Results 41 to 50 of about 13,983 (221)

Uric acid, an important screening tool to detect inborn errors of metabolism: a case series

BMC Research Notes, 2017
Background Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism.
Eresha Jasinge, Grace Angeline Malarnangai Kularatnam, Hewa Warawitage Dilanthi, Dinesha Maduri Vidanapathirana, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike Jayasena, Nambage Dona Priyani Dhammika Chandrasiri, Neluwa Liyanage Ruwan Indika, Pyara Dilani Ratnayake, Vindya Nandani Gunasekara, Lynette Dianne Fairbanks, Blanka Stiburkova   +10 more
doaj   +1 more source

A New 3D Colon on a Chip to Decipher the Influence of Mechanical Forces on the Physiological Cellular Ecosystem

Advanced Healthcare Materials, EarlyView.
To dissect how mechanical forces influence intestinal physiology, we developed a stretchable 3D colon‐on‐chip that integrates tunable topography, stiffness and peristalsis‐like motion within a physiologically relevant microenvironment. We showed that stretching is a dominant factor governing epithelial behavior, markedly enhancing proliferation and ...
Moencopi Bernheim‐Dennery, Lauriane Gérémie, Julie Brun, Lucas Chassatte, Giacomo Gropplero, Réda Bouras, Jieun Choo, Bertrand Cinquin, Alba Marcellan, Danijela Matic Vignjevic, Stéphanie Descroix   +10 more
wiley   +1 more source

Lesch-Nyhan Syndrome: Evaluation of a Modified Bite Device to Prevent Bite Injuries

Applied Sciences, 2020
Lesch-Nyhan syndrome (LNS) is a serious form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary purine metabolism disorder. The prevalence reported in the literature is 1/380,000 to 235,000 births.
Gaetano Ierardo, Valeria Luzzi, Gian Luca Sfasciotti, Antonella Polimeni, Maurizio Bossù   +4 more
doaj   +1 more source

Integrating metabolomics and network pharmacology to assess the effects of quercetin on lung inflammatory injury induced by human respiratory syncytial virus

Scientific Reports, 2023
Quercetin (QR) has significant anti-respiratory syncytial virus (RSV) effects. However, its therapeutic mechanism has not been thoroughly explored. In this study, a lung inflammatory injury model caused by RSV was established in mice.
Ya-Lei Sun, Pei-Pei Zhao, Cheng-Bi Zhu, Ming-Chen Jiang, Xin-Min Li, Jia-Lei Tao, Chan-Chan Hu, Bin Yuan   +7 more
doaj   +1 more source

Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome

Frontiers in Genetics, 2023
Background: Hypoxanthine-guanine phosphoribosyltransferase (HPRT1) deficiency is an inborn error of purine metabolism responsible for Lesch–Nyhan syndrome (LNS).
Albandary AlBakheet, Hanan AlQudairy, Joud Alkhalifah, Sheikhah Almoaily, Namik Kaya, Zuhair Rahbeeni   +5 more
doaj   +1 more source

The renal phenotype of allopurinol-treated HPRT-deficient mouse.

PLoS ONE, 2017
Excess of uric acid is mainly treated with xanthine oxidase (XO) inhibitors, also called uricostatics because they block the conversion of hypoxanthine and xanthine into urate.
Cristina Zennaro, Federica Tonon, Paola Zarattini, Milan Clai, Alessandro Corbelli, Michele Carraro, Marialaura Marchetti, Luca Ronda, Gianluca Paredi, Maria Pia Rastaldi, Riccardo Percudani   +10 more
doaj   +1 more source

Cathepsin B modulates lysosomal biogenesis and host defense against Francisella novicida infection [PDF]

, 2016
Lysosomal cathepsins regulate an exquisite range of biological functions, and their deregulation is associated with inflammatory, metabolic, and degenerative diseases in humans.
Gurung, Prajwal, Guy, Clifford S, Kanneganti, Thirumala-Devi, Karki, Rajendra, Lamkanfi, Mohamed, Lupfer, Christopher, Malireddi, RK Subbarao, Man, Si Ming, Neale, Geoffrey, Qi, Xiaopeng   +9 more
core   +1 more source

Proteomic profile of CSF obtained at the time of diagnosis determines amyotrophic lateral sclerosis progression and survival: CXCL7 levels in disease prognosis and survival

Brain Pathology, EarlyView.
Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.
Sergio Roca‐Pereira, Yaiza López‐Sampere, Pol Mengod‐Soler, Mario Peña‐Fonteboa, Carla Marco, Alejandro Caravaca‐Puchades, Raúl Domínguez, Juan Francisco Vázquez‐Costa, Enrique Santamaría, Joaquín Fernández‐Irigoyen, María J. Colomina, Isabel León Moreno, Antonio Martínez Yélamos, Sergio Martínez Yélamos, Gabriel Santpere, Elia Obis, Manuel Portero‐Otín, Gerard Piñol‐Ripoll, Mónica Povedano, Pol Andrés‐Benito   +19 more
wiley   +1 more source

Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients

Frontiers in Genetics, 2022
Background: Lesch-Nyhan disease (LND) is a rare disorder involving pathogenic variants in the HPRT1 gene encoding the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) that result in hyperuricemia, intellectual disability, dystonic movement ...
Lu Li, Xiaohui Qiao, Fei Liu, Jingjing Wang, Huijun Shen, Haidong Fu, Jian-Hua Mao   +6 more
doaj   +1 more source

Genetic ablation of purine salvage in Cryptosporidium parvum reveals nucleotide uptake from the host cell [PDF]

, 2019
The apicomplexan parasite Cryptosporidium is a leading global cause of severe diarrheal disease and an important contributor to early-childhood mortality. Waterborne outbreaks occur frequently, even in countries with advanced water treatment capabilities,
Cuny, Gregory D., Gibson, Alexis, Hedstrom, Lizbeth, Herbert, Gillian T., Pawlowic, Mattie, Sateriale, Adam, Somepalli, Mastanbabu, Striepen, Boris   +7 more
core   +2 more sources