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A SMN missense mutation complements SMN2 restoring snRNPs
A SMN missense mutation complements SMN2 restoring snRNPs

... (30 – 32). Mice lack SMN2 and thus, lethality can be rescued by introduction of SMN2. Low copy number of SMN2 gives rise to SMA and a high copy number of SMN2 rescues mice that lack mouse Smn (33,34). Expression of SMN(D7) in SMA mice containing two copies of SMN2 is not detrimental, but is benefici ...
The monogenic primary dystonias
The monogenic primary dystonias

... anomalies. In contrast, secondary dystonia occurs as one of the several signs and symptoms within another, frequently neurological, oncological or metabolic disorder, after intoxication or after trauma. In these forms, neuropathological findings are common and dystonia is thought to occur ‘secondary ...
Genetic polymorphisms among C57BL/6 mouse inbred strains
Genetic polymorphisms among C57BL/6 mouse inbred strains

... there are several C57BL/6 substrains that are related but not genetically identical and for which behavioral differences have been reported (Bothe et al. 2004; Bryant et al. 2008; Mulligan et al. 2008). Therefore, knowledge and recognition of the exact C57BL/6 strain that is used, or the C57BL/6 str ...
Determining the Transcription Factor Genes Populating a Fruit Fly
Determining the Transcription Factor Genes Populating a Fruit Fly

... The methodological goal of the RNAi screen was to reduce the expression of Drosophila melanogaster transcription factor genes individually along the dorsal midline of the abdomen. The reduction of gene expression occurs through the exploitation of the endogenous fruit fly RNA interference pathway. I ...
Genes Involved in the Uptake and Catabolism of
Genes Involved in the Uptake and Catabolism of

... z to 3 days at 37 "C. These colonies were picked and purified by repeated isolation of single colonies. They were found to be still devoid of PEP-carboxylase activity, and would therefore not grow on any hexose or other substrate which requires this anaplerotic enzyme for catabolism, until theppc+ a ...
Genes Involved in the Uptake and Catabolism of
Genes Involved in the Uptake and Catabolism of

... z to 3 days at 37 "C. These colonies were picked and purified by repeated isolation of single colonies. They were found to be still devoid of PEP-carboxylase activity, and would therefore not grow on any hexose or other substrate which requires this anaplerotic enzyme for catabolism, until theppc+ a ...
ALLEN Developing Mouse Brain Atlas
ALLEN Developing Mouse Brain Atlas

... EXPERT ANNOTATION OF ISH DATA OVERVIEW The Allen Developing Mouse Brain Atlas is an extensive resource on gene expression over the course of brain development from embryonic through postnatal stages, providing both spatial and temporal information about gene expression. In situ hybridization (ISH) d ...
gemini Documentation
gemini Documentation

... As version 0.12.2 of GEMINI it is required that your input VCF file undergo additional preprocessing such that multiallelic variants are decomposed and normalized using the vt toolset from the Abecasis lab. Note that we have also decomposed and normalized all of the VCF-based annotation files (e.g., ...
A Theory of Conceptual Advance: Explaining Conceptual Change in
A Theory of Conceptual Advance: Explaining Conceptual Change in

... One central object of study for philosophy is the human intellect. Philosophy attempts to understand rationality and objectivity as a characteristic of different forms of theoretical and practical reasoning. This is a study in philosophy of science, and thereby concerns a particular manifestation of ...
PDF
PDF

... wild-type heart-stage embryos is expressed throughout the cotyledon primordia (Long and Barton, 1998; Schoof et al., 2000), was detected around the whole apical circumference of gnom embryos (Fig. 1D,H), and was mainly restricted to the epidermis. This aberrant marker expression reflects the failure ...
TaqMan® SNP Genotyping Assays User Guide
TaqMan® SNP Genotyping Assays User Guide

... particular level of observation or actions as described below: Note: Provides information that may be of interest or help but is not critical to the use of the product. ...
How to Model Microevolution How to Model Microevolution
How to Model Microevolution How to Model Microevolution

... D, “linkage disequilibrium” • It measures the degree of association at the population level between the two sites/loci • D is created by many evolutionary forces and historical events, including the very act of mutation because the new mutant variant initially exists on only one chromosomal backgrou ...
Chapter 7 - Research Explorer
Chapter 7 - Research Explorer

... declining water quality are controlled through complex interactions with altered evaporation and rainfall patterns, changing hydrological flows and shifts in chemical and biological processes, all of which interact in non-linear ways (Paerl and Paul, 2012). This creates an enormous challenge in pred ...
The KetelD Dominant-Negative Mutations Identify
The KetelD Dominant-Negative Mutations Identify

