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Topic: Heterozygous

Ads by Google      Influence of {beta}0-Thalassemia on the Phenotypic Expression of Heterozygous Familial Hypercholesterolemia : A Study ... Influence of {beta}0-Thalassemia on the Phenotypic Expression of Heterozygous Familial Hypercholesterolemia : A Study of Patients With Familial Hypercholesterolemia From Sardinia -- Deiana et al. http://atvb.ahajournals.org/cgi/reprint/20/1/236   (34 words)      Breast Cancer Research Full text Atmheterozygous deficiency enhances development of mammary carcinomas in ... However, those early studies were limited by the lack of reliable assays with which to identify carriers [8]. A high incidence of thymic lymphoma was observed in previous studies performed using p53 heterozygous deficient F In the present study an extremely high incidence of tumours, most of which were mammary carcinomas and thymic lymphomas, was observed in irradiated p53 http://breast-cancer-research.com/content/7/1/R164   (3681 words)      Effect of Low-Density Lipoprotein Apheresis on Kinetics of Apolipoprotein B in Heterozygous Familial ... subjects (31, 32) and was markedly increased in heterozygous and hyperlipidemic (43) subjects suggests that in heterozygous 1991 Metabolic pathways of apolipoprotein B in heterozygous familial hypercholesterolemia: studies with a http://jcem.endojournals.org/cgi/content/full/86/4/1679   (4443 words)      Skeletal muscle Na currents in mice heterozygous for Six5 deficiency -- MISTRY et al. 6 (3): 153 -- Physiological ... Skeletal muscle Na currents in mice heterozygous for Six5 deficiency -- MISTRY et al. Skeletal muscle Na currents in mice heterozygous for Six5 deficiency and an identical Na channel lesion is present in mice heterozygous http://physiolgenomics.physiology.org/cgi/content/full/6/3/153   (4034 words)      Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver ... heterozygous only and was not present in the recipient intestine. development of HH may be specific to the heterozygous R6S and Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. http://gut.bmjjournals.com/cgi/content/full/52/3/433   (2117 words)      Genetic modifiers of otocephalic phenotypes in Otx2 heterozygous mutant mice -- Hide et al. 129 (18): 4347 -- ... Variation of external craniofacial morphology of Otx2 heterozygous mutant embryos at 18.5 dpc. the Alx4 heterozygous mutant phenotype is subject to strain-specific Mandibles have been separated in cases in which they were present (A-J). http://dev.biologists.org/cgi/content/full/129/18/4347   (6180 words)      Detection of subclinical atherosclerosis by electron beam tomography in females with heterozygous familial ... When should patients with heterozygous familial hypercholesterolemia be treated? Table 2 Clinical and laboratory characteristics of heterozygous familial hypercholesterolaemia (FH) and normal women Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. http://heart.bmjjournals.com/cgi/content/full/90/1/92   (1362 words)      Neonatal Diagnosis of Familial Hypercholesterolemia in Newborns Born to a Parent With a Molecularly Defined ... problems may arise with heterozygous patients in their adolescent in newborn individuals with molecularly defined heterozygous familial Identification and treatment of heterozygous familial hypercholesterolemia in children and adolescents. http://atvb.ahajournals.org/cgi/content/full/17/11/3332   (3730 words)      JAMA -- Abstract: Efficacy and Safety of Lovastatin in Adolescent Males With Heterozygous Familial ... Efficacy and Safety of Lovastatin Therapy in Adolescent Girls With Heterozygous Familial Hypercholesterolemia When Should Patients With Heterozygous Familial Hypercholesterolemia Be Treated? Efficacy and Safety of Pravastatin in Children and Adolescents with Heterozygous Familial Hypercholesterolemia: A Prospective Clinical Follow-Up Study http://jama.ama-assn.org/cgi/content/abstract/281/2/137   (478 words)      Induction of Melanoma in Murine Macrophage Inflammatory Protein 2 Transgenic Mice Heterozygous for Inhibitor of ... Table 2 Genotype analysis of melanomas that arose from transgenic mice Articles by Yang, J. Articles by Richmond, A. Cancer Research of skin melanoma in mice, which were heterozygous for INK4a/ARF+/-. http://cancerres.aacrjournals.org/cgi/content/full/61/22/8150   (5888 words)      Meiotic Exchange and Segregation in Female Mice Heterozygous for Paracentric Inversions -- Koehler