NMR characterization of the interaction of the endonuclease domain of MutL with divalent metal ions and ATP. [PDF]
PLoS ONE, 2014 MutL is a multi-domain protein comprising an N-terminal ATPase domain (NTD) and C-terminal dimerization domain (CTD), connected with flexible linker regions, that plays a key role in DNA mismatch repair.
Ryota Mizushima +11 more
doaj +1 more source
Significance of pulmonary arterial pressure as a prognostic indicator in lung-dominant connective tissue disease. [PDF]
PLoS ONE, 2014 BACKGROUND: Lung-dominant connective tissue disease (LD-CTD) is a new concept for classifying the subset of patients with interstitial pneumonia who have clinical features suggesting an associated CTD, but whose features fall short of a clear diagnosis ...
Atsushi Suzuki +10 more
doaj +1 more source
Comparative Toxicogenomics Database (CTD): update 2023
Nucleic Acids Res., 2022 The Comparative Toxicogenomics Database (CTD; http://ctdbase.org/) harmonizes cross-species heterogeneous data for chemical exposures and their biological repercussions by manually curating and interrelating chemical, gene, phenotype, anatomy, disease ...
A. P. Davis +5 more
semanticscholar +1 more source
Rheumatology and Therapy, 2023 Introduction Patients with connective tissue disorders (CTD) and pulmonary arterial hypertension (PAH) have a poorer prognosis than those with other PAH etiologies.
Yuen Tsang +3 more
doaj +1 more source
Frontiers in Neurology, 2022 BackgroundThe coexistence of neuromyelitis optica spectrum disorder (NMOSD) and connective tissue disease (CTD) is well recognized. The purpose of this study was to investigate and compare the characteristics of first attack NMOSD with and without CTD ...
Yaobing Yao +9 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2023 Background: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay.
Samar Rahhal +14 more
doaj +1 more source
RRS Discovery Cruise 381, 28 Aug - 03 Oct 2012. Ocean Surface Mixing, Ocean Submesoscale Interaction Study (OSMOSIS) [PDF]
, 2013 Cruise D381 was made in support of NERC's Ocean Surface Boundary Layer theme action programme, OSMOSIS (Ocean Surface Mixing, Ocean Sub-mesoscale Interaction Study).
Allen, J.T. +2 more
core +1 more source
NOC turbulence glider deployment report for the Liverpool Bay Coastal Observatory, June 2011 deployment [PDF]
, 2011 A summary of the NOC Liverpool turbulence glider deployment that occurred between Tuesday 28th June and Monday 4th July 2011 is provided in this document. The general objective of the deployment was to hold the glider on station at a nominal GPS location
Balfour, C., Knight, P., McLaughlin, D.
core
DNA dependent protein kinase (DNA-PK) enhances HIV transcription by promoting RNA polymerase II activity and recruitment of transcription machinery at HIV LTR. [PDF]
, 2020 Despite reductions in mortality from the use of highly active antiretroviral therapy (HAART), the presence of latent or transcriptionally silent proviruses prevents HIV cure/eradication.
Bukrinsky, Michael +10 more
core +2 more sources
Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report
Pediatric Blood &Cancer, EarlyView.ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan +6 more
wiley +1 more source