Although approximately one-quarter of the roughly 4,000 genetically inherited diseases currently recorded in respective databases (LocusLink, OMIM) are already linked to a region of the human genome, about 450 have no known associated gene. Finding disease-related genes requires laborious examination ...
genetic disorder - a disease or disorder that is inherited genetically congenital disease, genetic abnormality, genetic defect, genetic disease, hereditary condition, hereditary disease, inherited disease, inherited disorder monogenic disease, monogenic disorder - an inherited disease controlled by a single ...
et al. Diagnostic utility of genome-wide DNA methylation testing in genetically unsolved individuals with suspected hereditary conditions. Am. J. Hum. Genet. 104, 685–700 (2019). Description of the utility for methylation analysis in a number of different rare diseases. Article CAS PubMed Pub...
In addition to improving diagnostics for genetically heterogeneous diseases and enabling a faster rate of gene discovery, NGS has enabled an expansion and redefinition of nephrogenetic disease categories. Findings from these studies raise the question of whether disease diagnoses should be made on ...
What are cytoplasmic genes? How do they affect the heredity of organisms? What is sex-linked inheritance? List five characteristics that develop due to the interplay of genetically inherited factors. What is a biological trait? Give some examples. What is a gene-environment cor...
The prevalence of kidney diseases is emerging as a public health problem. Stem cells (SCs), currently considered as a promising tool for therapeutic application, have aroused considerable interest and expectations. With self-renewal capabilities and grea
Some cases appear to be genetically linked.24 Overall, PPH is more severe and aggressive than secondary pulmonary hypertension. Vascular remodeling, an alteration in pulmonary vascular tone, and a loss of cross-sectional pulmonary arterial area are responsible for the increase in PVR seen in this ...
While traditionally the function of the extracellular matrix and the basement membrane was considered to be providing structural support, it is now clear that this only covers one aspect of its multiple functions. This is also illustrated by our growing knowledge of the role of collagen IV, a ma...
was approved by the FDA in 2017 for the treatment of inherited retinal dystrophy caused by biallelicRPE65gene mutation (LCA2)33. This therapy, that enters a phase I trial (NCT00516477) in 2007, is based on live nonreplicating genetically modified AAV2 capsid that expressesRPE65, delivered by...
Pioneering gene therapy trials have shown that the genetic engineering of haematopoietic stem and progenitor cells can be an alternative to allogeneic transplantation in the treatment of primary immunodeficiencies. Early trials also highlighted the risk of insertional mutagenesis and oncogene transactivation ...