Categoría: Articulos
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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.
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The COL4A3 c.3418+1G>T variant causes exon 39 skipping in minigene assays: functional and exploratory structural analyses
BackgroundCanonical splice-site variants are an important cause of Alport syndrome, but the transcript consequences of many heterozygous COL4A3 variants remain experimentally unverified. We characterized COL4A3 c.3418 + 1G>T in a 38-year-old woman with…
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Whole-exome sequencing reveals genetic etiology and pregnancy outcomes in fetuses with ultrasound-detected abnormalities at a tertiary center
Despite advances in prenatal diagnostics, the genetic causes underlying fetal ultrasound abnormalities remain poorly understood, with a significant proportion of cases lacking definitive molecular diagnoses. Invasive prenatal testing was performed in 1…
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Novel study explores how different types of genetic risk impact the manifestation of alcohol use disorder
Multiple types of genetic influence affect the severity and presentation of alcohol use disorder (AUD), according to what may be the first study examining the joint effects of three types of genetic liability on alcohol outcomes. About half the risk fo…
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Novel study explores how different types of genetic risk impact the manifestation of alcohol use disorder
Multiple types of genetic influence affect the severity and presentation of alcohol use disorder (AUD), according to what may be the first study examining the joint effects of three types of genetic liability on alcohol outcomes. About half the risk fo…
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Study offers new clues about how genetic risk for Alzheimer’s affects brain immune cells
Researchers at the University of Colorado Anschutz and Pacific Northwest National Laboratory have found a new clue that may help explain why some people are more likely to develop Alzheimer’s disease. It suggests that a protein linked to the disease ca…
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Study offers new clues about how genetic risk for Alzheimer’s affects brain immune cells
Researchers at the University of Colorado Anschutz and Pacific Northwest National Laboratory have found a new clue that may help explain why some people are more likely to develop Alzheimer’s disease. It suggests that a protein linked to the disease ca…
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Hyperhomocysteinemia in late-onset MADD: high prevalence and exacerbation of lipid deposition
Background Methods Results Conclusion …
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Loss of the human BRIP1 C terminus does not cause Fanconi anemia
Eleven individuals homozygous for C-terminally truncating BRIP1 variants do not exhibit symptoms of Fanconi anemia. Droste et al. characterize the cellular phenotype, demonstrating that a functional N-terminal helicase domain provides resistance to DNA…