Citations with the tag: MUTATION (Biology)

Results 251 - 300

  • P53 mutation, expression, and DNA ploidy in evolving gliomas: Evidence for two pathways of...
    van Meyel, Donald J.; Ramsay, David A. // JNCI: Journal of the National Cancer Institute; 7/6/94, Vol. 86 Issue 13, p1011 

    Analyzes 15 low-grade astrocytic gliomas that progressed to higher-grade gliomas, examining the status of the tumor suppressor gene p53 in both the initial and recurrent tumors. Clinical features; p53 mutations; p53 immunochemistry; DNA flow cytometry.

  • MEFV gene mutations in Iranian patients with familial mediterranean fever (FMF).
    Zali, Mohammad Reza; Moghaddam, Seyed Javad Mirhassani; Taghizadeh, Farnaz; Noroozi, Nastaran; Narimani, Akram; Peyman, Sarvin; Derakhshan, Faramarz // American Journal of Gastroenterology; Sep2003 Supplement, Vol. 98, pS72 

    An abstract of the article "MEFV Gene Mutations in Iranian Patients With Familial Mediterranean Fever (FMF)," by Mohammad Reza Zali, Seyed Javad Mirhassani Moghaddam, Farnaz Taghizadeh, Nastaran Noroozi, Akram Narimani, Sarvin Peyman, and Faramarz Derakhshan is presented.

  • Sensory systems: The smell of anxiety.
    Yates, Darran // Nature Reviews Neuroscience; Jul2012, Vol. 13 Issue 7, p448 

    The article discusses research on mutation-induced functional deficits in the main olfactory epithelium (MOE) which references the study "Olfactory deficits cause anxiety-like behaviors in mice," by M. E. Glinka and colleagues.

  • HFE Gene Mutations in Cryptogenic Cirrhosis Patients.
    Sendi, Hossein; Mehrab-Mohseni, Marjan; Geramizadeh, Bita // Hepatitis Monthly; 2012, Vol. 12 Issue 1, p48 

    A letter to the editor is presented in response to the article "HFE Gene Mutations (C282Y and H63D) in a Group of Iranian Patients With Cryptogenic Cirrhosis," by Z. Jowkar, B. Germazideh, and M. Shariat in the November 2011 issue.

  • Fade To White.
    Geiger, Beth // Current Science; 1/6/2006, Vol. 91 Issue 9, p6 

    This article focuses on mutation in a lizard community in New Mexico desert.

  • Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype.
    Korge, Bernhard P.; Hamm, Henning; Jury, Catherine S.; Traupe, Heiko; Irvine, Alan D.; Healy, Eugene; Birch-Machin, Mark; Rees, Jonathan L.; Messenger, Andrew G.; Holmes, Susan C.; Parry, David A. D.; Munro, Colin S. // Journal of Investigative Dermatology; Oct99, Vol. 113 Issue 4, p607 

    Monilethrix is an hereditary hair dystrophy recently shown to be due to mutations in the helix termination motif of two type II (basic) human hair keratin genes, hHb1 and hHb6. It has been suggested that mutation in hHb1 produces a less severe phenotype. We have studied hair keratin genes and...

  • Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis.
    Whittock, Neil V.; Ashton, Gabrielle H. S.; Mohammedi, Rafik; Mellerio, Jemima E.; Mathew, Christopher G.; Abbs, Stephen J.; Eady, Robin A. J.; McGrath, John A. // Journal of Investigative Dermatology; Oct99, Vol. 113 Issue 4, p673 

    Mutations in the type VII collagen gene, COL7A1, give rise to the blistering skin disease, dystrophic epidermolysis bullosa. We have developed two new mutation detection strategies for the screening of COL7A1 mutations in patients with dystrophic epidermolysis bullosa and compared them with an...