et al. 166 (3): 1199 ... pairs were observed; 3/37 heterozygous oocytes analyzed (8%) 1 of the 129 heterozygous oocytes examined in this study, and We therefore studied an additional 469 oocytes from heterozygous http://www.genetics.org/cgi/content/full/166/3/1199   (6496 words)      Interleukin 8 Secretion from Monocytes of Subjects Heterozygous for the {Delta}F508 Cystic Fibrosis Transmembrane ... monocytes from subjects heterozygous as well as homozygous for at lower doses of LPS in monocytes from patients heterozygous Interleukin 8 Secretion from Monocytes of Subjects Heterozygous for the http://cdli.asm.org/cgi/content/abstract/11/5/819   (375 words)      A Novel Mutation in IFN-{gamma} Receptor 2 with Dominant Negative Activity: Biological Consequences of Homozygous and ... Receptor 2 with Dominant Negative Activity: Biological Consequences of Homozygous and Heterozygous States A Novel Mutation in IFN-{gamma} Receptor 2 with Dominant Negative Activity: Biological Consequences of Homozygous and Heterozygous States -- Rosenzweig et al. phenotype in the 791delG heterozygous state was caused by haploinsufficiency http://www.jimmunol.org/cgi/content/abstract/173/6/4000   (311 words)      Modification of Survival Rate of Mouse Embryos Developing in Heterozygous Females for Ovum Mutant Gene -- Zhao et al. ... of C57BL/6Cr strain by successive backcrosses of heterozygous Figure 4 shows changes in the number of normal embryos or live Females with less than 25% survival rate were regarded as DDK type and those with 25% or more as F http://www.biolreprod.org/cgi/content/full/62/4/857   (3639 words)      Grand Forks Human Nutrition Center :: Recent Publications Combs, Jr., G.F. Current evidence and research needs to support a health claim for selenium and cancer prevention. Zeng, H., Saari, J.T. Increased type I collagen content and DNA binding activity of a single-stranded, cytosine-rich sequence in the high-salt buffer protein extract of the copper-deficient rat heart. Hunt, J.R., Zeng, H. Iron absorption by heterozygous carriers of the HFE C282Y mutation associated with hemochromatosis. http://www.gfhnrc.usda.gov/html/publications.html   (701 words)      Specificity of peptide selection by antigen-presenting cells homozygous or heterozygous for expression of class II MHC ... Analyses of naturally processed peptide families isolated from homozygous and heterozygous APC lines Note also that some peptides were found in the double expressing We isolated and identified naturally processed peptides selected by antigen-presenting cells homozygous for expression of http://www.pnas.org/cgi/content/full/100/9/5330   (3645 words)      Direct visualization of renal vascular morphogenesis in Flk1 heterozygous mutant mice -- Robert et al. 275 (1): 164 -- ... However, heterozygous mutants, which expressed LacZ instead of Direct visualization of renal vascular morphogenesis in Flk1 heterozygous mutant mice -- Robert et al. Direct visualization of renal vascular morphogenesis in Flk1 heterozygous mutant mice http://ajprenal.physiology.org/cgi/content/full/275/1/F164   (4327 words)      c-myb Heterozygous Mice Are Hypersensitive to 5-Fluorouracil and Ionizing Radiation -- Ramsay et al. 2 (6): 354 -- ... Institute for Reproduction and Development, Monash Medical Centre, Clayton, Australia; and Copyright © 2004 by the American Association for Cancer Research. c-myb Heterozygous Mice Are Hypersensitive to 5-Fluorouracil and Ionizing Radiation -- Ramsay et al. http://mcr.aacrjournals.org/cgi/content/abstract/2/6/354   (233 words)      High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and {Delta}F508 -- Schibler ... 5.— Cumulative survival of patients heterozygous for 3905insT (•) and patients homozygous for compound heterozygous for 3905insT and 30 patients homozygous No difference (p=ns) between patients heterozygous for 3905insT (•) and patients homozygous for http://erj.ersjournals.com/cgi/content/full/17/6/1181   (2512 words)      Identification of Differentially Expressed Genes in Mouse Pax6 Heterozygous Lenses -- Chauhan et al. 43 (6): 1884 -- ... Our data indicate that the Pax6 heterozygous adult lens expressed expressed in Pax6 heterozygous lenses at reduced levels. expression in Pax6 heterozygous lenses, whereas the expression http://www.iovs.org/cgi/content/full/43/6/1884   (4414 words)      Age-Specific Incidence Rates of Venous Thromboembolism Among Heterozygous Carriers of Factor V Leiden Mutation -- ... Our