Citations with the tag: MUTATION (Biology)

Results 251 - 300

     // Corridor Business Journal; 5/17/2010, Vol. 6 Issue 43, p19 

    The comic strip "Dilbert" is presented.

  • Mutations in the Cystic Fibrosis Transmembrane Regulator Gene in Patients With Tropical Calcific Pancreatitis.
    Bhatia, Eesh; Durie, Peter; Zielenski, Julian; Lam, David; Sikora, Sadiq S.; Choudhuri, Gourdas; Lap-Chee Tsui // American Journal of Gastroenterology; Dec2000, Vol. 95 Issue 12, p3658 

    Presents a letter to the editor about cases of mutations in the cystic fibrosis transmembrane regulator gene of patients with tropical calcific pancreatitis.

  • Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.
    Dalski, Andreas; Mitulla, Beate; Bürk, Katrin; Schattenfroh, Christoph; Schwinger, Eberhard; Zühlke, Christine // Journal of Neurology; Aug2006, Vol. 253 Issue 8, p1111 

    A letter to the editor is presented in response to the article "Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia," published in the online edition of the "Journal of Neurology" on April 28, 2006.

  • A novel presenilin 1 mutation (L282F) in familial Alzheimer’s disease.
    Hamaguchi, Tsuyoshi; Morinaga, Akiyoshi; Tsukie, Tamao; Kuwano, Ryozo; Yamada, Masahito // Journal of Neurology; Sep2009, Vol. 256 Issue 9, p1575 

    A letter to the editor on a case involving a novel presenilin 1 mutation (L282F) in familial Alzheimer's disease is presented.

  • Genetic relationship between Murcia Region (SE Spain) and other populations in the Iberian Peninsula and Mediterranean area with respect to HFE gene mutations distribution.
    Muro, Manuel; Moya-Quiles, Maria; Botella, Carmen; García, Leontino; Minguela, Alfredo; Álvarez-López, María R. // Annals of Hematology; Jun2007, Vol. 86 Issue 6, p455 

    A letter to the editor is presented in reference to articles about genetic relationship between Murcia Region (SE Spain) and other populations in the Iberian Peninsula and Mediterranean area with respect to HFE gene mutations distribution published in previous issues.

  • Allergy link to CLOCK genes.
    Muro, Manuel; Moya-Quiles, Maria; Botella, Carmen; García, Leontino; Minguela, Alfredo; Álvarez-López, María R. // GP: General Practitioner; 3/18/2013, p25 

    The article offers information on a research study which states that severe allergic reactions could be triggered by mutations in genes that regulate the body's sense of time.

  • Identification of a Germline Mutation in Keratin 17 in a Family with Pachyonychia Congenita Type 2.
    Çelebi, Julide Tok; Tanzi, Elizabeth L.; Yao, Ya Juan; Michael, Elias J.; Peacocke, Monica // Journal of Investigative Dermatology; Nov99, Vol. 113 Issue 5, p0 

    Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts. It has been demonstrated that PC-2 is associated with germline mutations...

  • Pyoderma gangrenosum in association with Janus kinase 2 (JAK2V617F) mutation.
    Ien Chan // Current Medical Literature: Dermatology; 2013, Vol. 18 Issue 1, p22 

    A review of the article "Pyoderma gangrenosum in association with Janus kinase 2 (JAK2v617F) mutation," by Palanivel et al, which appeared in the journal of "Clinical and Experimental Dermatology is presented.

  • Parasitism, mutation accumulation and the maintenance of sex.
    Howard, R. Stephen; Lively, Curtis M. // Nature; 2/10/1994, Vol. 367 Issue 6463, p554 

    Explains biparental sex as a means of evading parasitism and expunging of harmful mutation genomes. Stability of the evolution of sex with the interaction of mutation accumulation and host-parasite coevolution; Extinction of parthenogenetic mutant clones over time in sexual populations.

