Inherited disease may be caused by mutation or loss of a single gene or by chromosomal rearrangement carried by a parent which leads to the production of genetically unbalanced gametes. A newly emerging category
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...
A cellular process in which substances are brought into the cell. Haplotype A group of alleles in an organism that are inherited together from a single parent. Neurovisceral attacks Symptoms consisting of autonomic neuropathies such as severe abdominal pain, constipation and vomiting. Nephrocalcinosis ...
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
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 term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. Clinically,
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 ...
61 This harmful role of complement in the pathogenesis of inflammation-mediated tissue injury seems to contradict the observation that inherited and acquired complement deficiencies are associated with a higher prevalence of SLE in humans. In fact, the homozygous deficiencies of early components of the...
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 ...
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 ...