finding-that the risk for venous thromboembolism among heterozygous Age-Specific Incidence Rates of Venous Thromboembolism Among Heterozygous Carriers of Factor V Leiden Mutation -- Ridker et al. Age-Specific Incidence Rates of Venous Thromboembolism Among Heterozygous Carriers of Factor V Leiden Mutation http://www.annals.org/cgi/content/full/126/7/528   (2594 words)      Hormonal Defect in Maspin Heterozygous Mice Reveals a Role of Progesterone in Pubertal Ductal Development -- Shi et al. ... our analysis of maspin heterozygous (Mp+/–) mice that Hormonal Defect in Maspin Heterozygous Mice Reveals a Role of Progesterone in Pubertal Ductal Development Here, we present evidence that they also play a http://mend.endojournals.org/cgi/content/abstract/18/9/2196   (347 words)      Retention of the p53 Codon 72 Arginine Allele Is Associated with a Reduction of Disease-Free and Overall Survival in ... heterozygous patients affected by common carcinomas, such as of arginine/proline heterozygous patients who have a reduced Retention of the p53 Codon 72 Arginine Allele Is Associated with a Reduction of Disease-Free and Overall Survival in Arginine/Proline Heterozygous Breast Cancer Patients http://clincancerres.aacrjournals.org/cgi/content/full/9/13/4860   (3051 words)      Outcome of case finding among relatives of patients with known heterozygous familial -- Bhatnagar et al. 321 (7275): ... Cost-effectiveness considerations in the treatment of heterozygous familial hypercholesterolemia with medications. Serum lipoprotein (a) in patients heterozygous for familial hypercholesterolaemia, their relatives and unrelated controls. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. http://www.bmj.com/cgi/content/full/321/7275/1497   (3326 words)      Posttranscriptional Compensation for Heterozygous Disruption of the Kidney-Specific NaK2Cl Cotransporter Gene -- ... We conclude that mild quantitative changes in the expression of NKCC2 at the mRNA level, which occur in the heterozygous NKCC2 gene has no direct effect on the physiologic phenotype http://www.jasn.org/cgi/content/full/13/3/604   (4035 words)      Flow Cytometric Assessment of LDL Ligand Function for Detection of Heterozygous Familial Defective Apolipoprotein B-100 ... of LDL-receptor activity in heterozygous FH patients (29)(30), The assay was tested and validated using LDL from patients heterozygous Hereafter, LDL prepared from individuals heterozygous for the Arg http://www.clinchem.org/cgi/content/full/46/2/224   (5339 words)      MedlinePlus Medical Encyclopedia: Genetics Familial hypercholesterolemia (FHC) is a fairly common disorder (1 out of 500 individuals are heterozygous). If one parent is homozygous and the other heterozygous, then each child has a 50% chance of being homozygous. If two parents are each heterozygous for a particular recessive disease gene, then each child has a 25% chance of being homozygous for that gene and therefore, of showing the disease. http://www.nlm.nih.gov/medlineplus/ency/article/002048.htm   (2274 words)      Heterozygote - Wikipedia, the free encyclopedia When an organism is referred to as a heterozygote or as being heterozygous for a specific gene, it means that the organism carries a different version of that gene on each of the two corresponding chromosomes. Heterozygosity refers to the state of being a heterozygote, but in population genetics, it commonly refers to the fraction of individuals in a population that are heterozygous for that locus. If the test is sensitive enough, the heterozygote has the phenotype of both parents: when a person who is homozygous for the A blood type gene marries a person who is homozygous for the B blood type gene, they produce heterozygous children who test positive for both A and B blood type. http://en.wikipedia.org/wiki/Heterozygote   (407 words)      Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of ... Paradoxical heterozygous expression of AP3B1 from homozygous dogs and homozygous expression of AP3B1 from heterozygous dogs. A paradox: homozygous expression from heterozygotes and heterozygous expression from homozygotes Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia http://nar.oupjournals.org/cgi/content/full/32/21/6327   (3740 words)      Compound Heterozygous Mutations in the SRD5A2 Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin -- ... Compound Heterozygous Mutations in the SRD5A2 Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin Compound Heterozygous