Browsing Genetics by Title
Now showing items 1-20 of 146
-
A Characterization of Cephalad Transcriptome Changes in the Spaceflight Environment and Mapping the Epitranscriptomic Landscape of Pluripotent Stem Cells
Throughout the process of cellular differentiation, cell trajectories are shaped by different epigenomic and epitranscriptomic regulatory mechanisms. These trajectories eventually land cells into their terminal cell state, ... -
A cradle-to-grave analysis of cis-regulatory variation in yeast
Cis-regulatory variation is an important source of phenotypic variation within populations and a major target of adaptive divergence between species. However, the molecular processes that are influenced by cis-regulatory ... -
A molecular atlas of C. elegans development at single-cell and single-lineage resolution
It takes many cell divisions to produce a complex, multicellular organism such as a human being. Every one of the trillions of cells in a human body was produced by the division of a parent cell, which in turn was produced ... -
Algorithms for modeling gene regulation and determining cell type using single-cell molecular profiles
Single-cell genomic technologies are helping us answer key biological questions that have long remained elusive. How do a single cell and a single genome generate such complex multicellular organisms as humans? More ... -
Analysis of BRCA1 genomic structure: novel germline mutations and somatic alterations in breast cancer
(2000)Germline mutations in BRCA1 lead to an increased risk of breast and ovarian cancer, with loss of the second, normal allele critical to tumorigenesis. The relative lack of somatic mutations in BRCA1 , however, has argued ... -
Analysis of daf-11, a transmembrane guanylyl cyclase that mediates chemosensory transduction in C. elegans
(1998)C. elegans daf-11 mutants have defects in chemosensory responses to a pheromone and to non-volatile and some volatile attractants. daf-11 encodes a transmembrane guanylyl cyclase (TM-GC) and provides the first example of ... -
Analysis of resistance to inhibitors of Plasmodium falciparum dihydrofolate reductase in yeast
(1996)Resistance to the malaria drugs is an increasing problem for treating the 200-300 million people infected yearly with falciparum malaria. Detailed analysis of the development of drug resistance has been complicated by ... -
Androgen Receptor Regulation of Germ Cell Migration across Sertoli Cell Tight Junctions
(2012-09-13)The blood-testis barrier includes a tight junction barrier between Sertoli cells that restricts solutes of varying size and charge from crossing the paracellular space thus enabling the formation of unique microenvironments ... -
Assembly of segmental duplications and their variation in humans
Despite their importance in disease and evolution, highly identical segmental duplications (SDs) have been among the last regions of the human reference genome to be finished. In this work I develop new methods, apply new ... -
Atheroprotective targets associated with high-density lipoprotein: phospholipid transfer protein, paraoxonase-1, and their effects on cerebrovascular disease
The recent high-profile failures of clinical trials and Mendelian randomization studies to demonstrate a causal role of high-density lipoprotein cholesterol (HDL-C) in cardiovascular disease have shifted focus to other ... -
Automating the Interpretation of Pharmacogenetic Data
Genetic polymorphism contributes significantly to the wide inter-individual variability in drug response, affecting both efficacy and toxicity. It has been estimated that more than 90% of the United States population has ... -
Biological and Clinical Consequences of a de novo Mutation in Glutaminase
The causes of bipolar disorder have been a mystery for as long as people have been writing about mental illness. Bipolar disorder is clearly familial but is not inherited in a simple way. Genetic studies have implicated ... -
Building multiplexed genomic tools for editing and interpreting human variation
Advances in DNA sequencing over the past twenty years have led to an unprecedented expansion in our ability to read DNA sequences and find genetic variation in individuals. However, our ability to manipulate and interpret ... -
Causes and consequences of genetic variation in budding yeast
The complex evolutionary forces that shape genomes result in sequences that are part utility and part history. The randomness involved in this process makes it difficult to imagine ever being able to read a genome and ... -
Certain observations concerning the effects of epistasis on complex traits and the evolution of genomes.
The informational content of genomes is usually interpreted as a sum of one-to-one relationships between nucleotides at certain genomic positions and phenotypic outcomes. While such interpretations have the virtue of ... -
Chromatin Deregulation in Cancer
During cancer development, committed cells are reprogrammed to malignant cell states. Genetic and epigenetic changes to chromatin complexes contribute to the reprogramming by disrupting normal cell identity and activating ... -
Comprehensively mapping the effects of mutations to influenza virus
Influenza virus is a rapidly evolving threat to public health. Influenza evolves through point mutations, so knowing the effects of all amino-acid mutations on the ability of the virus to withstand various selective pressures ... -
Conflict and Coevolution Shape the Primate Kinetochore
(2013-04-17)Centromeres and the kinetochore proteins that bind them are required for chromosome segregation during every eukaryotic cell division. Despite this conserved function, ongoing conflict between selfish centromeric DNA and ... -
CRISPR-based functional genomics to study gene regulatory architecture and consequences of genetic variation
If we divide the human genome into its noncoding and coding parts, the noncoding portion takes up ~98-99% of the genome, and the coding portion takes up ~1-2% (ENCODE Project Consortium, 2012). The coding portion of the ... -
De novo missense mutations in neurodevelopmental disorders
Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder (NDD) with a high prevalence in the US (1 in 59 children). It is commonly comorbid with other NDDs such as developmental delay (DD), intellectual ...