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Supplementary Legends
Supplementary Legends

... based on copy number alterations and somatic mutations. Frequency plot and multi-Fisher's exact test comparisons of copy number gains and losses in (a) MBCs and triple-negative IDC-NSTs and in (b) MBCs of triple-negative phenotype and triplenegative IDC-NSTs, and frequency plot and multi-Fisher's ex ...
Modern Genetics
Modern Genetics

... Mendel discovered the basic rules of genetics but in reality, most traits are controlled by much more complex ...
Recombination and Linkage
Recombination and Linkage

... Problem: the deminator in the means test, is correct for perfect IBD information, but is too small in the case of incomplete data ...
Purdue Agricultures Cellular clues Animal sciences researchers
Purdue Agricultures Cellular clues Animal sciences researchers

... Whether in well-known people or your neighbor, Parkinson’s can progress at various rates and affect each person somewhat differently. These variations explain why sometimes diagnosis takes a long time and the illness sometimes initially is thought to be a different neurodegenerative disorder, such a ...
Alpha Thalassemia - ARUP Lab Test Directory
Alpha Thalassemia - ARUP Lab Test Directory

... o Nondeletional α-globin mutations may be pathogenic or benign  Both may result in an abnormal protein detectable by Hb evaluation  Pathogenic nondeletional mutations often have a more severe effect than single gene deletions • α-globin gene triplications result in three active α-globin genes on a ...
Number 4 - Laboratory Animal Boards Study Group
Number 4 - Laboratory Animal Boards Study Group

... information about the problem, 3) formulate a hypothesis that can be tested, 4) gather objective data to test the hypothesis, and 5) interpret the data in regard to the identified problem. However, funding agencies require hypotheses in the proposal, perhaps assuming steps 1 & 2 were already carried ...
Dankesrede von Prof. Dr. Carol Greider anlässlich der Verleihung
Dankesrede von Prof. Dr. Carol Greider anlässlich der Verleihung

... wanted to understand how chromosomes are maintained, we did not set out to study specific diseases. However, having a fundamental understanding of how cells work is the basis to understand all disease. Today we know that telomere function plays a major role in human disease. In 1984 Dr. Blackburn, a ...
Revision card narcolepsy
Revision card narcolepsy

... Narcolepsy is a disorder marked by excessive daytime sleepiness, uncontrollable sleep attacks, and cataplexy (a sudden loss of muscle tone, usually lasting up to half an hour). Two main symptoms are feeling sleepy al the time and episodes of cataplexy. Cataplexy is sudden and transient episode of lo ...
Exam 2 Mcbio 316 Answers
Exam 2 Mcbio 316 Answers

... Allele-specific means that a mutant caused by one mutant allele only interacts with certain other mutants caused by a limited number of alleles (note the interaction is usually between amino acids with other amino acids or amino acids with DNA, not between DNA and DNA). [2 points for this half of an ...
Gene Section CASP7 (caspase 7, apoptosis-related cysteine peptidase) Atlas of Genetics and Cytogenetics
Gene Section CASP7 (caspase 7, apoptosis-related cysteine peptidase) Atlas of Genetics and Cytogenetics

... Expression of the tumor-derived CASP7 mutants in 293T cells showed that apoptosis was reduced compared to the wild-type caspase-7, suggesting that inactivating mutations of CASP7 might contribute to the pathogenesis of some human solid cancers. Genetic polymorphisms in the CASP7 gene may affect canc ...
Problems (pts.)
Problems (pts.)

