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Altered Pax gene expression in murine notochord mutants: the
Altered Pax gene expression in murine notochord mutants: the

... Theiler, 1990). The somite also produces a second tissue, the dermomyotome, which will subdivide into dermatome and myotome to form dermis and skeletal muscle. With respect to their position, somite cells have to acquire a dorsolateral identity to become dermomyotome, whereas a ventromedial identity ...
Foxf1 controls mesoderm differentiation
Foxf1 controls mesoderm differentiation

... System (NEN Life Science Products). Nuclei were counterstained with Richardson’s Azur-11-Methylene Blue. BrdU-positive and -negative nuclei were counted in posterior primitive streak mesoderm and neural plate in the same region. Mesodermal nuclei were counted on 14 sections (4725 nuclei in total) de ...
fulltext
fulltext

... prevalences and clinical phenotypes. A specific focus was directed towards two KCNQ1 mutations –p.Y111C and p.R518X- commonly identified in Swedish LQTS index cases. Methods Cases and families with LQTS (p.Y111C or p.R518X) and JLNS were recruited via regional clinical practices, national referrals ...
Goings on in Mendel`s Garden
Goings on in Mendel`s Garden

... Mendel enabled modern genetics to take off rapidly once his results became known, and we rightly credit him for his perceptive insight. The particulate nature of genetic inheritance is now beyond question and has been confirmed in intimate detail at the molecular level across the spectrum of biologi ...
Whole-transcriptome RNAseq analysis from minute amount of total
Whole-transcriptome RNAseq analysis from minute amount of total

... alternative splice isoforms and direct measurement of transcript abundance (3). These technologies are greatly accelerating our understanding of the complexity of gene expression, regulation and pathways for mammalian cells. Currently, HT-sequencing technologies have been used for whole-transcriptom ...
p16INK4a immunocytochemical analysis is an
p16INK4a immunocytochemical analysis is an

... prognostic information distinct from that derived through p16INK4a gene deletion analysis. The lower proportion of high-risk karyotypes such as t(9;22)(q34;q11) in children may explain why p16INK4a ICC has a specific prognostic value in childhood ALL as compared with adult ALL. Of the children with ...
Practice final key
Practice final key

... A benign ovarian teratoma is a mass of differentiated tissues which occasionally develops in the ovary without fertilization. Such a teratoma develops in a patient who is heterozygous Aa for a locus closely linked to the centromere of a chromosome and heterozygous Bb for another locus weakly linked ...
Full Text - The International Journal of Developmental Biology
Full Text - The International Journal of Developmental Biology

... gene Hyal5 very close to PH-20 in the genome (Kim et al., 2005). The role of hyaluronidase in sperm-egg interaction will be concluded when we see the binding ability impaired sperm from Hyal5 knockout or PH-20 and Hyal5 double knockout mice. There are more factors suggested to be involved in sperm– ...
Role of 1-aminocyclopropane-1-carboxylate (ACC) Synthases
Role of 1-aminocyclopropane-1-carboxylate (ACC) Synthases

... (ETR2 clusters with AtETR1 and RhETR3 shows high sequence similarity to AtETR2 and AtERS2) revealed that they are differentially expressed in ‘Vanilla’ and ‘Bronze’. RhETR2 is constitutively expressed throughout flower development in both cultivars, whereas RhETR3 expression increased in senescing f ...
Detecting Marker-Disease Association by Testing for Hardy
Detecting Marker-Disease Association by Testing for Hardy

... gene, which was later confirmed (Hästbacka et al. 1994). Although the identification of disease-susceptibility loci for complex traits has been slow, several fine-mapping methods have been employed. Identification of IDDM2 (the insulin gene) was accomplished by use of linkage disequilibrium (Bennet ...
molecular genetics of tibial muscular dystrophy (tmd) and - E
molecular genetics of tibial muscular dystrophy (tmd) and - E

... Distal myopathies are hereditary disorders that cause progressive distal muscle weakness and atrophy without clinically significant involvement of proximal muscles at the early stages of the disease. Serum CK activity ranges from normal or slightly elevated levels up to 150 times the upper normal li ...
The EGF-CFC Protein One-Eyed Pinhead Is Essential for
The EGF-CFC Protein One-Eyed Pinhead Is Essential for

... to double mutants for sqt and cyc, two zebrafish nodalrelated genes (Figure 1F). Mutant embryos display severe defects not seen in Zoep mutants, including lack of the notochord, pronephros, and blood. A variable number of somites that form in the tail region are the only nonectodermal structures det ...
The obstruction of adaptation in diploids by recessive deleterious
The obstruction of adaptation in diploids by recessive deleterious

... mutation to be completely recessive (hb ≈ 1, hd ≈ 0). We emphasize that our model and analytic predictions can be extended to cases of partial dominance (i.e., hd ≠ 0, hb ≠ 1), as long as the effect of the beneficial mutation in the heterozygote is stronger than that of the deleterious mutation (hb ...
Xq28 duplications
Xq28 duplications

