Results 101 to 110 of about 563,469 (347)

Functional annotation of variants from healthy individuals [PDF]

Genomics & Informatics, 2019
The implications of germline de novo variants (DNVs) in diseases are well documented. Despite extensive research, inconsistencies between studies remain a challenge, and the distribution and genetic characteristics of DNVs need to be precisely evaluated.
Jean Lee, Sung Eun Hong
doaj   +1 more source

Wide-coverage deep statistical parsing using automatic dependency structure annotation [PDF]

, 2008
A number of researchers (Lin 1995; Carroll, Briscoe, and Sanfilippo 1998; Carroll et al. 2002; Clark and Hockenmaier 2002; King et al. 2003; Preiss 2003; Kaplan et al. 2004;Miyao and Tsujii 2004) have convincingly argued for the use of dependency (rather
Abney Stephen, Andy Way, Aoife Cahill, Briscoe Edward, Chinchor Nancy, Johnson Mark, Josef van Genabith, Michael Burke, Ruth O'Donovan, Stefan Riezler, Xue Nianwen   +10 more
core   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Human gene correlation analysis (HGCA): A tool for the identification of transcriptionally co-expressed genes

BMC Research Notes, 2012
Background Bioinformatics and high-throughput technologies such as microarray studies allow the measure of the expression levels of large numbers of genes simultaneously, thus helping us to understand the molecular mechanisms of various biological ...
Michalopoulos Ioannis, Pavlopoulos Georgios A, Malatras Apostolos, Karelas Alexandros, Kostadima Myrto-Areti, Schneider Reinhard, Kossida Sophia   +6 more
doaj   +1 more source

Yeast Features: Identifying Significant Features Shared Among Yeast Proteins for Functional Genomics [PDF]

, 2008
Background High throughput yeast functional genomics experiments are revealing associations among tens to hundreds of genes using numerous experimental conditions.
Ashkan Golshani, Frank Dehne, James J. Cheetham, James R. Green, Md Alamgir, Michel Dumontier, Myron L. Smith, Nadereh Mir-Rashed, Veronika Eroukova   +8 more
core   +1 more source

Identification of Hub Genes and Functional Annotation of Glaucoma Using Bioinformatic Analysis [PDF]

, 2023
P. Russell Aaron, Navanithan Sivanananthan, Jaspreet Kaur, Jeyvisna Arumainathan, S. Venkataramanan   +4 more
openalex   +1 more source

Cell wall target fragment discovery using a low‐cost, minimal fragment library

FEBS Letters, EarlyView.
LoCoFrag100 is a fragment library made up of 100 different compounds. Similarity between the fragments is minimized and 10 different fragments are mixed into a single cocktail, which is soaked to protein crystals. These crystals are analysed by X‐ray crystallography, revealing the binding modes of the bound fragment ligands.
Kaizhou Yan, Mathew Stanley, Olawale Raimi, Andrew T. Ferenbach, Helge C Dorfmueller, Daan M. F. van Aalten   +5 more
wiley   +1 more source

Using Functional Annotations to Study Pairwise Interactions in Urinary Tract Infection Communities [PDF]

, 2021
Elena Garcia Lara, Isabelle van der Windt, Douwe Molenaar, Marjon G. J. de Vos, Chrats Melkonian   +4 more
openalex   +1 more source

Structural biology of ferritin nanocages

FEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

SIFTER-T: A scalable and optimized framework for the SIFTER phylogenomic method of probabilistic protein domain annotation

BioTechniques, 2015
Statistical Inference of Function Through Evolutionary Relationships (SIFTER) is a powerful computational platform for probabilistic protein domain annotation. Nevertheless, SIFTER is not widely used, likely due to usability and scalability issues.
Danillo C. Almeida-e-Silva, Ricardo Z.N. Vêncio   +1 more
doaj   +1 more source