Citations with the tag: MUTATION (Biology)

Results 251 - 300

  • Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.
    Ménasché, Gaël; Pastural, Elodie; Feldmann, Jérôme; Certain, Stéphanie; Ersoy, Fügen; Dupuis, Sophie; Wulffraat, Nico; Bianchi, Diana; Fischer, Alain; Le Deist, Françoise; de Saint Basile, Geneviève // Nature Genetics; Jun2000, Vol. 25 Issue 2, p173 

    Griscelli syndrome (GS, MIM 214450), a rare, autosomal recessive disorder, results in pigmentary dilution of the skin and the hair, the presence of large clumps of pigment in hair shafts and an accumulation of melanosomes in melanocytes. Most patients also develop an uncontrolled T-lymphocyte...

  • Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.
    Karkkainen, Marika J.; Ferrell, Robert E.; Lawrence, Elizabeth C.; Kimak, Mark A.; Levinson, Kara L.; McTigue, Michele A.; Alitalo, Kari; Finegold, David N. // Nature Genetics; Jun2000, Vol. 25 Issue 2, p153 

    Primary lymphoedema is a rare, autosomal dominant disorder that leads to a disabling and disfiguring swelling of the extremities and, when untreated, tends to worsen with time. Here we link primary human lymphoedema to the FLT4 locus, encoding vascular endothelial growth factor receptor-3...

  • Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.
    Watnick, Terry; He, Ning; Wang, Kairong; Liang, Yan; Parfrey, Patrick; Hefferton, Donna; St George-Hyslop, Peter; Germino, Gregory; Pei, York // Nature Genetics; Jun2000, Vol. 25 Issue 2, p143 

    Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2. The products of these genes associate to form heteromeric complexes. Several models have been proposed to explain the mechanism of cyst formation. Here we find somatic mutations of PKD2 in 71% of ADPKD2...

  • Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
    Chavanas, Stéphane; Bodemer, Christine; Rochat, Ariane; Hamel-Teillac, Dominique; Ali, Mohsin; Irvine, Alan D.; Bonafé, Jean-Louis; Wilkinson, John; Taïeb, Alain; Barrandon, Yann; Harper, John I.; de Prost, Yves; Hovnanian, Alain // Nature Genetics; Jun2000, Vol. 25 Issue 2, p141 

    We describe here eleven different mutations in SPINK5, encoding the serine protease inhibitor LEKTI, in 13 families with Netherton syndrome (NS, MIM256500). Most of these mutations predict premature termination codons. These results disclose a critical role of SPINK5 in epidermal barrier...

  • A novel mutation within the extracellular domain of TrkA causes constitutive receptor activation.
    Arevalo, Juan C; Conde, Blanca; Hempstead, Barbara I; Chao, Moses V; Martín-Zanca, Dionisio; Pérez, Pilar // Oncogene; 3/8/2001, Vol. 20 Issue 10, p1229 

    The TrkA NGF receptor extracellular region contains three leucine repeats flanked by cysteine clusters and two immunoglobulin-like domains that are required for specific ligand binding. Deletion of the immunoglobulin-like domains abolishes NGF binding and causes ligand independent activation of...

  • Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
    Nürnberg, Peter; Thiele, Holger; Chandler, David; Höhne, Wolfgang; Cunningham, Michael L.; Ritter, Heide; Leschik, Gundula; Uhlmann, Karen; Mischung, Claudia; Harrop, Karen; Goldblatt, Jack; Borochowitz, Zvi U.; Kotzot, Dieter; Westermann, Frank; Mundlos, Stefan; Braun, Hans-Steffen; Laing, Nigel; Tinschert, Sigrid // Nature Genetics; May2001, Vol. 28 Issue 1, p37 

    Craniometaphyseal dysplasia (CMD) is a bone dysplasia characterized by overgrowth and sclerosis of the craniofacial bones and abnormal modeling of the metaphyses of the tubular bones. Hyperostosis and sclerosis of the skull may lead to cranial nerve compressions resulting in hearing loss and...

  • PLANT PORTRAITS.
    NORRIS, NANCY // Garden Railways; Feb2014, Vol. 31 Issue 1, p26 

    The article offers information on the Dwarf conifer which was discovered as a mutation of the wider C.m. Goldcrest in Holland in 1987.

