Results 61 to 70 of about 2,523,567 (168)
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 +9 more
openaire +2 more sources
European 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
Clinical, biochemical, and molecular spectrum of nephropathic cystinosis: Two novel CTNS mutations
Saudi Journal of Kidney Diseases and TransplantationBackground: 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 +10 more
doaj +1 more source
Current Protocols, Volume 6, Issue 9, September 2026.Abstract Precision‐cut lung slices (PCLS) represent a physiologically relevant ex vivo model that bridges the gap between simplified in vitro systems and in vivo animal studies by preserving native lung architecture, cellular diversity, and functional responses.
Asal Ahmadi +7 more
wiley +1 more source
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 +9 more
doaj +1 more source
The HEAT Repeat Protein MROH1 Deficiency Leads to Reduced Circulating Thyroid Hormone Levels in Mice
Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.Global Mroh1 deficiency in male mice is associated with reduced circulating thyroid hormone level, late‐onset thyroid follicular remodelling, and lower whole‐thyroid abundance of Nkx2‐1, Foxe1, and Tg transcripts. These findings support a role for MROH1 in maintaining thyroid homeostasis and structural integrity.
Nami Ohuchi +12 more
wiley +1 more source
, 2013 (a) amMSC stably transfected with CTNSRed immunofluorescent protein. (b) CTNSRed in amMSC microvesicles. (c) single confocal plane showing CTNSRed protein in amMSC (circles) and in co-cultured GFP-tagged CTNS(−/−) mutant fibroblasts (arrows). Dashed line
Reyhan El-Kares (311952) +13 more
core +1 more source
Beyond Traditional Screening: The Future of Heart Failure Detection With Biomarkers and AI
iNew Medicine, Volume 2, Issue 3, September 2026.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
Chromosomal Mapping of HumanarmadilloGenes Belonging to the p120ctn/Plakophilin Subfamily
Genomics, 1998 Armadillo-like proteins are characterized by a series of armadillo repeats that are typically 42 to 45 amino acids in length. Three major subfamilies of Armadillo-like proteins can be distinguished on the basis of their number of repeats, their overall sequence similarity, and dispersion of the repeats throughout the protein.
Bonne, Stefan +2 more
openaire +3 more sources
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 +6 more
openaire +2 more sources