Results 81 to 90 of about 10,877,278 (223)

Dynamic disequilibrium-based pathogenicity model in mutated pyrin’s B30.2 domain—Casp1/p20 complex

open access: yesJournal of Genetic Engineering and Biotechnology, 2022
Background The B30.2 variants lead to most relevant severity forms of familial Mediterranean fever (FMF) manifestations. The B30.2 domain plays a key role in protein-protein interaction (PPI) of pyrin with other apoptosis proteins and in regulation the ...
Alaaeldin G. Fayez   +10 more
doaj   +1 more source

The Human Genome [PDF]

open access: yesHeredity, 2003
The Human Genome is a beautifully assembled and well-written publication, enriched with high-quality photographs and diagrams that will appeal to both students and professional scientists and educators. This seven-chapter book begins with an appropriate foreword by Nobel laureate James Watson, the codiscoverer of the structure of DNA.
openaire   +1 more source

Large-scale discovery of enhancers from human heart tissue. [PDF]

open access: yes, 2011
Development and function of the human heart depend on the dynamic control of tissue-specific gene expression by distant-acting transcriptional enhancers.
Afzal, Veena   +16 more
core  

The GENESTAR manual for biospecimen collection biobanking and omics data generation from commercial space missions

open access: yesnpj Microgravity
The surge in commercial and civilian spaceflight enables the systematic and longitudinal, large-scale biospecimen collection to understand the prospective effects of space travel on human health.
Aparna Krishnavajhala   +17 more
doaj   +1 more source

Search-and-replace genome editing without double-strand breaks or donor DNA

open access: yesNature, 2019
Most genetic variants that contribute to disease1 are challenging to correct efficiently and without excess byproducts2–5. Here we describe prime editing, a versatile and precise genome editing method that directly writes new genetic information into a ...
Andrew V. Anzalone   +10 more
semanticscholar   +1 more source

Alzheimer's disease and HIV associated dementia related genes: I. location and function. [PDF]

open access: yes, 2008
Alzheimer's disease (AD), the most common cause of dementia, has few clinical similarities to HIV-1-associated dementia (HAD). However, genes were identified related among these dementias.
Chiappelli, Francesco   +5 more
core   +3 more sources

The accessible chromatin landscape of the human genome

open access: yesNature, 2012
DNase I hypersensitive sites (DHSs) are markers of regulatory DNA and have underpinned the discovery of all classes of cis-regulatory elements including enhancers, promoters, insulators, silencers and locus control regions.
R. Thurman   +58 more
semanticscholar   +1 more source

An integrated 4249 marker FISH/RH map of the canine genome [PDF]

open access: yes, 2004
BACKGROUND: The 156 breeds of dog recognized by the American Kennel Club offer a unique opportunity to map genes important in genetic variation. Each breed features a defining constellation of morphological and behavioral traits, often generated by ...
André, Catherine   +17 more
core   +3 more sources

Changes in H3K27ac following lipopolysaccharide stimulation of nasopharyngeal epithelial cells

open access: yesBMC Genomics, 2018
Background The epithelium is the first line of defense against pathogens. Notably the epithelial cells lining the respiratory track are crucial in sensing airborne microbes and mounting an effective immune response via the expression of target genes such
Lisa Borghini   +2 more
doaj   +1 more source

A human gut bacterial genome and culture collection for improved metagenomic analyses

open access: yesNature Biotechnology, 2019
Understanding gut microbiome functions requires cultivated bacteria for experimental validation and reference bacterial genome sequences to interpret metagenome datasets and guide functional analyses.
S. Forster   +17 more
semanticscholar   +1 more source

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