  • Molecular alterations in chronic ulcerative colitis-associated and sporadic hyperplastic polyps: a comparative analysis.
    Odze, Robert D.; Brien, Tom; Brown, Charlotte A.; Hartman, Christopher J.; Wellman, Axel; Fogt, Franz // American Journal of Gastroenterology; May2002, Vol. 97 Issue 5, p1235 

    OBJECTIVES:There is growing interest in the biological and molecular features and neoplastic potential of colonic hyperplastic polyps because of the recent finding of K-ras mutations in many of these lesions. Hyperplastic polyps may also develop in chronic ulcerative colitis (CUC), but it is...

  • Mutational Screening of the CART Gene in Obese Children.
    del Giudice, Emanuele Miraglia; Santoro, Nicola; Cirillo, Grazia; D'Urso, Luigi; Di Toro, Rosario; Perrone, Laura // Diabetes; Sep2001, Vol. 50 Issue 9, p2157 

    Examines the correlation between Leu34Phe mutation associated with resting energy expenditure and obesity phenotype. Role of cocaine- and amphetamine-regulated transcript (CART) in the sympathetic outflow; Regulation of body temperature by CART; Genetics of body-weight regulation.

  • Association of a Novel Point Mutation (C159G) of the CTLA4 Gene With Type 1 Diabetes in West Africans but not in Chinese.
    Osei-Hyiaman, Douglas; Lifang Hou; Ren Zhiyin; Zhang Zhiming; Haiquin Yu; Amankwah, Abena Agyeiwaa; Harada, Shoji // Diabetes; Sep2001, Vol. 50 Issue 9, p2169 

    Compares the association of CTLA4 gene mutation with type 1 diabetes between West Africans and Chinese. Prevalence of the risk of type 1 diabetes in Chinese children with CTLA4 49 mutation; Impact of CTLA4 159 on West African children; Use of polymerase chain reaction for polymorphism.

  • Defective IL7R expression in T-B+NK+ severe combined immunodeficiency.
    Puel, Anne; Ziegler, Steven F.; Buckley, Rebecca H.; Leonard, Warren J. // Nature Genetics; Dec98, Vol. 20 Issue 4, p394 

    Severe combined immunodeficiency (SCID) is caused by multiple genetic defects. The most common form of SCID, X-linked SCID (XSCID), results from mutations in IL2RG (ref. 4), which encodes the common cytokine receptor γ chain (γc) that is shared by the IL-2, IL-4, IL-7, IL-9 and IL-15...

  • Novel human pathological mutations.
    Puel, Anne; Ziegler, Steven F.; Buckley, Rebecca H.; Leonard, Warren J. // Human Genetics; Jun2007, Vol. 121 Issue 5, p645 

    A correction to the article about human pathological mutations which appeared in a 2005 issue is presented.

  • Complete map of cystic fibrosis mutation DF508 frequencies in Western Europe and correlation...
    Lucotte, Gerard; Hazout, Serge // Human Biology; Oct95, Vol. 67 Issue 5, p797 

    Analyzes the frequencies of DF508, the main cystic fibrosis mutation, among different populations in western Europe. Correlation between DF508 frequency values and cystic fibrosis incidence.

  • Familial endometrial cancer in female carriers of MSH6 germline mutations.
    Wijnen, Juul; Leeuw, Wiljo de; Vasen, Hans; Klift, Heleen van der; Møller, Pål; Stormorken, Astrid; Meijers-Heijboer, Hanne; Lindhout, Dick; Menko, Fred; Vossen, Sandra; Möslein, Gabriela; Tops, Carli; Bröcker-Vriends, Annette; Wu, Ying; Hofstra, Robert; Sijmons, Rolf; Cornelisse, Cees; Morreau, Hans; Fodde, Riccardo // Nature Genetics; Oct99, Vol. 23 Issue 2, p142 

    Focuses on familial endometrial cancer in female carriers of MSH6 repair gene germline mutations. Truncating mutations at MSH6 in hereditary non-polyposis colorectal cancer; Microsatellite analysis in tumors of four kindreds with truncating MSH6 mutations; Detection of missense MSH6 mutations.

  • Flower power.
    Ronemus, Michael // Nature Genetics; Oct99, Vol. 23 Issue 2, p132 

    Comments on articles on the epimutation of flowers, published in previous issues of 'Nature Genetics.' Bilateral and radial symmetry in epimutant flowers of Linaria owing to differences in methylation state; Proposal that aberrant activation of a silencing process in the meristem might be the...

