Σάββατο, 23 Μαρτίου 2019

Genetics

Spatiotemporal expression pattern of Sjfz7 and its expression comparison with other frizzled family genes in developmental stages of <em>Schistosoma japonicum</em>
Publication date: Available online 6 March 2019Source: Gene Expression PatternsAuthor(s): Zhongxue Ye, Jingxiu Xu, Xingang Feng, Yingying Jia, Zhiqiang Fu, Yang Hong, Hao Li, Ke Lu, Jiaojiao Lin, Mingxin Song, Liqun Wang, Chunxiu YuanAbstractWnts are secreted signaling molecules that are implicated in a variety of growth-related processes. Frizzled proteins have been identified as receptors for Wnt ligands in vertebrates and invertebrates, but a functional role for dioecious flatworm Frizzleds has...
Gene Expression Patterns
Thu Mar 07, 2019 13:30
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals
Abstract Incidence rates of Mendelian diseases vary among ethnic groups, and frequencies of variant types of causative genes also vary among human populations. In this study, we examined to what extent we can predict population frequencies of recessive disorders from genomic data, and explored better strategies for variant interpretation and classification. We used a whole-genome reference panel from 3552 general Japanese individuals constructed by the Tohoku Medical Megabank Organization...
Latest Results for Human Genetics
Mon Mar 18, 2019 02:00
Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants
Abstract Amelogenesis imperfecta (AI) refers to a genetically and clinically heterogeneous group of inherited disorders affecting the structure, composition, and quantity of tooth enamel. Both non-syndromic and syndromic forms of AI have been described and several genes affecting various aspects of the enamel physiology have been reported. Genetically modified murine models of various genes have provided insights into the complex regulation of proper amelogenesis. Non-syndromic...
Latest Results for Human Genetics
Fri Mar 15, 2019 02:00
The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus
Abstract Metabolic coherence (MC) is a network-based approach to dimensionality reduction that can be used, for example, to interpret the joint expression of genes linked to human metabolism. Computationally, the derivation of 'transcriptomic' MC involves mapping of an individual gene expression profile onto a gene-centric network derived beforehand from a metabolic network (currently Recon2), followed by the determination of the connectivity of a particular, profile-specific subnetwork....
Latest Results for Human Genetics
Sat Mar 09, 2019 02:00
A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds
Abstract Startle disease, or hyperekplexia, is a glycinergic disorder characterized by hypertonia and apnea that is triggered by noise and/or touch. Mutations in five genes have been associated with startle disease in humans, dogs, cattle, and mice. We identified a novel recessive startle disease in a family of Spanish greyhounds. Whole genome resequencing of an affected dog revealed a homozygous two base pair deletion in the ninth exon of SLC6A5, encoding the presynaptic glycine...
Latest Results for Human Genetics
Thu Mar 07, 2019 02:00
How to increase our belief in discovered statistical interactions via large-scale association studies?
Abstract The understanding that differences in biological epistasis may impact disease risk, diagnosis, or disease management stands in wide contrast to the unavailability of widely accepted large-scale epistasis analysis protocols. Several choices in the analysis workflow will impact false-positive and false-negative rates. One of these choices relates to the exploitation of particular modelling or testing strategies. The strengths and limitations of these need to be well understood,...
Latest Results for Human Genetics
Wed Mar 06, 2019 02:00

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