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Induction of XIST expression from the human active
Induction of XIST expression from the human active

... The XIST gene is the only gene known to be expressed exclusively from the inactive X chromosome (8) and is localised to the smallest interval of the X chromosome required in cis for inactivation to occur (9,10). The XIST RNA, which is not translated, remains in the nucleus where it is associated wit ...
Document
Document

... making X-linked gene expression equal in females (with two X chromosomes) and in males (with one X chromosome) In mammals: only one X chromosome is active in each cell ...
Stanford Profiles: /viewBiosketch - CAP Network
Stanford Profiles: /viewBiosketch - CAP Network

... Clinical Pharmacogenetics Implementation Consortium (CPIC). My area of professional expertise extends over clinical and research pharmacogenomics, the study of how variation in human genetics impacts drug response phenotypes. The PharmGKB resource is the premier repository of curated information abo ...
Sorting Out the Genome
Sorting Out the Genome

... the five genes are sorted with four reversals. It’s not hard to see that any n-element array can be sorted by the same method in at most n–1 reversals. The procedure is similar to the bottomup pancake algorithm, but because we don’t have to work only from one end of the chromosome, each gene can be ...
Contextual Genetic Algorithms: Evolving Developmental Rules
Contextual Genetic Algorithms: Evolving Developmental Rules

... language expressing as full a range of meanings through arbitrary signifiers as any other language." [26, p. 70] In other words, the same genotype will not always produce the same phenotype; rather, many phenotypes can be produced by one genotype depending on changes in the environmental context. If ...
BIOLOGY (Theory) 57/2 SECTION – A 1. Name the two gases
BIOLOGY (Theory) 57/2 SECTION – A 1. Name the two gases

... 7. State one reason why breast-feeding the baby acts as a natural contraceptive for the mother. Ans. Breast-feeding prevents ovulation during lactation/absence of menstruation ...
Transcription in Eukaryotes
Transcription in Eukaryotes

... Chapter 11: ...
mRNA Expression Analysis
mRNA Expression Analysis

... transcripts by sequencing short tags rather than entire transcripts. The Illumina Tag Profiling protocol identifies mRNA transcripts by their unique, positionally known 20- or 21-base pair cDNA tag. These tags are compared to a species’ reference genome to identify the genes expressed. Tag Profiling ...
Current Second Tier and Future Applications of Gene Sequencing in
Current Second Tier and Future Applications of Gene Sequencing in

... c.235G>A (p.A79T); c.246C>G (p.H82Q); c.755G>A (p.D223N); c.965T>A (p.V322E); • 3 Black infants are p.A79T / p.A79T [MAF=2.8%; Blacks only] • 2 Black infants are p.A79T / p.V322E [MAF<1% Blacks & Eur. Am.] • 1 Black infant is p.A79T / p.D223N [MAF <1%; Blacks only] • p.H82Q (MAF<1% in both European ...
transcription factor
transcription factor

... Chapter 11: ...
(CH11) Transcription In Eukaryotes (Slides)
(CH11) Transcription In Eukaryotes (Slides)

... Helix-turn-helix (HTH) • The first DNA-binding domain to be well ...
Identifying and Controlling Defective Genes.
Identifying and Controlling Defective Genes.

... ancestor for a genetic disorder in a breed occurs within a few generations, then the gene(s) controlling the disorder may not be widespread in the population. The problem may only concern a few kindreds, and strict breeder control should be exercised to keep it from spreading. If the closest common ...
Biology Chapter 11: Homework Hmwrk 11
Biology Chapter 11: Homework Hmwrk 11

... 2. Who was Gregor Mendel and what did he study? 3. What is a trait? List all of the traits that Mendel looked at. 4. Define genes and alleles. 5. Draw out your family tree starting with your grandparents. Label the P generation, the F1 generation and the F2 generation. Hmwrk 11-2 1. Define probabili ...
Ascorbate peroxidaserelated (APxR) is a new
Ascorbate peroxidaserelated (APxR) is a new