Mutations in the SRD5A2 Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin -- Fernández-Cancio et al. http://www.andrologyjournal.org/cgi/content/abstract/25/3/412   (262 words)      NEJM -- The Risk of Recurrent Deep Venous Thrombosis among Heterozygous Carriers of Both Factor V Leiden and the ... contrast, patients who were heterozygous for both factor V Leiden Results Patients who were heterozygous for factor V Leiden alone causes of thrombophilia, we compared 112 patients who were heterozygous http://content.nejm.org/cgi/content/abstract/341/11/801   (1791 words)      H It is heterozygous for one or (more often) many pairs of genes. http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/H/H.html   (401 words)      Anesthetic Considerations for a Patient with Compound Heterozygous Medium-Chain Acyl-CoA Dehydrogenase Deficiency -- ... Anesthetic Considerations for a Patient with Compound Heterozygous Medium-Chain Acyl-CoA Dehydrogenase Deficiency Anesthetic Considerations for a Patient with Compound Heterozygous Medium-Chain Acyl-CoA Dehydrogenase Deficiency -- Wang et al. Copyright © 2002 by the International Anesthesia Research Society. http://www.anesthesia-analgesia.org/cgi/content/abstract/94/6/1595   (135 words)      Heterozygous and Homozygous Factor H Deficiencies Associated with Hemolytic Uremic Syndrome or Membranoproliferative ... Heterozygous and Homozygous Factor H Deficiencies Associated with Hemolytic Uremic Syndrome or Membranoproliferative Glomerulonephritis: Report and Genetic Analysis of 16 Cases Heterozygous and Homozygous Factor H Deficiencies Associated with Hemolytic Uremic Syndrome or Membranoproliferative Glomerulonephritis: Report and Genetic Analysis of 16 Cases -- Dragon-Durey et al. http://www.jasn.org/cgi/content/abstract/15/3/787   (614 words)      Importance of HDL cholesterol levels and the total/ HDL cholesterol ratio as a risk factor for coronary heart disease ... Importance of HDL cholesterol levels and the total/ HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozygous familial hypercholesterolaemia -- Real et al. http://eurheartj.oupjournals.org/cgi/reprint/22/6/465   (29 words)      Reduced glucose uptake precedes insulin signaling defects in adipocytes from heterozygous GLUT4 knockout mice -- LI et ... PI3 kinase is involved in mediating insulin-stimulated GLUT4 translocation The expression of GLUT4 protein was assessed by Western blot analysis In each group, experiments were repeated more than 3 times with multiple lanes of samples from different adipocyte lysates at each time. http://www.fasebj.org/cgi/content/full/14/9/1117   (4512 words)      Long term statin treatment reduces lipoprotein(a) concentrations in heterozygous familial hypercholesterolaemia -- van ... Long term statin treatment reduces lipoprotein(a) concentrations in heterozygous familial hypercholesterolaemia Long term statin treatment reduces lipoprotein(a) concentrations in heterozygous familial hypercholesterolaemia -- van Wissen et al. Department of Vascular Medicine, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands http://heart.bmjjournals.com/cgi/content/abstract/89/8/893   (412 words)      Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles -- Wohlgemuth et al. 61 ... Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles -- Wohlgemuth et al. Wohlgemuth, van der Kooi, and Padberg), University Medical Center Nijmegen, The Netherlands; and Center for Human and Clinical Genetics (Drs. http://www.neurology.org/cgi/content/abstract/61/7/909   (285 words)      Promotion of tumorigenesis by heterozygous disruption of the beclin 1 autophagy gene -- Qu et al. 112 (12): 1809 -- ... For studies examining the effects of beclin 1 heterozygous deletion For studies examining the effect of beclin 1 heterozygous deletion Beclin 1 heterozygous deletion decreases autophagy in muscle (a–d), bronchial epithelia (e–h), and germinal center B lymphocytes (i). http://www.jci.org/cgi/content/full/112/12/1809   (7108 words)      The pulmonary circulation of homozygous or heterozygous eNOS-null mice is hyperresponsive to mild hypoxia -- Fagan et ... Western blot analysis of lung homogenates from wild-type (+/+), eNOS (–/–), and eNOS heterozygous (+/–) mice. Therefore, to model this condition, we bred mice that were heterozygous Heterozygous deficiency of hypoxia-inducible factor-2{alpha} protects mice against pulmonary hypertension and right ventricular dysfunction during prolonged hypoxia