... Here is the abstract of the paper: R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the ...
1st_pres_Geneprediction
1st_pres_Geneprediction

... • Intrinsic Gene Prediction Method. • Inspect the input sequence and search for traces of gene presence. • Extract information on gene locations using statistical patterns inside and outside gene regions as well as patterns typical of the gene ...
Genetic Contribution to Coronary Atherosclerosis
Genetic Contribution to Coronary Atherosclerosis

... Understanding the genetic mechanisms underlying coronary artery disease is as complex as it is important. Despite current advances in molecular genetics, genomics and bioinformatics, deciphering the genetic contribution to coronary artery disease remains a challenge. Just as genetic analysis depends ...
Methods - BioMed Central
Methods - BioMed Central

... deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. EDM2 inheritance is autosomal dominant. DISEASE: Defects in COL9A2 may be a cause of susceptibility to intervertebral disc dise ...
2016 department of medicine research day
2016 department of medicine research day

... Background: Liposarcomas are a rare group of neoplasms which can be locally controlled with surgery and radiation therapy. However, for patients who relapse or present with metastatic disease, efficacious systemic therapy options are an unmet need. The objective response rate to systemic chemotherap ...
Will Entrez Find Every Sequence Record?
Will Entrez Find Every Sequence Record?

... • The sequences that you miss are the ones that have not been annotated with the current official gene symbol in the “gene” field • DO NOT use this method if you need to find every sequence for a particular gene ...
Lecture 7 Mutation and genetic variation
Lecture 7 Mutation and genetic variation

... • one mechanism believed responsible is unequal crossing over. • over time, this process may lead to the development of multi-gene families. ...
Nerve activates contraction
Nerve activates contraction

... tract, and elsewhere favors bacterial infections. • Without treatment, affected children die before five, but with treatment can live past their late 20’s. Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings ...
Formal Genetics of Humans: Modes of Inheritance
Formal Genetics of Humans: Modes of Inheritance

... undergo progressive neurological deterioration until death at 2-4 years. The effects of neuronal cell death can be seen directly in the form of so-called cherry-red spot in the retina. ...
The Gene Hunters
The Gene Hunters

... There’s a simple reason that no one has found a new Alzheimer’s gene in more than a decade, and another reason that is less simple, and they both come down to the same thing: statistics. Risk-factor genes, the genes that will explain late-onset Alzheimer’s, are inherently elusive, because carrying t ...
two new dna based tests available for the nsdtr
two new dna based tests available for the nsdtr

... OFA database. Both of these tests are being offered to breeders prior to peer reviewed scientific publication in order to allow their immediate use in breeding programs. In both cases additional research is being conducted and when it is completed the information about the specific genes involved wi ...
Genetic Associations of Obesity: The Fat-Mass and Obesity
Genetic Associations of Obesity: The Fat-Mass and Obesity

... rs9939609 and pancreatic cancer is independent of obesity. It is not clear if the risk associated with this FTO variant is relevant outside of East Asian populations; however, given the significant mortality of pancreatic cancer, this topic should be further studied. 4. Bariatric surgery. The use of ...
Figure S4 Phylogenetic analysis of MdMYB121 and abiotic
Figure S4 Phylogenetic analysis of MdMYB121 and abiotic

... Figure S5. Phylogenetic analysis of MdoMYB121 and abiotic stress-related MYBs from other species. The tree was constructed using the neighbor-joining method of the MEGA5 program with 1000 bootstrap replicates. OsMYB, HvMYB, TaMYB, GmMYB, ZmMYB, CpMYB, and CmMYB protein from Oryza sativa, Hordeum vul ...
Child with hematological dysfunction
Child with hematological dysfunction

... • A male has an X chromosome from his mother and a Y chromosome from his father. If a woman has the defect on one of her X chromosomes, and the father's X chromosome is normal, there is a 25% chance for each pregnancy to produce: an unaffected girl; a girl who carries the defect; an unaffected boy; ...
Parent organism - Office of the Gene Technology Regulator
Parent organism - Office of the Gene Technology Regulator

... Some specific Dow AgroSciences documents, which contain details of the gene constructs, gene sequence information and molecular characterisation of the inserted genetic materials, have previously been declared as Confidential Commercial Information (CCI) under Section 185 of the Act, in connection w ...
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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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