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Homozygous in Medical News

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

... from a Phase 3 study evaluating mipomersen in homozygous Familial Hypercholesterolemia (FH) patients and ... from our Phase 3 study evaluating mipomersen in homozygous Familial Hypercholesterolemia patients. We ... is planning an initial European submission for homozygous Familial Hypercholesterolemia (FH) with timing ...

Isis Reports Strong Financial Results and Highlights for Fiscal Year 2008

... from a Phase 3 study evaluating mipomersen in homozygous Familial Hypercholesterolemia (FH) patients and ... 3 study evaluating mipomersen in patients with homozygous FH. Also we and our partners expect to report ... enrollment in a Phase 3 mipomersen study in homozygous FH subjects. Initiating four additional ...

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

... There are three predominant genotypes of TS: (1) homozygous with two tandem repeats (2R/2R); (2) homozygous with three tandem repeats (3R/3R); (3) ... (n = 22) and 3R/3R (n = 40). Patients who were homozygous for triple-repeated (3R/3R) sequences showed ...

The onchocerciasis parasite showing signs of resistance

... the percentage of parasites showing a genotype homozygous for this gene fell from 79 to 31% in subjects ... inferred that the parasites showing a genotype homozygous for β-tubulin are more susceptible to it. As ... there were more microfilariae in the uterus of homozygous female parasites than in those of heterozygous ...

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

... pain in a patient on therapy with lovastatin. homozygous Familial Hypercholesterolemia MEVACOR is less effective in patients with the rare homozygous familial hypercholesterolemia, possibly because ... (see ADVERSE REACTIONS) in these homozygous patients. Information for Patients Patients ...

IDO2 an active enzyme to target in pancreatic cancer

... to have an active IDO2 enzyme. Nineteen percent of the patients were homozygous wild-type, meaning they had two active alleles, and 42 percent of the ... meaning they had one active allele. Twenty-five percent were homozygous for two inactive IDO2 alleles. The remaining 14 percent were difficult to ...

Scientists identify new congenital neutropenia syndrome and causative gene mutation

... the other is not) in the neutrophil elastase (ELA2) gene. In 2007, Klein's lab identified another causative mutation in a subgroup of SCN patients: homozygous mutations (where the defect is present in both copies of the gene) in the HAX1 gene. To conduct the current study, the researchers focused on five ...

ADHD Gene Doesn't Predict Response to Drugs

... "What we found is that the children who have two copies of the Val isoform had an even harder time orienting their goals than children who are homozygous for Met [that is, have two copies of the Met isoform] or even Val/Met," he said. Each person two copies of the COMT gene, one from each parent. ...

Isis Reports Financial Results and Highlights for First Quarter of 2008

... Phase 3 program in patients with high cholesterol at high risk for cardiovascular disease including an ongoing Phase 3 study in patients with homozygous Familial Hypercholesterolemia (FH). o Isis reported updated safety data on mipomersen from an ongoing open-label extension study in ...

FDA Provides Clarity to Isis Regarding the Development Path for Mipomersen

... has indicated that reduction of LDL-cholesterol is an acceptable surrogate endpoint for accelerated approval of mipomersen for use in patients with homozygous familial hypercholesterolemia (hoFH). The FDA will require data from two ongoing preclinical studies for carcinogenicity to be included in the hoFH ...

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Homozygous in Medical Technology

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

... from a Phase 3 study evaluating mipomersen in homozygous Familial Hypercholesterolemia (FH) patients; ... the largest, placebo-controlled Phase 3 study in homozygous FH patients. We reported that the study met its ... file the first NDA for mipomersen in the U.S. for homozygous FH in the second half of 2010, with a similar ...

Genzyme and Isis Complete Licensing of Mipomersen

... be completed in a pivotal study of mipomersen in homozygous familial hypercholesterolemia, and a new trial in ... as follows: -- Total milestones related to homozygous FH $50 million -- Total ... to the mipomersen development program. Like homozygous FH patients, apheresis- eligible patients are ...

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

... disease-free control Caucasian women were either homozygous (12%) or heterozygous (52%) for H64 and the remaining 36% were homozygous for P64. In contrast, 30% of the disease-free ... carried at least one H64 allele, of which 5% were homozygous and 25% were heterozygous and the remaining 70% ...

