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Johanna Rommens
Johanna Rommens is a Canadian geneticist who was on the research team which identified and cloned the CFTR gene, which when mutated, is responsible for causing cystic fibrosis (CF). She later discovered the gene responsible for Shwachman-Diamond syndrome, a rare genetic disorder that causes pancreatic and hematologic problems. She is a Senior Scientist Emeritus at SickKids Research Institute and a Professor in the Department of Molecular Genetics at the University of Toronto. Early life and education Rommens grew up on a farm in eastern New Brunswick, Canada. She earned both her bachelor's degree and a PhD in molecular biology from the University of New Brunswick in Fredericton. She was awarded a Beaverbrook Scholarship for her undergraduate education, and she earned a dual undergraduate degree in biology and organic chemistry. During her graduate education she studied synthetic chemistry in addition to molecular biology, and she received her PhD in 1986. In 1986, she started p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University Of New Brunswick
The University of New Brunswick (UNB) is a public university with two primary campuses in Fredericton and Saint John, New Brunswick. It is the oldest English-language university in Canada, and among the oldest public universities in North America.University of New Brunswic Retrieved on: August 18, 2008. UNB was founded by a group of seven Loyalist (American Revolution), Loyalists who left the United States after the American Revolution.Happy Birthday to the University of New Brunswick . ''MacLeans''. By . Retrieved 2012-03-03. UNB has two main campuses: the original campus, founded in 178 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Germ Cell
Germ or germs may refer to: Science * Germ (microorganism), an informal word for a pathogen * Germ cell, cell that gives rise to the gametes of an organism that reproduces sexually * Germ layer, a primary layer of cells that forms during embryonic development * Cereal germ, the reproductive part of a cereal grain * Tooth germ, an aggregation of cells that eventually forms a tooth * Germ theory of disease, which states that some diseases are caused by microorganisms * Germ (mathematics), an object in a topological space that captures local properties Art and media Music * Germs (band), an American punk rock band * Germ (musician), a stage name of Tim Wright * Germ (rapper), an American rapper affiliated with Suicideboys and Pouya * "Germs" (song), by "Weird Al" Yankovic * ''The Germ'' (album), by Victim's Family Others * "Germs" (''Invader Zim''), an episode of ''Invader Zim'' * ''The Germ'' (periodical), a British art magazine published in 1850 * The Germs (comics) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Canadian Geneticists
Canadians (french: Canadiens) are people identified with the country of Canada. This connection may be residential, legal, historical or cultural. For most Canadians, many (or all) of these connections exist and are collectively the source of their being ''Canadian''. Canada is a multilingual and multicultural society home to people of groups of many different ethnic, religious, and national origins, with the majority of the population made up of Old World immigrants and their descendants. Following the initial period of French and then the much larger British colonization, different waves (or peaks) of immigration and settlement of non-indigenous peoples took place over the course of nearly two centuries and continue today. Elements of Indigenous, French, British, and more recent immigrant customs, languages, and religions have combined to form the culture of Canada, and thus a Canadian identity. Canada has also been strongly influenced by its linguistic, geographic, and ec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wilson's Disease
Wilson's disease is a genetic disorder in which excess copper builds up in the body. Symptoms are typically related to the brain and liver. Liver-related symptoms include vomiting, weakness, fluid build up in the abdomen, swelling of the legs, yellowish skin and itchiness. Brain-related symptoms include tremors, muscle stiffness, trouble in speaking, personality changes, anxiety, and psychosis. Wilson's disease is caused by a mutation in the Wilson disease protein (''ATP7B'') gene. This protein transports excess copper into bile, where it is excreted in waste products. The condition is autosomal recessive; for a person to be affected, they must inherit a mutated copy of the gene from both parents. Diagnosis may be difficult and often involves a combination of blood tests, urine tests and a liver biopsy. Genetic testing may be used to screen family members of those affected. Wilson's disease is typically treated with dietary changes and medication. Dietary changes involve e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Huntington's Disease
Huntington's disease (HD), also known as Huntington's chorea, is a neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental abilities. A general lack of coordination and an unsteady gait often follow. It is also a basal ganglia disease causing a hyperkinetic movement disorder known as chorea. As the disease advances, uncoordinated, involuntary body movements of chorea become more apparent. Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk. Mental abilities generally decline into dementia. The specific symptoms vary somewhat between people. Symptoms usually begin between 30 and 50 years of age but can start at any age. The disease may develop earlier in each successive generation. About eight percent of cases start before the age of 20 years, and are known as ''juvenile HD'', which typically present with the slow movement symptoms of Parkinson's d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alzheimer's Disease
