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Heterozygous in Medical News

Findings in Epilepsy Gene in Animals May Guide Treatment Directions for Infants

...port for this study. Marsh et al, "Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females," Brain , published online May 12, 2009. About The Children's Hospital of Philadelphia: The Children's Hospital of Philadelphia was foun...

Isis Reports Strong Financial Results and Highlights for First Quarter of 2009

...l should be available at the time of this submission and may be basis for a broader indication. A potential second filing in Europe for patients with heterozygous FH could take place as early as late 2012. Genzyme will await data from an outcomes study prior to making additional submissions to potentially expan...

Isis Reports Strong Financial Results and Highlights for Fiscal Year 2008

...ipomersen studies in high-risk patients, including three Phase 3 studies in heterozygous FH subjects, high-risk hypercholesterolemia and severe hypercholesterolemia... including mipomersen data from a Phase 2 mipomersen liver imaging study in heterozygous FH subjects and long-term dosing data in FH patients exposed to mipomersen ...

Scientists identify new congenital neutropenia syndrome and causative gene mutation

...ng the genetic defects that cause SCN, but in many patients, the underlying genetic cause remains unknown. The most common cause of inherited SCN is a heterozygous mutation (where one copy of the gene is mutated and the other is not) in the neutrophil elastase (ELA2) gene. In 2007, Klein's lab identified another ...

Memory Pharmaceuticals Announces Six Abstracts Accepted for Presentation at Society for Neuroscience Meeting

...0A as a potential PET-tracer using LC-MS/MS" Poster Session 885 Wednesday, November 19, 2008 1:00 p.m. - 5:00 p.m. EST -- "Camk2(alpha) heterozygous knock-out mice: a model of bipolar disorder-related mania" Poster Session 157 Sunday, November 16, 2008 8:00 a.m. - 12:00 p.m. EST -- "...

Alcohol consumption and polymorphisms of cytochromes P4502E1 are high risks for ESCC

...f the esophagus. A review of case-control studies of the effects of ALDH2 and ADH2 genotypes shows consistently positive associations between inactive heterozygous ALDH2 and the risk for esophageal cancer in East Asian heavy drinkers. Only the ALDH2 genotype has been demonstrated to have a critical role in the de...

What are simple ways to judge the efficacy of 5-fluorouracil in colonic neoplasm?

...ndem repeats (2R/2R); (2) homozygous with three tandem repeats (3R/3R); (3) heterozygous with both alleles (2R/3R). It was reported that TS genes with the triple re... than patients who were homozygous for double-repeated (2R/2R) sequences or heterozygous patients (2R/3R), but no statistical significance of IRS in cancer tissues ...

The onchocerciasis parasite showing signs of resistance

...th ivermectin. At the same time, the proportion of heterozygous genotypes changed in the opposite sense, rising fr...ly disappear, to the benefit of the more resistant heterozygous strains. Ivermectins effect on microfilariae, othe...us of homozygous female parasites than in those of heterozygous females. This could mean that, in the latter, the ...

GlaxoSmithKline Obtains Exclusive U.S. OTC Marketing Rights to MEVACOR(R) (lovastatin) from Merck & Co., Inc.

...highly effective in reducing total-C and LDL- C in heterozygous familial and non-familial forms of primary hyperch...s Efficacy of Lovastatin in Adolescent Boys with heterozygous Familial Hypercholesterolemia In a double-blind,...2 boys 10-17 years of age (mean age 12.7 yrs) with heterozygous familial hypercholesterolemia (heFH) were randomiz...

Isis Reports That ISIS 301012 is Well Tolerated in Patients Treated for Five Or More Months

...lts from a placebo-controlled Phase 2 study of ISIS 301012 in patients with heterozygous FH that were presented in a poster session today at the Drugs Affecting Lip...lood. Homozygous FH is rare, affecting about one in one million people, but heterozygous FH is much more common with a prevalence of approximately one in every 500 ...
Heterozygous in Medical Technology

Colesevelam HCl Lowered LDL Cholesterol in Pediatric Patients With Heterozygous Familial Hypercholesterolemia

First Presentation of Pivotal Study Data in Pediatric Patients Presented at the American Heart Association's Annual Scientific Sessions 2008 PARSIPPANY, N.J., Nov. 11 /PRNewswire-FirstCall/ -- Daiichi Sankyo, Inc. (DSI), announced today that results from the pivotal study supporting the use ...

