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...
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...
Research Highlights14 May 2025Nature Genetics Volume: 57, P: 1061 Microglia drive amyloid-β clearance in immunized patients with Alzheimer’s disease Microglia have a central role in the clearance of amyloid-β after immunotherapy in Alzheimer’s disease. By integrating spatial transcriptomics and sin...
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...
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 ...
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...
Mitochondrial diseases are caused by defects in mitochondria, the cell's energy plants. Malfunctions in mitochondria lead to multi-systemic defects in the brain, heart, muscles, kidney and endocrine and respiratory systems. The many possible clinical symptoms include loss of motor control, muscle wea...
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...
A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5. Eur. J. Pediatr. 171, 401–404 (2012). Article PubMed Google Scholar Sethi, S. K. et al. A boy with proteinuria and focal global glomerulosclerosis: answers. Pediatr. Nephrol. 30, ...
Glucosylceramide, which accumulates in Gaucher disease caused by homozygous mutations in GBA , compromises lysosomal function and leads to an accumulation of α -synuclein; conversely, α -synuclein inhibits GBA, resulting in an increase in glucosylceramide. CAS PubMed PubMed Central Google Scholar ...