Two different KIT mutations may lead to different responses to
... and CD34 was strongly positive. KIT mutation analysis with Sanger direct sequencing revealed exon 11 deletion/ insertion involving codons 557 and 558 (Fig. 1D). After testing, the patient was started an imatinib treatment at a dose of 400 mg/day. One month after imatinib treatment, he complained of ...
... and CD34 was strongly positive. KIT mutation analysis with Sanger direct sequencing revealed exon 11 deletion/ insertion involving codons 557 and 558 (Fig. 1D). After testing, the patient was started an imatinib treatment at a dose of 400 mg/day. One month after imatinib treatment, he complained of ...
Chapter 3
... Patella and Ilyanassa, the vertebrates mouse (mus), zebrafish (Danio1 and 2), Xenopus and Silurana, the cephalochordate Branchiostoma, the protostomes leech (Helobdella), Drosophila (D. melanogaster and virilis) and Caenorhabditis and the cnidarian Podocoryne. Also included is the Dermo1 protein of ...
... Patella and Ilyanassa, the vertebrates mouse (mus), zebrafish (Danio1 and 2), Xenopus and Silurana, the cephalochordate Branchiostoma, the protostomes leech (Helobdella), Drosophila (D. melanogaster and virilis) and Caenorhabditis and the cnidarian Podocoryne. Also included is the Dermo1 protein of ...
Chromatin: A sticky silence
... primary sequences may facilitate or promote heterochromatinization in conjunction with the critical threshold of silencing factors. It has consistently been observed that multiple insertion of a gene, as well as long-range pairing, correlates with improved repression [17]. On a molecular level, we i ...
... primary sequences may facilitate or promote heterochromatinization in conjunction with the critical threshold of silencing factors. It has consistently been observed that multiple insertion of a gene, as well as long-range pairing, correlates with improved repression [17]. On a molecular level, we i ...
Identification and Functional Analysis of Mutations in the Hepatocyte
... (range, 13.1–22.8 kg/m2), respectively. They were all clinically diagnosed as having type 1 diabetes according to WHO criteria and required insulin therapy from the time of diagnosis (13). Two and 5 patients had at least 1 family member with type 1 and type 2 diabetes, respectively. Seventy-one perc ...
... (range, 13.1–22.8 kg/m2), respectively. They were all clinically diagnosed as having type 1 diabetes according to WHO criteria and required insulin therapy from the time of diagnosis (13). Two and 5 patients had at least 1 family member with type 1 and type 2 diabetes, respectively. Seventy-one perc ...
Spectral domain optical coherence tomography imaging of
... retained spectacles, and direct drainage of subspectacular fluid or exudate.9–11 Despite the clinical significance of the spectacle, its relationship with the overlying cuticle, and underlying SSS and cornea, its intrinsic involvement in the process of ecdysis, and the fact that histologic changes d ...
... retained spectacles, and direct drainage of subspectacular fluid or exudate.9–11 Despite the clinical significance of the spectacle, its relationship with the overlying cuticle, and underlying SSS and cornea, its intrinsic involvement in the process of ecdysis, and the fact that histologic changes d ...
vital genes that flank sex-lethal, an x-linked sex
... Assignment of mutations to complementation groups: The pattern of complementation of new mutations with the three deficiencies shown in Figure 2 allowed us to determine which were in the 6E1-7B1 subregion of interest, and to which side of Sxl these mapped. Complementation tests of 6E1-731 lethals we ...
... Assignment of mutations to complementation groups: The pattern of complementation of new mutations with the three deficiencies shown in Figure 2 allowed us to determine which were in the 6E1-7B1 subregion of interest, and to which side of Sxl these mapped. Complementation tests of 6E1-731 lethals we ...
It`s All In The Genes - American Maine
... absence of all or part of the tibia (tibial = the bone between the knee and ankle in humans or the stifle and hock in cattle and hemimelia = absence of all or part of a limb). But TH encompasses more defects than the name implies. TH is lethal, as the calf may be born dead, but if not dead the condi ...
... absence of all or part of the tibia (tibial = the bone between the knee and ankle in humans or the stifle and hock in cattle and hemimelia = absence of all or part of a limb). But TH encompasses more defects than the name implies. TH is lethal, as the calf may be born dead, but if not dead the condi ...
Characterization of the Human Gene for a Newly Discovered
... corresponding regions of the human CA I, CA II, and CA III proteins, respectively. This region of the carbonic anhydrases is precisely encoded by exon 6 of all other characterized vertebrate CA genes (Tashian et al., 1990; Hewett-Emmett and Tashian, 1991). Additional potential coding material, which ...
... corresponding regions of the human CA I, CA II, and CA III proteins, respectively. This region of the carbonic anhydrases is precisely encoded by exon 6 of all other characterized vertebrate CA genes (Tashian et al., 1990; Hewett-Emmett and Tashian, 1991). Additional potential coding material, which ...
Chromosomes, Chromosome Anomalies
... unbalanced constitutional anomalies have 1 or 3 copies of a whole set of genes, and abnormal development results. Note: a full balanced complement is not absolutely necessary for the functioning of many differentiated tissue cells, particularly if they are not called upon to divide. Nevertheless, re ...
... unbalanced constitutional anomalies have 1 or 3 copies of a whole set of genes, and abnormal development results. Note: a full balanced complement is not absolutely necessary for the functioning of many differentiated tissue cells, particularly if they are not called upon to divide. Nevertheless, re ...
Multiple Testing Corrections
... across different conditions. When testing for potential differential expression across those conditions, each gene is considered independently from one another. In other words, a t-test or ANOVA is performed on each gene separately. The incidence of false positives (or genes falsely called different ...
