prospective Observational Study

Iris M. Harmsen, Tim van den Beukel, Madeleine Kok, Frank L. J. Visseren, Pim A. de Jong, Socrates E. Papapoulos, Wilko Spiering

J Clin Med. 2024 Aug; 13(16): 4612. Published online 2024 Aug 7. doi: 10.3390/jcm13164612

PMCID:: PMC11354836

Abstract Article PDF–912K

Select item 113402646.

EXTENSIVE SUBRETINAL FIBROSIS ASSOCIATED WITH PSEUDOXANTHOMA ELASTICUM

Enny Oyeniran, Henry Wiley, Sunil Bellur, H. Nida Sen, Carlos R. Ferreira, Emily Y. Chew, Shilpa Kodati

Retin Cases Brief Rep. Author manuscript; available in PMC 2024 Aug 22.

Published in final edited form as: Retin Cases Brief Rep. 2024 Jul 1; 18(4): 512–516. doi: 10.1097/ICB.0000000000001425

PMCID:: PMC11340264

Abstract Article PDF–680K

Select item 112974277.

Pseudoxanthoma elasticum, a difficult diagnostic in patient with dark skin

Carla Fassanaro, Morgane Stichelbout, Marc Lambert, Frédéric Dezoteux, Delphine Staumont‐Sallé, Marie Boileau

Skin Health Dis. 2024 Aug; 4(4): e385. Published online 2024 Apr 11. doi: 10.1002/ski2.385

PMCID:: PMC11297427

Abstract Article PDF–783K

Select item 112045708.

Optic Disc Drusen in Pseudoxanthoma Elasticum Are Associated with the Extent of Bruch’s Membrane Calcification

Kristin Raming, Sandrine H. Künzel, Maximilian Pfau, Doris Hendig, Frank G. Holz, Kristina Pfau

J Clin Med. 2024 Jun; 13(12): 3395. Published online 2024 Jun 10. doi: 10.3390/jcm13123395

PMCID:: PMC11204570

Abstract Article PDF–1.3M

Select item 112036919.

A Plasma Pyrophosphate Cutoff Value for Diagnosing Pseudoxanthoma Elasticum

Isabelle Rubera, Laetitia Clotaire, Audrey Laurain, Alexandre Destere, Ludovic Martin, Christophe Duranton, Georges Leftheriotis

Int J Mol Sci. 2024 Jun; 25(12): 6502. Published online 2024 Jun 13. doi: 10.3390/ijms25126502

PMCID:: PMC11203691

Abstract Article PDF–1.2M

Select item 1113846510.

Human xylosyltransferases in health and disease

C. Götting, J. Kuhn, K. Kleesiek

Cell Mol Life Sci. 2007 Jun; 64(12): 1498. Published online 2007 Apr 16. doi: 10.1007/s00018-007-7069-z

PMCID:: PMC11138465

Abstract Article PDF–792K

Select item 1109914611.

Fibroblasts’ secretome from calcified and non-calcified dermis in Pseudoxanthoma elasticum differently contributes to elastin calcification

Francesco Demetrio Lofaro, Sonia Costa, Maria Luisa Simone, Daniela Quaglino, Federica Boraldi

Commun Biol. 2024; 7: 577. Published online 2024 May 16. doi: 10.1038/s42003-024-06283-6

PMCID:: PMC11099146

Abstract Article PDF–3.1M

Select item 1108895412.

Angioid Streaks and Choroidal Neovascular Membrane Secondary to Pseudoxanthoma Elasticum: A Case Report

Liam Redden, Anuradha Mishra

Cureus. 2024 Apr; 16(4): e58104. Published online 2024 Apr 12. doi: 10.7759/cureus.58104

PMCID:: PMC11088954

Abstract Article PDF–591K

Select item 1106228913.

ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency

Carlos R. Ferreira, Thomas O. Carpenter, Demetrios T. Braddock

Annu Rev Pathol. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Annu Rev Pathol. 2024 Jan 24; 19: 507–540. Published online 2023 Oct 23. doi: 10.1146/annurev-pathmechdis-051222-121126

PMCID:: PMC11062289

Abstract Article PDF–1.8M

Select item 1106075514.

A Rare Case of Pseudoxanthoma Elasticum Identified by Ocular Angioid Streaks

Iqra Mushtaq, Khushboo Goyal, Deepaswi Bhavsar, Renu Magdum

Cureus. 2024 Mar; 16(3): e57342. Published online 2024 Mar 31. doi: 10.7759/cureus.57342

PMCID:: PMC11060755

Abstract Article PDF–961K

Select item 1104483915.

Histological Findings in the Eyes of Abcc6 Knockout Rat Model of Pseudoxanthoma Elasticum

Anahita Sehgal, Tatyana Milman, Qiaoli Li, Jose S. Pulido

Transl Vis Sci Technol. 2024 Apr; 13(4): 29. Published online 2024 Apr 24. doi: 10.1167/tvst.13.4.29

PMCID:: PMC11044839

Abstract Article PDF–4.0M

Select item 1095518116.

Pseudoxanthoma elasticum-associated angioid streaks near a scleral buckle

Karen E. Lee, Tobin B.T. Thuma, Mirataollah Salabati, Meera D. Sivalingam, Jose S Pulido, Kammi B. Gunton

Am J Ophthalmol Case Rep. 2024 Jun; 34: 101970. Published online 2023 Dec 7. doi: 10.1016/j.ajoc.2023.101970

PMCID:: PMC10955181

Abstract Article PDF–2.1M

Select item 1088649917.

The Purinergic Nature of Pseudoxanthoma Elasticum

Gilles Kauffenstein, Ludovic Martin, Olivier Le Saux

Biology (Basel) 2024 Feb; 13(2): 74. Published online 2024 Jan 26. doi: 10.3390/biology13020074

PMCID:: PMC10886499

Abstract Article PDF–2.5M

Select item 1078413518.

Plasma lipids in Pseudoxanthoma Elasticum (PXE) patients: A comparative study with population-based reference values and Non-PXE controls

Iris M. Harmsen, Frank L.J. Visseren, Madeleine Kok, Pim A. de Jong, Wilko Spiering

Atheroscler Plus. 2024 Mar; 55: 5–11. Published online 2023 Dec 17. doi: 10.1016/j.athplu.2023.12.003

PMCID:: PMC10784135

Abstract Article PDF–2.8M

Select item 1076665619.

Do pseudoxanthoma elasticum patients have higher prevalence of kidney stones on computed tomography compared to hospital controls?

Iris M. Harmsen, Madeleine Kok, Jonas W. Bartstra, Pim A. de Jong, Wilko Spiering, Wouter Foppen

Clin Exp Nephrol. 2024; 28(1): 75–79. Published online 2023 Oct 14. doi: 10.1007/s10157-023-02405-2

PMCID:: PMC10766656

Abstract Article PDF–354K

Select item 1075899220.

Bruch's Membrane Calcification in Pseudoxanthoma Elasticum: Comparing Histopathology and Clinical Imaging

Sara Risseeuw, Matthew G. Pilgrim, Sergio Bertazzo, Connor N. Brown, Lajos Csincsik, Sarah Fearn, Richard B. Thompson, Arthur A. Bergen, Jacoline B. ten Brink, Elod Kortvely, Wilko Spiering, Jeannette Ossewaarde–van Norel, Redmer van Leeuwen, Imre Lengyel

Ophthalmol Sci. 2024 Mar-Apr; 4(2): 100416. Published online 2023 Oct 24. doi: 10.1016/j.xops.2023.100416