De novo cytogenetically balanced reciprocal non-Robertsonian translocations are rare findings in clinical cytogenetics and might be associated with an abnormal phenotype. Knowledge of the parental origin and mechanisms of formation is still limited. By microdissection of the derivative chromosomes and their normal homologs from metaphases followed by microsatellite-mediated marker analysis we i...

Liquid-based cytology (LBC) in conjunction with Whole-Slide Imaging (WSI) enables the objective and sensitive and quantitative evaluation of biomarkers in cytology. However, the complex three-dimensional distribution of cells on LBC slides requires manual focusing, long scanning-times, and multi-layer scanning. Here, we present a solution that overcomes these limitations in two steps: first, we...

CONTEXT We describe the clinical investigation of the first generation aldosterone synthase inhibitor, LCI699, in patients with essential, uncontrolled, resistant, or secondary hypertension. LCI699 competitively reduced blood pressure at lower doses yet counterintuitive effects were observed at higher doses. OBJECTIVE AND METHOD An extensive endocrine biomarker analysis was performed to bette...

PURPOSE The aim of this study was to map the disease locus of autosomal dominant cataracts (ADC) in a Chinese family. METHODS A four-generation family with multiple individuals affected by ADC was investigated. Genomic DNA was collected from 22 family members. A gene-scan at known candidate ADC loci was performed. To achieve fine-mapping we genotyped fourteen STR markers at the critical regio...

A marker-assisted background selection (MABS)-based gene introgression approach in wheat (Triticum aestivum L.) was optimized, where 97% or more of a recurrent parent genome (RPG) can be recovered in just two backcross (BC) generations. A four-step MABS method was developed based on 'Plabsim' computer simulations and wheat genome structure information. During empirical optimization of this meth...

On smallholder farms in the foothills of the Himalayan Mountains in Nepal, fungi of the Fusarium graminearum clade cause Gibberella ear rot of maize and contamination with the 8-ketotrichothecenes nivalenol and deoxynivalenol. Previous DNA marker analyses of the F. graminearum clade from maize in Nepal found a high level of genetic diversity but were limited in detail or scope. The present stud...

Ridge regression with heteroscedastic marker variances provides an alternative to Bayesian genome-wide prediction methods. Our objectives were to suggest new methods to determine marker-specific shrinkage factors for heteroscedastic ridge regression and to investigate their properties with respect to computational efficiency and accuracy of estimated effects. We analyzed published data sets of ...

The grass stage is an inherent and distinctive developmental trait of longleaf pine (Pinus palustris), in which height growth in the first few years after germination is suppressed. In operational forestry practice the grass stage extends for two to several years and often plays a role in planting failures and decisions to plant alternative species. Interspecies hybrids involving loblolly (P. t...

BACKGROUND Data on the association of memory performance with cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) are inconsistent. The Consortium to Establish a Registry for Alzheimer's Disease neuropsychological battery (CERAD-NB) is a commonly used validated cognitive tool; however, only few studies have examined its relationship with CSF biomarkers for AD. We studied the correl...

This study focused on a Yunnan landrace of rice, Kunmingxiaobaigu, to identify quantitative trait loci (QTLs) controlling cold tolerance at the reproductive stage using DNA markers. A linkage map with 16 linkage groups covering 1,354.4 cM with a total of 122 markers was constructed based on an F2 population consisting of 250 individuals of a cross between Kunmingxiaobaigu and a Japanese variety...