  • The callipyge mutation enhances the expression of coregulated imprinted genes in cis without affecting their imprinting status.
    Charlier, Carole; Segers, Karin; Karim, Latifa; Shay, Tracy; Gyapay, Gabor; Cockett, Noelle; Georges, Michel // Nature Genetics; Apr2001, Vol. 27 Issue 4, p367 

    The callipyge (CLPG) phenotype (from καλι, “beautiful,” and πιγε, “buttocks”) described in sheep is an inherited muscular hypertrophy that is subject to an unusual parent-of-origin effect referred to as polar overdominance: only heterozygous...

  • Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease.
    Carrasquillo, Minerva M.; McCallion, Andrew S.; Puffenberger, Erik G.; Kashuk, Carl S.; Nouri, Nassim; Chakravarti, Aravinda // Nature Genetics; Oct2002, Vol. 32 Issue 2, p237 

    Genetic studies of Hirschsprung disease, a common congenital malformation, have identified eight genes with mutations that can be associated with this condition. Mutations at individual loci are, however, neither necessary nor sufficient to cause clinical disease. We conducted a genome-wide...

  • Erratum: Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice.
    Hoogenraad, C C; Koekkoek, B; Akhmanova, A; Krugers, H; Dortland, B; Miedema, M; van Alphen, A; Kistler, W M; Jaegle, M; Koutsourakis, M; Camp, N Van; Verhoye, M; van der Linden, A; Kaverina, I; Grosveld, F; Zeeuw, C I De; Galjart, N // Nature Genetics; Oct2002, Vol. 32 Issue 2, p331 

    Presents a corrected version of the article 'Targeted Mutation of Cyln2 in the Williams Syndrome Critical Region Links CLIP-115 Haploinsufficiency to Neurodevelopmental Abnormalities in Mice,' published in a previous issue of 'Nature Genetics.'

  • Inducible, pharmacogenetic approaches to the study of learning and memory.
    Ohno, Masuo; Frankland, Paul W.; Chen, Adele P.; Costa, Rui M.; Silva, Alcino J. // Nature Neuroscience; Dec2001, Vol. 4 Issue 12, p1238 

    Here we introduce a strategy in which pharmacology is used to induce the effects of recessive mutations. For example, mice heterozygous for a null mutation of the K-ras gene (K-ras+/-) show normal hippocampal mitogen-activated protein kinase (MAPK) activation, long-term potentiation (LTP) and...

  • The inheritance of variegated seed color and palmitic acid in flax.
    Saeidi, G.; Rowland, G.G. // Journal of Heredity; Nov/Dec97, Vol. 88 Issue 6, p466 

    Examines the results of a study on the inheritance of a variegated seed coat color mutation and its linkage relationship with the high palmitic acid mutation. Detailed description of the methodology used in the study; Discussion on its results.

  • Hairy-sheath-frayed 1-O is a non-cell-autonomous mutation that regulates developmental stage...
    Saberman, J.; Bertrand-Garcia, R. // Journal of Heredity; Nov/Dec97, Vol. 88 Issue 6, p549 

    Presents the results of a study conducted on the hairy-sheath-frayed 1-O, a non-cell-autonomous mutation which regulates developmental stage transitions in Maize. What mutants that affect developmental timing and segmentation patterns in plants are called; Description of the methodology used in...

  • Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophrenia.
    Ohtsuki, T.; Sakurai, K.; Dou, H.; Toru, M.; Yamakawa-Kobayashi, K.; Arinami, T. // Molecular Psychiatry; 2001, Vol. 6 Issue 2, p211 

    NMDA receptor dysfunction may be involved in the pathophysiology of schizophrenia. Based on this hypothesis, we screened 48 Japanese patients with schizophrenia for mutations in the coding region of the NMDAR2B subunit gene (GRIN2B). An association study between the identified DNA sequence...

  • Human genitics: Determining de novo mutation rates.
    flintof, Louisa // Nature Reviews Genetics; Oct2012, Vol. 13 Issue 10, p674 

    The article focuses on studies regarding human de novo mutation rate to understand human evolution and the origins of genetic disorders.

