Results 41 to 50 of about 2,252 (191)

Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model

Cells
Cystinosis is a rare, autosomal recessive, lysosomal storage disease caused by mutations in the gene CTNS, leading to cystine accumulation in the lysosomes.
Louise Medaer, Dries David, Maxime Smits, Elena Levtchenko, Maurilio Sampaolesi, Rik Gijsbers   +5 more
doaj   +1 more source

CTNS molecular genetics profile in a Persian nephropathic cystinosis population

Nefrología, 2017
Purpose: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia.
Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A. Gahl, Babak Behnam   +7 more
doaj   +3 more sources

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

BMC Nephrology, 2019
Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina   +7 more
doaj   +1 more source

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

The Scientific World Journal, 2015
Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders.
Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu   +10 more
doaj   +1 more source

Physics‐Based Compact Modeling of Advanced 3D Nanoscale Vertical NAND Flash Memory

Advanced Electronic Materials, EarlyView.
For advanced 3D NAND flash memory, a unified compact model for SPICE is proposed that spans from the intrinsic unit cell to the full string and captures the electrostatic coupling with adjacent inhibit strings. It can successfully predict read behavior, program/erase dynamics, and interactions between neighboring cells, reflecting array‐level behavior ...
Ilho Myeong, Seonho Shin, Ickhyun Song
wiley   +1 more source

Compositional Time–Temperature–Transformation and Post‐Processing Window Mapping of Epoxy Nanocomposites via Machine Learning

Journal of Applied Polymer Science, EarlyView.
Discrete DSC and rheological data are transformed into continuous compositional Time–temperature–transformation (TTT) diagrams through physics‐informed Gaussian Process Regression. The proposed framework quantitatively predicts post‐gel processing windows across temperature and nanofiller composition, providing a practical route for accelerated design ...
Otávio Bianchi, Dante A. Benvenutti, Leonardo B. Canto, Alessandra Lavoratti, Zainab Al‐Maqdasi, Sandro Campos Amico, Patrik Fernberg   +6 more
wiley   +1 more source

An unusual titanosaur axis from the Upper Cretaceous of Brazil and its significance for sauropod anatomy and systematics

The Anatomical Record, EarlyView.
Abstract The Upper Cretaceous São José do Rio Preto Formation (Bauru Group, southeastern Brazil) has yielded a fragmentary but taxonomically diverse record of titanosaur sauropods, although elements from cervical series remain scarce. Here, we describe a nearly complete sauropod axis from the Vila Ventura Paleontological Area, representing an uncommon ...
Bruno A. Navarro, Jeffrey A. Wilson Mantilla, Jhonata H. A. Martins, Fabiano V. Iori, Leonardo S. Paschoa, Alberto B. Carvalho, Joseli M. Piranha, Hussam Zaher   +7 more
wiley   +1 more source

Impairment of chaperone‐mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

EMBO Molecular Medicine, 2015
Metabolite accumulation in lysosomal storage disorders (LSDs) results in impaired cell function and multi‐systemic disease. Although substrate reduction and lysosomal overload‐decreasing therapies can ameliorate disease progression, the significance of ...
Gennaro Napolitano, Jennifer L Johnson, Jing He, Celine J Rocca, Jlenia Monfregola, Kersi Pestonjamasp, Stephanie Cherqui, Sergio D Catz   +7 more
doaj   +1 more source

Mechanisms of bacterial membrane permeabilization by crotalicidin (Ctn) and its fragment Ctn(15–34), antimicrobial peptides from rattlesnake venom [PDF]

Journal of Biological Chemistry, 2018
Crotalicidin (Ctn), a cathelicidin-related peptide from the venom of a South American rattlesnake, possesses potent antimicrobial, antitumor, and antifungal properties. Previously, we have shown that its C-terminal fragment, Ctn(15-34), retains the antimicrobial and antitumor activities but is less toxic to healthy cells and has improved serum ...
Peinado, Clara Pérez, Dias, Susana, Domingues, Marco André Manso, Benfield, Aurélie H., Freire, João Miguel, Rádis-Baptista, Gandhi, Gaspar, Diana, Castanho, Miguel A. R. B., Craik, David J., Henriques, Sónia Troeira, Veiga, Ana Salome, Andreu, David   +11 more
openaire   +7 more sources

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis

Diagnostic Pathology, 2022
Abstract Background Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and other organ abnormalities. Patients with ocular cystinosis are mostly asymptomatic and typically experience mild photophobia due to cystine ...
Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, I. Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Néji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi   +13 more
openaire   +3 more sources