... Your geneticist or genetic counsellor will tell you about the point(s) where your child’s chromosome has broken and the extra genetic material has been added. The information you are given will depend on the method used to test your child’s chromosomes. If the duplicated piece of DNA was identified ...
3.1.molecular_evolution - T
3.1.molecular_evolution - T

... (or “clocklike”) and because selection does not influence the rate of divergence, divergence of DNA and protein molecules in two separate lineages should occur in a REGULAR, clocklike manner ...
What is p53
What is p53

... oncogenic forms of human papillomavirus (HPV E6). In cells, p53 can associate with a 90-kD protein, identified as the product of the mdm-2 oncogene, which is amplified in some types of tumors. When bound to mdm-2, p53 can no longer function as an activator of transcription. p53 plays multiple roles ...
“The only UNG useful in RT-PCR”
“The only UNG useful in RT-PCR”

... A prerequisite for using UNG in RT-PCR contamination control, is that the enzyme is sufficiently heat-labile to quickly inactivate at the temperatures used for reverse transcription. The easily heat-inactivated Cod UNG makes it possible to use contamination control also in RT-PCR, being able to remo ...
Real time PCR and it`s role in diagnosis
Real time PCR and it`s role in diagnosis

... The main task in The Forensic Medicine is to investigate deaths from unnatural causes. Forensic science has embraced the use of DNA molecular biology tools for diagnostic purposes more than any other scientific field. The process of routine forensic human identification involves sensitive PCR and ca ...
Genotype C of hepatitis B virus can be classified into at least two
Genotype C of hepatitis B virus can be classified into at least two

... southern end of Japan) and two from China. Two databasederived isolates found in Australian Aborigines and New Caledonia formed an outgroup of the genotype. Phylogenetic analysis based on full genomic sequences of 10 HBV isolates from Vietnam (3), Myanmar (3), Thailand (2) and Okinawa (2) also confi ...
PDF
PDF

... upstream of the Ci-Hox1 transcriptional start site (Fig. 2A). To test whether the insertion disrupts function of the Ci-Hox1 promoter and generates a loss-of-function allele, we generated homozygous animals by crossing two heterozygous EJ[MiTSAdTPOG]124 animals (Fig. 2B-D). The homozygous animals sh ...
Ampicillin versus Tetracycline in the Selection
Ampicillin versus Tetracycline in the Selection

... collected by centrifugation at 10,000 rpm (in IEC 819 rotor), and suspended in lysozyme breakage buffer. The cell suspension was then treated with sodium dodecyl sulphate (2% SDS) and sodium hydroxide (0.4 M NaOH). Acidified salt buffer was used to precipitate chromosomal DNA. After centrifugation a ...
Chapter 2
Chapter 2

... Molecular markers, tightly linked to disease resistance genes, can provide breeders with a tool for marker-assisted selection of resistance gene in plants (Stuber, 1992, Michelmore et al.., 1995). Among the 25 major gene loci for powdery mildew resistance in wheat, restriction fragment length polymo ...
Haplotypes at LBX1 Have Distinct Inheritance Patterns with
Haplotypes at LBX1 Have Distinct Inheritance Patterns with

... adolescence with 1,287 ethnically matched females who had normal spinal curves by skeletal maturity. The genomic region around LBX1 was imputed and haplotypes investigated for genetic signals under different inheritance models. The strongest signal was identified upstream of LBX1 (rs11190878, Ptrend ...
1 - Test Bank Corp
1 - Test Bank Corp

... As of 2004, Human Genome Project researchers had mapped the genome to a point of being 99% completed, and the number of gaps in the human genome had decreased from ___ to ___. A) 25,000, 20,000 B) 150,000, 25,000 C) 25,000, 341 D) 150,000, 341 Ans: d ...
Facts about Charcot-Marie-Tooth Disease
Facts about Charcot-Marie-Tooth Disease

... Delayed responses are a sign of demyelination and small responses are a sign of axonopathy. Thus, NCV is often used to distinguish between CMT1 and CMT2. Other procedures sometimes used to diagnose CMT include electromyography (EMG), which measures the electrical signals in muscles, and less commonl ...
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Site-specific recombinase technology



Nearly every human gene has a counterpart in the mouse (regardless of the fact that a minor set of orthologues had to follow species specific selection routes). This made the mouse the major model for elucidating the ways in which our genetic material encodes information. In the late 1980s gene targeting in murine embryonic stem (ES-)cells enabled the transmission of mutations into the mouse germ line and emerged as a novel option to study the genetic basis of regulatory networks as they exist in the genome. Still, classical gene targeting proved to be limited in several ways as gene functions became irreversibly destroyed by the marker gene that had to be introduced for selecting recombinant ES cells. These early steps led to animals in which the mutation was present in all cells of the body from the beginning leading to complex phenotypes and/or early lethality. There was a clear need for methods to restrict these mutations to specific points in development and specific cell types. This dream became reality when groups in the USA were able to introduce bacteriophage and yeast-derived site-specific recombination (SSR-) systems into mammalian cells as well as into the mouse
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