Browsing Genetics (Scholarly Publications) by Title
Now showing items 36-55 of 356
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Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosxa 1 (RP1) gene
(Molecular Vision, 2003)PURPOSE: To determine the full-length sequence of a gene with similarity to RP1 and to screen for mutations in this newly characterized gene, named retinitis pigmentosa 1-like 1(RP1L1). Since mutations in the RP1 gene cause ... -
CHD5 is required for neurogenesis and has a dual role in facilitating gene expression and polycomb gene repression
(2013)The chromatin remodeler CHD5 is expressed in neu- ral tissue and is frequently deleted in aggressive neuroblastoma.Verylittleisknownaboutthefunction of CHD5 in the nervous system or its mechanism of action. Here we ... -
CHD5 is required for neurogenesis and has a dual role in facilitating gene expression and polycomb gene repression.
(2013)The chromatin remodeler CHD5 is expressed in neural tissue and is frequently deleted in aggressive neuroblastoma. Very little is known about the function of CHD5 in the nervous system or its mechanism of action. Here we ... -
ChloroMitoSSRDB: open source repository of perfect and imperfect repeats in organelle genomes for evolutionary genomics.
(2013)Microsatellites or simple sequence repeats (SSRs) are repetitive stretches of nucleotides (A, T, G, C) that are distributed either as single base pair stretches or as a combination of two- to six-nucleotides units that are ... -
A chromatin-independent role of Polycomb-like 1 to stabilize p53 and promote cellular quiescence.
(2015)Polycomb-like proteins 1-3 (PCL1-3) are substoichiometric components of the Polycomb-repressive complex 2 (PRC2) that are essential for association of the complex with chromatin. However, it remains unclear why three ... -
Chromosomal G + C content evolution in yeasts: systematic interspecies differences, and GC-poor troughs at centromeres.
(2010)The G + C content at synonymous codon positions (GC3s) in genes varies along chromosomes in most eukaryotes. In Saccharomyces cerevisiae, regions of high GC3s are correlated with recombination hot spots, probably due to ... -
Claudin-5: A Pharmacological Target to Modify the Permeability of the Blood-Brain Barrier
(2021)Claudin-5 is the dominant tight junction protein in brain endothelial cells and exclusively limits the paracellular permeability of molecules larger than 400Da across the blood–brain barrier (BBB). Its pathological impairment ... -
Claudin-5: Gatekeeper of neurological function
(2019)Tight junction proteins of the blood–brain barrier are vital for maintaining integrity of endothelial cells lining brain blood vessels. The presence of these protein complexes in the space between endothelial cells creates ... -
Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing
(2022)Although rare, inherited retinal degenerations (IRDs) are the most common reason for blind registration in the working age population. They are highly genetically heterogeneous (>300 known genetic loci), and confirmation ... -
Clusters of co-expressed genes in mammalian genomes are conserved by natural selection
(Oxford University Press, 2005)Genes that belong to the same functional pathways are often packaged into operons in prokaryotes. However, aside from examples in nematode genomes, this form of transcriptional regulation appears to be absent in eukaryotes. ... -
CODON USAGE AND GENE-EXPRESSION LEVEL IN DICTYOSTELIUM-DISCOIDEUM - HIGHLY EXPRESSED GENES DO PREFER OPTIMAL CODONS
(1989)Codon usage patterns in the slime mould Dictyostelium discoideum have been re-examined (a total of 58 genes have been analysed). Considering the extreme A + T-richness of this genome (G + C = 22%), there is a surprising ... -
Coevolution analyses illuminate the dependencies between amino acid sites in the chaperonin system GroES-L.
(2013)BACKGROUND: GroESL is a heat-shock protein ubiquitous in bacteria and eukaryotic organelles. This evolutionarily conserved protein is involved in the folding of a wide variety of other proteins in the cytosol, being ... -
Comparison of BRCAx tumors with BRCA1-, BRCA2-carriers and non-familial breast cancer.
(2015)Aims Women with inherited pathogenic mutations in the BRCA1 or BRCA2 genes have up to an 85% risk of developing breast cancer in their lifetime. However, only about 20% of familial breast cancer is attributed to mutations ... -
Compensatory evolution of gene regulation in response to stress by Escherichia coli lacking RpoS.
(2009)The RpoS sigma factor protein of Escherichia coli RNA polymerase is the master transcriptional regulator of physiological responses to a variety of stresses. This stress response comes at the expense of scavenging for ... -
Complete DNA sequences of the mitochondrial genomes of the pathogenic yeasts Candida orthopsilosis and Candida metapsilosis: Insight into the evolution of linear DNA genomes from mitochondrial telomere mutants.
(Oxford University Press, 2006)We determined complete mitochondrial DNA sequences of the two yeast species, Candida orthopsilosis and Candida metapsilosis, and compared them with the linear mitochondrial genome of their close relative, C.parapsilosis. ... -
A complete mitochondrial genome sequence from a mesolithic wild aurochs (Bos primigenius)
(2010)ackground: The derivation of domestic cattle from the extinct wild aurochs ( Bos primigenius ) has been well-documented by archaeological and genetic studies. Genetic studies point towards the Neolithic Near East as ... -
The complex relationship of gene duplication and essentiality.
(2009)In yeast and worm, duplicate genes overlap in function so that deleting one of a pair from the genome is less likely to be lethal than deleting a singleton gene. By contrast, previous analyses showed that mouse duplicate ... -
A "Complex" Issue: Deciphering the Role of Variant PRC1 in ESCs.
(2013)Several noncanonical type-1 Polycomb Repressive Complexes (PRC1) that act independently of PRC2 have been recently identified, but their functions in embryonic stem cells (ESCs) are unclear. Two recent reports by Morey et ...