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rolduc meeting. feel connected!
rolduc meeting. feel connected!

... We wish you all a pleasant stay and a fruitful meeting and we hope that the Rolduc Genetics Retreat makes everyone feel connected to the common cause of furthering our understanding of human disease for the benefit of patient care. ...
Cavy Genetics - British Cavy Council
Cavy Genetics - British Cavy Council

... word factor is commonly used to mean allele. You might hear a fancier say that a given pig is “carrying chocolate factor” for example. In genetic terms this means that the individual is heterozygous for a particular gene affecting colour and one parent has provided an allele that will produce chocol ...
Case Report Section
Case Report Section

... ALL panel DNA probes including CEP 4, 10, and 17 alpha satellite probes, LSI MLL dual-color break apart probe, BCR/ABL and TEL/AML1 dual-fusion translocation probes was performed (Abbott Molecular, ...
Identifying genetic susceptibility factors for
Identifying genetic susceptibility factors for

... Among inbred strains of mice, natural resistance to infection with several antigenically unrelated intracellular pathogens is controlled by a single dominant gene on mouse chromosome 1, designated Bcg (also known as Lsh\Ity) [23,24]. Two distinct non-overlapping phenotypes are recognized, Bcgs and B ...
Word - The Open University
Word - The Open University

... counselling in the USA and Europe, there are still debates about it in a medical setting. One problem is how to assess the success of a counselling service. How can one measure ‘effective communication’, and ‘good decision-making’? For example, should pre-natal diagnosis be assessed in terms of the ...
Trichoderma reesei RUT-C30 – thirty years of strain
Trichoderma reesei RUT-C30 – thirty years of strain

... induction of the UPR mediated by the hac1 gene was also demonstrated in RUT-C30 under secretion stress by dithiothreitol (DTT) treatment (Saloheimo et al., 2003). Northern analysis and reverse transcription-PCR (RTPCR) were used to reveal splicing of a 20 nt intron in the hac1 gene upon UPR inductio ...
Association of Apolipoprotein E Alleles with Susceptibility to Age
Association of Apolipoprotein E Alleles with Susceptibility to Age

... years old). Demographic data were obtained through standard questionnaires. All subjects had undergone a complete ophthalmologic examination and their diagnosis was confirmed by ophthalmologist. Individuals with good visual acuity and no signs of macular abnormalities including drusen, exudative cha ...
SNP rs2157719 in the CDKN2B-AS1 gene gene
SNP rs2157719 in the CDKN2B-AS1 gene gene

... exact biological function of this non-coding gene is largely unknown. However, it has been shown to regulate transcription of CDKN2A/2B through epigenetic mechanisms and implicated in several other diseases [4-6]. In addition, the expression of CDKN2B/AS1 is dramatically induced by transforming grow ...
1_Genbank
1_Genbank

... Sequence databases are great tools because they offer a unique window on the past. They make it possible to answer today’s biological questions by enabling us to analyze sequences that may have been determined as many as 25 years ago, when the whole technology emerged. By doing this, they connect pa ...
Commentaries on Viewpoint: Epigenetic regulation of the ACE gene
Commentaries on Viewpoint: Epigenetic regulation of the ACE gene

... because the definition of the “elite athlete” and the heterogeneity of the elite athlete phenotype may be variable. It is not clear how the ACE I/D polymorphism contributes to the enzyme level, nevertheless, in some cases it is known that the D allele mRNA is more abundant that the I allele mRNA (5) ...
UvA-DARE (Digital Academic Repository)
UvA-DARE (Digital Academic Repository)

... the Library: http://uba.uva.nl/en/contact, or a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible. ...
19.1 Somatostatin Was the First Human Peptide Hormone Produced
19.1 Somatostatin Was the First Human Peptide Hormone Produced

... by Recombinant Bacteria During the 1970s, geneticists became aware of the great potential of recombinant DNA technology to produce therapeutic agents to treat certain human diseases. Healthy individuals possess many different genes that encode short peptide and longer polypeptide hormones. Diseases ...
03 Inheritance booklet for.2015
03 Inheritance booklet for.2015

... Jennie and Tom are a young married couple planning a family, and decide to have genetic tests prior to having children. The couple received their results and found out that they are both carriers for CF. Carriers are people who have one cystic fibrosis allele and one normal allele, so they do not ha ...
Ineritance Packet inheritancepacket
Ineritance Packet inheritancepacket

