Sentences with phrase «of cellular defects»

It's theorized that portions of the brain swell and decompress almost instantly during this stage, causing a host of cellular defects throughout the brain.

Not exact matches

An example comes from a patient with familial hypercholesterolemia — a disease that causes high blood levels of «bad» LDL (low - density lipoprotein) cholesterol because a cellular defect prevents the liver from absorbing LDL.

A forward genetic screen in Drosophila melanogaster (fruit flies) identified mutant copies, or alleles, of a gene called cacophony associated with defects in autophagy and cellular homeostasis.

Led by Dr. Peter Glazer, chair of therapeutic radiology, Dr. Mark Saltzman, chair of biomedical engineering, and Dr. Marie Egan, professor of pediatrics and of cellular and molecular physiology, the collaborative team used synthetic molecules similar to DNA — called peptide nucleic acids, or PNAs — as well as donor DNA, to edit the genetic defect.

Functional measurements of the cells showed that a drug called avanafil reversed some of the cellular imbalances caused by the mitochondrial defect.

This is the case of mitochondrial disease, a rare condition caused by defects in the «cellular powerhouse.»

Disruption of this structure caused DNA synthesis to proceed beyond the normal template boundary, resulting in altered telomere sequences, telomere shortening, and cellular growth defects.

Using real - time cellular imaging to monitor the changes in aged flies» neuron activity before and after learning, Davis and his colleague Ayako Tonoki found structural connectivity defects between a set of neurons known as dorsal paired medial neurons and mushroom body neurons; these defects prevented long - term memories from forming.

In order to dissect these defects, we utilize a unique approach including deep assessment of patient phenotype, clinical genetic testing to identify underlying genetic contributions to these features, and the application of combinatorial functional omics (transcriptome, metabolome, etc.) to uncover the pathological cellular states that result from these genetic changes.

The Human Biochemical Genetics Section studies selected biochemical defects and other genetic disorders to provide insight into cellular mechanisms and to care for neglected groups of rare disease patients.

They include reduced lymphocyte repertoire, increasing clonality and increasing autoreactivity.5, 7,8 Recent work has focused on intrinsic cell defects, which alter T cell activation threshold, induction of cellular senescence and differentiation into short - lived effector or long - lived memory cells.

The common characteristic of all types of SCID is absence of T - cell - mediated cellular immunity due to a defect in T - cell development.

Given their utmost necessity for proper cellular function, it is not surprising that defects in lipid metabolism underlie a number of human diseases, including obesity, diabetes, and atherosclerosis.

Drugs that can repair this defect, making the harmful apoE4 indistinguishable from the good apoE3, could prevent the cascade of cellular mayhem before it even begins.

(9) Indeed, the degenerative aging process is by definition one in which the organism progressively accumulates damage to its cellular and molecular components over time, so any genetic or environmental factor that leads to a greater burden of such damage will bear some resemblance to the aging phenotype, irrespective of the causal origin of the defect or its relationship to «normal» aging.

Though further characterization of the developmental and cellular defects in mouse Boule mutant testes is needed to determine the full extent of similarity in developmental and cellular defects between mouse and Drosophila Boule mutants [61], our data demonstrate a key physiological requirement of Boule in sperm development and conservation of its male reproduction function between two distant lineages of a protostome (Drosophila) and a deuterostome (mouse).

Gene Yeo, PhD, assistant professor of cellular and molecular medicine, will apply innovative technologies to detect abnormal patterns of RNA in neurons and discover molecules that reverse these defects.

Howard Hughes Medical Institute researchers have pinpointed defects in a critical cellular pathway that can lead to the death of dopamine - producing nerve cells and ultimately symptoms of Parkinson's...

These mutations are also relevant to melanoma and to numerous associated birth defects of organs including the ear, eye, brain, reproductive, digestive and respiratory tracts, hemophilia, and cellular defects in protein transport, organelle biogenesis and apoptosis.

Led by Dr. Peter Glazer, chair of therapeutic radiology, Mark Saltzman, chair of biomedical engineering, and Dr. Marie Egan, professor of pediatrics and of cellular and molecular physiology, the collaborative team used synthetic molecules similar to DNA — called peptide nucleic acids, or PNAs — as well as donor DNA, to edit the genetic defect.

But defects of the DNA repair system in brain cells could contribute to the accumulation of potentially disruptive and toxic metabolites of cellular insult, and lead to neurological dysfunction.»

Studies show that nicotinamide mononucleotide supplementation can slow cellular aging and improve many of the metabolic defects common to the aging process, including obesity, diabetes, cardiovascular disease, and neurodegenerative conditions.

Either scenario may occur for genetic reasons due to inherited defects of pancreatic islet cells, cellular insulin receptors, or both.

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