Tufts Medical Center Researchers Create a New Predictive Model for Age-related Macular Degeneration (AMD)

... AMD has a strong genetic component, healthy behaviors can modify your genetic susceptibility. For example, among individuals with one genotype, the homozygous C3 risk genotype, the likelihood of progression to the advanced form of AMD increased from about three-fold for nonsmokers to nearly 10-fold for ...

Aegerion Pharmaceuticals, Inc. adds Peter Garrambone to Board of Directors, Secures Additional Capital for Clinical Trials

... to explore the efficacy, safety and tolerability of AEGR 733, Aegerion's lead compound. A Phase III study of AEGR 733 in the orphan population of homozygous familial hypercholesterolemic patients is currently underway. In addition, Aegerion announced the transition of Jerry Wisler, Co- Founder, CEO and ...

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

... 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 estimated to affect approximately one in a million people. Children with hoFH are at high risk for early coronary ...

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

... the most severely affected patients may need apheresis, an expensive and time-consuming procedure that removes the "bad" cholesterol from the blood. 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 ...

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

... * homozygous FH patients already being treated with ... 2 clinical trial of ISIS 301012 in patients with homozygous familial hypercholesterolemia (HoFH), presented ... Achieving an LDL-C less than 100 mg/dL in a homozygous FH patient, other than for a few days ...

Study Presented at ACC Shows Treatment With ISIS 301012 Added to Statins for Only 5 Weeks Results in 75% of Patients Achieving LDL-C Levels Less Than 100 mg/dL and 50% of Patients Achieving LDL-C Levels of Less Than 70 mg/dL

... in this study, as well as in homozygous familial hypercholesterolemic patients on maximal ... to maximal lipid lowering therapies in homozygous familial hypercholesterolemia (FH) patients were ... granted orphan drug status for the treatment of homozygous FH and Isis plans to begin registration-directed ...
Homozygous in Medical Products

Coatest APC Resistance V Kit

Description:... 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 between ...
Company:DiaPharma Group, Inc.
Homozygous in Medical Dictionary

Cystic fibrosis

... Cystic fibrosis (CF) is an example of an autosomal recessive disorder. A CF child has the CF gene on both chromosome 7's and so is said to be homozygous for CF. Cystic fibrosis , an inherited disease that results in the production of thick mucus in the lungs . Bronchiectasis , a lung ...

Dorsal

... This approach permits the patient to walk soon after surgery because the stitches are not on the weight-bearing side of the foot. Embryos homozygous for the Rho1 mutation exhibit severe defects in head involution and imperfect dorsal closure. After a person recovers from chickenpox , VZV ...

Familial Hypercholesterolemia

... dysbetalipoproteinemia (Fredrickson type III) who do not respond adequately to diet ; reduction of total and LDL cholesterol in patients with homozygous familial hypercholesterolemia as an ... familial hypercholesterolemia familial hyperlipoproteinemia familial hypertriglyceridemia familial ...

Hemoglobin

... circumstances the disease occurs only in those patients who inherit the gene for the abnormal hemoglobin from both parents. This so-called homozygous form of the disease occurs in 1 in 400 African Americans. Carbon monoxide causes problems at very low concentrations because of a peculiar ...
Homozygous in Biological News

Fitness in a changing world

... at least one copy of the Eda complete version of the gene (heterozygous or homozygous for the Eda complete allele). The fish lack the full complement of plates if they are homozygous for the recessive gene--Eda low. From the laboratory mapping results, and ...

February 2009 highlights from Biology of Reproduction

... in a paper on p. 235 of this issue, Sun et al. characterize the phenotype of mice genetically lacking FAAH, fatty acid amide hydrolase. Male mice homozygous for the Faah knockout have elevated levels of anandamide, an endocannabinoid, in the reproductive system, and their sperm have decreased ability to ...

DNA repair patterns may predict risk of pancreatic cancer

... or endogenous agents such as reactive oxygen species, there is an increased chance of getting cancer. Researchers found that the presence of a homozygous mutant genotype of LIG3 G-39A was associated with a 77 percent reduction in the risk of pancreatic cancer. By contrast, the presence of the gene ATM ...

Should embryos with a hereditary disorder be transferred if no unaffected embryos are available?

... a single gene mutation for which there are no, or limited, treatments, and, in most cases, presenting early in life. An example is an embryo that is homozygous for cystic fibrosis, where the child will definitely have the disease. In such cases it is inconceivable that doctors would agree to transfer these ...