Alzheimer's disease (AD) is a neurodegeneration, neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in short-term memory, remembering recent events. As the disease advances, symptoms can include primary progressive aphasia, problems with language, Orientation (mental), disorientation (including easily getting lost), mood swings, loss of motivation, self-neglect, and challenging behaviour, behavioral issues. As a person's condition declines, they often withdraw from family and society. Gradually, bodily functions are lost, ultimately leading to death. Although the speed of progression can vary, the typical life expectancy following diagnosis is three to nine years. The cause of Alzheimer's disease is poorly understood. There are many environmental and genetic risk factors associated with its development. The strongest genetic risk factor is from an alle ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Casco, Maine
Casco is a town in Cumberland County, Maine, United States. The population was 3,646 at the 2020 census. Casco includes the villages of Casco, South Casco and Cook Mills. The town borders the east shore of Sebago Lake, and is home to part of Sebago Lake State Park. Casco is part of the Portland– South Portland–Biddeford, Maine metropolitan statistical area. Casco is just under from downtown Portland. Casco is the home of "Casco Days", an annual community fair which takes place in Casco Days Park, always on the last Saturday in July. History On January 30, 1767, Raymondtown Plantation was granted by the Massachusetts General Court to Capt. William Raymond of Beverly, Massachusetts and his company of soldiers for their service with Sir William Phipps in the 1690 Battle of Quebec. It replaced a 1735 grant called Beverly-Canada (now Weare, New Hampshire) which was ruled invalid in 1741 because of a prior claim by the heirs of John Mason. In 1803, Raymondtown Plan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ribosome
Ribosomes ( ) are macromolecular machines, found within all cells, that perform biological protein synthesis (mRNA translation). Ribosomes link amino acids together in the order specified by the codons of messenger RNA (mRNA) molecules to form polypeptide chains. Ribosomes consist of two major components: the small and large ribosomal subunits. Each subunit consists of one or more ribosomal RNA (rRNA) molecules and many ribosomal proteins (RPs or r-proteins). The ribosomes and associated molecules are also known as the ''translational apparatus''. Overview The sequence of DNA that encodes the sequence of the amino acids in a protein is transcribed into a messenger RNA chain. Ribosomes bind to messenger RNAs and use their sequences for determining the correct sequence of amino acids to generate a given protein. Amino acids are selected and carried to the ribosome by transfer RNA (tRNA) molecules, which enter the ribosome and bind to the messenger RNA chain via an anti-c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nonsense Mutation
In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a ''nonsense codon'' in the transcribed mRNA, and in leading to a truncated, incomplete, and usually nonfunctional protein product. The functional effect of a nonsense mutation depends on the location of the stop codon within the coding DNA. For example, the effect of a nonsense mutation depends on the proximity of the nonsense mutation to the original stop codon, and the degree to which functional subdomains of the protein are affected. As nonsense mutations leads to premature termination of polypeptide chains; they are also called chain termination mutations. Missense mutations differ from nonsense mutations since they are point mutations that exhibit a single nucleotide change to cause substitution of a different amino acid. A nonsense mutation also differs from a nonstop mutation, which is a point mutation that removes a stop codon. About 10% of patients facin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pseudogene
Pseudogenes are nonfunctional segments of DNA that resemble functional genes. Most arise as superfluous copies of functional genes, either directly by DNA duplication or indirectly by Reverse transcriptase, reverse transcription of an mRNA transcript. Pseudogenes are usually identified when genome sequence analysis finds gene-like sequences that lack regulatory sequences needed for Transcription (biology), transcription or Translation (biology), translation, or whose coding sequences are obviously defective due to Frameshift mutation, frameshifts or premature stop codons. Most non-bacterial genomes contain many pseudogenes, often as many as functional genes. This is not surprising, since various biological processes are expected to accidentally create pseudogenes, and there are no specialized mechanisms to remove them from genomes. Eventually pseudogenes may be deleted from their genomes by chance DNA replication or DNA repair errors, or they may accumulate so many mutational cha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SBDS
Ribosome maturation protein SBDS is a protein that in humans is encoded by the ''SBDS'' gene. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. Function The encoded protein plays an essential role in ribosome biogenesis. SBDS interacts with elongation factor-like GTPase 1 (Efl1) to disassociate eukaryotic initiation factor 6 (eIF6) from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S. Dynamic rotation of the SBDS protein in the ribosomal P site is coupled to a conformational switch in EFL1 that promotes eIF6 displacement through competition for an overlapping binding site on the 60S ribosomal subunit. Yeast SBDS ortholog, Sdo1, functions within a pathway containing Efl1 to facilitate the release and recycling of the nucleola ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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