Results 51 to 60 of about 1,591 (146)

Potential therapeutic targeting of BKCa channels in glioblastoma treatment

Molecular 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, Karolina Pytlak, Sandra Jaworowska, Bogusz Kulawiak, Piotr Bednarczyk   +4 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

, 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, John J. Foxe, Alaina Berruti, Douwe J. Horsthuis, Sophie Molholm   +4 more
openaire   +2 more sources

The Genomic Region Encompassing the Nephropathic Cystinosis Gene (CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion [PDF]

Genome Research, 2000
Nephropathic cystinosis is an autosomal recessive disorder caused by the defective transport of cystine out of lysosomes. Recently, the causative gene (CTNS) was identified and presumed to encode an integral membrane protein called cystinosin. Many of the disease-associated mutations inCTNSare deletions, including one >55 kb in size that represents ...
J W, Touchman, Y, Anikster, N L, Dietrich, V V, Maduro, G, McDowell, V, Shotelersuk, G G, Bouffard, S M, Beckstrom-Sternberg, W A, Gahl, E D, Green   +9 more
openaire   +2 more sources

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

Clinical 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, Hasnat Zahin, Abdullah Al Noman, Abdullah Al Saba, Mohammad Sayem, A.H.M. Nurun Nabi, Tahirah Yasmin   +6 more
wiley   +1 more source

Clinical, biochemical, and molecular spectrum of nephropathic cystinosis: Two novel CTNS mutations

Saudi Journal of Kidney Diseases and Transplantation
Background: Nephropathic cystinosis (NC) is an autosomal recessive disease. Mutations in the CTNS gene encoding the lysosomal membrane cystine transporter cystinosin are identified as the molecular basis of cystinosis.
Zeinab Youssef Abdallah, Rasha Helmy, Walaa S. Nazim, Marwa M. Nabhan, Hanan Abdelaziz, Hala N. Soliman, Ahmed K. Saad, Mona Ibrahim, Amr Sobhi Gouda, Ekram Fateen, Neveen A. Soliman   +10 more
doaj   +1 more source

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

Annals 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, Amanda Nagy, Yedda Li, Otto Rapalino, Catherine L. Becker, Joseph Locascio, Camilo Jaimes, Florian Eichler   +7 more
wiley   +1 more source

The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis.

PLoS ONE, 2019
BACKGROUND:Cystinosis is a rare disorder caused by recessive mutations of the CTNS gene. Current therapy decreases cystine accumulation, thus slowing organ deterioration without reversing renal Fanconi syndrome or preventing eventual need for a kidney ...
Emma J Brasell, Lee Lee Chu, Murielle M Akpa, Idit Eshkar-Oren, Iris Alroy, Rachel Corsini, Brian M Gilfix, Yojiro Yamanaka, Pedro Huertas, Paul Goodyer   +9 more
doaj   +1 more source

Status Epilepticus Alters the Function of Brain‐Derived Extracellular Vesicles

Journal 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, Yilin Wang, Yangping Li, Guoku Hu, Jingjing Yang, Bing Yao, Andrew Escayg   +6 more
wiley   +1 more source

Decreased expression of catenins (? and ?), p120 CTN, and E-cadherin cell adhesion proteins and E-cadherin gene promoter methylation in prostatic adenocarcinomas [PDF]

Cancer, 2001
Catenin/E-cadherin complex proteins play an important role in cell-cell adhesion with decreased expression correlating with adverse prognostic variables in several human malignancies.Archival formalin fixed, paraffin embedded (FFPE) sections from 118 prostatic adenocarcinomas (PACs) were immunostained by an automated method (Ventana Medical Systems ...
B V, Kallakury, C E, Sheehan, E, Winn-Deen, J, Oliver, H A, Fisher, R P, Kaufman, J S, Ross   +6 more
openaire   +2 more sources

Differential gene expression in patients with subsyndromal symptomatic depression and major depressive disorder.

PLoS ONE, 2017
BackgroundSubsyndromal symptomatic depression (SSD) is a subtype of subthreshold depressive and can lead to significant psychosocial functional impairment.
Chengqing Yang, Guoqin Hu, Zezhi Li, Qingzhong Wang, Xuemei Wang, Chengmei Yuan, Zuowei Wang, Wu Hong, Weihong Lu, Lan Cao, Jun Chen, Yong Wang, Shunying Yu, Yimin Zhou, Zhenghui Yi, Yiru Fang   +15 more
doaj   +1 more source