July 2008 highlights

... expressed primarily in testis, but its functional significance had been only speculative. In an article on p. 26 Odet et al. report that male mice homozygous for a targeted disruption of Ldhc are severely impaired in fertility, whereas females are fertile. The fertility defects include impaired sperm ...

New method developed to identify genetic determinants of Alzheimer's disease

... (DHPLC) analysis, which was performed under partially denaturing conditions as determined by profiling the mixture of a tested sample and a homozygous standard control amplicon at the given ratio. In almost 300 samples detected, the accuracy of the assay reached 100%. Dr. Tian-Ming Gao, Head of ...

JCI table of contents: Aug. 16, 2007

... tumoral calcinosis and gives clinicians a new candidate gene to consider when attempting to determine the etiology of tumoral calcinosis. TITLE: A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis AUTHOR CONTACT: Michael J. Econs Indiana University School of Medicine, ...

Statin treatment improves spatial memory in mouse models of Alzheimer's

... nNos levels may play an important role in statin-induced improvement of spatial reference memory. The transgenic mice used in the study are homozygous for the gene for beta amyloid protein, making it inevitable that they develop an Alzheimer’s like disease as they age. In fact, they lose their ...

Novel technology detects human DNA mutations

... is mutated (i.e., has SNPs). Nanosphere's technology 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 ...
Homozygous in Biological Technology

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 ... is inherited from only one parent so that some function is preserved. The homozygous form is a very rare condition estimated to affect approximately one in a ...

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

... 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 sequencing were shown by Surveyor Nuclease to be heterozygous." ADPKD occurs at a rate of 1/1000 in the US population, ...

Discovery of a new retinal gene involved in childhood blindness

... significant stretches of homozygosity in SNP markers. SNPs are single nucleotide repeats, which are natural variations in the human genome. These homozygous regions may contain new genes and are carefully probed based on functional information and then subjected to sequencing. "This method is indeed both ...

Isis Reports Financial Results and Highlights for Third Quarter of 2008

... mipomersen study in heterozygous FH subjects with coronary artery disease -- Completed enrollment of the pivotal Phase 3 mipomersen study in homozygous FH subjects -- Granted broad patent coverage for the therapeutic use of antisense compounds targeting apolipoprotein B, U.S. Patent No. ...

BioTime, Inc. and Embryome Sciences, Inc. Sign Agreement With International Stem Cell Corporation to Provide Unique Human Stem Cell Lines for Research Use

... in the creation of pluripotent human stem cell lines from unfertilized human eggs. ISCO scientists also have created the first Parthenogenetic homozygous stem cell line (phSC-Hhom-4) that can be a source of therapeutic cells that will not be immune rejected after transplantation into millions of ...

Genzyme Reports Strong First-Quarter Growth

... a well-defined and severely ill patient population. Mipomersen is currently being studied in a Phase 3 clinical trial involving patients with homozygous familial hypercholesterolemia. This press release contains forward-looking statements regarding Genzyme's financial outlook and business plans ...

Denaturing HPLC (DHPLC)

... by trial or error. Here injections of the homozygous sample at temperatures from 52 to 67 °C are ... for successful PCR amplification by running the homozygous sample under non denaturing conditions , ie less ... different peak pattern than that seen for the homozygous sample, increase or decrease the column ...

The Gradient Feature: Use in Optimization of Allelic Discrimination Assays, Rev B

... genomic DNA from a factor V Leiden homozygous mutant individual, or distilled water ... WT PCR products (red plot) but not to the homozygous mutant DNA (blue plot). Similarly, the ... , the mutant TaqMan ASO probe hybridized only to homozygous mutant PCR products (pink plot) but ...

Rapid SNP Genotyping of the Pharmacogenomically Important Allele CYP2D6*4 Using Real-Time qPCR on the DNA Engine Opticon 2 System

... was able to identify several individuals homozygous for the variant A allele who would be ... contained a FAM label at the 5 end. DNA that is homozygous for the wild-type G nucleotide will be ... only a VIC signal. DNA that is homozygous for the variant A nucleotide will be ...