... formation: Since the Ketel D mutations have been known to be gain-of-function type (Szabad et al. 1989), the above-described defects are most likely brought about by Ketel D-encoded mutant gene products. To elaborate the above possibility we carried out egg cytoplasm injections: 1. First a sample of ...
Registration Policy - Colourpointed British Shorthair Cat Club
Registration Policy - Colourpointed British Shorthair Cat Club

... Some matings will result in an overstamp of the pedigree such as those involving, Silver, Colourpointed and Ticked cats. Although Silver and Ticked are dominant genes and cannot be carried they are not always obvious in some breeds. Therefore, the over-stamp will be carried forward, to help inform f ...
Assessing the role of anammox in a nitrogen contaminated aquifer
Assessing the role of anammox in a nitrogen contaminated aquifer

... Dissimilatory reduction of nitrate to ammonium (DNRA) process occurs in low oxygen settings similar to denitrification, and both processes can even compete for available nitrate. This process is mediated by prokaryotes carrying the nrfA gene. (See review: Simon 2002). One of the main concerns about ...
a method for detecting and typing of salmonella by multiplex pcr
a method for detecting and typing of salmonella by multiplex pcr

... database GenBank (http://www.ncbi.nlm.nih.gov/genbank/) were analyzed. Multiple alignment of selected sequences, and their subsequent analysis to select PCR primers was performed using the computer program Bio Edit (v.7.2.4). The protocol of polymerase chain reaction has been developed on the basis ...
Consistency analysis of redundant probe sets on Affymetrix three
Consistency analysis of redundant probe sets on Affymetrix three

... significantly different. If two probe sets yield similar fold-changes, the differences will not show a significant group effect. If two probe sets generate different fold-changes, this indicates possible differential regulation of probe set targets. To test for different fold-changes, we first take ...
X-Chromosome inactivation ratios affect wild-type
X-Chromosome inactivation ratios affect wild-type

... bulb (17) or cerebellum (20) demonstrated increased expression in adulthood, however, suggesting that changes in MeCP2 expression may be evident within specific brain regions. Although these previous studies have suggested a role for MeCP2 in the maturational differentiation of CNS neurons based on ...
Nectary formation is ABC independent - Development
Nectary formation is ABC independent - Development

... of cells in a lateral nectary gland at anthesis is approx. 2000 and in a medial gland is approx. 400. The first morphological signs of nectary gland formation appear during stage 9 (stages according to Smyth et al.) (Smyth et al., 1990). At this stage, all other floral organs have begun to acquire t ...
anatomical skin dimples
anatomical skin dimples

... parent inherited the gene from one or both parents. If both of your parents have dimples, you have a 50-100% chance of inheriting the gene, depending on how they inherited their dimple genes.The dominant genes responsible for the inheritance of facial dimples have been suggested to be located onchro ...
The Genetics of Migraine
The Genetics of Migraine

... type—with or without aura—but about a third experience both types of attacks during their life. We do not yet know whether migraine with and without aura are two clinical forms of the same disease, or whether they represent two distinct disorders. There are also other less common types of migraine. ...
The Center for Organogenesis | University of Michigan, Ann Arbor
The Center for Organogenesis | University of Michigan, Ann Arbor

... Stage-dependent modes of Pax6-Sox2 epistasis regulate lens development and eye morphogenesis April N. Smith1, Leigh-Anne Miller1, Glenn Radice2,*, Ruth Ashery-Padan3 and Richard A. Lang1,4,5,† The transcription factors Pax6 and Sox2 have been implicated in early events in lens induction and have bee ...
Comparison of different PCR tests for detecting Shiga toxin
Comparison of different PCR tests for detecting Shiga toxin

... reducing the risk of carry-over contamination. Another advantage of real-time PCR methods is that they do not need ethidium bromide, which is subject to strict and constraining regulations in many countries, is increasingly restricted in the food industry and less and less common in routine laborato ...
Specificity of Insertion by the Translocatable Tetracycline Resistance Element Tn10.
Specificity of Insertion by the Translocatable Tetracycline Resistance Element Tn10.

... different insertions within a cluster. Different insertions within a cluster usually have the same reversion frequency; however, heterogeneity in reversion frequency has been detected in at least two clusters. For most clusters, the available data are consistent with the simple possibility that all ...
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Nutriepigenomics

Nutriepigenomics is the study of food nutrients and their effects on human health through epigenetic modifications. There is now considerable evidence that nutritional imbalances during gestation and lactation are linked to non-communicable diseases, such as obesity, cardiovascular disease, diabetes, hypertension, and cancer. If metabolic disturbances occur during critical time windows of development, the resulting epigenetic alterations can lead to permanent changes in tissue and organ structure or function and predispose individuals to disease.
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