Categoría: Articulos
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Had genetic testing for cancer risk years ago? Newer tests may find what old ones missed
Women who had genetic testing for inherited cancer risk years ago may want to ask about testing again, experts say.
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Had genetic testing for cancer risk years ago? Newer tests may find what old ones missed
Women who had genetic testing for inherited cancer risk years ago may want to ask about testing again, experts say.
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Prime editing repairs immune disorder defect in patient’s own blood stem cells
Some people are born with a defect in their genetic material that prevents their immune system from functioning properly. In people with a condition known as GATA2 deficiency, the body does not produce enough immune cells, leaving them at increased ris…
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Prime editing repairs immune disorder defect in patient’s own blood stem cells
Some people are born with a defect in their genetic material that prevents their immune system from functioning properly. In people with a condition known as GATA2 deficiency, the body does not produce enough immune cells, leaving them at increased ris…
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Diffuse bronchiolitis and atelectasis as early features of primary ciliary dyskinesia in children: a genotype–phenotype study
Background Methods Results Conclusions …
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Helping others linked to slower cognitive decline among people at higher genetic risk for Alzheimer’s
Regularly volunteering or informally helping people outside one’s home may buffer against accelerated decline in memory and thinking for people with a major genetic risk factor for Alzheimer’s disease, according to new research led by The University of…
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Helping others linked to slower cognitive decline among people at higher genetic risk for Alzheimer’s
Regularly volunteering or informally helping people outside one’s home may buffer against accelerated decline in memory and thinking for people with a major genetic risk factor for Alzheimer’s disease, according to new research led by The University of…
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De novo MAP2K4 variants cause a neurodevelopmental syndrome and impaired JNK signaling in iPSC-derived neurons
Nomakuchi et al. identify MAP2K4 variants as a cause of a syndromic neurodevelopmental disorder characterized by developmental delay, epilepsy, and congenital anomalies. Using CRISPR-edited iPSC-derived neurons, they demonstrate impaired JNK signaling …
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Neurocognitive and neuroradiological findings and their association in a Spanish Pediatric cohort with glutaric aciduria type 1
Background Methods Results Conclusions …
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Continuously evolving cells help pancreatic cancer evade treatment and spread
An analysis of nearly half a million cells from dozens of patients’ tumors reveals how cancer cells continuously reshape their genetic makeup over time, enabling them to evade treatment for one of the deadliest forms of cancer.