Results 51 to 60 of about 13,098 (176)

Literature-based discovery of diabetes- and ROS-related targets [PDF]

, 2010
Background Reactive oxygen species (ROS) are known mediators of cellular damage in multiple diseases including diabetic complications. Despite its importance, no comprehensive database is currently available for the genes associated with ROS.
A Erol, A Fontayne, A Iaccio, Adam D Schuyler, AG Reaume, AM Vincent, AM Vincent, AM Vincent, AM Vincent, American-Diabetes-Association, BJ Turner, C Figueroa-Romero, C Plake, D Rebholz-Schuhmann, David J States, E Schwedhelm, EH Sarsour, EL Feldman, EM Olofsson, Eva L Feldman, F Folli, FA Hakim, FR DeRubertis, H Ilieva, H V Jagadish, HB Lee, I Vastrik, J Hur, JL Edwards, JM Jimenez-Andrade, JS Pan, Junguk Hur, JW Russell, KA Sullivan, Kelli A Sullivan, KK Ohlemiller, L Hirschman, M Ashburner, M Brownlee, M Fukuda, M Fukuda, M Kanehisa, M Kawase, Manjusha Pande, N Kameyama, PJ Shaw, RA Fisher, S Cetinkalp, S Ghosh, T Matsunami, VI Perez, Y Aliciguzel, Y Benjamini, Yu Hong, Z Bagi   +54 more
core   +5 more sources

A standardized nomenclature for mammalian histone genes

Epigenetics & Chromatin, 2022
Histones have a long history of research in a wide range of species, leaving a legacy of complex nomenclature in the literature. Community-led discussions at the EMBO Workshop on Histone Variants in 2011 resulted in agreement amongst experts on a revised
Ruth L. Seal, Paul Denny, Elspeth A. Bruford, Anna K. Gribkova, David Landsman, William F. Marzluff, Monica McAndrews, Anna R. Panchenko, Alexey K. Shaytan, Paul B. Talbert   +9 more
doaj   +1 more source

Analysis of proteins in computational models of synaptic plasticity [PDF]

, 2018
The desire to explain how synaptic plasticity arises from interactions between ions, proteins and other signalling molecules has propelled the development of biophysical models of molecular pathways in hippocampal, striatal and cerebellar synapses.
Armstrong, J Douglas, Heil, Katharina F, Hellgren Kotaleski, Jeanette, Simpson, T Ian, Sorokina, Oksana, Sterratt, David C, Wysocka, Emilia   +6 more
core   +1 more source

Assessing the readiness of precision medicine interoperabilty: An exploratory study of the National Institutes of Health genetic testing registry

Journal of Innovation in Health Informatics, 2017
Background:  Precision medicine involves three major innovations currently taking place in healthcare:  electronic health records, genomics, and big data.
Jay G Ronquillo, Chunhua Weng, William T Lester   +2 more
doaj   +1 more source

HGNC nomenclature for fusion genes [PDF]

Leukemia, 2021
Robert Peter Gale, Andreas Hochhaus, Nicholas C. P. Cross, Christine J. Harrison   +3 more
openaire   +2 more sources

CLinNET: An Interpretable and Uncertainty‐Aware Deep Learning Framework for Multi‐Modal Clinical Genomics

Advanced Science, EarlyView.
Identifying disease‐causing genes in neurocognitive disorders remains challenging due to variants of uncertain significance. CLinNET employs dual‐branch neural networks integrating Reactome pathways and Gene Ontology terms to provide pathway‐level interpretability of genomic alterations.
Ivan Bakhshayeshi, Mohammad Mahdi Hosseini, Ahmadreza Argha, Roxana Zahedi, Nigel H. Lovell, Hamid Alinejad‐Rokny   +5 more
wiley   +1 more source

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1

Stem Cell Research, 2017
Fibroblasts from a female patient carrying a heterozygous variation in GTP cyclohydrolase 1 (GCH1; OMIM: 600225; HGNC: 4193; c.235_240del/p.(L79_S80del)), the rate-limiting enzyme of tetrahydrobiopterin (BH4) synthesis, were reprogrammed to iPSCs using ...
Sabine Jung-Klawitter, Juliane Ebersold, Gudrun Göhring, Nenad Blau, Thomas Opladen   +4 more
doaj   +1 more source

Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with specific PCR and deep sequencing

Frontiers in Genetics, 2022
Background: Androgen insensitivity syndrome (AIS) is an X-linked recessive hereditary disease caused due to a reduced or absent function of the androgen receptor (AR) protein encoded by the AR gene (OMIM-Gene# 313,700).
Xiaojing He, Qingya Ma, Qiaoli Zhang, Qiaoli Zhang, Xutao Hong, Xutao Hong, Ming Qi, Ming Qi, Yongkai Li, Xiaodong Li   +9 more
doaj   +1 more source

The PITA System: Tabling and Answer Subsumption for Reasoning under Uncertainty [PDF]

, 2011
Many real world domains require the representation of a measure of uncertainty. The most common such representation is probability, and the combination of probability with logic programs has given rise to the field of Probabilistic Logic Programming (PLP)
Bauters, Dantsin, Dubois, Dubois, FABRIZIO RIGUZZI, Meert, Osorio, Riguzzi, Riguzzi, Santos Costa, Sato, TERRANCE SWIFT   +11 more
core   +1 more source

A Subset of Pro‐inflammatory CXCL10+ LILRB2+ Macrophages Derives From Recipient Monocytes and Drives Renal Allograft Rejection

Advanced Science, EarlyView.
This study uncovers a recipient‐derived monocyte‐to‐macrophage trajectory that drives inflammation during kidney transplant rejection. Using over 150 000 single‐cell profiles and more than 850 biopsies, the authors identify CXCL10+ macrophages as key predictors of graft loss.
Alexis Varin, Jovanne Palvair, Lennie Messager, Jamal Bamoulid, Jasper Callemeyn, Mélanie Chaintreuil, Ludivine Dal Zuffo, Didier Ducloux, Imane Farhat, Mathieu Legendre, Laurent Martin, Florian Renosi, Xavier Roussel, Thibaut Vaulet, Maarten Naesens, Claire Tinel, Baptiste Lamarthée   +16 more
wiley   +1 more source