Results 41 to 50 of about 5,205 (214)

The Long Pentraxin PTX3 Is an Endogenous Inhibitor of Hyperoxaluria-Related Nephrocalcinosis and Chronic Kidney Disease

Frontiers in Immunology, 2018
The long pentraxin 3 (PTX3) exerts a variety of regulatory functions in acute and chronic tissue inflammation. In particular, PTX3 acts as an opsonin for a variety of pathogens and endogenous particles.
Julian A. Marschner, Shrikant R. Mulay, Stefanie Steiger, Lidia Anguiano, Zhibo Zhao, Peter Boor, Khosrow Rahimi, Antonio Inforzato, Antonio Inforzato, Cecilia Garlanda, Cecilia Garlanda, Alberto Mantovani, Alberto Mantovani, Hans-Joachim Anders   +13 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Folding defects leading to primary hyperoxaluria

, 2017
Protein misfolding is becoming one of the main mechanisms underlying inherited enzymatic deficits. This review is focused on primary hyperoxalurias, a group of disorders of glyoxylate detoxification associated with massive calcium oxalate deposition ...
VOLTATTORNI, Carla, Elisa Oppici, Carolina Conter, Mirco Dindo, DINDO, MIRCO, Carla Borri Voltattorni, Barbara Cellini, OPPICI, Elisa, CONTER, CAROLINA, Cellini, Barbara   +9 more
core   +1 more source

A hidden cause of oxalate nephropathy: a case report

Journal of Medical Case Reports, 2021
Background Oxalate nephropathy is a rare disorder that can result in acute kidney injury (AKI) and progresses to end-stage kidney disease (ESKD). The causes can be either primary or secondary.
Tala Mahmoud, Elias C. Ghandour, Bernard G. Jaar   +2 more
doaj   +1 more source

Renal function can be impaired in children with primary hyperoxaluria type 3 [PDF]

, 2015
BACKGROUND Primary hyperoxaluria type 3 (PH3) is characterized by mutations in the 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene. PH3 patients are believed to present with a less severe phenotype than those with PH1 and PH2, but the clinical ...
Cachat, François, Cochat, Pierre, Fichtner, Christine, Macher, Marie-Alice, Acquaviva-Bourdain, Cécile, Allard, Lise, Leclerc, Anne-Laure, De Souza, Vandréa Carla, Bacchetta, Justine, Camoin-Schweitzer, Marie-Christine, Garcia, Clotilde Druck   +10 more
core   +1 more source

Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II

, 2002
Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II.BackgroundHyperoxaluria may be idiopathic, secondary, or due to primary hyperoxaluria (PH).
Milliner, Dawn S., Monico, Carla G., Ford, G. Charles, Rumsby, Gill, Carla G. Monico, Persson, Mai, Mai Persson, Gill Rumsby, Dawn S. Milliner, G. Charles Ford   +9 more
core   +1 more source

Scanning electron microscopy—a powerful imaging technique for the clinician

Comptes Rendus. Chimie, 2021
Since its first use several decades ago, scanning electron microscopy has been used in numerous investigations dedicated to biological systems. This contribution focuses on observations on pathological calcifications in order to review several major ...
Bazin, Dominique, Bouderlique, Elise, Daudon, Michel, Frochot, Vincent, Haymann, Jean-Philippe, Letavernier, Emmanuel, Tielens, Frederik, Weil, Raphaël   +7 more
doaj   +1 more source

More Than a Question of Correlation: Characterization of the Evidentiary Basis for Biomarker Surrogates Used in European Marketing Authorizations

Clinical Pharmacology &Therapeutics, Volume 119, Issue 6, Page 1522-1536, June 2026.
Traditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Renske Johanna Grupstra, Viktoriia Starokozhko, Elisabeth Bakker, Anna Maria Gerdina Pasmooij, Peter Gerardus Maria Mol   +4 more
wiley   +1 more source

Tipping point and molecular mechanism of the transformation of lung adenocarcinoma in situ to invasive adenocarcinoma: A study based on dynamic network markers in systems biology

Clinical and Translational Discovery, Volume 6, Issue 3, June 2026.
A dynamic network biomarker (DNBs) linking the transformation from lung AIS to IAC. Key differential genes and pathways were identified, establishing MIA as the critical tipping point for transformation. Abstract Background Lung adenocarcinoma in situ (AIS), characterised by ground‐glass nodules as observed in computed tomography imaging, generally ...
Lin Shi, Longfu Zhang, Jiebai Zhou, Dawei Yang, Mingxiang Feng, Yong Zhang   +5 more
wiley   +1 more source

Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: A potential therapy for primary hyperoxaluria

, 2005
Pyridoxamine lowers kidney crystals in experimental hyperoxaluria: A potential therapy for primary hyperoxaluria.BackgroundPrimary hyperoxaluria is a rare genetic disorder of glyoxylate metabolism that results in overproduction of oxalate. The disease is
Kim, Daniel, Hudson, Billy G., Belmont, John M., Sergei V. Chetyrkin, Daniel Kim, Chetyrkin, Sergei V., Paul A. Voziyan, Scheinman, J.O.N. I., Voziyan, Paul A., J.O.N. I. Scheinman, John M. Belmont, Billy G. Hudson   +11 more
core   +1 more source