Results 91 to 100 of about 11,828,008 (230)

CRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling

open access: yesHuman Genetics, 2016
The next-generation sequencing identifies a growing number of candidate genes associated with human genetic diseases, which inevitably requires efficient methods to validate the causal links between genotype and phenotype.
Jiaqi Liu   +7 more
semanticscholar   +1 more source

Gene and Pathway-Based Analysis: Second Wave of Genome-wide Association Studies [PDF]

open access: yes, 2008
Despite great success of GWAS in identification of common genetic variants associated with complex diseases, the current GWAS have focused on single SNP analysis.
Christopher I. Amos   +11 more
core   +1 more source

microRNAs and genetic diseases [PDF]

open access: yes, 2009
microRNAs (miRNAs) are a class of small RNAs (19-25 nucleotides in length) processed from double-stranded hairpin precursors. They negatively regulate gene expression in animals, by binding, with imperfect base pairing, to target sites in messenger RNAs (
Banfi, Sandro   +2 more
core   +2 more sources

Gaucher disease – a comprehensive review of clinical characteristics, diagnostic algorythms and current therapies

open access: yesQuality in Sport
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, which encodes the enzyme glucocerebrosidase.
Alicja Kotula   +8 more
doaj   +1 more source

Genome-wide Causation Studies of Complex Diseases [PDF]

open access: yesarXiv, 2019
Despite significant progress in dissecting the genetic architecture of complex diseases by genome-wide association studies (GWAS), the signals identified by association analysis may not have specific pathological relevance to diseases so that a large fraction of disease causing genetic variants is still hidden. Association is used to measure dependence
arxiv  

Mapping the Genetic-Imaging-Clinical Pathway with Applications to Alzheimer's Disease [PDF]

open access: yesarXiv, 2020
Alzheimer's disease is a progressive form of dementia that results in problems with memory, thinking, and behavior. It often starts with abnormal aggregation and deposition of beta amyloid and tau, followed by neuronal damage such as atrophy of the hippocampi, leading to Alzheimer's Disease (AD).
arxiv  

CRISPR/Cas9 therapeutics: a cure for cancer and other genetic diseases

open access: yesOncoTarget, 2016
Cancer is caused by a series of alterations in genome and epigenome mostly resulting in activation of oncogenes or inactivation of cancer suppressor genes.
F. A. Khan   +8 more
semanticscholar   +1 more source

Mosquito Innate Immunity

open access: yesInsects, 2018
Mosquitoes live under the endless threat of infections from different kinds of pathogens such as bacteria, parasites, and viruses. The mosquito defends itself by employing both physical and physiological barriers that resist the entry of the pathogen and
Ankit Kumar   +6 more
doaj   +1 more source

Histopathology of the gut in rheumatic diseases [PDF]

open access: yes, 2018
The gastrointestinal tract regulates the trafficking of macromolecules between the environment and the host through an epithelial barrier mechanism and is an important part of the immune system controlling the equilibrium between tolerance and immunity ...
Ciccia F.   +4 more
core   +1 more source

Exploring the psychological problems of mothers having the experience of death of children with untreatable genetic disorders: A qualitative study

open access: yesJournal of Education and Health Promotion
BACKGROUND: A newborn with an untreatable genetic disorder could disrupt a family and affect parents’ mental health, psycho-social interaction, and parent–child relationships.
Marzyeh Kermanian   +3 more
doaj   +1 more source

Home - About - Disclaimer - Privacy