Results 81 to 90 of about 1,500 (175)

Transient neonatal cystinuria [PDF]

, 2005
Transient neonatal cystinuria.BackgroundCystinuria is an inherited disorder of luminal reabsorptive transport for cystine and dibasic amino acids in the renal proximal tubule. Two cystinuria genes have been identified.
Paul Goodyer, Rima Rozen, Vicanek, Caroline, Marylise Boutros, Rozen, Rima, Boutros, Marylise, Caroline Vicanek, Goodyer, Paul   +7 more
core   +1 more source

Molecular characterization of cystinuria in south-eastern European countries [PDF]

, 2013
Cystinuria is an autosomal recessive disorder caused by defective transport of cystine and dibasic amino acids in the proximal renal tubules and small intestine. So far, more than 128 mutations in SLC3A1 gene, and 93 in SLC7A9 gene have been described as
Pavicevic, Snezana, TOPALOĞLU, REZAN, Golubovic, Emilija, Baskin, Esra, Stefanovska, Emilija Sukarova, Bogdanovic, Radovan, Lilova, Marusia, Tasic, Velibor, AKİL, İPEK, SOYLU, ALPER, Popovska-Jankovic, Katerina, Gregoric, Alojz, Saraga, Marjan, Plaseska-Karanfilska, Dijana, Miljkovic, Predrag   +14 more
core   +3 more sources

Advances in the diagnosis and treatment of cystinuria [PDF]

Linchuang erke zazhi
Cystinuria is an autosomal recessive disorder caused by mutations in the SLC3A1 or SLC7A9 genes, leading to functional defects in the renal tubular b0,+ amino acid transporter, and is clinically characterized by early-onset and highly recurrent ...
JIA Shichen, XU Guofeng
doaj   +1 more source

A Review on the Role of Human Solute Carriers Transporters in Cancer

Health Science Reports, Volume 8, Issue 1, January 2025.
ABSTRACT Background and Aim The high rate of tumor growth results in an increased need for amino acids. As solute carriers (SLC) transporters are capable of transporting different amino acids, cancer may develop as a result of these transporters' over‐expression due to their complex formation with other biological molecules.
Md. Shafiul Hossen, Mohammed Shafin Ul Islam, Mohammad Yasin, Mohammed Ibrahim, Abhijit Das   +4 more
wiley   +1 more source

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

Cancer 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, Boning Zeng, Jilong Zhou, Nan Li, Mingwei Li, Chaowei Zhu, Shouxia Xie, Yifei Wang, Shaoxiang Wang, Xiao Wang   +9 more
wiley   +1 more source

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

Animal, 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, J. Jiao, C. Zhou, S. Tang, M. Wang, J. Kang, X. Han, Z. Tan   +7 more
doaj   +1 more source

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

Prenatal 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, Shuang Huang, Victor Wei Zhang, Liyuan Cao, Haipeng Liu, Xiang Wei, Yuan Luo, Yue Li, Lin Zhou, Fuping Li, Qian Zhu, Hongqian 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

Frontiers 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, Bingbing Xu, Baoshi Fan, Jiying Zhang, Fuzhen Yuan, Yourong Chen, Zewen Sun, Xin Yan, Yifan Song, Shitang Song, Meng Yang, Jia-Kuo Yu   +11 more
doaj   +1 more source

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

JIMD 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, Rhea Singal, Anastasia Ambrose, Jong Hee Song, Minsoo Son, Young Ah. Goo, Wen Zhou, Avram Z. Traum, Ariella Coler‐Reilly, Benjamin D. Humphreys, Roberto Civitelli, Harald Jüppner, Andrew L. Lundquist, Peter Seres, Andrew S. Allegretti, Saadet Mercimek‐Andrews   +15 more
wiley   +1 more source

Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients [PDF]

, 2005
Cystinuria represents 3% of nephrolithiasis in humans with an overall prevalence of 1 in 7,000 neonates. Two genes have been reported to account for the genetic basis of cystinuria, the SLC3A1 and the SLC7A9.
Georgiou, I., Sofikitis, N., Chatzikyriakidou, A.   +2 more
core