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`Am not I a fly like thee?` From genes in fruit flies to behavior in humans
`Am not I a fly like thee?` From genes in fruit flies to behavior in humans

... also been shown to protect against polyglutamine-induced degeneration in the fly eye (21). In one instance, that of the SCA3/MJD mutant gene, the antiapoptotic gene bcl-2 was also shown to have a protective effect. Flies expressing this SCA3/MJD mutant gene have been tested behaviorally and shown to ...
Novartis Innovation Vol.3
Novartis Innovation Vol.3

... NIBR’s research investigator Yi Yang and others used CRISPR to attach short protein tags to several genes involved in cancer. The tagged genes create fused proteins that wither quickly unless a shield compound protects them. Changing the amount of the shield compound mimics how an actual small molec ...
Mutations - Fulton County Schools
Mutations - Fulton County Schools

...  …ALSO AN EFFECT…BUT WANTED TO PUT AFTER  frameshift – changes the “reading frame”  caused by insertion/deletion ...
Chapter 11 Exam Review
Chapter 11 Exam Review

... 28. Blood type is an example of __________________ because both type A ( IA) and B ( IB) are fully expressed in the presence of the other.. 29. An example of _________________________ is when a long stemmed flower is crossed with a short stemmed flower to produce a medium length stemmed flower. 30. ...
Leukaemia Section t(1;21)(p22;q22) RUNX1/CLCA2  Atlas of Genetics and Cytogenetics
Leukaemia Section t(1;21)(p22;q22) RUNX1/CLCA2 Atlas of Genetics and Cytogenetics

... with daunorubicine) and two cycles of consolidation therapy with high doses cytarabine, followed by a reduced intensity allogeneic stem cell transplantation. The t(1;21) positive t-AML was not treated with chemotherapy. The patient received palliative care. ...
Inheritance 2 - SAVE MY EXAMS!
Inheritance 2 - SAVE MY EXAMS!

... (b) The DNA of an organism determines its phenotype. White tigers are produced because of a mutation of a single allele which usually produces the normal orange and yellow fur pigmentation. The mutated allele is recessive. Samba, a male white tiger, was bred with Rani. They had three offspring; two ...
Focus Summer 2008 - the Royal College of Ophthalmologists
Focus Summer 2008 - the Royal College of Ophthalmologists

... In addition to the obvious psychological and medical benefit to families from molecular investigations, a significant financial saving to may result (3). Risk of Rb to other family members Retinoblastoma is inherited as an autosomal dominant trait and children of patients with genetic Rb have a 50% cha ...
Identification of the 5T‐12TG allele of the cystic fibrosis
Identification of the 5T‐12TG allele of the cystic fibrosis

... investigation (faecal pancreatic elastase, chest X-ray or microbiological investigation) at presentation and if respiratory or intestinal symptoms are present. A strict collaboration with primary-care physicians is mandatory to start the most appropriate treatment early if CF symptoms begin. Clinica ...
Mycobacterium tuberculosis
Mycobacterium tuberculosis

... This Mycobacterium tuberculosis (strain ATCC 25618 / H37Rv) Gene Database is UniProt-centric in that the main data source (primary ID System) for gene IDs and annotation is the UniProt complete proteome set for Mycobacterium tuberculosis (strain ATCC 25618 / H37Rv), made available as an XML download ...
Cancer Prone Disease Section Currarino syndrome Atlas of Genetics and Cytogenetics
Cancer Prone Disease Section Currarino syndrome Atlas of Genetics and Cytogenetics

... described but is a rare occurance. The histological appearances are varied and often poorly described particularly in the older literature. A 32 year old women, who was known to have a presacral teratoma, died from metastatic spread of the tumour. Histological findings were not included in the repor ...
Biotechnology Australia
Biotechnology Australia

... Most vaccines are: low doses of dead disease - causing microorganisms; inactivated toxins from disease - causing bacteria; or weakened living diseasecausing organisms that are unable to cause the severe form of the disease. A vaccine is recognised by the body as a foreign substance. The cells of the ...
The role of the tumour suppressor p33ING1b in human neoplasia
The role of the tumour suppressor p33ING1b in human neoplasia

