Scientists at Cold Spring Harbor Laboratory (CSHL) have discovered that one of the most common genetic alterations in autism -- deletion of a 27-gene cluster on chromosome 16 -- causes autism-like features. By generating ...
Oct 3, 2011
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Genetic alterations that give rise to a rare, fatal disorder known as MOGS-CDG paradoxically also protect cells against infection by viruses. Now, scientists at the Lewis Katz School of Medicine at Temple University have ...
May 19, 2023
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A single cell contains 2-3 meters of DNA, meaning that the only way to store it is to package it into tight coils. The solution is chromatin: a complex of DNA wrapped around proteins called histones. In the 3D space, this ...
Mar 15, 2023
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A collaborative team of scientists led by Mayo Clinic's Center for Individualized Medicine has discovered 15 additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome. Symptoms of the disorder ...
Jun 21, 2022
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Mount Sinai researchers have developed a new model that uses DNA and RNA sequencing data from hundreds of patients to identify specific genes and genetic alterations responsible for never-before-defined subtypes of a blood ...
Nov 17, 2021
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At the earliest stages of human embryonic development, a small collection of cells known as human embryonic stem cells (hESCs) orchestrates growth and differentiation, eventually giving rise to highly specialized human tissues. ...
Oct 28, 2021
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No two human beings are the same, a biologic singularity encoded in the unique arrangement of the molecules that make up our individual DNA.
Oct 27, 2021
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Researchers have identified a molecular mechanism that drives the progression of uveal melanoma (UM), an often lethal eye cancer in adults.
Sep 13, 2021
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Idiopathic pulmonary fibrosis (IPF) is the most common and severe form of lung disease characterized by relentless scarring leading to death within an average of four years from the time of diagnosis. The poorly understood ...
Aug 31, 2021
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Exposure to a traumatic experience can lead to post-traumatic stress disorder (PTSD), an incapacitating disorder in susceptible persons with no reliable therapy. Particularly puzzling is understanding how transient exposure ...
Aug 4, 2021
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