Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...
A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...
New research published in Nature Communications has linked a normal cellular process to an accumulation of DNA mutations in ...
Synonymous mutations have long been ignored in cancer studies since they don’t affect the amino acid sequences of proteins. But research increasingly reveals that they can have disease-driving effects ...
Despite progress in defining functional elements of noncoding DNA, it is still not fully understood. Researchers, using an experiment that elucidated the function of tens of thousands of noncoding ...
A new study reveals 42 hereditary genes which predispose individuals to a higher number of mutations that correlate with a greater probability of developing cancer. A study of 11,000 cancer patients ...
For years scientists have tried to find a gene for conditions like schizophrenia, Alzheimer’s and autism. But the real source could lie in a much more complex genetic puzzle. When Mike McConnell ...
In autosomal-dominant AD, mutation type influenced amyloid-PET pegged to estimated years before symptom onset. Some mutations came with more striatal amyloid; some with cortical. CSF Aβ42 did not vary ...
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