... physically interact with the TP53 tumour suppressor gene protein product p53, whereas cotransfection studies confirmed the ability of ING1 to modulate p53 dependent transactivation of the kinase inhibitor p21WAF1.6 23 30 Extension of these preliminary findings suggested that the association of compe ...
Document
Document

... has to get that one allele from a parent to get the disease! Most people who have the disease are heterozygous (Hh), and they usually marry someone who is homozygous recessive (hh). Another disease which is now normally screened for after the birth of a baby is phenylketonuria (PKU). This disease re ...
endocrine pathophysilogy
endocrine pathophysilogy

...  Excessive intake of inorganic phosphate compound  Pseudohypoparathyroidism  Severe hypomagnesemia ...
DO NOT WRITE ON THIS PAPER
DO NOT WRITE ON THIS PAPER

... 1. Let 50 red beans represent the allele for fur and 50 white beans represent the allele for no fur in a Bengal tiger population. 2. Let the paper bag represent the deep dark jungles of India where ...
Mutations and Genetic Change
Mutations and Genetic Change

... 4. If a mutation causes a sequence of nucleotides to change from ACGAGA to ACGAGGA, the mutation is called a(n) [insertion / deletion] mutation. 5. Mutations that change one or just a few nucleotides in a gene on a chromosome are called [random / point] mutations. 6. If a point mutation is such that ...
Mitochondrial and other neuromuscular disorders
Mitochondrial and other neuromuscular disorders

... Other important proteins of the sarcomere, which is the contractile unit of muscle, are actin, tropomyosin and troponin. We have identified genetic defects in these proteins that lead to congenital muscle diseases. On group of these disorders, distal arthrogryposis, is characterized by congenital jo ...
Pedigree Challenge
Pedigree Challenge

... acid) into tyrosine (another amino acid). IN PKU people, phenylalanine starts to build up and prevents the normal brain and central nervous system development. PKU happens in 1 out of 11 000 people in the U.S. If PKU is undetected, it can lead to severe mental retardation, which is not reversible. H ...
Dihybrid Crosses
Dihybrid Crosses

... tell how many of each phenotype will be present. 1. In tomatoes, tall plants ( T ) are dominant over short plants ( t ). Round fruit (R ) is dominant over oval fruit ( r ). Cross two heterozygous tomato plants with each other. (Show punnett square and phenotypes) 2. In honey bees, black body color ( ...
Example of a poster - University of Florida
Example of a poster - University of Florida

... and severe disease phenotypes in affected patients. Retention of farnesyl group causes progerin to become permanently anchored in the nuclear membrane and unable to be released. The central rod domain of progerin then allows dimerization with mature nonfarnesylated LA and asse ...
Document
Document

... and severe disease phenotypes in affected patients. Retention of farnesyl group causes progerin to become permanently anchored in the nuclear membrane and unable to be released. The central rod domain of progerin then allows dimerization with mature nonfarnesylated LA and asse ...
charge syndrome
charge syndrome

... does not rule out the diagnosis of CHARGE syndrome. 2. The clinical course or severity of symptoms cannot be predicted by molecular analysis. 3. Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. 4. If molecular analysis is negative, ch ...
Rare Genetic Diseases with Human Lean and/or Starvation
Rare Genetic Diseases with Human Lean and/or Starvation

... The high redundancy of genes involved in energy management makes it unlikely that obesity will ever be controlled by targeting just one of those genes unless such a gene target is associated with a lean or starvation phenotype. In an earlier study we proposed that the identification of novel targets ...
Sickle cell disease: A multigenic perspective of a single gene disorder
Sickle cell disease: A multigenic perspective of a single gene disorder

... Half a century has elapsed since the elucidation of the molecular basis of the sickle hemoglobin mutation in the mid 50s. Although significant progress has been made in our understanding of the disease and in the development of new therapies, many questions are still unanswered, and a cure remains e ...
Gene Flow Up to now, we have dealt with local populations in which
Gene Flow Up to now, we have dealt with local populations in which

... Grebes had apparently split and differentiated into two color morphs (light and dark) in the past. These two morphs now occur together in certain parts of the West. In one population, expected 33% of the mating pairs to be mixed under random mating; but due to strong positive assortative mating, onl ...
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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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