Results 121 to 130 of about 13,340,828 (402)
Quality in SportDespite the decreasing number of cases, cataract is still the leading cause of visual impairment and blindness worldwide. The search for the causes of this disease, its risk factors and the relationship with systemic diseases is the subject of many ...
Mateusz Kozik +9 more
doaj +1 more source
Simulations of a mortality plateau in the sexual Penna model for biological ageing [PDF]
, 2005 The Penna model is a strategy to simulate the genetic dynamics of age-structured populations, in which the individuals genomes are represented by bit-strings.
A. O. Sousa +7 more
core +1 more source
Human hepatic organoids for the analysis of human genetic diseases.
JCI Insight, 2017 We developed an in vitro model system where induced pluripotent stem cells (iPSCs) differentiate into 3-dimensional human hepatic organoids (HOs) through stages that resemble human liver during its embryonic development.
Y. Guan +11 more
semanticscholar +1 more source
FEBS Letters, EarlyView.In the adult T‐cell leukemia/lymphoma (ATL) cell line ED, the human T‐cell leukemia virus type 1 (HTLV‐1) provirus was integrated into the intron of the ift81 gene in the antisense orientation. Despite this integration, both the intact ift81 and the viral oncogene hbz were simultaneously expressed, likely due to the functional insufficiency of viral ...
Mayuko Yagi +5 more
wiley +1 more source
Journal of Education and Health PromotionBACKGROUND: 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
Cyclic nucleotide signaling as a drug target in retinitis pigmentosa
FEBS Letters, EarlyView.Disruptions in cGMP and cAMP signaling can contribute to retinal dysfunction and photoreceptor loss in retinitis pigmentosa. This perspective examines the mechanisms and evaluates emerging evidence on targeting these pathways as a potential therapeutic strategy to slow or prevent retinal degeneration.
Katri Vainionpää +2 more
wiley +1 more source
CRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling
Human 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
The genetics of neurodevelopmental disease [PDF]
Current Opinion in Neurobiology, 2011 The term neurodevelopmental disorder encompasses a wide range of diseases, including recognizably distinct syndromes known to be caused by very rare mutations in specific genes or chromosomal loci, and also much more common disorders such as schizophrenia, autism spectrum disorders, and idiopathic epilepsy and mental retardation.
openaire +5 more sources
FEBS Letters, EarlyView.Exposure to common noxious agents (1), including allergens, pollutants, and micro‐nanoplastics, can cause epithelial barrier damage (2) in our body's protective linings. This may trigger an immune response to our microbiome (3). The epithelial barrier theory explains how this process can lead to chronic noncommunicable diseases (4) affecting organs ...
Can Zeyneloglu +17 more
wiley +1 more source
Variation of Structure and Cellular Functions of Type IA Topoisomerases across the Tree of Life
CellsTopoisomerases regulate the topological state of cellular genomes to prevent impediments to vital cellular processes, including replication and transcription from suboptimal supercoiling of double-stranded DNA, and to untangle topological barriers ...
Kemin Tan, Yuk-Ching Tse-Dinh
doaj +1 more source