... across different conditions. When testing for potential differential expression across those conditions, each gene is considered independently from one another. In other words, a t-test or ANOVA is performed on each gene separately. The incidence of false positives (or genes falsely called different ...
1 - Miss Jan`s Science Wikispace
... Draw diagrams to illustrate substitution, insertion, deletion and addition as gene mutations Describe the effects of substitution, insertion, deletion and addition gene mutations Explain what chromosomal mutations are Explain the difference between chromosomal block and number mutations Dr ...
... Draw diagrams to illustrate substitution, insertion, deletion and addition as gene mutations Describe the effects of substitution, insertion, deletion and addition gene mutations Explain what chromosomal mutations are Explain the difference between chromosomal block and number mutations Dr ...
The Gene Ontology
... • Language used in biological research is not well controlled – This is hampered further by the wide variations in terminology that may be common usage at any given time, which inhibit effective searching by both computers and people. Adopted from http://www.geneontology.org/ ...
... • Language used in biological research is not well controlled – This is hampered further by the wide variations in terminology that may be common usage at any given time, which inhibit effective searching by both computers and people. Adopted from http://www.geneontology.org/ ...
TEXT Definition Chromosomal alterations are variations from the
... Round, broad head, simian palm, narrow, high palatte, low IQ. Mental retardation, multiple congenital defects of all organs; death within ...
... Round, broad head, simian palm, narrow, high palatte, low IQ. Mental retardation, multiple congenital defects of all organs; death within ...
a new mutant gene causing multiple abnormalities in the mouse
... column by the 18th day of gestation. The column then becomes S-shaped by a flexure appearing in the cervical region. This is even more pronounced at birth. In the extra-toes homozygote, however, the C-shape is retained and even accentuated. There is often a parietal brain hernia and ectopia of the v ...
... column by the 18th day of gestation. The column then becomes S-shaped by a flexure appearing in the cervical region. This is even more pronounced at birth. In the extra-toes homozygote, however, the C-shape is retained and even accentuated. There is often a parietal brain hernia and ectopia of the v ...
Recent advances in the molecular genetics of congenital
... association of AAD and the DR4-DQB1*0302 haplotype was due to the presence of concurrent type 1 diabetes and/or antibody evidence of pancreatic b-cell autoimmunity (which are associated with DR4 carrying haplotypes). However, a recent study showed a signi®cant increase in the frequency of transmissi ...
... association of AAD and the DR4-DQB1*0302 haplotype was due to the presence of concurrent type 1 diabetes and/or antibody evidence of pancreatic b-cell autoimmunity (which are associated with DR4 carrying haplotypes). However, a recent study showed a signi®cant increase in the frequency of transmissi ...
Transduction
... There is no meiosis in bacteria so special techniques have been worked out for manipulating genes in bacteria so that mapping experiments, strain construction, and complementation tests can be done. First, we need a way of getting chromosomal DNA from one cell into another. There are several ways to ...
... There is no meiosis in bacteria so special techniques have been worked out for manipulating genes in bacteria so that mapping experiments, strain construction, and complementation tests can be done. First, we need a way of getting chromosomal DNA from one cell into another. There are several ways to ...
The Effect of Chromosomal Position on the Expression of the
... studies of position effect, lines containing single transposon inserts had to be prepared from the initial population of transformants obtained. Since rosy gene expression is affected by several unlinked genes (see Finnerty, 1976) it was necessary to maintain a uniform genetic background in all the ...
... studies of position effect, lines containing single transposon inserts had to be prepared from the initial population of transformants obtained. Since rosy gene expression is affected by several unlinked genes (see Finnerty, 1976) it was necessary to maintain a uniform genetic background in all the ...
Sickle Cell Anemia Answer Key - Illuminations
... Sickle cell disease: a genetic disease Sickle trait: a genotype with one sickle and one normal gene. People with sickle trait are immune to malaria. Normal: a genotype that does not have any potential for passing on a sickle gene Allele: a gene from one parent. One gene from each parent combined mak ...
... Sickle cell disease: a genetic disease Sickle trait: a genotype with one sickle and one normal gene. People with sickle trait are immune to malaria. Normal: a genotype that does not have any potential for passing on a sickle gene Allele: a gene from one parent. One gene from each parent combined mak ...
Genetic Optimization of Electric Machines, a State of the Art Study.
... Using a simple GA (SGA), users will experience optima being lost It is also hard to predict which optima is being chosen at each optimization run The losses are due to three effects: – selection pressure – selection noise – operator disruption ...
... Using a simple GA (SGA), users will experience optima being lost It is also hard to predict which optima is being chosen at each optimization run The losses are due to three effects: – selection pressure – selection noise – operator disruption ...
Cytogenetic genotype-phenotype studies: Improving genotyping
... WHSC1 as a good candidate gene for WHS. A second candidate gene (WHSC2) was identified one year later (Wright et al., 1999). The location of both candidate genes is depicted in Fig. 2. In 2000 an Italian group reported the cytogenetic, molecular, and clinical findings in 16 WHS patients (Zollino et ...
... WHSC1 as a good candidate gene for WHS. A second candidate gene (WHSC2) was identified one year later (Wright et al., 1999). The location of both candidate genes is depicted in Fig. 2. In 2000 an Italian group reported the cytogenetic, molecular, and clinical findings in 16 WHS patients (Zollino et ...
Saethre–Chotzen syndrome
Saethre–Chotzen syndrome (SCS), also known as Acrocephalosyndactyly type III is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor birth defects of the hands and feet (syndactyly). In addition, individuals with more severe cases of SCS may have mild to moderate mental retardation or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.