  • Atrichia with Papular Lesions Resulting from a Nonsense Mutation Within the Human Hairless Gene.
    Sprecher, Eli; Lestringant, Gilles G.; Szargel, Raymonde; Bergman, Reuven; Labay, Valentina; Frossard, Philippe M.; Friedman-Birnbaum, Rachel; Cohen, Nadine // Journal of Investigative Dermatology; Oct99, Vol. 113 Issue 4, p687 

    Atrichia with papular lesions is a rare autosomal recessive form of alopecia characterized by hair loss soon after birth and the development during childhood of a diffuse papular rash. We have previously shown that this disorder results from a deleterious mutation in the human hairless gene, a...

  • Genomic technology: Recombination maps get personal.
    Burgess, Darren J. // Nature Reviews Genetics; Sep2012, Vol. 13 Issue 9, p597 

    The article discusses research which used a single-cell augmentation approach for the generation on recombination maps, which references the study "Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm," by J. Wang and colleagues in the 2012 issue.

  • The Effect of HFE Genotypes on Measurements of Iron Overload in Patients Attending a Health Appraisal Clinic.
    Beutler, Ernest; Felitti, Vincent; Gelbart, Terri; Ho, Ngoc // Annals of Internal Medicine; 9/5/2000, Vol. 133 Issue 5, p329 

    Background: The gene that causes most cases of hereditary hemochromatosis is designated HFE. Three mutations exist at this locus at a relatively high gene frequency. Objective: To determine the gene frequency of the three HFE mutations and to relate genotypes to various clinical and laboratory...

  • idiovariation.
    Beutler, Ernest; Felitti, Vincent; Gelbart, Terri; Ho, Ngoc // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p1149 

    A definition of the term "idiovariation," which refers to a mutation that occurs without known cause, is presented.

  • intermediate allele.
    Beutler, Ernest; Felitti, Vincent; Gelbart, Terri; Ho, Ngoc // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p1215 

    A definition of the term "intermediate allele," which refers to premutation, is presented.

  • phenocopy.
    Beutler, Ernest; Felitti, Vincent; Gelbart, Terri; Ho, Ngoc // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p1770 

    A definition of the term "phenocopy," which refers to an individual with a biochemical or physical characteristic resembling something that is produced by a genetic mutation, is presented.

  • revertant.
    Beutler, Ernest; Felitti, Vincent; Gelbart, Terri; Ho, Ngoc // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p2030 

    A definition of the term "revertant" which refers to an organism that has reverted to a prior phenotype by means of mutation is presented.

  • selection pressure.
    Beutler, Ernest; Felitti, Vincent; Gelbart, Terri; Ho, Ngoc // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p2095 

    A definition of the term "selection pressure," which refers to any change in the environment that encourages particular mutations to succeed, is presented.

  • sport.
    Beutler, Ernest; Felitti, Vincent; Gelbart, Terri; Ho, Ngoc // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p2185 

    A synonym for the medical term "sport," which refers to mutation, is presented.

  • Antibodies: Cow traps are structurally unique.
    Bordon, Yvonne // Nature Reviews Immunology; Jul2013, Vol. 13 Issue 7, p471 

    The article reports on a study which shows that bovine antibodies are generated through the V,D, and J gene segments and uses the recombination events and mutational mechanisms to promote the conversion of D residues in the CDR3 region to cysteine residues.

  • Metabolism: Immature disruption.
    McCarthy, Nicola // Nature Reviews Cancer; Oct2012, Vol. 12 Issue 10, p659 

    The article discusses research on D-2-hydroxyglutarate generation due to the neomorphic mutation of isocitrate dehydrogenase 1 (IDH1), which references the study "D-2-hydroxyglutarate produced by mutant IDH1 perturbs collagen maturation and basement membrane function," by M. Sasaki and colleagues.

  • Mutant genes fall to enzyme hunter.
    Coghlan, Andy // New Scientist; 2/11/95, Vol. 145 Issue 1964, p22 

    Reports on the techniques for locating gene mutations using enzymes called resolvases which cut DNA only at the site of the defect. Derivation of the enzymes from bacteriophages; Screening of cancers linked to genetic defects; Gene therapies for the treatment of cancer.