... GENE- A segment of a chromosome that determines a particular trait of an organism by coding for specific proteins. GAMETE- Egg and sperm cells (sex cells). They have half the chromosomes compared do other cells in the body (23 individual chromosomes for humans). SOMATIC CELLS- Cells in the body othe ...
Pedigrees
Pedigrees

... genetic history.  Pedigrees are used to find out the probability of a child having a disorder in a particular family.  To begin to interpret a pedigree, determine if the disease or condition is autosomal or Xlinked and dominant or recessive. ...
Gene-Environment Interaction: Definitions and Study Designs
Gene-Environment Interaction: Definitions and Study Designs

... to disorders with complex genetic influences, consider the joint effects of genetic susceptibility and heavy alcohol drinking on risk for epilepsy (recurrent unprovoked seizures). There is strong evidence for a genetic component in some forms of epilepsy [16]. However, the familial distribution does ...
TBK1 Gene Duplication and Normal
TBK1 Gene Duplication and Normal

... populations studied in the prior 2 reports of TBK1 and NTG18,19 are combined with the data from the current report, 5 of 803 NTG patients (0.62%) were found to carry TBK1 gene duplications, whereas no such mutations were identified in 1116 controls. TBK1 duplications have been detected in African Am ...
A Predictive Based Regression Algorithm for Gene Network
A Predictive Based Regression Algorithm for Gene Network

... According to our understanding of the problem (i.e. single model based on likelihood methods): YES! However: Focusing on a single model suggests a level of confidence in our final result that is not justified by the data as other models generally exist with similar good fit (Whittingham et al., 2006 ...
Haemophilus influenzae type b (Hib) disease
Haemophilus influenzae type b (Hib) disease

... Hib disease is caused by the bacterium Haemophilus influenzae • In New Zealand, vaccines against Hib disease are available type b. It was the most common cause of life-threatening bacterial free on the National Immunisation Schedule. Infants receive infection in children under 5 years of age before ...
Haemophilus influenzae type b (Hib) disease
Haemophilus influenzae type b (Hib) disease

... Hib disease is caused by the bacterium Haemophilus influenzae • In New Zealand, vaccines against Hib disease are available type b. It was the most common cause of life-threatening bacterial free on the National Immunisation Schedule. Infants receive infection in children under 5 years of age before ...
Cancer Prone Disease Section Multiple osteochondromas (MO) Atlas of Genetics and Cytogenetics
Cancer Prone Disease Section Multiple osteochondromas (MO) Atlas of Genetics and Cytogenetics

... Genes involved and proteins Note MO is a genetically heterogeneous disorder for which at present, two genes, 1 and 2 located respectively on 8q24 and 11p11-p12, have been isolated. The EXT1 gene was reported to show linkage in 44%-66% of the MO families, whereas EXT2 would be involved in ...
Inhibition of protein synthesis by streptogramins and related
Inhibition of protein synthesis by streptogramins and related

... ribosomes in conjunction with cytoplasmic factors which transiently bind to particles during the initiation phase (initiation factors IF1, IF2, IF3), elongation phase (elongation factor EF-Tu, EF-Ts and EF-G) and termination (RF1, RF2, RF3) phases. Bacterial ribosomes are 70S particles comprising tw ...
Часть 1.  - Ассоциация синдрома Ретта
Часть 1. - Ассоциация синдрома Ретта

... syndrome, a dominant X-linked disease affecting only females, we show in this study that de novo MECP2 mutations may have either paternal or maternal origin. In 71% of the cases, the de novo MECP2 mutation has a paternal origin. All the analysed transitions at CpG (two R294X, one R168X, one R270X), ...
Induction of the white egg3 mutant phenotype by injection of the
Induction of the white egg3 mutant phenotype by injection of the

... effect of the dsRNA-mediated interference in the silkworm. In the wild-type silkworm, the eggs and the eyes are dark brown. This colour is caused by the accumulation of ommochrome pigments. Although several different loci responsible for the white egg mutations have been identified, the silkworm whi ...
Gene Section AIP (aryl hydrocarbon receptor interacting protein) in Oncology and Haematology
Gene Section AIP (aryl hydrocarbon receptor interacting protein) in Oncology and Haematology

... composed of 6 exons and spans approximately 8.07 kb of genomic DNA. ...
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Neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinoses (NCL) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the word stem lipo-, which is a variation on ""lipid"" or ""fat"", and from the term pigment, used because the substances take on a greenish-yellow color when viewed under an ultraviolet light microscope. These lipofuscin materials build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys.
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