Isis Reports Positive Results of Phase 2 Study of ISIS 301012 in Heterozygous FH Patients

- HeFH Patients on Maximally Tolerated Lipid-Lowering Therapies Experienced 46% Further Reductions in LDL-C when Treated with 300 mg/week ISIS 301012 for 13 Weeks - Study Presented in Poster Session Today at DALM Symposium in New York ...

Isis Reports Strong Financial Results and Highlights for Second Quarter of 2009

... will involve a broader patient population, namely heterozygous FH patients. This strategy ensures that mipomerse... indication to larger patient populations, such as heterozygous FH patients. We have now completed enrollment in the mipomersen Phase 3 study in heterozygous FH patients, the second of our four Phase 3 studie...

Genzyme and Isis Begin Second Phase 3 Trial Of Mipomersen

.... (Nasdaq: GENZ ) and Isis Pharmaceuticals, Inc. (Nasdaq: ISIS ) today announced that they have begun a phase 3 study of mipomersen in patients with heterozygous familial hypercholesterolemia (heFH), a genetic disorder that causes exceptionally high levels of LDL cholesterol. It is the first of four new trials ...

Genzyme and Isis Complete Licensing of Mipomersen

...nts. -- Consolidation of the planned filings for heterozygous FH patients and other high-risk, high cholesterol ...$75 million milestone for European approval of the heterozygous FH indication remains the same. All other financ... $50 million -- Total milestones related to heterozygous FH $150 million -$75 million for U...

Karmanos Researchers Study the Impact of Galectin-3 on Breast Cancer Disparity in Caucasian and Asian Women

...of the disease-free control Caucasian women were either homozygous (12%) or heterozygous (52%) for H64 and the remaining 36% were homozygous for P64. In contrast, 3...n carried at least one H64 allele, of which 5% were homozygous and 25% were heterozygous and the remaining 70% were homozygous for P64. The analysis distributio...

Update From Mipomersen Extended Dosing Study Continues to Show That Mipomersen Is Well Tolerated and Maintains Activity in Patients Treated for Up to 16 Months

...eases (CVD) and CVD-related death. FH can be present in two forms: homozygous (hoFH), where the same defective gene is inherited from both parents, or heterozygous (heFH), where the defective gene is inherited from only one parent so that some function is preserved. The homozygous form is a very rare condition es...

ReachMD Broadcasts First-of-its-Kind Physician Peer-Peer Discussion on ENHANCE Trial

...tatin vs. Simvastatin Alone on the Atherosclerotic Process in Patients with heterozygous Familial Hypercholesterolemia) Trial. Two of the nation's leading experts i...ersus the highest approved dose of simvastatin 80 mg alone in patients with heterozygous Familial Hypercholesterolemia (HeFH). The study was made public by Merck/Sc...

Zetia Does Not Reduce Carotid Plaque Size When Added to Zocor

...roup headed by Dr. John J.P. Kastelein of the University of Amsterdam Medical Center. All 720 participants suffered from an unusual condition known as heterozygous familial hypercholesterolemia. Vytorin cut "LDL levels by 58 percent, compared to a 41 percent reduction with simvastatin alone. However, the research...

Isis Pharmaceuticals Reports Positive Phase 2 Data for ISIS 301012 in Familial Hypercholesterolemia Patients Presented at ACC

... the future, as will data from the ongoing double-blind, placebo-controlled heterozygous FH study. Table 1: ISIS 301012 in HoFH, Summary of Results Li...lood. Homozygous FH is rare, affecting about one in one million people, but heterozygous FH is much more common with a prevalence of approximately one in every 500 ...
Heterozygous in Medical Products

Coatest APC Resistance V Kit

Description:...tion is obtained by prediluting the sample plasma with an excess of V-DEF Plasma bioreagent. The test design makes it possible to discriminate between heterozygous and homozygous factor V genotypes. It also allows for analysis of plasma from patients on heparin or oral anticoagulant therapy. High discrimination b...
Company:DiaPharma Group, Inc.
Heterozygous in Medical Dictionary

Antithrombin III

...ntithrombin III is the primary physiologic inhibitor of in vivo coagulation. ... Antithrombin III activity is markedly potentiated by ... heterozygous antithrombin III deficiency results in venous thrombosis, most ... Overview: Antithrombin III (ATIII) is currently referred to as ant...
Heterozygous in Biological News

Mouse model provides clues to human language development

...es in Leipzig supported and confirmed the findings. In a second step to further substantiate this hypothesis, the Helmholtz scientists analyzed the heterozygous knockout mouse model in which one of the normally two copies of the Foxp2 gene is missing. This loss leads to serious changes: The ability of the mice...

