Results 81 to 90 of about 2,192 (190)

A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement

open access: yesFrontiers in Pediatrics, 2019
Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement with cystine stones and nervous involvement with ...
Francesca Taroni   +6 more
doaj   +1 more source

Analysis of SLC genes alternative splicing identifies the SLC7A6 RI isoform as a therapeutic target for colorectal cancer

open access: yesCancer Science, Volume 116, Issue 1, Page 233-247, January 2025.
Our study elucidated solute carrier alternative splicing in colon adenocarcinoma, highlighting its potential as a prognostic and therapeutic target and emphasizing the suppressive influence of SLC7A6‐RI in colon cancer progression. Abstract Alternative splicing (AS), a crucial mechanism in post‐transcriptional regulation, has been implicated in diverse
Chao Sun   +9 more
wiley   +1 more source

Association of EP2 receptor and SLC19A3 in regulating breast cancer metastasis [PDF]

open access: yes, 2015
published_or_final_versio
Chen, J   +8 more
core  

LPAR5, GNAT3 and partial amino acid transporters messenger RNA expression patterns in digestive tracts, metabolic organs and muscle tissues of growing goats

open access: yesAnimal, 2019
Sufficient amino acid (AA) transport is essential to ensure the normal physiological function and growth of growing animals. The processes of AA sensing and transport in humans and murine animals, but rarely in goats, have been arousing great interest ...
X. Zhu   +7 more
doaj   +1 more source

An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients

open access: yesMolecular Genetics and Metabolism, 2008
Mol Genet ...
Chatzikyriakidou, A.   +5 more
openaire   +3 more sources

Customizing carrier screening in the Chinese population: Insights from a 334‐gene panel

open access: yesPrenatal Diagnosis, Volume 44, Issue 11, Page 1335-1343, October 2024.
Abstract Objective This study aimed to evaluate the yield and applicability of expanded carrier screening and propose carrier rate screening thresholds suitable for the Chinese population by comparing the current screening panel with the American College of Medical Genetics and Genomics recommended panel of 113 genes.
Sha Liu   +11 more
wiley   +1 more source

Discovery of Selenocysteine as a Potential Nanomedicine Promotes Cartilage Regeneration With Enhanced Immune Response by Text Mining and Biomedical Databases

open access: yesFrontiers in Pharmacology, 2020
BackgroundUnlike bone tissue, little progress has been made regarding cartilage regeneration, and many challenges remain. Furthermore, the key roles of cartilage lesion caused by traumas, focal lesion, or articular overstress remain unclear.
Jing Ye   +11 more
doaj   +1 more source

Feeding behaviour and digestion physiology in larval fish – current knowledge and gaps and bottlenecks in research [PDF]

open access: yes, 2013
Food uptake follows rules defined by feeding behaviour that determines the kind and quantity of food ingested by fish larvae as well as how live prey and food particles are detected, captured and ingested.
Akiyama   +381 more
core   +3 more sources

Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment

open access: yesJIMD Reports, Volume 65, Issue 5, Page 341-353, September 2024.
Abstract Autosomal dominant Fanconi syndrome due to a GATM variant (GATM‐FS), causes accumulation of misfolded arginine‐glycine amidinotransferase (AGAT) in proximal renal tubules leading to cellular injury. GATM‐FS presents during childhood and progresses to end‐stage kidney disease (ESKD) in adults.
Ignacio Portales‐Castillo   +15 more
wiley   +1 more source

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