Categoría: Articulos
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A novel frameshift RPL15 gene variant associated with hydrops fetalis and perinatal death
BackgroundThe heterozygous RPL15 gene (OMIM*604174) variants are associated with autosomal dominant Diamond-Blackfan anemia 12 (DBA12, OMIM#615550). Fewer than ten RPL15 variants have been reported to date, and they are commonly associated with hydrops…
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Earlier stem cell transplants may improve survival in rare inherited bone marrow disorder
More than 90% of children born with the rare bone marrow condition Shwachman-Diamond syndrome (SDS) survive beyond age 20. But fewer than 30% live beyond age 50. Long-term survival could improve if clinicians act on early signs of high risk, according …
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Earlier stem cell transplants may improve survival in rare inherited bone marrow disorder
More than 90% of children born with the rare bone marrow condition Shwachman-Diamond syndrome (SDS) survive beyond age 20. But fewer than 30% live beyond age 50. Long-term survival could improve if clinicians act on early signs of high risk, according …
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How specific changes in DNA shape human brain structure
Why do human brains vary in size and shape, and how did our brains expand over evolutionary time to give us our enhanced cognitive abilities? Researchers at the UNC Department of Genetics and the UNC Neuroscience Center have mapped functional «switches…
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How specific changes in DNA shape human brain structure
Why do human brains vary in size and shape, and how did our brains expand over evolutionary time to give us our enhanced cognitive abilities? Researchers at the UNC Department of Genetics and the UNC Neuroscience Center have mapped functional «switches…
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How the APOE4 gene damages brain blood vessels in Alzheimer’s disease
Mount Sinai researchers have identified how APOE4, the strongest genetic risk factor for Alzheimer’s disease, damages the brain’s blood vessels and promotes the buildup of abnormal proteins linked to neurodegenerative disease. Published in Cell and Cel…
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How the APOE4 gene damages brain blood vessels in Alzheimer’s disease
Mount Sinai researchers have identified how APOE4, the strongest genetic risk factor for Alzheimer’s disease, damages the brain’s blood vessels and promotes the buildup of abnormal proteins linked to neurodegenerative disease. Published in Cell and Cel…
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Genetic clues help reveal kids’ cancer risk
Every person is a collection of genetic puzzle pieces. On their own, those pieces can be hard to understand, but together, they form the picture that is you.
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Genetic clues help reveal kids’ cancer risk
Every person is a collection of genetic puzzle pieces. On their own, those pieces can be hard to understand, but together, they form the picture that is you.
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A novel homozygous DLGAP5 splice-site variant in a woman with oocyte maturation arrest and recurrent IVF failure: a case report
Oocyte maturation arrest (OMA) is a rare cause of female infertility characterized by impaired oocyte maturation and recurrent failure of assisted reproductive technologies. Recent studies have identified DLGAP5 as a critical regulator of meiotic spind…