New findings in taste and smell

...Evidence for a chemosignal in human tears β1,3-N-Acetylglucosaminyltransferase 1 (β3GnT1) regulates signaling in olfactory neurons CNGA2 heterozygous mice with a knockout TRPM5 show fewer glomeruli targeted by OSNs with nonfunctional CNGA2 Copy-number variation map obtained by high-resolution geno...

The mouflons of the Kerguelen archipelago

...he population becomes impoverished and its evolutionary potential decreases. Furthermore, consanguinity is known to produce genetic diseases. The most heterozygous individuals are better able to resist these diseases,” explains Renaud Kaeuffer. The researchers stress the point that the genetic variety of the mouf...

History of human cannibalism eats away at researchers

...ransmitted by cannibalism at ritualistic mortuary feasts. A high-profile study published nearly three years ago suggested that individuals who were heterozygous for a common polymorphism in the PRNP gene were relatively resistant to the disease. Over time, homozygotes who participated in the cannibalistic r...

Evolutionary conservation of a mechanism of longevity from worms to mammals

... Because these findings would predict that reduced expression of the mclk1 gene would result in longevity, the authors compared the lifespan of mice heterozygous for mclk1 with their wild-type counterparts. A predicted, mclk1+/- mice displayed a substantial increase in lifespan in three different genetic backg...

Novel technology detects human DNA mutations

...nology can rapidly, easily, and accurately interrogate both bases in the pair to determine if they are homozygous (i.e., both are mutant or normal) or heterozygous (i.e., one is mutant, one is normal) ?the most critical step in correlating the SNP with a disease or drug sensitivity. To do so, Nanosphere scientist...
Heterozygous in Biological Technology

Polycystic Kidney Disease Assay at Cornell University Uses Transgenomic's Surveyor Nuclease & WAVE Technology

...fessor of Pathology and Laboratory Medicine at Weill Cornell Medical College. "Moreover, the Surveyor assay is highly sensitive, enabling it to detect heterozygous changes not readily detected by sequencing. Indeed we were even able to establish that some samples incorrectly scored as homozygous mutations by DNA...

Isis Reports Financial Results and Highlights for Third Quarter of 2008

...eport top line data on mipomersen from a Phase 2 liver imaging study in heterozygous Familial Hypercholesterolemia (FH) patients -- Provide an update on mipome...all. Cardiovascular Program -- Initiated a Phase 3 mipomersen study in heterozygous FH subjects with coronary artery disease -- Completed enrollment of th...

Isis Reports Financial Results and Highlights for Second Quarter of 2008

...nitiate three trials in addition to the Phase 3 study in patients with heterozygous Familial Hypercholesterolemia (FH) announced this week, studying mipom...isk factors for cardiovascular disease -- Initiated Phase 3 study in heterozygous FH subjects with coronary artery disease -- Granted broad patent cov...

JCI online early table of contents: March 6, 2008

...hat might be useful for the development of large animals models of other human genetic diseases. TITLE: Production of CFTR-null and CFTR-delta-F508 heterozygous pigs by adeno-associated virusmediated gene targeting and somatic cell nuclear transfer AUTHOR CONTACT: Michael J. Welsh University of Iowa Carve...

Genzyme and Isis Announce Strategic Alliance Including Exclusive Worldwide License of Mipomersen

... death. Familial hypercholesterolemia can be present in two forms: homozygous (hoFH), where the same defective gene is inherited from both parents, or heterozygous (heFH), where the defective gene is inherited from only one parent so that some function is preserved. The homozygous form is a very rare condition es...

Denaturing HPLC (DHPLC)

...tions have been optimised then a single peak will be seen. Run the heterozygous sample at the optimum DHPLC temperature. More than one peak should be seen. If the heterozygous sample does not give a significantly different peak pattern than that seen...

Protein Truncation Tests Using the DCode System

... Sample 10 showed the presence of two protein products, one of normal length and a second of smaller size, suggesting this patient to be heterozygous for a mutation in this region. Sequence analysis identified a nonsense mutation at 5971 nt substituting a G to T (5971G>T[c1990]...

Heteroduplex Analysis Using the DCode System

...duplexes are generated during PCR* of a heterozygous individual or by adding mutant and wild-type DNA ... cystic fibrosis gene exons 7 and 10. The heterozygous mutations from exon 7 were 1154insTC, t... (-TTC). The mutations from exon 10 were a heterozygous ΔF508, three base deletion (-CTT),...

Detection of Mutations in the CYP21 Gene Using the DCode System

...GE analysis was carried out using a denaturing gradient of 3070%. To validate the method, one wild type control sequence and one heterozygous mutant sequence was analyzed for each exon. For exons 2 and 5 the mutant controls were generated by site-directed mutagenesis at...

