Results 41 to 50 of about 1,581 (148)

Beyond Traditional Screening: The Future of Heart Failure Detection With Biomarkers and AI

open access: yesiNew Medicine, EarlyView.
Advancing HF Screening: Integrating Technology and Risk Factors Across Eras. This diagram provides a comprehensive review of the historical developments and projected trends of heart failure (HF) screening methodologies, with the prevalent risk factors for HF depicted at the base.
Xiaofeng Fang   +9 more
wiley   +1 more source

Post‐Transplant Bendamustine as a Platform for Immune Modulation After Allogeneic Hematopoietic Cell Transplantation

open access: yesEuropean Journal of Haematology, EarlyView.
ABSTRACT Post‐transplant cyclophosphamide (PT‐CY) remains the standard of care for graft‐versus‐host disease (GvHD) prophylaxis in haploidentical hematopoietic cell transplantation (HCT), yet relapse, delayed immune reconstitution, infections, and organ toxicity represent persistent and clinically meaningful limitations.
Megan J. Cracchiolo   +2 more
wiley   +1 more source

Potential therapeutic targeting of BKCa channels in glioblastoma treatment

open access: yesMolecular Oncology, Volume 20, Issue 6, Page 1398-1419, June 2026.
This review summarizes current insights into the role of BKCa and mitoBKCa channels in glioblastoma biology, their potential classification as oncochannels, and the emerging pharmacological strategies targeting these channels, emphasizing the translational challenges in developing BKCa‐directed therapies for glioblastoma treatment.
Kamila Maliszewska‐Olejniczak   +4 more
wiley   +1 more source

CDK7 as a Potential Exploratory Biomarker for Distinguishing Acute Myocardial Infarction Subtypes via DDR Pathways: Evidence From a Bangladeshi Cohort

open access: yesClinical Cardiology, Volume 49, Issue 6, June 2026.
Differential expression of DNA damage response genes was evaluated in Bangladeshi AMI patients. CDK7 showed significantly higher expression in NSTEMI compared to STEMI, while ATM, OGG1, and NBN showed no subtype‐specific differences, highlighting potential transcriptional heterogeneity between AMI subtypes.
Rifat Hossain Ripon   +6 more
wiley   +1 more source

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population [PDF]

open access: yesJournal of Medical Genetics, 2001
Editor—Nephropathic cystinosis (MIM 219800) is a rare autosomal recessively inherited lysosomal storage disorder with a newborn incidence of about 1 in 100 000-200 000 in the general population (OMIM). Cystine accumulates in lysosomes because of dysfunctional cystinosin mediated transport of cystine out of lysosomes. The accumulation of cystine results
C A, Rupar, D, Matsell, S, Surry, V, Siu
openaire   +2 more sources

CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants

open access: yesAdvanced Biomedical Research
Background: Nephropathic cystinosis (NC) is an uncommon autosomal recessive disease with abnormality in lysosomal storage that appearances in patients with mutations in the CTNS gene encoding a lysosomal transporter cystinosin. Disrupted function of this
Zahra Mohammadi Chermahini   +5 more
doaj   +1 more source

Chaperone-Mediated Autophagy Upregulation Rescues Megalin Expression and Localization in Cystinotic Proximal Tubule Cells

open access: yesFrontiers in Endocrinology, 2019
Cystinosis is a lysosomal storage disorder caused by defects in CTNS, the gene that encodes the lysosomal cystine transporter cystinosin. Patients with nephropathic cystinosis are characterized by endocrine defects, defective proximal tubule cell (PTC ...
Jinzhong Zhang   +6 more
doaj   +1 more source

Isolated Corticospinal Tract Lesions as an Early Manifestation of Adrenoleukodystrophy in Children

open access: yesAnnals of the Child Neurology Society, Volume 4, Issue 2, Page 117-124, June 2026.
ABSTRACT Purpose X‐linked adrenoleukodystrophy (ALD) encompasses a wide range of neurological manifestations, classically described as distinct phenotypes including childhood cerebral adrenoleukodystrophy and adult‐onset adrenomyeloneuropathy (AMN).
Elle Winter   +7 more
wiley   +1 more source

Status Epilepticus Alters the Function of Brain‐Derived Extracellular Vesicles

open access: yesJournal of Extracellular Vesicles, Volume 15, Issue 6, June 2026.
ABSTRACT Epilepsy is a neurological disorder characterised by recurrent spontaneous seizures. Approximately 30% of patients are unable to achieve adequate seizure control with available medications, highlighting the need to better understand disease mechanisms and develop improved treatments.
Samantha L. Reed   +6 more
wiley   +1 more source

Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties

open access: yes, 2023
ABSTRACT Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but therapeutic advances have led to substantially increased life expectancy ...
Ana A. Francisco   +4 more
openaire   +2 more sources

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