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Tg2576 mice harbor the human APP transgene with the Swedish mutation and develop AD-like amyloidosis and memory deficits [15].
Human ESCs can be genetically modified to harbor a desired mutation and develop a phenotype of disease.
APP23 mice express APP with Swedish mutation and develop amyloid plaques late in their life, while cognitive deficits are observed in young age.
It has been identified as an early feature in motor neurons in transgenic mice that express human SOD1 with an ALS-linked mutation and develop an ALS like motor neuron disorder [ 27- 29].
Because there are multiple family members who carry the mutation and develop PD, and in some cases there are several families that may be more remotely related, we can be very confident that five LRRK2 mutations are causal: R1441G/C, Y199C, G2019S and I2020T.
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His mother also had the mutation, and developed Parkinson's, and he has already announced that he plans to have his four-month-old son tested to see whether he has inherited the trait.
This pig strain is characterised by a homozygous low-density lipoprotein (LDL) receptor mutation and develops marked atherosclerosis under atherogenic diet [12, 13].
Therapeutic implications include the ability to establish new humanized disease models for understanding mechanisms, conduct high-throughput screening for novel biogenic compounds to reverse or prevent the disease phenotype, identify and engineer genetic rescue of causal mutations, and develop patient-specific cellular replacement strategies.
As these cells proliferate they accumulate further mutations and develop increased resistance to anticancer agents.
Tg2576 mice express human amyloid precursor protein with the Swedish mutations and develop numerous amyloid plaques in the cortex and hippocampus as they age (Hsiao et al., 1996).
Although antibiotic tolerance in persisters is thought to be phenotypic, it is possible that under some conditions, antibiotic tolerant persisters may acquire mutations and develop genetic resistance.
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