Results 61 to 70 of about 6,666 (226)

Typical course of cystinuria leading to untypical complications in pregnancy: A case report and review of literature

Frontiers in Medicine, 2023
Cystinuria is a rare genetic disorder inherited by an autosomal recessive pattern which affects the transmembrane transporter for the base amino acid cystine. It has a general prevalence of 1 in 7000 with demographic variations.
Ema Ivandic, Marjan Maric, Vesna Elvedi-Gasparovic, Margareta Fistrek Prlic, Lovro Lamot, Lovro Lamot, Bojan Jelakovic, Bojan Jelakovic, Ivana Vukovic Brinar, Ivana Vukovic Brinar   +9 more
doaj   +1 more source

A Cystine Transporter Mediates Nutrient Acquisition and Redox Balance During Wheat Stripe Rust Infection

Molecular Plant Pathology, Volume 26, Issue 11, November 2025.
During wheat infection, Puccinia striiformis f. sp. tritici promotes cysteine export to the apoplast, where it is oxidised to cystine. The fungus then imports cystine via the PstCYN1 transporter to support its growth and quench host‐derived reactive oxygen species, thereby suppressing defence. ABSTRACT Amino acid uptake is crucial for the pathogenicity
Wanlu Duan, Yanfei Zhang, Shuohui Yang, Sifan Chen, Jiawen Yuan, Chaoran Zhang, Zhensheng Kang, Jing Zhao   +7 more
wiley   +1 more source

Bases moleculars de la cistinúria [PDF]

, 2018
Els cDNA identificats actualment de transportadors d'aminoàcids en mamífers poden ser agrupats en quatre famílies. Una d'aquestes famílies la componen les proteïnes rBAT i la cadena pesada (hc) de l'antigen de superfície de membrana anomenat 4F2. Els RNA
Barceló, P., Calonge, María Julia, Chillarón Chaves, José Julio, Estivill, Xavier, 1955-, Estévez Povedano, Raúl, Mora, Conchi, Nadal, M., Nunes Martínez, Virginia, Palacín Prieto, Manuel, Purroy, J., Rousaud, F., Testar, Xavier, Torrents, D., Volpini Bertrán, Víctor, Zorzano Olarte, Antonio   +14 more
core  

Asymmetric Strategies for the Synthesis of Enantiopure α‐/β‐/γ‐Thio‐Carboxylic Acids Bearing a Stereocentre at CS Bond

Advanced Synthesis &Catalysis, Volume 367, Issue 18, September 29, 2025.
Enantioenriched α‐/β‐/γ‐thiocarboxylic acids featuring C–S chirality are valuable targets in organic synthesis. This review outlines recent progress in their asymmetric synthesis, including chiral pool approaches, metal‐ /organo‐catalysis, and emerging biocatalytic strategies. Enantiomerically pure α‐/β‐/γ‐thiocarboxylic acids bearing a stereocentre at
Jingyue Wu, Daniele Castagnolo
wiley   +1 more source

Ureteroscopic lithotripsy for ureteral stones in children using holmium: yag laser energy: results of a multicentric survey [PDF]

, 2019
BACKGROUND: Holmium:YAG (Ho:YAG) laser lithotripsy has broadened the indications for ureteroscopic stone managements in adults, but few evidence are currently available in the pediatric population. OBJECTIVE: This article aimed to assess the outcome
Bagnara, V., Escolino, M., Esposito, C., Golebiewski, A., Masieri, L., Tokar, B.   +5 more
core   +1 more source

Detection of Mutation in Exons 3 and 8 of SLC3A1 and Exons 4 and 10 of SLC7A9 Genes in Patients with Cystinuria in Iran

مجله دانشکده پزشکی اصفهان, 2014
Background: Cystinuria, one of the first diagnosed inborn errors of metabolism, recognized by hyperexcretion of cystine, lysine, ornithine and arginine into the urine.
Leila Koulivand, Mehrdad Mohammadi, Rasoul Salehi, Behrouz Ezatpour, Majid Kheirollahi   +4 more
doaj  

Mass Spectrometry-based in vitro Assay to Identify Drugs that Influence Cystine Solubility

Bio-Protocol, 2017
Cystinuria is a rare genetic disorder characterized by recurrent, painful kidney stones, primarily composed of cystine, the dimer of the amino acid cysteine (Sumorok and Goldfarb, 2013).
Neelanjan Bose, Tiffany Zee, Pankaj Kapahi, Marshall Stoller   +3 more
doaj   +1 more source

From collection to correction: Can serial 24‐hour urine collections demonstrate improved urinary stone parameters?

BJUI Compass, Volume 6, Issue 8, August 2025.
Abstract Objectives To determine whether serial 24‐hour urine collections from the same patient over time result in improved stone risk parameters. Patients and Methods Using a 24‐hour urinalysis database, 1832 tests from 688 patients collected over a 10‐year period were retrospectively reviewed.
Daniel Jhang, Jason Groegler, Akin S. Amasyali, Hyukje Sung, Matthew Buell, Jersey Castillo, Elizabeth A. Baldwin, Mohamed Keheila, Zhamshid Okhunov, D. Duane Baldwin   +9 more
wiley   +1 more source

Gene identification for the cblD defect of vitamin B12 metabolism [PDF]

, 2008
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Baumgartner, M R, Coelho, D, Fowler, B, Lerner-Ellis, J P, Newbold, R F, Rosenblatt, D S, Stucki, M, Suormala, T   +7 more
core   +1 more source

The effect of selenium supplementation on cystine crystal volume in patients with cystinuria

BioMedicine, 2018
Background: Cystinuria as an autosomal recessive sickness is a relatively rare disease. Formation of cystine stones indicates cystinuria. Few studies are considered the cysteine crystal volume in management of cystinuria.
Mohammadi Mehrdad, Shohani Amin, Khorami Hatef, Nouri Mahdavi Kia, IzadPanahi Mohammad hossein, Alizadeh Farshid, Azizi Mohammad   +6 more
doaj   +1 more source