  • Techno news.
    Coghlan, Andy // Forest Products Journal; Oct98, Vol. 48 Issue 10, p5 

    Presents news briefs on trees. Details on the mutation of a pine tree; Reason for trees to tolerate salinity; How color uniformity affects the look and value of hardwood edge-glued panels.

  • Somatic mutation favors the evolution of diploidy.
    Orr, H. Allen // Genetics; Mar95, Vol. 133 Issue 3, p1441 

    Consider the possibility that diploidy may provide protection against somatic, not inherited, mutations. Fitness model for somatic mutations; Asexual species; Somatic mutation in sexuals.

  • Genetic instability at the agouti locus of the mouse (Mus musculus). I. Increased reverse mutation.
    Sandulache, Rodica; Neuhauser-Klaus, Angelika // Genetics; Aug94, Vol. 137 Issue 4, p1079 

    Compiles the reverse mutation rate data to the white bellied agouti (Aw) allele in heterozygous A/a mice. Comparison with the reverse mutation rate in homozygous a/a mice; Estimation of the mutant rates to the Aw allele; Genetic confirmation of the Aw mutations; Molecular analysis of the...

  • The maternal nudel protein of Drosophila has two distinct roles important for embryogenesis.
    Hong, Charles C.; Hashimoto, Carl // Genetics; Aug96, Vol. 143 Issue 4, p1653 

    Describes phenotypic and molecular analyses of nudel mutations in the Drosophila embryo. Importance of nudel protein for embryonic dorsoventral polarity and structural integrity of the egg; Functional modularity of the nudel protein; Importance of protein-protein interactions for nudel protein...

  • Muller's ratchet, epistasis and mutation effects.
    Butcher, David // Genetics; Sep95, Vol. 141 Issue 1, p431 

    Shows that despite synergistic epistasis for fitness, Muller's ratchet can lead to lethal fitness loss in a population of asexuals through the accumulations of deleterious mutations. Use of computer simulation; Extinction of a population explained under the multiplicative model of mutation...

  • P-Element Insertion at the polyhomeotic Gene Leads to Formation of a Novel Chimeric Protein That...
    Belenkaya, Tatiana; Soldatov, Alexey // Genetics; Oct98, Vol. 150 Issue 2, p687 

    Reports on a study which described the mutation of the P-element of the polyhomeotic (ph) gene. Formation of repressive complexes by the Polycomb group genes; Composition of the PH protein; Methodology used to conduct the study; Results of the study.

  • LUSH Odorant-Binding Protein Mediates Chemosensory Responses to Alcohols in Drosophila melanogaster.
    Kim, Min-Su; Repp, Allen // Genetics; Oct98, Vol. 150 Issue 2, p711 

    Looks at a study which identified an additional mutant of the Drosophila, using an enhancer trapping approach. Detection of odorants by insects with chemosensory hairs; Projection of the antennal olfactory neurons of the Drosophila; Results of the study.

  • Identification of DNA segments capable of rescuing a non-Mendelian mutant in paramecium.
    Kim, Chung Sook; Preer, John R. // Genetics; Apr94, Vol. 136 Issue 4, p1325 

    Identifies DNA segments capable of rescuing a non-Mendelian mutant in Paramecium. Failure of processing at autogamy and conjugation due to the absence of A genes in the macronulei of non-Mendelian mutant d48 of Paramecium tetraurelia; Ability to rescue due to the insertion of the A gene in the...

  • A UV-induced mutation in Neurospora that affects...
    Freitag, Michael; Dighde, Nelima // Genetics; Jan96, Vol. 142 Issue 1, p117 

    States that carbamoyl phosphate is a key intermediate in the biosynthesis of arginine (Arg), pyrimidine nucleotides and urea. Plasmids; Genetic analyses; Hygromycin B phosphotransferase activity; Isolation and phenotypic analyses of mutants.