  • Rapid Detection of the DPYD IVS14+1G>A Mutation for Screening Patients to Prevent Fluorouracil-Related Toxicity.
    Lazar, Andreas; Gründemann, Dirk; Schömig, Edgar // Molecular Diagnosis & Therapy; Sep2007, Vol. 11 Issue 5, p341 

    A letter to the editor is presented in response to the study "Rapid Detection of the DPYD IV-S14+1G>A Mutation for Screening Patients to Prevent Fluorouracil-Related Toxicity," by T. M. Bosch, et al published in a previous issue.

  • Rapid Detection of the DPYD IVS14+1G>A Mutation for Screening Patients to Prevent Fluorouracil-Related Toxicity.
    Bosch, Tessa M. // Molecular Diagnosis & Therapy; Sep2007, Vol. 11 Issue 5, p342 

    A response by Tessa M. Bosch to a letter to the editor about her study "Rapid Detection of the DPYD IV-S14+1G>A Mutation for Screening Patients to Prevent Fluorouracil-Related Toxicity" published in a previous issue is presented.

  • Imperfect genes, fisherian mutation and the evolution of sex.
    Peck, Joel R.; Barreau, Guillaume // Genetics; Apr97, Vol. 145 Issue 4, p1171 

    Presents a mathematical model of mutation and selection that allows for the coexistence of multiple alleles at a locus with very small selective differences between alleles. Determination of fitness by multiple loci; Effects of altering the mode of reproduction; Effects of altering the...

  • Estimating effective population size or mutation rate using the frequencies of mutations of...
    Fu, Yun-Xin // Genetics; Dec94, Vol. 138 Issue 4, p1375 

    Presents a framework for estimating the essential parameter theta=4N (Effective size of the population) Mu (Mutation rate per sequence per generation). Use of frequencies of mutations of various sizes and types; Combination of coalescent theory, general linear model and Monte-Carlo integration;...

  • Extragenic suppressors of nudC3, a mutation that blocks nuclear migration in Aspergillus nidulans.
    Chiu, Ya-Hui; Morris, N. Ronald // Genetics; Oct95, Vol. 141 Issue 2, p453 

    Examines 16 suppressors of nudC3 (snc) mutations in nine different genes that are able to suppress the temperature sensitivity of nud C3, a cloned gene from Aspergillus nidulans, nuclear migration mutation. Cytoplasmic dynein; Dynactin; Extragenic suppressors.

  • The structure and paramutagenicity of the R-marbled haplotype of Zea mays.
    Panavas, Tadas; Weir, Jessica // Genetics; Oct99, Vol. 153 Issue 2, p979 

    Investigates the structure and paramutation properties of the R-mb haplotype of Zea mays. Fewer r1 gene copies of the derivatives of R-mb; Absence of Dopphia sequences in the R-mb haplotype; Identification of a transposable element at R-mb.

  • Mutations in new cell cycle genes that fail to complement a multiply mutant third chromosome of...
    White-Cooper, Helen; Carmena, Mar // Genetics; Nov96, Vol. 144 Issue 3, p1097 

    Presents a study which simultaneously screened for new alleles and second site mutations that fail to complement five cell cycle mutations of Drosophila carried on a single third chromosome. Construction of a chromosome carrying mutations; Identification of new polo alleles and scant; Mutations...

  • Developmental genetics of the essential Drosophila nucleoporin nup154: Allelic differences due to...
    Kiger, Amy A.; Gigliotti, Silvia // Genetics; Oct99, Vol. 153 Issue 2, p799 

    Discusses the phenotypic and molecular analysis of strong loss-of-function mutations in the conserved Drosophila nucleoporin. Importance of the nup154 gene for viability and normal cell proliferation; Expression of nup154 in tissues undergoing mitotic proliferation.

  • Dosage suppressors of a benomyl-dependent tubulin mutant: Evidence for a link between microtubule...
    Machin, Nathan A.; Lee, Janet M.; Chamany, Katayoun; Barnes, Georjana // Genetics; Dec96, Vol. 144 Issue 4, p1363 

    Investigates the regulation of microtubule stability by studying a mutation that alters microtubule stability. Isolation of the hyperstable microtubule phenotype of the budding yeast tub2-150 beta-tubulin mutation; Overexpression of JSN2 mutants with altered codons; Encoding the JSN3 of a...

