Determining the Transcription Factor Genes Populating a Fruit Fly
... bab2 genes. These transgene lines came from the Vienna Drosophila RNAi Center
(Dietzl et al., 2007). The Transgenic RNAi Project lines were derived by use of the
VALIUM1 and VALIUM10 vectors which include long dsRNA hairpin (Ni et.al., 2008,
2009), while lines produced from the VALIUM20, VALIUM21, a ...
Genetic polymorphisms among C57BL/6 mouse inbred strains
... strain that is used, or the C57BL/6 strain from which
ES cells were originally derived for the generation of
the corresponding mouse knock-out, are crucial for the
correct design and interpretation of the corresponding
experiment involving any of these mice.
There are two major substrains of C57BL/6 ...
Haemophilia (2013) - Haemophilia Foundation Australia
... Haemophilia B, also known as Christmas
Disease, is caused by having reduced
levels of clotting factor IX (9).
Haemophilia is not contagious.
There is also another bleeding disorder known as acquired haemophilia, which is
not inherited like the classical form of haemophilia. This is a very rare condi ...
Mutations affecting development of the notochord in zebrafish
... Allelism was tested first between mutations producing similar phenotypes. This defined a smaller number of complementation groups
between which complementation tests were subsequently performed.
For each complementation test an identified, confirmed heterozygous
fish of one genotype was crossed with ...
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)
... congenital cutis laxa in association with severe central nervous system involvement, brain migration defects,
seizures, and hearing loss. The X-linked form is currently classified in the group of copper transport diseases.
The precise cause is unknown, but it may be due to abnormal elastin metabolis ...
NF1 Gene Test Review - The Friedman Lab at UBC
... disease, central nervous system (CNS) tumors, or malignant
peripheral nerve sheath tumors.
NF1 is characterized by extreme clinical variability, not only
among unrelated individuals and among affected individuals
within a single family but also even within a single person at
different times in life. ...
2.1.databases_intro - T
... Fully-annotated (manually), non-redundant, crossreferenced, documented protein sequence database.
~100 ’000 sequences from more than 6’800 different
species; 70 ’000 references (publications); 550 ’000 crossreferences (databases); ~200 Mb of annotations.
GENETIC AND MOLECULAR ANALYSIS OF THE garnet EYE
... A critical test of this model requires molecular cloning and analysis of the
individual members of the transport group of eye colour genes. Preliminary
molecular analysis of the garnet gene is reported in chapter two. The garnet
gene is expressed in many different tissues at different stages in deve ...
anatomical skin dimples
... fissure follows the fissure in the lower jaw bone that
resulted from the incomplete fusion of the left and right
halves of the jaw bone, or muscle, during the embryonal
and fetal development. For other individuals, it can develop
over time, often because one half of the jaw is longer than
the other, ...
X-Chromosome inactivation ratios affect wild-type
... head growth, ataxia, autistic features, seizures and breathing
abnormalities (3). RTT is caused by mutations in MECP2,
encoding methyl-CpG-binding protein 2 (MeCP2) (4).
Although MECP2 is ubiquitously expressed at the transcriptional level (5 – 7), tissue-specific and developmental regulation of MEC ...
The Plasmodium 6-cysteine protein family in sexual and sporozoite
... disease malaria, which is primarily caused by the parasites Plasmodium falciparum
and Plasmodium vivax  and is transmitted to humans by Anopheles mosquitoes. P.
falciparum is the cause of most mortality and although P. vivax is perceived as benign,
both Plasmodia actually account for severe disea ...
Engrailed cooperates with extradenticle and homothorax to repress
... Fig. 1F-H, complete removal of both maternal and zygotic exd
function caused a dramatic drop in En repression activity on
the slp gene. However, as with hth, there appeared to be
residual activity even in the absence of exd function. Thus,
although En retains a residual repression activity in vivo
... the other according to the reaction: ATP + H2O +
H+(in) = ADP + phosphate + H+(out), by a
rotational mechanism [goid 46961] [evidence
IEA]; Catalysis of the transfer of a solute or solutes
from one side of a membrane to the other
according to the reaction: ADP + phosphate = ATP
+ H2O, coupled with t ...
Visceral endoderm-restricted translation of Otx1
... dorsal telencephalon where Otx2 is not transcribed. Therefore,
these findings support two hypotheses: (i) Otx1 and Otx2
functional properties might largely overlap and differences in
their temporal and spatial transcriptional control might account
for the highly divergent phenotypes observed in mice ...
