Results 41 to 50 of about 10,877,278 (223)

miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients

open access: yesThe Egyptian Heart Journal, 2022
Background Childhood dilated cardiomyopathy (CDCM) is the most common cardiomyopathy in children and it is risk factor to heart failure and sudden death.
Alaaeldin G. Fayez   +5 more
doaj   +1 more source

Plasmodium malariae and P. ovale genomes provide insights into malaria parasite evolution [PDF]

open access: yes, 2017
Elucidation of the evolutionary history and interrelatedness of Plasmodium species that infect humans has been hampered by a lack of genetic information for three human-infective species: P. malariae and two P. ovale species (P. o. curtisi and P.
Amenga-Etego, Lucas   +21 more
core   +2 more sources

Changes in Human Genomics [PDF]

open access: yesHuman Genomics, 2011
I would like to welcome you to the second issue of Volume 5 and also to announce several changes to the Journal including new members of our Editorial Board, the introduction of a new section 'Research Highlights' and, crucially, the introduction of open-access papers.
openaire   +3 more sources

Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects

open access: yesSignal Transduction and Targeted Therapy, 2020
Based on engineered or bacterial nucleases, the development of genome editing technologies has opened up the possibility of directly targeting and modifying genomic sequences in almost all eukaryotic cells.
Hongyi Li   +5 more
semanticscholar   +1 more source

The zebrafish reference genome sequence and its relationship to the human genome

open access: yesNature, 2013
Zebrafish have become a popular organism for the study of vertebrate gene function. The virtually transparent embryos of this species, and the ability to accelerate genetic studies by gene knockdown or overexpression, have led to the widespread use of ...
K. Howe   +176 more
semanticscholar   +1 more source

Latent regulatory potential of human-specific repetitive elements [PDF]

open access: yes, 2013
At least half of the human genome is derived from repetitive elements, which are often lineage specific and silenced by a variety of genetic and epigenetic mechanisms. Using a transchromosomic mouse strain that transmits an almost complete single copy of
Barbosa-Morais, Nuno L.   +15 more
core   +1 more source

Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation

open access: yesMolecular Cytogenetics, 2018
Background Microdeletion of 1q43q44 causes a syndrome characterized by intellectual disability (ID), speech delay, seizures, microcephaly (MIC), corpus callosum abnormalities (CCA) and characteristic facial features.
A. M. Mohamed   +9 more
doaj   +1 more source

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

open access: yesMolecular Genetics & Genomic Medicine, 2020
Background Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services ...
Aniko Sabo   +7 more
doaj   +1 more source

The Human Genome Project [PDF]

open access: yesJournal of the Royal Society of Medicine, 2005
On 14 April 2003 the US Human Genome Research Institute announced that scientists had just clipped into place the very last piece in the colossal jigsaw of human DNA. The next day's newspapers reminded us that, whilst it was early days yet, a host of diseases from eczema to dementia could one day be history.
openaire   +3 more sources

The Wolbachia Genome of Brugia malayi: Endosymbiont Evolution within a Human Pathogenic Nematode [PDF]

open access: yes, 2005
Complete genome DNA sequence and analysis is presented for Wolbachia, the obligate alpha-proteobacterial endosymbiont required for fertility and survival of the human filarial parasitic nematode Brugia malayi. Although, quantitatively, the genome is even
  +204 more
core   +3 more sources

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