Genotyping Single Nucleotide Polymorphisms with Molecular Beacons

... negative. Two individuals (A/A homozygous on SNP11 shown as black closed ... the other hand, two individuals (G/G homozygous on SNP11 shown as black open diamonds) had no ... dramatically different from the complementary homozygous targets A/A of 29 Ct with probe A or G/G of 28 ...

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Homozygous in Biological Definition

Homozygote

... . When an organism is referred to as being homozygous for a specific gene, it means that it carries ... (e.g. the genotype is AA or aa ). A homozygous dominant genotype occurs when a particular locus ... alleles for the dominant trait (e.g. AA ). A homozygous recessive genotype occurs when a particular ...

Molecular evolution

... to determine for a finite population what proportion of loci would be homozygous . This was, in part, motivated by assertions by other geneticists that ... genotypes would be cancelled out by continual generation of less fit homozygous genotypes. These results became important in the formation of the ...

Polymerase chain reaction

... on an agarose gel, and the band pattern will tell you if the individual is homozygous T, homozygous C, or heterzygous T/C. This methodology has several applications, such as ...

Allele

... and thus contain two copies of each gene. An organism in which both copies of the gene are identical - that is, have the same allele - is said to be homozygous for that gene. An organism which has two different alleles of the gene is said to be heterozygous . Often one allele is "dominant" and the other is ...

Allele frequency

... 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 the allele). So all together 36% of diploid individuals would be expected to carry an allele that has a frequency of 20%. ...

Evolution

... through a number of mechanisms, including: Overdominance or heterozygote advantage , where the heterozygote is more fit than either of the homozygous forms (famously exemplified by human sickle cell anemia conferring resistance to malaria ) Frequency-dependent selection , where the rare ...

Locus

... sequence) on a chromosome . A locus can 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 ...

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Homozygous in Biological Dictionary

Homozygous

... If both genes are the same, the organism is homozygous for the trait. If both genes are different, the ... and if ... An explanation about the homozygous blood test for the tobiano gene in horses and the black red test ... can produce true breeding ( homozygous ) tobiano horses. ... ...

Heterozygous

... 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 ... from Biology-Online.org dictionary. ... is it the heterozygous or homozygous that protects , many ... The other parents and their unaffected son ...

Alleles

... alleles are expressed in the phenotype when the genotype is homozygous ... The alleles are IA, IB, and i, so the possible ... as hair ... If the alleles are the same, the organism is said to be homozygous for that trait. ... For most characters, there are two kinds of ...

True-breeding

... traits. In a true breeding strain crosses of two individuals from the same strain (or of ... Calling them true - breeding bays or even homozygous blacks can be confusing ... " True Breeding Bays" aka Non-Chestnut Carriers. Linamix, Wekiva Springs ... ... also result in true - breeding ...

Sterile cell

... cells from a ... Find products and compare prices at TheFind.com. Shop online for thousands of great items like the Tissue Culture Dishes. In homozygous sterile plants, pollen mother cells abort prior to completing meiosis (Figs. ... cells varied significantly between fertile and sterile ...

Recessive gene

... have two copies of each gene in their genome, one inherited from ... recessive gene n. A gene that is phenotypically expressed in the homozygous state but has its expression masked in the presence of a dominant Open source encyclopedia supplement on Recessive gene ... two alleles ...

Pseudorevertant

... ... was examined in two APRT pseudorevertant cell lines, their two APRT homozygous ... growth medium of the pseudorevertant lines induced adenine salvage to ... The SUX1 pseudorevertant strain was found to carry a single ...

Monohybrid cross

... or other sort of genetic cross . ... Monohybrid crosses . 1. In dogs, wire hair (S) is dominant to smooth (s). In a cross of a homozygous wire-haired dog with a smooth-haired dog, what will ... Turn speakers on ... Monohybrid . Drag genes from the left side of the table into ... ...

Mating type

... kind for mating to occur ... Like normal h90 strains, mat2-102 can mate with strains of either mating type . ... This strain will be homozygous for the mating type and thus unable to sporulate. ... Heterologous expression of mating - type genes in filamentous fungi. ... Mating ...

Incomplete dominance

... from Academic Journals, Newspapers, and magazines at HighBeam.com. Free Trial, Credit Card Required. Incomplete Dominance : • Blending of the homozygous phenotypes. ... Incomplete Dominance . • The alleles for curly hair and straight ... incomplete dominance A type of inheritance in ...

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