Results 51 to 60 of about 646,180 (295)

Thermostable neutral metalloprotease from Geobacillus sp. EA1 does not share thermolysin's preference for substrates with leucine at the P1′ position

open access: yesFEBS Letters, EarlyView.
Knowing how proteases recognise preferred substrates facilitates matching proteases to applications. The S1′ pocket of protease EA1 directs cleavage to the N‐terminal side of hydrophobic residues, particularly leucine. The S1′ pocket of thermolysin differs from EA's at only one position (leucine in place of phenylalanine), which decreases cleavage ...
Grant R. Broomfield   +3 more
wiley   +1 more source

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

open access: yesActa Obstetricia et Gynecologica Scandinavica, 2023
Introduction Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical ...
Qinxin Zhang   +12 more
doaj   +1 more source

Exploring lipid diversity and minimalism to define membrane requirements for synthetic cells

open access: yesFEBS Letters, EarlyView.
Designing the lipid membrane of synthetic cells is a complex task, in which its various roles (among them solute transport, membrane protein support, and self‐replication) should all be integrated. In this review, we report the latest top‐down and bottom‐up advances and discuss compatibility and complexity issues of current engineering approaches ...
Sergiy Gan   +2 more
wiley   +1 more source

C‐mannosylation promotes ADAMTS1 activation and secretion in human testicular germ cell tumor NEC8 cells

open access: yesFEBS Letters, EarlyView.
C‐mannosylation is a unique form of protein glycosylation. In this study, we demonstrated that ADAMTS1 is C‐mannosylated at Trp562 and Trp565 in human testicular germ cell tumor NEC8 cells. We found that C‐mannosylation of ADAMTS1 is essential for its secretion, processing, enzymatic activity, and ability to promote vasculogenic mimicry. These findings
Takato Kobayashi   +5 more
wiley   +1 more source

The population genetics of structural variation [PDF]

open access: yesNature Genetics, 2007
Population genetics is central to our understanding of human variation, and by linking medical and evolutionary themes, it enables us to understand the origins and impacts of our genomic differences. Despite current limitations in our knowledge of the locations, sizes and mutational origins of structural variants, our characterization of their ...
Donald F. Conrad, Matthew E. Hurles
openaire   +3 more sources

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

open access: yesFEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile   +8 more
wiley   +1 more source

Copy Number Variation Mapping and Genomic Variation of Autochthonous and Commercial Turkey Populations

open access: yesFrontiers in Genetics, 2019
This study aims at investigating genomic diversity of several turkey populations using Copy Number Variants (CNVs). A total of 115 individuals from six Italian breeds (Colle Euganei, Bronzato Comune Italiano, Parma e Piacenza, Brianzolo, Nero d’Italia ...
Maria G. Strillacci   +8 more
doaj   +1 more source

PB-Motif—A Method for Identifying Gene/Pseudogene Rearrangements With Long Reads: An Application to CYP21A2 Genotyping

open access: yesFrontiers in Genetics, 2021
Long read sequencing technologies have the potential to accurately detect and phase variation in genomic regions that are difficult to fully characterize with conventional short read methods. These difficult to sequence regions include several clinically
Zachary Stephens   +5 more
doaj   +1 more source

Microbial exopolysaccharide production by polyextremophiles in the adaptation to multiple extremes

open access: yesFEBS Letters, EarlyView.
Polyextremophiles are microorganisms that endure multiple extreme conditions by various adaptation strategies that also include the production of exopolysaccharides (EPSs). This review provides an integrated perspective on EPS biosynthesis, function, and regulation in these organisms, emphasizing their critical role in survival and highlighting their ...
Tracey M Gloster, Ebru Toksoy Öner
wiley   +1 more source

Anatomical-Foliar Diversity of Agave salmiana subsp. salmiana (Asparagaceae) in Three Populations of the Teotihuacán Region (Mexico)

open access: yesPlants
Agave salmiana Otto ex Salm-Dyck is an endemic Mexican plant distributed from 1230 to 2460 m above sea level, native to the arid zones of central and southern Mexico.
Estela Sandoval-Zapotitla   +4 more
doaj   +1 more source

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