Results 81 to 90 of about 10,288,978 (312)

Multiple ETS family transcription factors bind mutant p53 via distinct interaction regions

open access: yesFEBS Letters, EarlyView.
Mutant p53 gain‐of‐function is thought to be mediated by interaction with other transcription factors. We identify multiple ETS transcription factors that can bind mutant p53 and found that this interaction can be promoted by a PXXPP motif. ETS proteins that strongly bound mutant p53 were upregulated in ovarian cancer compared to ETS proteins that ...
Stephanie A. Metcalf   +6 more
wiley   +1 more source

A comparative study of endoderm differentiation in humans and chimpanzees

open access: yesGenome Biology, 2018
Background There is substantial interest in the evolutionary forces that shaped the regulatory framework in early human development. Progress in this area has been slow because it is difficult to obtain relevant biological samples.
Lauren E. Blake   +7 more
doaj   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

open access: yesFEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report

open access: yesInternational Medical Case Reports Journal
Francesco Libotte,* Katia Margiotti,* Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino Human Genetics Lab, Altamedica Main Centre, Rome, 00198, Italy*These authors contributed equally to this workCorrespondence: Katia Margiotti,
Libotte F   +4 more
doaj  

Proteomic profiling of the plasma of Gambian children with cerebral malaria

open access: yesMalaria Journal, 2018
Background Cerebral malaria (CM) is a severe neurological complication of Plasmodium falciparum infection. A number of pathological findings have been correlated with pediatric CM including sequestration, platelet accumulation, petechial haemorrhage and ...
Ehab M. Moussa   +10 more
doaj   +1 more source

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

open access: yesNature Genetics, 2021
J. Szustakowski   +111 more
semanticscholar   +1 more source

Human Genetics of Cardiomyopathies

open access: yes, 2016
The identification of a disease-causing variant in a patient diagnosed with cardiomyopathy allows for presymptomatic testing in at risk relatives. Carriers of a pathogenic variant can subsequently be screened at intervals by a cardiologist to assess the risk for potentially life-threatening arrhythmias which can be life-saving.
Vermeer, Alexa M. C.   +2 more
openaire   +2 more sources

Conserved structural motifs in PAS, LOV, and CRY proteins regulate circadian rhythms and are therapeutic targets

open access: yesFEBS Letters, EarlyView.
Cryptochrome and PAS/LOV proteins play intricate roles in circadian clocks where they act as both sensors and mediators of protein–protein interactions. Their ubiquitous presence in signaling networks has positioned them as targets for small‐molecule therapeutics. This review provides a structural introduction to these protein families.
Eric D. Brinckman   +2 more
wiley   +1 more source

Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations

open access: yesOrphanet Journal of Rare Diseases, 2019
Background Glanzmann thrombasthenia (GT) is a rare autosomal recessive abnormality of platelet aggregation with quantitative and/or qualitative abnormality of αIIbβ3 integrin.
F. Zafarghandi Motlagh   +9 more
doaj   +1 more source

In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS

open access: yesFEBS Letters, EarlyView.
We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka   +11 more
wiley   +1 more source

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