Results 81 to 90 of about 16,521,028 (347)

Marfan syndrome: insights from animal models

open access: yesFrontiers in Genetics
Marfan syndrome (MFS) is an inherited disorder that affects the connective tissues and mainly presents in the bones, eyes, and cardiovascular system, etc. Aortic pathology is the leading cause of death in patients with Marfan syndrome.
Yuanyuan Jiang   +3 more
doaj   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

open access: yesFEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin   +2 more
wiley   +1 more source

MCScanX: a toolkit for detection and evolutionary analysis of gene synteny and collinearity

open access: yesNucleic Acids Research, 2012
MCScan is an algorithm able to scan multiple genomes or subgenomes in order to identify putative homologous chromosomal regions, and align these regions using genes as anchors.
Yupeng Wang   +11 more
semanticscholar   +1 more source

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

open access: yesFEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi   +5 more
wiley   +1 more source

Role of Segregation for Variant Discovery in Multiplex Families Ascertained by Probands With Left Sided Cardiovascular Malformations

open access: yesFrontiers in Genetics, 2019
Cardiovascular malformations (CVM) are common birth defects (incidence of 2–5/100 live births). Although a genetic basis is established, in most cases the cause remains unknown.
Lisa J. Martin   +3 more
doaj   +1 more source

Construction of Escherichia coli K-12 in-frame, single-gene knockout mutants: the Keio collection

open access: yesMolecular Systems Biology, 2006
We have systematically made a set of precisely defined, single‐gene deletions of all nonessential genes in Escherichia coli K‐12. Open‐reading frame coding regions were replaced with a kanamycin cassette flanked by FLP recognition target sites by using a
T. Baba   +9 more
semanticscholar   +1 more source

Plasmodium falciparum gametogenesis essential protein 1 (GEP1) is a transmission‐blocking target

open access: yesFEBS Letters, EarlyView.
This study shows Plasmodium falciparum GEP1 is vital for activating sexual stages of malarial parasites even independently of a mosquito factor. Knockout parasites completely fail gamete formation even when a phosphodiesterase inhibitor is added. Two single‐nucleotide polymorphisms (V241L and S263P) are found in 12%–20% of field samples.
Frederik Huppertz   +5 more
wiley   +1 more source

Effects of candidate genes on milk fat synthesis in ruminants: A meta-analysis

open access: yesJournal of Dairy Science
: Milk fat content is a polygenic commercially important quantitative trait in ruminants. In recent decades, an increasing number of genes involved in milk fat synthesis have been identified through GWAS and validated using functional assays, such as ...
Lily Liu   +6 more
doaj   +1 more source

Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions

open access: yesBrazilian Journal of Medical and Biological Research, 1998
Genomic DNA from 23 patients with isolated growth hormone (GH) deficiency (12 males and 11 females: heights -4.9 ± 1.4 SDS) was screened for GH gene deletions by restriction endonuclease analysis of polymerase chain reaction amplification products. Three
I.J.P. Arnhold   +8 more
doaj   +1 more source

ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks

open access: yesBioinform., 2009
Summary: We have developed ClueGO, an easy to use Cytoscape plug-in that strongly improves biological interpretation of large lists of genes. ClueGO integrates Gene Ontology (GO) terms as well as KEGG/BioCarta pathways and creates a functionally ...
G. Bindea   +9 more
semanticscholar   +1 more source

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