Categoría: Genetica
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Hallazgo relevante de casi un millón de nuevos exones en el genoma humano
El hallazgo aporta información biológicamente significativa que puede abrir nuevos caminos para explorar el denominado ´genoma oscuro´ que es la parte más extensa y desconocida, todavía, del genoma humano. Actualmente, hay contabilizados alrededor de 20.000 genes codificadores de proteínas en los seres humanos que contienen aproximadamente 180.000 exones internos conocidos, que tan sólo representan el uno…
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Un estudio identifica los genes clave que determinan la forma del cráneo humano
Estos hallazgos ayudan a explicar la diversidad de formas de la cabeza humana y también pueden ofrecer pistas importantes sobre la base genética de enfermedades que afectan al cráneo AGENCIAS 28 DICIEMBRE 2023 | 10:30 H Investigadores de la Universidad de Pittsburgh y KU Leuven identifican genes clave que determinan la forma del cráneo humano, aportando…
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Researchers uncover unexpected molecular pattern in fragile X syndrome
DECEMBER 27, 2023 by Perelman School of Medicine at the University of Pennsylvania Researchers have found new disrupted genes and an unexpected molecular pattern—dubbed BREACHes—related to fragile X syndrome (FXS), a genetic disorder estimated by the Centers for Disease Control and Prevention to impact about 1 in 7,000 males about 1 in 11,000 females. The study, by researchers…
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A study of genetics of pericarditis increases understanding of newly approved drug treatment
Sequence variants that protect against pericarditis have been discovered at a genomic locus encoding interleukin-1 immune cytokines. A newly approved drug treatment for pericarditis inhibits these cytokines, according to a new study. The article, titled «Variants at the interleukin-1 gene locus and pericarditis,» was published today (Dec. 27) in JAMA Cardiology by scientists at deCODE genetics, a…
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Histone acetylation, transcription factor dynamics contribute to gene expression in brain development
No man is an island, and no neuron is either: complex, intricate connections between and among brain cells are needed for the brain to do its job correctly. Now, researchers from Japan have uncovered a fundamental mechanism that lets neurons know when and how to form these connections. In the study «Repetitive CREB-DNA interactions at…
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Unraveling the mystery of hereditary diffuse gastric cancer
Gastric cancer, a significant global health burden, claims more than 7% of cancer-related deaths annually. Although only 1%–3% of cases have a genetic basis, understanding these genetic drivers is crucial for developing preventative strategies. Gastric cancer, a formidable foe in the global health arena, casts a long shadow over millions of lives each year. While…
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Revealing how an ancient genetic invader inhabits our DNA
Billions of years ago, as primitive lifeforms were becoming more complex, a selfish genetic component became a sort of genome colonizer. Using a copy-and-paste mechanism, this pernicious bit of code replicated and inserted itself again and again into a variety of genomes. Over time, all eukaryotic organisms inherited the code—including us. In fact, this ancient…
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El 18% de los hombres con cáncer de mama tienen mutaciones en el gen BRCA
El riesgo promedio de los hombres de ser diagnosticados con cáncer de mama en algún momento de su vida es de aproximadamente uno de cada 1000. Según los datos extraídos del Registro Nacional de Cáncer de Mama en el Varón, cerca del 18 por ciento de estos pacientes varones presentan mutaciones en los genes de riesgo…
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Unlocking the human genome: Innovative machine learning tool predicts functional consequences of genetic variants
Model accelerates genetic research toward more tailored treatments Date:December 14, 2023Source:The Mount Sinai Hospital / Mount Sinai School of MedicineSummary:In a novel study, researchers introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain- and loss-of-function variants across the genome. Unlike current methods that predominantly focus on loss of function, LoGoFunc distinguishes among different types…