Results 61 to 70 of about 2,545,958 (345)

Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19

open access: yesFrontiers in Genetics, 2022
Introduction: Diamond Blackfan anemia (DBA) is an autosomal dominant ribosomopathy caused predominantly by pathogenic germline variants in ribosomal protein genes.
Sarah Cole   +4 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

What Is a Dingo? The Phenotypic Classification of Dingoes by Aboriginal and Torres Strait Islander Residents in Northern Australia

open access: yesAnimals, 2020
Dingo classification and management is complicated by hybridisation with domestic dogs. Northern Australia is a relatively high-risk zone for a rabies incursion, and in the event of an incursion, Aboriginal and Torres Strait Islander peoples who reside ...
Victoria J. Brookes   +3 more
doaj   +1 more source

The multidrug and toxin extrusion (MATE) transporter DTX51 antagonizes non‐cell‐autonomous HLS1–AMP1 signaling in a region‐specific manner

open access: yesFEBS Letters, EarlyView.
The Arabidopsis mutants hls1 hlh1 and amp1 lamp1 exhibit pleiotropic developmental phenotypes. Although the functions of the causative genes remain unclear, they act in the same genetic pathway and are thought to generate non‐cell‐autonomous signals.
Takashi Nobusawa, Makoto Kusaba
wiley   +1 more source

The Integrated Phenotype [PDF]

open access: yesIntegrative and Comparative Biology, 2012
Proper functioning of complex phenotypes requires that multiple traits work together. Examination of relationships among traits within and between complex characters and how they interact to function as a whole organism is critical to advancing our understanding of evolutionary developmental plasticity.
openaire   +3 more sources

Measuring phenotype-phenotype similarity through the interactome [PDF]

open access: yes2017 IEEE International Conference on Bioinformatics and Biomedicine (BIBM), 2017
Recently, measuring phenotype similarity began to play an important role in disease diagnosis. Researchers have begun to pay attention to develop phenotype similarity measurement. However, existing methods ignore the interactions between phenotype-associated proteins, which may lead to inaccurate phenotype similarity.We proposed a network-based method ...
Weiwei Hui, Xuequn Shang, Jiajie Peng
openaire   +6 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

Phenotypic Constraints and Phenotypic Hitchhiking in a Promiscuous Enzyme [PDF]

open access: yesThe Open Evolution Journal, 2012
Covarying phenotypic traits can limit natural selection's ability to modify these traits. Most evolutionary stud- ies on trait covariation use the comparative method to study complex traits of multicellular organisms. Simpler traits have the advantage of being amenable to experimental evolution.
Wagner Andreas, Weikert Christian
openaire   +2 more sources

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

C9orf72 ALS‐causing mutations lead to mislocalization and aggregation of nucleoporin Nup107 into stress granules

open access: yesFEBS Letters, EarlyView.
Mutations in the C9orf72 gene represent the most common genetic cause of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Using patient‐derived neurons and C. elegans models, we find that the nucleoporin Nup107 is dysregulated in C9orf72‐associated ALS. Conversely, reducing Nup107 levels mitigates disease‐related changes.
Saygın Bilican   +7 more
wiley   +1 more source

Home - About - Disclaimer - Privacy