  • Statistical approaches for analysing mutational spectra: Some recommendations for categorical data.
    Piegorsch, Walter W.; Bailer, A. John // Genetics; Jan94, Vol. 136 Issue 1, p403 

    Describes statistical methodologies for comparing spectral samples of mutational damage. Statistical tests of spectral homogeneity; Computer simulation comparisons; Multiple comparisons among sites and spectra.

  • The amount of DNA polymorphism maintained in a finite population when the neutral mutation rate...
    Tajima, Fumio // Genetics; Jul96, Vol. 143 Issue 3, p1457 

    Examines the amount of DNA polymorphism maintained in a finite population when the neutral mutation rate varies among sites. Jukes and Cantor's model of mutation without rate variation; Equal-input model of mutation with rate variation; Kimura's model of mutation with rate variation.

  • Comparing mutational variabilities.
    Houle, David; Morikawa, Bob // Genetics; Jul96, Vol. 143 Issue 3, p1467 

    Examines available data on the amount of genetic variation in phenotypic traits produced each generation by mutation. Use of data to make several qualitative tests of the mutation-selection balance hypothesis for the maintenance of genetic variance; Mutational heritability; Mutational...

  • Characterization of Deleterious Mutations in Outcrossing Populations.
    Den, Hong-Wen; Slatkin, M. // Genetics; Oct98, Vol. 150 Issue 2, p945 

    Provides information on a study which developed estimation equations for the characterization of genomic mutations, in outcrossing populations. In-depth look at the genetic variance; Details on deleterious mutations; Methodology used to conduct the study; Results of the study.

  • Genetic Analysis Reveals That FLO11 Upregulation and Cell Polarization Independently Regulate...
    Palecek, Sean P.; Parikh, Archita S.; Kron, Stephen J. // Genetics; Nov2000, Vol. 156 Issue 3, p1005 

    Investigates the effect of FLO11, a cell-surface flocculin, upregulation and cell polarization on invasive growth in Saccharomyces cerevisiae. Correlation of expression of FLO11 with agar invasion; Isolation of mutations that enhance invasive growth; Effect of most dia mutations on FLO11...

  • Genetic and phenotypic analysis of thirteen essential genes in cytological interval 22F1-2; 23B1...
    Littleton, J. Troy; Bellen, Hugo J. // Genetics; Sep94, Vol. 138 Issue 1, p111 

    Identifies mutations in the Drosophila synaptotagmin gene by isolating rearrangements, point mutations and P element insertions in the 22F1-2; 23B1-2 cytological interval on chromosome arm 2L. Deficiencies uncovering cytological bands within the 22F1-2;23B1-2 interval; EMS-induced mutations;...

  • Bayesian Analysis of Mutational Spectra.
    Dunson, David B.; Tindall, Kenneth R. // Genetics; Nov2000, Vol. 156 Issue 3, p1411 

    Proposes a Bayesian hierarchical modeling approach for the analysis of mutational spectra. Tests for differences in the category probabilities and in the category-specific mutation frequencies; Importance of studies that examine both the frequency of gene mutation and the pattern or spectrum of...

  • The Effects of Rate Variation on Ancestral Inference in the Coalescent.
    Markovtsova, Lada; Marjoram, Paul; Tavare, Simon // Genetics; Nov2000, Vol. 156 Issue 3, p1427 

    Describes a Markov chain Monte Carlo approach for assessing the role of site-to-site rate variation in the analysis of within-population samples of DNA sequences using the coalescent. Impact of variation in mutation rates across sites on phylogenetic analyses based on sequence data; Methods for...

  • Running Prevents Early Aging in Mice.
    Markovtsova, Lada; Marjoram, Paul; Tavare, Simon // Science Illustrated; Mar/Apr2012, Vol. 5 Issue 2, p15 

    The article reports on the results of research on the impact of running on the early aging of mice suffering from mitochondria DNA mutations.

  • FIN5 Positively Regulates Far-red Light Responses in Arabidopsis thaliana.
    D-S. Cho; S-H. Hong; H-G. Nam; M-S. Soh // Plant & Cell Physiology; Jun2003, Vol. 44 Issue 6, p565 

    We report the characterization of a semi-dominant mutation fin5-1 (far-red insensitive 5-1) of Arabidopsis, which was isolated from genetic screening of phytochrome A (phyA) signaling components. Plants with the fin5-1 mutation exhibited a long hypocotyl phenotype when grown under far-red (FR)...