http://www.jci.org/cgi/content/full/103/2/291   (5900 words)      Botany online: Classic Genetics - A Closer Scrutiny on Mendel's Laws - Sex Determination The reciprocal crossing 3 however results in a segregation, because the male Bryonia alba behave, concerning the sexes, like heterozygous hybrids and produce two different types of gametes. This result can be explained by the assumption that both the female Bryonia diocia and the monoecious Bryonia alba produce only one type of gamete. This means that the male sex of Bryonia alba is heterozygous, while the female is homozygous. http://www.biologie.uni-hamburg.de/b-online/e10/10b.htm   (545 words)      Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus -- ... She is the fifth patient with heterozygous ornithine Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus -- Bogdanovic et al. Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency. http://www.jnnp.com/cgi/content/full/69/6/813   (1567 words)      Heterozygous Lipoprotein Lipase Deficiency : Frequency in the General Population, Effect on Plasma Lipid Levels, and ... Heterozygous Lipoprotein Lipase Deficiency : Frequency in the General Population, Effect on Plasma Lipid Levels, and Risk of Ischemic Heart Disease -- Nordestgaard et al. and risk of ischemic heart disease for heterozygous carriers verified ischemic heart disease (percent frequency of heterozygous http://circ.ahajournals.org/cgi/content/abstract/96/6/1737   (997 words)      ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy -- Fitzgerald et ... Southern blot analyses were done to characterise the dystrophin The authors are deeply indebted to the family described in this manuscript for their continued cooperation and interest. Ganzfeld ERGs were obtained under scotopic and photopic testing conditions from a family which includes the heterozygous maternal http://www.jmedgenet.com/cgi/content/full/36/4/316   (4039 words)      MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy -- Fatemi et al. 60 (8): 1301 -- Neurology heterozygous for X-ALD (mean age 43 years, range 8 to 75 years). female subjects heterozygous for X-ALD, including those who extent of cerebral involvement in female subjects heterozygous http://www.neurology.org/cgi/content/abstract/60/8/1301   (436 words)      Dominant and Recessive Compound Heterozygous Mutations in Epidermolysis Bullosa Simplex Demonstrate the Role of the ... In this study, the mother and brother who were heterozygous for the E418K mutation were clinically normal, however, it was From the Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita 15, Nishi 7, Kita-Ku, Sapporo 060-8638, Japan One is a heterozygous G to A transition at nucleotide position 508, which substitutes a glutamic acid to lysine at residue 170 (E170K) (A). http://www.jbc.org/cgi/content/full/277/26/23670   (4032 words)      Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine ... This base change was present in her father, heterozygous for probable loss of function mutations in HOXA13 Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13 -- Debeer et al. http://jmg.bmjjournals.com/cgi/content/full/39/11/852   (3368 words)      Evidence for meiotic spindle checkpoint from analysis of spermatocytes from Robertsonian-chromosome heterozygous mice ... Evidence for meiotic spindle checkpoint from analysis of spermatocytes from Robertsonian-chromosome heterozygous mice -- Eaker et al. Evidence for meiotic spindle checkpoint from analysis of spermatocytes from Robertsonian-chromosome heterozygous mice Cytological analysis of both young and adult heterozygous http://jcs.biologists.org/cgi/content/abstract/114/16/2953   (298 words)      Monocytes Heterozygous for the Asp299Gly and Thr399Ile Mutations in the Toll-like Receptor 4 Gene Show No Deficit in ... Heterozygous Toll-Like Receptor 2 Polymorphism Does Not Affect Lipoteichoic Acid-Induced Chemokine and Inflammatory Responses The Journal of Experimental Medicine, Volume 197, Number 12, 1787-1791 of three individuals heterozygous for the TLR4 mutations and http://www.jem.org/cgi/content/full/197/12/1787   (3413 words)      Heterozygous Germline ATM Mutations Do Not Contribute to Radiation-Associated Malignancies After Hodgkin's Disease -- ... Heterozygous Germline ATM Mutations Do Not Contribute to Radiation-Associated Malignancies After Hodgkin's Disease -- Nichols et al. http://www.jco.org/cgi/reprint/17/4/1259   (25 words)

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