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Gene mapping of monogenic disorders and complex
Gene mapping of monogenic disorders and complex

... polygenic disorders. Unlike monogenic disorders, polygenic disorders do not usually follow Mendelian inheritance pattern, and appear to be caused by an unknown number of genes. Only a small fraction of affected individuals in some complex diseases such as cardiovascular defects, diabetes and several ...
Genetics of Skin Colour
Genetics of Skin Colour

... the genetic material in skin cells and induce skin cancer. Because most sun induced skin cancers develop well past the reproductive age in people older than 50 years, skin cancer and protection from sunburn are unlikely to have been significant evolutionary factors for the natural selection of ances ...
Outline
Outline

Phytozome Tutorial from David Goodstein
Phytozome Tutorial from David Goodstein

... A successful search will return one, or possibly thousands of gene families (try searching for  kinase or repeat !), so the results page presents an overview of the gene families that have  been found (Figure 7).  Results are ordered in decreasing family size.  Each row shows the  family size, which ...
Cytogenetics Cytogenetics
Cytogenetics Cytogenetics

... • A segment of chromosome is deleted and transferred to a new position in another chromosome, or rarely within the same chromosome. • Recorded as ins, followed by a bracket with the number of the chromosome which receives the segment preceding the number of the chromosome which donates the segment e ...
Evaluation of the phylogenetic position of the planctomycete
Evaluation of the phylogenetic position of the planctomycete

... (Nesbo et al., 2001; Daubin et al., 2001), the informational ribosomal and DNA-directed RNA polymerase genes seem to be the best-suited genes, encoding multisubunit proteins whose sequences can be concatenated to infer phylogeny. In addition, it has been demonstrated recently that the extent to whic ...
Joachim Denner, Ralf R. Tönjes. Infection Barriers to Successful
Joachim Denner, Ralf R. Tönjes. Infection Barriers to Successful

... Extensive research is needed to determine whether animal organs can replace the physiological functions of human organs. Research has been performed in fields such as anatomical design, metabolism, hormonal function, blood viscosity, and coagulation (123, 262, 323). Pig-to-primate kidney transplants ...
A Novel Splicing Mutation of KIT Results in Piebaldism and Auburn
A Novel Splicing Mutation of KIT Results in Piebaldism and Auburn

... matched control samples by direct sequencing. The mutation screening of MC1R gene in all available family individuals (II:3, II:4, III:1, and III:2, Figure 1(a)) detected 4 heterozygous variants of MC1R, including c.274G>A, c.359T>C, c.488 G>A, and c.942 A>G and identified neither heterogeneous nor ...
Chromosomal Microarray Analysis
Chromosomal Microarray Analysis

... • Results of uncertain significance – A gain or loss of chromosomal material not known to result in a defined genetic condition has been detected – This means that a change was found, but there is little or no medical knowledge about the particular change. Whether the change may lead to medical prob ...
Obesity — a genetic disease of adipose tissue?
Obesity — a genetic disease of adipose tissue?

... in the development of overweight, it is very likely that genetic factors also contribute. It appears that one major gene in combination with one or several minor genes constitute the genetic components behind excess accumulation of body fat in most obese individuals. However, monogenic obesity has b ...
Chromosomes and Genetics
Chromosomes and Genetics

... with this condition are severely retarded, as well as having a variety of physical ...
Module 5: Alternative Open Reading Frame
Module 5: Alternative Open Reading Frame

... over the first nucleotide of the highlighted in the start codon and a popup box will show up that has the nucleotide number indicated. Make a note of the number. Scroll down the page until you come to the highlighted stop codon in the same reading frame. Hover your cursor over the LAST nucleotide in ...
Short Tandem Repeat Polymorphism and Cancer Risk: Influence of
Short Tandem Repeat Polymorphism and Cancer Risk: Influence of

... in CA repeats between the two methods, including 5 samples with two-repeat difference, 3 with three-repeat difference, 3 with four-repeat difference, and 1 with fiverepeat difference. Of the 12 samples that had the same allelic difference in CA repeats, only 8 had exactly the same number of repeats ...
Hepatocyte-Cfh -/- mice have reduced plasma FH and C3
Hepatocyte-Cfh -/- mice have reduced plasma FH and C3