  • Mouse mutants from chemically mutagenized embryonic stem cells.
    Munroe, Robert J.; Bergstrom, Rebecca A.; Y Zheng, Qing; Libby, Brian; Smith, Richard; John, Simon W.M.; Schimenti, Kerry J.; Browning, Victoria L.; Schimenti, John C. // Nature Genetics; Mar2000, Vol. 24 Issue 3, p318 

    The drive to characterize functions of human genes on a global scale has stimulated interest in large-scale generation of mouse mutants. Conventional germ-cell mutagenesis with N-ethyl-N-nitrosourea (ENU) is compromised by an inability to monitor mutation efficiency, strain and interlocus...

  • Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis.
    Chen, Binbin; Bronson, Roderick T.; Klaman, Lori D.; Hampton, Thomas G.; Wang, Ju-feng; Green, Patricia J.; Magnuson, Terry; Douglas, Pamela S.; Morgan, James P.; Neel, Benjamin G. // Nature Genetics; Mar2000, Vol. 24 Issue 3, p296 

    Atrioventricular and semilunar valve abnormalities are common birth defects, but how cardiac valvulogenesis is directed remains largely unknown. During studies of genetic interaction between Egfr, encoding the epidermal growth factor receptor, and Ptpn11, encoding the...

  • Regulation of left-right patterning in mice by growth/differentiation factor-1.
    Rankin, Christopher T.; Bunton, Tracie; Lawler, Ann M.; Lee, Se-Jin // Nature Genetics; Mar2000, Vol. 24 Issue 3, p262 

    The transforming growth factor-β (TGF-β) superfamily encompasses a large group of structurally related polypeptides that are capable of regulating cell growth and differentiation in a wide range of embryonic and adult tissues. Growth/differentiation factor-1 (Gdf-1, encoded by Gdf1) is a...

  • AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1.
    Satoh, Seiji; Daigo, Yataro; Furukawa, Yoichi; Kato, Tatsushi; Miwa, Nobutomo; Nishiwaki, Tadashi; Kawasoe, Teru; Ishiguro, Hideyuki; Fujita, Manabu; Tokino, Takashi; Sasaki, Yo; Imaoka, Shingi; Murata, Masaru; Shimano, Takashi; Yamaoka, Yoshio; Nakamura, Yusuke // Nature Genetics; Mar2000, Vol. 24 Issue 3, p245 

    The Wnt signalling pathway is essential for development and organogenesis. Wnt signalling stabilizes β-catenin, which accumulates in the cytoplasm, binds to T-cell factor (TCF; also known as lymphocyte enhancer-binding factor, LEF) and then upregulates downstream genes. Mutations in CTNNB1...

  • SETBP1 mutation analysis in 944 patients with MDS and AML.
    Thol, F; Suchanek, K J; Koenecke, C; Stadler, M; Platzbecker, U; Thiede, C; Schroeder, T; Kobbe, G; Kade, S; Löffeld, P; Banihosseini, S; Bug, G; Ottmann, O; Hofmann, W-K; Krauter, J; Kröger, N; Ganser, A; Heuser, M // Leukemia (08876924); Oct2013, Vol. 27 Issue 10, p2072 

    A letter to the editor is presented in response to the article related to germline mutations in SET binding protein 1 (SETBP1) in the May 21, 2013 issue.

  • WAVE2 deficiency reveals distinct roles in embryogenesis and Rac-mediated actin-based motility.
    M.W. Kirschner; C. Yan; R. Geha; N. Martinez-Quiles; S. Eden; F.S. Rosen; T. Shibata; F.W. Alt; F. Takeshima; R. Shinkura; Y. Fujiwara; S.B. Snapper; R. Bronson // EMBO Journal; 7/15/2003, Vol. 22 Issue 14, p3602 

    The Wiskott-Aldrich syndrome related protein WAVE2 is implicated in the regulation of actin-cytoskeletal reorganization downstream of the small Rho GTPase, Rac. We inactivated the WAVE2 gene by gene-targeted mutation to examine its role in murine development and in actin assembly....

