Results 21 to 30 of about 84,108 (228)

Identification of candidate genes for dyslexia susceptibility on chromosome 18 [PDF]

open access: yes, 2010
Background: Six independent studies have identified linkage to chromosome 18 for developmental dyslexia or general reading ability. Until now, no candidate genes have been identified to explain this linkage.
Olson, R K   +65 more
core   +2 more sources

Patterns of selective constraints in noncoding DNA of rice [PDF]

open access: yes, 2007
Background Several studies have investigated the relationships between selective constraints in introns and their length, GC content and location within genes. To date, however, no such investigation has been done in plants.
Peter D Keightley   +11 more
core   +1 more source

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver   +25 more
wiley   +1 more source

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline [PDF]

open access: yes, 2011
A variety of mutational mechanisms shape the dynamic architecture of human genomes and occasionally result in congenital defects and disease. Here, we used genome-wide long mate-pair sequencing to systematically screen for inherited and de novo ...
Cuppen, E.   +13 more
core   +1 more source

Admixture Mapping Reveals Candidate Regions for Methotrexate Neurotoxicity Susceptibility: A Reducing Disparities in Acute Leukemia Consortium Report

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Neurotoxicity is a rare, often dose‐limiting adverse effect of methotrexate (MTX) therapy that disproportionally affects Latino children. Factors contributing to the observed disparity are not well understood. This study leveraged admixture mapping to identify genetic regions associated with MTX‐related neurotoxicity susceptibility ...
Rachel D. Harris   +24 more
wiley   +1 more source

A genome-wide search replicates evidence of a quantitative trait locus for circulating angiotensisn l-converting enzyme (ACE) unlinked to the ACE gene [PDF]

open access: yes, 2008
Background: angiotensin I-converting enzyme (ACE) plays an important role in cardiovascular homeostasis. There is evidence from different ethnic groups that circulating ACE levels are influenced by a quantitative trait locus (QTL) at the ACE gene on ...
Amy Luke   +20 more
core   +1 more source

Diversity and complexity in neural organoids

open access: yesFEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

How to halve ploidy : lessons from budding yeast meiosis [PDF]

open access: yes, 2012
Maintenance of ploidy in sexually reproducing organisms requires a specialized form of cell division called meiosis that generates genetically diverse haploid gametes from diploid germ cells.
Kerr, Gary W.   +3 more
core   +1 more source

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

open access: yesFEBS Letters, EarlyView.
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee   +7 more
wiley   +1 more source

Orphan CpG islands identify numerous conserved promoters in the mammalian genome [PDF]

open access: yes, 2010
This work was funded by grants from the Wellcome Trust (077224; http://www.wellcome.ac.uk/) and the Medical Research Council (G0800026; http:// www.mrc.ac.uk/index.htm).CpG islands (CGIs) are vertebrate genomic landmarks that encompass the promoters of ...
Gruenewald-Schneider, Ulrike   +45 more
core   +1 more source

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