... acquired abnormalities in the regulation of the complement alternative pathway (AP). The major negative AP regulator is the plasma protein complement factor H (FH). Abnormalities in FH result in uncontrolled activation of complement C3 through the AP and are associated with susceptibility to both C3 ...
Developmental and Genetic Diseases
Developmental and Genetic Diseases

... Errors of Morphogenesis Normal intrauterine and postnatal development depends on sequential activation and repression of genes. A fertilized ovum (zygote) has all the genes of an adult organism, but most of them are inactive. As the zygote enters cleavage stages of development, individual genes or s ...
Adaptation of Sucrose Metabolism in the Escherichia coli Wild
Adaptation of Sucrose Metabolism in the Escherichia coli Wild

... into each csc gene, respectively. The appropriate orientations of all lacZ insertions were controlled by DNA sequencing. To measure repressor-independent, but cAMP-CrpA-dependent regulatory effects, cscR was deleted by digesting all plasmids with KpnI and StuI and recloning the csc genes carrying DN ...
Genetics - Michael
Genetics - Michael

... fruits (and seeds) and made harvesting easier. Civilizations that could produce more food could also sustain larger armies. The cultural influence of these civilizations expanded over time, and with their success spread their knowledge of selecting for favorable traits in agriculture. Thus, indirect ...
Hereditary Hemochromatosis Since Discovery of the HFE Gene
Hereditary Hemochromatosis Since Discovery of the HFE Gene

... tation in the HFE gene or an as yet unknown gene may be responsible for symptoms. However, the incidence of compound heterozygotes in hemochromatosis patients is higher than expected if H63D or a genetically linked modifier did not contribute to the phenotype (5, 15 ). The C282Y/H63D compound hetero ...
Endogenous Cerberus activity is required for anterior head
Endogenous Cerberus activity is required for anterior head

... Synthetic cerberus mRNA can induce head-like structures when microinjected in the ventral side of Xenopus embryo (Fig. 1E) (Bouwmeester et al., 1996). This induction was not observed when the 5′ UTR cerberus mRNA and the CerMo were coinjected (Fig. 1F), demonstrating that the morpholino can efficien ...
What is p53
What is p53

... the term "p53" appears in the title! This massive interest in a single protein is almost unprecedented and reflects the central place of p53 in the regulation of cell number and the frequency with which abnormalities of p53 occur in human tumours. p53 has been named Molecule of the Year by the edito ...
(HbA) and sickle hemoglobin
(HbA) and sickle hemoglobin

... Many changes in the structure of hemoglobin have arisen by mutations in the human population. About one person in 100 contains a mutant hemoglobin gene and these individuals have an abnormal hemoglobin molecule in their blood. The mutations often involve substitution of one amino acid for another an ...
Lecture 4
Lecture 4

... Maternal Rescue Hide an essential role for a gene in embryonic pattern formation. Pure zygotic screens may miss important functions. ...
Phenotypes to Genotypes Using C. elegans
Phenotypes to Genotypes Using C. elegans

... however, it uses the metazoan C. elegans and genetics. Students will be given a series of unidentified plates containing coded worm strains; known only to the instructor. By examining the phenotypes and other properties of the worms, the students will be instructed to identify the genotypes of each ...
138-142-Smad6 and TGF-b expression in obesity linked cardiac
138-142-Smad6 and TGF-b expression in obesity linked cardiac

... to deposit the excess fat to develop obesity with diabetes, impaired healing ability and hypometabolic effects18. To study the cardiac inability in diverse pathological stages of obesity one group of ob/ob−/− deficient mice was allowed to grow up to three months and sacrificed to study the earlier e ...
ABSTRACT Title of Document:
ABSTRACT Title of Document:

... Importance and history of the ethylene pathway Plants are sessile organisms that must respond quickly to a vast array of external and internal cues such as light, gravity, temperature, pathogen attack, and hormones. The speed and accuracy of response is vital to its development and survival. The com ...
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NEDD9

Neural precursor cell expressed developmentally down-regulated protein 9 (NEDD-9) is a protein that in humans is encoded by the NEDD9 gene. NEDD-9 is also known as enhancer of filamentation 1 (EF1), CRK-associated substrate-related protein (CAS-L), and Cas scaffolding protein family member 2 (CASS2). An important paralog of this gene is BCAR1.
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