... characterized a new class of putative heme peroxidases, called ascorbate peroxidase-related (APx-R), which arose specifically in the lineage of plants. • The APx-R protein is structurally related to the ascorbate peroxidases, although the active site contains many conserved substitutions. Unlike all ...
Rearrangements in the Human T-Cell-Receptor Â
Rearrangements in the Human T-Cell-Receptor Â

... Particularly close association of HTLV-I infection with leukemogenesis of ATL has often been reported by a number of serological and epidemiológica! studies (1,2). However, lack of oncogenes in the HTLV-I genome (3) and the occurrence of disease in a very small proportion (0.01-0.02%) of HTLV-Iinfe ...
Genetic Diversity of Rhizobium leguminosarum as Revealed
Genetic Diversity of Rhizobium leguminosarum as Revealed

... isolates from lower delta locations (Cairo, Quesna and Al-Dakahlia) formed one group in addition to isolate from Beni Suef which is about 224 kilometer (Km) from Al-Dakahlia. On the other hand, the grouping pattern of the remaining isolates was rather puzzling. Isolates from Zefta and South Sinai fo ...
The Jumping SHOX Gene—Crossover in the Pseudoautosomal
The Jumping SHOX Gene—Crossover in the Pseudoautosomal

... The phenomenon of transfer of a mutated or deleted SHOX gene from one sex chromosome to the other occasionally led to minimal comment in some reports (16, 17) but has never been described in a high percentage within the same family as in the families that we report here. A recombination event result ...
key
key

... (a) (2 pts) If we have an animal which is heterozygous for the two chromosomes shown, and a homogolous (normal) crossover happens in the segment between the E and F loci, what will the two recombinant daughter chromosomes look like? Be sure to show whether each locus has the capital or small allele, ...
Blue eye color in humans may be caused by a perfectly associated
Blue eye color in humans may be caused by a perfectly associated

... of mice have been shown to aVect eye and coat color pigmentation as well as sperm production leading to male sterility (Lehman et al. 1998; Russel et al. 1995). In humans, partial deletions of the OCA2-HERC2 locus are known in the Prader-Willi and Angelman syndromes. Both syn- ...
Solid Tumour Section Soft Tissue Tumors: Low grade fibromyxoid sarcoma
Solid Tumour Section Soft Tissue Tumors: Low grade fibromyxoid sarcoma

Extracellular matrix gene expression in the developing
Extracellular matrix gene expression in the developing

... pattern consists of a major increase in matrix protein expression at embryonic day 14 followed by a steady rise through the first 7 to 14 days after birth. This is followed by a decrease in expression over 2 to 3 months to low levels that persist in the adult (Fig. 1). Most of the structural matrix ...
The factor - Classic Families
The factor - Classic Families

... amino acids discussed above, imagine their ...
Lecture3_HomologyAndAlignment2014_10sept
Lecture3_HomologyAndAlignment2014_10sept

... Alignment – residue to residue correspondence between 2 or more sequences such that the order of residues in each sequence is preserved. agtggtcttgctacattgctagctaaatcgatcatgatcgatgattcagg tagctaaatcgatcatgatcgatgattcaggcgatgtcatgactgatcag tacattgctagctaaatcgatcatgatcgatgattcaggcgatgtcatga gatcatgatc ...
A Blueprint for Change
A Blueprint for Change

... impact on potential acute medical illness by optimizing treatment development, changing healthcare to be highly individualized and pre-emptive. The true value of genomic medicine rests in understanding and incorporating genomic information, both clinical and research outcomes, into the patient’s hea ...
PDF - Molecular Vision
PDF - Molecular Vision

... membrane. Peripheral iridocorneal adhesions and elevated intraocular pressure are also observed [16,17]. The characteristic histological features demonstrate the transformation of the endothelial cell phenotype to an epithelial-like cell with desmosomes, stratification, layering, and microvilli [18] ...
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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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