American Journal of Medical Genetics Part C: Seminars in Medical GeneticsSuomalainen A, Kaukonen J (2001) Diseases caused by nuclear genes affecting mtDNA stability. Am J Med Genet 106:53–61Suomalainen, A. and Kaukonen, J. (2001) Diseases caused by nuclear genes affecting mtDNA stability. Am...
SFTS is an emerging tick-borne disease with high mortality rates caused by the SFTS virus. Here, the authors identify LRP1 as an entry factor for SFTSV, show that SFTSV glycoprotein Gn interacts with LRP1 and that blocking LRP1 reduces viral infection and improves survival in lethal mouse mod...
To answer this question, scientists based at the New York Genome Center (NYGC) and Columbia University have delved into large genomic datasets to find an explanation for variable penetrance, that is, variability in the signs and symptoms of diseases caused va...
This study reports patients with MIRAGE syndrome, caused by germline heterozygous gof mutations in SAMD9, in whom somatic monosomy 7, interstitial 7q deletion or lof mutation in SAMD9 in blood cells represents recurrent SGR that eliminates the deleterious effect of the germline mutation and leads...
The scary part of is not just the presence of the pathogen; it's the disease that's caused by that pathogen and/or our body's reaction to it. This lesson will go over some of the many diseases bloodborne pathogens may cause, and what they can do to our bodies. Lesson...
Thus, compared to immunocompetent tissue, privileged tissues such as the eye are more prone to develop inflammatory diseases caused by GM alterations. A possible mechanisms is bacterial translocation from the gut to the eye. However, although many studies have shown that the GM contributes to the...
Chronic diseases are caused by complex gene-environment interactions acting across the lifespan from the fetus to old age (Figure 1). In this context, 'environment' includes risk and protective factors associated with environment and lifestyle, such as tobacco, nutrition, indoor and outdoor air ...
Types A and B of Niemann-Pick disease are also known as acid sphingomyelinase deficiency, with Type A distinguished from Type B by the presence of neurodegenerative changes. Both types are caused by mutations in the SMPD1 gene. The estimated incidence of Types A and B of Niemann-Pick dise...
Infectious diseases also known as contagious diseases, transmissible diseases or communicable diseases are caused by pathogenic microorganisms that infect a host organism and can be spread, directly or indirectly, from one organism to another. ...
This disorder is caused by dominant mutations in the IRF6 (interferon regulatory factor 6) gene (Kondo et al., 2002). Scientists have proposed that IRF6 variation may also contribute to isolated cleft lip with or without cleft palate (Zucchero et al., 2004), a complex birth defect ...