Treatment for spina bifida depends on
the extent of spinal cord involvement
- Spina bifida occulta usually requires no treatment
unless pain from tethering develops
- Meningocele usually requires removal and early
management of the cyst
- Myelomeningocele usually requires the most
Establishing neuroblast-specific gene expression in the Drosophila
... Huckebein is observed in position-specific
neuroectodermal clusters and neuroblasts
The spatial pattern of Hkb in the neuroectoderm is
complex but highly reproducible (Fig. 1D-F). The
neuroectoderm can be divided into seven rows along
the A/P axis and three columns along the mediolateral
axis; these ...
Asymmetries in Retrieval of Gene Function Information
... of the source followed by a slash followed by an accession number and can
be searched with one or both components, e.g., genbank [si], AF001892
[si], genbank/AF001892 [si].
The SI field and the Entrez sequence database links are not linked.
The PubMed links to these databases are created from the re ...
Ingenuity Variant Analysis
... enzyme that inactivates thiopurine drugs, which are used to treat certain cancers of the
bone marrow, various auto-immune diseases and transplant patients. Individuals with
reduced activity of the TPMT enzyme are more likely to suffer from toxic effects
following treatment with conventional doses of ...
Section 1 The application - Office of the Gene Technology Regulator
... must follow when considering an application for a licence to intentionally release a genetically
modified organism (GMO) into the environment.
For a licence to be issued, the Regulator must be satisfied that the release will not pose any risks
to human health and safety and the environment that can ...
... during plant development (Wen-Hui Shen)
– 30 min
• Genome-wide analyses of Arabidopsis
chromatin remodeler BRM reveal its
functions in transcription regulation and
plant growth control (R. Archacki) – 30 min
• HD2C histone deacetylase and a SWI/SNF
complex are both involved in mediating
the heat s ...
Tapanes-Castillo A, Weaver EJ, Smith RP, Kamei Y, Caspary T, Hamilton-Nelson KL, Slifer SH, Martin ER, Bixby JL, Lemmon VP. Neurogenetics. 2012 Feb;11(1):53-71. A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice.
... on the reason for the defect in CSF flow. Communicating
hydrocephalus arises from problems with CSF secretion or
resorption; CSF flows freely between the ventricles and
the subarachnoid space. On the other hand, noncommunicating hydrocephalus develops when a physical
obstruction blocks CSF flow betw ...
Expression and characterization of von Willebrand
... on multimer analysis of vWF, which found absence of the triplet
structure and absence of HMWM from both plasma and platelets.
The fastest migrating electrophoretic band was not pronounced12
(Figure 1), which is in contrast to findings in vWD 2A/IIC. The
markedly reduced vWF:Ag levels in the patient ...
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
Attachment 2.2 Sequencing results
... tumour initiation and progression. [19-22] The TCDD-dependant release from contact
inhibition seems to be a common phenomenon as it is observed in several cell lines. 
In the human breast cancer epithelial cell line MCF-7 a down regulation of E-cadherin (a
transmembrane protein playing an import ...
Epigenetics of neurodegenerative diseases
Neurodegenerative diseases are a heterogenous group of complex disorders linked by the degeneration of neurons in either the peripheral nervous system or the central nervous system. Their underlying causes are extremely variable and complicated by various genetic and/or environmental factors. These diseases cause progressive deterioration of the neuron resulting in decreased signal transduction and in some cases even neuronal death. Peripheral nervous system (PNS) diseases may be further categorized by the type of nerve cell (motor, sensory, or both) affected by the disorder. Effective treatment of these diseases is often prevented by lack of understanding of the underlying molecular and genetic pathology. Epigenetic therapy is being investigated as a method of correcting the expression levels of misregulated genes in neurodegenerative diseases.Neurodengenerative diseases of motor neurons can cause degeneration of motor neurons involved in voluntary muscle control such as muscle contraction and relaxation. This article will cover the epigenetics and treatment of Amyotrophic lateral sclerosis (ALS) and Spinal muscular atrophy (SMA). See the Motor Neuron Fact Sheet for details regarding other motor neuron diseases.Neurodegenerative diseases of the central nervous system can affect the brain and/or spinal cord. This article will cover the epigenetics and treatment of Alzheimer’s disease (AD), Huntington’s disease (HD), and Parkinson’s disease (PD). These diseases are characterized by chronic and progressive neuronal dysfunction, sometimes leading to behavioral abnormalities (as with PD), and, ultimately, neuronal death, resulting in dementia.Neurodegeneration Neurodegenerative diseases of sensory neurons can cause degeneration of sensory neurons involved in transmitting sensory information such as hearing and seeing. The main group of sensory neuron diseases are hereditary sensory and autonomic neuropathies (HSAN) such as HSAN I, HSAN II, and Charcot-Marie-Tooth Type 2B (CMT2B). Though some sensory neuron diseases are recognized as neurodegenerative, epigenetic factors have not yet been clarified in the molecular pathology and as such will not be covered in this article. See the Sensory neuron article for details.