    Howard, R. Stephen; Lively, Curtis M. // Journal of Clinical Research in Pediatric Endocrinology; Mar2013, Vol. 5 Issue 1, p1 

    A correction to the article "Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism" that was published in a previous issue is presented.

  • Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11.
    Davis, Allan Peter; Witte, David P. // Nature; 6/29/1995, Vol. 375 Issue 6534, p791 

    Describes mice with appendicular skeleton defects arising from individual mutations in the paralogous genes hoxa-11 and hoxd-11. Zones of vertebrate forelimbs; Intermediate phenotypes in the radius and ulna produced by intermediate genotypes with three mutant alleles; Characterization of normal...

  • Targeting of non-Ig sequences in place of the V segment of somatic hypermutation.
    Yelamos, J.; Klix, N. // Nature; 7/20/1995, Vol. 376 Issue 6537, p225 

    Demonstrates that the hypermutation can effectively target a variety of non-immunoglobulin sequences that have been used to replace the V segment. Affinity maturation of antibodies; Transgene constructs; Lack of necessity of the V gene in recruiting hypermutation; General applications in biology.

  • Detection of tumor mutations in the presence of excess amounts of normal DNA.
    Sun, Xiyuan; Hung, K.; Wu, L.; Sidransky, D.; Guo, Baochuan // Nature Biotechnology; Feb2002, Vol. 20 Issue 2, p186 

    Mutations are important markers in the early detection of cancer. Clinical specimens such as bodily fluid samples often contain a small percentage of mutated cells in a large background of normal cells. Thus, assays to detect mutations leading to cancer need to be highly sensitive and specific....

  • Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and...
    Muscatelli, Francoise; Strom, Tim M. // Nature; 12/15/1994, Vol. 372 Issue 6507, p672 

    Presents a study on the effect of mutations in the DAX-1 gene on x-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature of adrenal hypoplasia congenita (AHC); Link between hypogonadotropic hypogonadism (HHG) with AHC; Physical mapping of AHC-HHG critical region;...

  • Inheritance of a Novel Flaccid Mutant in Capsicum annuum.
    Bosland, P.W. // Journal of Heredity; Sep/Oct2002, Vol. 93 Issue 5, p380 

    Describes a novel mutation in Capsicum associated with a flaccid phenotype of cotyledons and mature leaves. Methodology; Results; Discussion.

  • Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch...
    Strand, Micheline; Prolla, Tomas A. // Nature; 9/16/1993, Vol. 365 Issue 6443, p274 

    Reports on the mutations in the three yeast genes in DNA mismatch repair. One hundred- to 700-fold increases in tract instability; DNA polymerases slipping during replication.

  • Mutations in SOX2 cause anophthalmia.
    Fantes, Judy; Ragge, Nicola K.; Lynch, Sally-Ann; McGill, Niolette I.; Collin, J. Richard O.; Howard-Peebles, Patricia N.; Hayward, Caroline; Vivian, Anthony J.; Williamson, Kathy; van Heyningen, Veronica; FitzPatrick, David R. // Nature Genetics; Apr2003, Vol. 33 Issue 4, p461 

    A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia. Subsequent SOX2 mutation analysis identified de novo truncating mutations ofSOX2 in 4 of 35 (11%) individuals with anophthalmia. Both eyes...

  • A clinician's plea.
    Hall, Judith G. // Nature Genetics; Apr2003, Vol. 33 Issue 4, p440 

    Focuses on dilemma of clinicians regarding detection of human gene mutations. Information required for the detection of human gene mutations; Problems encountered by clinicians in detection of appropriate therapy for the patient; Requirements needed by clinicians to determine appropriate test...

  • Mutations in KERA, encoding keratocan, cause cornea plana.
    Pellegata, Natalia S.; Dieguez-Lucena, Jose L.; Joensuu, Tarja; Lau, Stephanie; Montgomery, Kate T.; Krahe, Ralf; Kivelä, Tero; Kucherlapati, Raju; Forsius, Henrik; de la Chapelle, Albert // Nature Genetics; May2000, Vol. 25 Issue 1, p91 

    Specialized collagens and small leucine-rich proteoglycans (SLRPs) interact to produce the transparent corneal structure. In cornea plana, the forward convex curvature is flattened, leading to a decrease in refraction. A more severe, recessively inherited form (CNA2; MIM 217300) and a milder,...