  • A Genetic Switch in Pancreatic β-Cells.
    Ferrer, Jorge // Diabetes; Aug2002, Vol. 51 Issue 8, p2355 

    Heterozygous mutations in the genes encoding transcriptional regulators hepatocyte nuclear factor (HNF)-1α and HNF-4α cause a form of diabetes known as maturity-onset diabetes of the young (MODY). Haploinsufficiency of HNF-1α or HNF-4α results in MODY because of defective function of...

  • A novel mutation of the epithelial Na[sup +] channel causes type 1 pseudohypoaldosteronism.
    Bonny, Olivier; Knoers, Nine; Monnens, Leo; Rossier, Bernard C. // Pediatric Nephrology; Oct2002, Vol. 17 Issue 10, p804 

    Type I pseudohypoaldosteronism (PHA-1) is a rare salt wasting syndrome occurring soon after birth, characterized by apathy and severe dehydration accompanied by hyponatremia, hyperkalemia, and metabolic acidosis despite high plasma aldosterone concentrations. The molecular defect involved in the...

  • Staphylococcus aureus menD and hemB Mutants Are as Infective as the Parent Strains, but the Menadione Biosynthetic Mutant Persists within the Kidney.
    Bates, Donna M.; von Eiff, Christof; McNamara, Peter J.; Peters, Georg; Yeaman, Michael R.; Bayer, Arnold S.; Proctor, Richard A. // Journal of Infectious Diseases; 5/15/2003, Vol. 187 Issue 10, p1654 

    Discusses the generation of small colony variants (SCV) of Staphylococcus aureus via mutations in menD or hemB. Menadione and hemin auxotrophs yielded; Ability of SCV to colonize multiple tissues in vivo; MenD mutation's provision of the organism with a survival advantage during antimicrobial...

  • A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.
    Gao, Bo; Hu, Jianxin; Stricker, Sigmar; Cheung, Martin; Ma, Gang; Law, Kit Fong; Witte, Florian; Briscoe, James; Mundlos, Stefan; He, Lin; Cheah, Kathryn S. E.; Chan, Danny // Nature; 4/30/2009, Vol. 458 Issue 7242, p1196 

    Brachydactyly type A1 (BDA1) was the first recorded disorder of the autosomal dominant Mendelian trait in humans, characterized by shortened or absent middle phalanges in digits. It is associated with heterozygous missense mutations in indian hedgehog (IHH). Hedgehog proteins are important...

  • Findings offer insights into mutational processes that lead to cancer development.
    Gao, Bo; Hu, Jianxin; Stricker, Sigmar; Cheung, Martin; Ma, Gang; Law, Kit Fong; Witte, Florian; Briscoe, James; Mundlos, Stefan; He, Lin; Cheah, Kathryn S. E.; Chan, Danny // Hem/Onc Today; 10/25/2013, Vol. 14 Issue 20, p31 

    The article presents the analysis of several million mutations of cancer as of October 2013, which showed that two or more mutational signatures are present in each disease, highlighting the diversity of processes that cause cancer.

  • Certain F8 mutations increased inhibitor formation in hemophilia A.
    Gao, Bo; Hu, Jianxin; Stricker, Sigmar; Cheung, Martin; Ma, Gang; Law, Kit Fong; Witte, Florian; Briscoe, James; Mundlos, Stefan; He, Lin; Cheah, Kathryn S. E.; Chan, Danny // Hem/Onc Today; 10/25/2013, Vol. 14 Issue 20, p1 

    The article presents the results of a multicenter INSIGHT study as of October 2013, which showed that the 19 specific mutations in the Factor VIII gene were linked to the inhibitor development in patients with nonsevere hemophilia A.

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