Real-Time PCR/Melt-Curve Analysis: SNP Detection With FRET, Rev A

...be binding to target, giving a T m of 61.5C (Figure 3). The 1:1 heterozygous mixture produced 2 distinct peaks with T m of 61.5C and 67.5C (...uce the Cy5-labeled strand in excess. The wild-type, mutant, and heterozygous alleles were then detected with a single-labeled FAM probe that ...
Heterozygous in Biological Definition

Allele

...ene. An organism which has two different alleles of the gene is said to be heterozygous . Often one allele is "dominant" and the other is "recessive" - the "domina... blossom color, if the "red" allele is dominant to the "white" allele, in a heterozygous flower (with one red and one white allele), the petals will be red. The rec...

Allele frequency

...y this allele may be up to two in five. If the allele distributes randomly , then the binomial theorem will apply: 32% of the population will be heterozygous for the allele (i.e. carry one copy of that allele and one copy of another in each somatic cell) and 4% will be homozygous (carrying two copies of ...

Heterozygote

... chromosomes . When an organism is referred to as a heterozygote, or being heterozygous for a specific gene , it means that the organism carries two different ve...opulation genetics to the fraction of individuals in a population that are heterozygous for that locus. The effect of heterozygosity depends on the protein produ...

Locus

...n be occupied by any of the alleles of the gene. Diploid or polyploid cells are either homozygous (have the same allele at a locus) or heterozygous (have different alleles at a locus). In mathematics , a locus is the set of points satisfying a particular condition. It is mostly used when ...

Molecular evolution

...by other geneticists that more than 50 percent of Drosophila loci were heterozygous , a claim they initially doubted. In order to answer this question they as... number of alleles, the selective advantage of presence of those alleles in heterozygous genotypes would be cancelled out by continual generation of less fit homozy...
Heterozygous in Biological Dictionary

Heterozygous

Zygosity refers to the similarity of genes for a trait in an organism. If both genes are the same, the organism is homozygous for the trait. If both genes are different, the organism is heterozygous for that trait. If one gene is missing, it is hemizygous, and if both... (Redirected fr...

Monohybrid cross

...Monohybrid . Drag genes from the left side of the table into ... Cross a heterozygous tall plant with a second heterozygous tall plant. ( T = tall, t = dwarf ) ... ... term monohybrid cross . ...

Incomplete dominance

...hromosome. Typical plants and animals have two sets of chromosomes, one set inherited from each parent, and are... incomplete dominance n. A heterozygous condition in which both alleles at a gene locus are partially expressed, often producing an intermediate In other words, Mendel was unaware ...

Homozygous

...es for a trait in an organism. If both genes are the same, the organism is homozygous for the trait. If both genes are different, the organism is heterozygous for that trait. If one gene is missing, it is hemizygous, and if both... An explanation about the homozygous blood test for the tobiano gene ...

Heterozygote

...erozygote advantage A heterozygote advantage ( heterozygous advantage ) describes the case in which the hete...man is referred to as a heterozygote , or being heterozygous for a specific ... Zoology information, histor...del of Heterozygote Advantage at Major ... In a heterozygous organism, or heterozygote , the genes for a spec...

Hemizygous

...s homozygous for the trait. If both genes are different, the organism is heterozygous for that trait. If one gene is missing, it is hemizygous , and if both....man. ... X-linked G6PD deficiency protects hemizygous males but not heterozygous females ... similar to or greater than hemizygous males with populations...

Gametes

...y be identical in form (isogamy), as in the black mold (Rhizopus), or ... The formation of gametes . 1. ... What gametes would be produced by a heterozygous individual? ... What will be the gametes produced by a homozygous black pacer? ... Information about Gametes in the free online English dict...

Dihybrid cross

...yy rryy parents result in F1 offspring that are heterozygous for both R & Y. ... (Column 4), use 9:3:3:... Crosses . Trait. Dominant Allele ... Cross a heterozygous running, heterozygous black mouse with a ... Dihybrid ... ...

Contiguous gene syndrome

...ouse ... with MDS being a contiguous - gene syndrome , in which deletion of physically ... A contiguous gene syndrome associated with a heterozygous microdeletion in the c... for Biotechnology Information Genes and disease - Williams syndrome ... ...

Codominance

...hich two different alleles for ... codominance is the term used for a gene that has 2 or more dominant alleles. ... When the individual is heterozygous for 2 dominant alleles, the phenotype is a ... Codominance is when neither of the two forms of a trait are dominant over another. ... Th...
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