Results 101 to 110 of about 3,070 (212)

Nasal Epithelial Immune Signatures Are Associated With Age‐Dependent Asthma Trajectories in Early Life

open access: yesAllergy, Volume 81, Issue 10, Page 3533-3553, October 2026.
Nasal epithelial transcriptomics identified three cytokine‐associated epithelial immune programs linked to childhood asthma phenotypes. Age‐associated epithelial polarization shifted from IFN/type‐17‐associated toward type‐2‐associated programs after 3 years of age.
Constanze A. Jakwerth   +71 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, Volume 117, Issue 4, Page 739-749, October 2026.
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

Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis

open access: yesFrontiers in Immunology
Cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene that encodes cystinosin, a ubiquitous lysosomal cystine/H+ antiporter.
Marianna Nicoletta Rossi   +13 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

open access: yes
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman   +18 more
wiley   +1 more source

Effect of ELX-02 in CTNSY226X/Y226X mice.

open access: yes, 2019
A. Half-cystine measurements show decrease pathologic accumulation in kidneys of CtnsY226X/Y226X mice treated with 7 injections of ELX-02 (10 mg/kg) over a 3-week period. B. Serum creatinine levels show no toxic effect of repeated ELX-02 treatment (50 mg/
Pedro Huertas (4891903)   +9 more
core   +1 more source

CTN Multiple Comparisons Procedures SOP

open access: yes, 2016
This procedure is intended for the Lead Investigator and Protocol Development Team within the Clinical Trials Network as guidance for the consideration of multiple statistical comparisons within a protocol.  The Statistics Workgroup of the Data Management and Analysis Subcommittee will examine the proposed rationale for addressing multiple comparisons ...
openaire   +1 more source

Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells

open access: yes
Cystinosis is an autosomal recessive disease caused by mutations in the CTNS gene encoding a protein called cystinosine, which is a lysosomal cystine transporter.
Gok-Topak, Elif Damla Go   +12 more
core   +1 more source

CTNS mutations in publicly-available human cystinosis cell lines

open access: yes, 2015
Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information.
Renee Kinkade   +3 more
core   +1 more source

Phenotypic variability in cystinosis: Lessons from an atypical case

open access: yesNefrología (English Edition)
Cystinosis is a rare monogenic autosomal recessive disorder caused by pathogenic variants in the CTNS gene, encoding cystinosin. Loss-of-function of cystinosin leads to intralysosomal cystine accumulation, resulting in cellular dysfunction and ...
Diego Toso   +5 more
doaj   +1 more source

Effect of ELX-02 on pathologic cystine accumulation and mRNA levels in CTNSW138X/del57kb fibroblasts (WG2379).

open access: yes, 2019
A. Half-cystine per mg protein after 72-hour exposure to ELX-02 (200 and 400 μg/mL) was 53% of untreated baseline. B. CTNS transcript levels (RT-qPCR) were increased in CTNSW138X/del57kl fibroblasts treated with ELX-02 (200 and 400 μg/mL) for 72 h ...
Pedro Huertas (4891903)   +9 more
core   +1 more source

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