  • Erratum to “MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans”.
    Ruiz-Perez, Victor L. // Nature Genetics; May2000, Vol. 25 Issue 1, p125 

    Presents a correction to an article entitled 'MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans,' published in volume 24, year 2000 issue of the 'Nature Genetics' journal.

  • A histone mutation in cancer.
    Heinrichs, Arianne // Nature Structural & Molecular Biology; May2013, Vol. 20 Issue 5, p546 

    The article discusses a study which reveal that aberrant epigenetic silencing by the H3K27M gain-of-function mutation through inhibition of PRC2 activity may promote gliomagenesis, which could be linked to causing cancer.

  • A new ankyrin mutation (ANK1 EXON E9X) causing severe hereditary spherocytosis in the neonatal period.
    Gundel, Florian; Eber, Stefan; Heep, Axel // Annals of Hematology; Feb2011, Vol. 90 Issue 2, p231 

    A letter to the editor is presented regarding the presence of mutation E9X in the exon 1of ankyrin1 (ANK1) gene of a male neonate with spherocytosis.

  • 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.

  • Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion.
    Lange, Philipp S.; Er, Fikret; Gassanov, Natig; Hoppe, Uta C. // Cardiovascular Research; Aug2003, Vol. 59 Issue 2, p321 

    Objective: The Andersen’s syndrome is a hereditary disease, which is characterized by cardiac arrhythmias, periodic paralysis and dysmorphic features. Recently, mutations of the KCNJ2 gene, which encodes the inward rectifying potassium channel subunit Kir2.1, have been identified...

  • 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.

  • The Cells That Wouldn't DIE!
    Geiger, Beth // Current Science; 2/9/2001, Vol. 86 Issue 11, p12 

    Reports the discovery of a mutated cell in Madison, Wisconsin. Description of the mutation; Views of pathologist Lyn Allen-Hoffman on the mutated cell; Advantages of using the long-lived cells.

  • 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.

  • Hereditary rickets revealed.
    Portale, Anthony A.; Miller, Walter L. // Kidney International; Nov1998, Vol. 54 Issue 5, p1762 

    Editorial. Focuses on hereditary vitamin D-dependent rickets mutations. Type of mutations in the 1alpha-hydroxylase gene; Implication of 1alpha-hydroxylase deficiency; Molecular genetic basis for the forms of rickets.

  • Van Gogh: A new Drosophila tissue polarity gene.
    Taylor, Job; Abramova, Natasha; Charlton, Jeannette; Adler, Paul N. // Genetics; Sep98, Vol. 150 Issue 1, p199 

    Presents a study which showed that the altered polarity of adult Drosophila cuticular structures result from Van Gogh gene mutations. Information on Drosophila cuticular surfaces; Identification of location of the first Vang mutation; Method used for the study; Results of the study.

  • Increased transmitter release and aberrant synapse motphology in a Drosophila Calmodulin mutant.
    Arredondo, LaChelle; Nelson, Heidi B.; Beckingham, Kathy; Stern, Michael // Genetics; Sep98, Vol. 150 Issue 1, p265 

    Presents a study examined how the Drosophila Calmodulin gene is affected by mutatation. What Calmodulin is; Information on the gene; Method used for the study; Results of the study.

  • 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...

  • An evaluation of genetic distances for use with microsatellite loci.
    Goldstein, David B.; Linares, Andres Ruiz // Genetics; Jan95, Vol. 139 Issue 1, p463 

    Develops a genetic distance based on the stepwise mutation model that includes allelic repeat source. Inferences based on variation of microsatellite loci; Constraints on the maximum number of repeats; Multiple loci; Details of the mutation process.

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