  • Nature of deleterious mutation load in Drosophila.
    Keightley, Peter D. // Genetics; Dec96, Vol. 144 Issue 4, p1992 

    Discusses the results of a study on the nature of deleterious mutation load in Drosophila. Dependence of the evolution theory on knowledge of genomic mutation rates; Analysis of the distribution of variables of chromosomes exposed to EMS mutagenesis.

  • Nonequivalent Loci and the Distribution of Mutant Effects.
    Welch, J.J.; Waxman, D. // Genetics; Jun2002, Vol. 161 Issue 2, p897 

    Examines the measurement of mutant effects on a polygenic trait in leptokurtic. Details on the property of individual loci that control the trait; Method of incorporating nonequivalent loci into quantitative genetic modeling; Maintenance of a quantitative genetic variation.

  • Frequent Germline Mutations and Somatic Repeat Instability in DNA Mismatch-Repair-Deficient Caenorhabditis elegans.
    Tijsterman, Marcel; Pothof, Joris; Plasterk, Ronald H.A. // Genetics; Jun2002, Vol. 161 Issue 2, p651 

    Examines the frequent germline mutations and instability in DNA mismatch-repair-deficient mutants. Recognition of mismatch-repair-deficient mutants as mutation-prone derivatives of bacteria; Analysis of the fidelity of transmission of genetic information; Effect of DNA mismatch repair mutations...

  • A Mutational Analysis of dishevelled in Drosophila Defines Novel Domains in the Dishevelled Protein as Well as Novel Suppressing Alleles of axin.
    Penton, Andrea; Wodarz, Andreas; Nusse, Roel // Genetics; Jun2002, Vol. 161 Issue 2, p747 

    Discusses the mutational analysis of dishevelled (dsh) protein in Drosophila. Examination of the potential role of protein phosphorylation by site-directed mutagenesis; Significance of signaling molecules for cell-cell communication; Importance of dsh in generating planar polarity.

  • Mutation of a Novel Gene Results in Abnormal Development of Spermatid Flagella, Loss of Intermale Aggression and Reduced Body Fat in Mice.
    Campbell, Patrick K.; Waymire, Katrina G.; Heier, Robb L.; Sharer, Catherine; Day, Diane E.; Reimann, Heike; Jaje, J. Michael; Friedrich, Glenn A.; Burmeister, Margit; Bartness, Timothy J.; Russell, Lonnie D.; Young, Larry J.; Zimmer, Michael; Jenne, Dieter E.; MacGregor, Grant R. // Genetics; Sep2002, Vol. 162 Issue 1, p307 

    Investigates the gene-trap mutation on the development of spermatid flagellum in mice. Abnormality in spermatid flagella development; Loss of intermale aggression; Reduction of body fat.

  • An Allelic Series of Mutations in the Kit ligand Gene of Mice. I. Identification of Point Mutations in Seven Ethylnitrosourea-Induced Kitl[sup Stell] Alleles.
    Rajaraman, S.; Davis, W.S.; Mahakali-Zama, A.; Evans, H.K.; Russell, L.B.; Bedell, M.A. // Genetics; Sep2002, Vol. 162 Issue 1, p331 

    Describes the allelic series of mutations in the Kit ligand gene of mice. Importance of Kit ligand in hematopoietic cells; Similarities between Kitl and colony-stimulating factor 1; Identification of pointmutations in the ethylnitrosourea-induced Kitl alleles.

  • An Allelic Series of Mutations in the Kit ligand Gene of Mice. II. Effects of Ethylnitrosourea-Induced Kitl Point Mutations on Survival and Peripheral Blood Cells of Kitl[sub Stell] Mice.
    Rajaraman, S.; Davis, W.S.; Mahakali-Zama, A.; Evans, H.K.; Russell, L.B.; Bedell, M.A. // Genetics; Sep2002, Vol. 162 Issue 1, p341 

    Investigates the effects of ethylnitrosourea-induced Kitl point mutations on the survival and peripheral blood cells of Kitl mice. Correlation between anemia and lethality; Occurrence of mild pigmentation defects and anemia; Importance of germ cells and melanocytes in hematopoietic cell...

  • Courtship and Other Behaviors Affected by a Heat-Sensitive, Molecularly Novel Mutation in the cacophony Calcium-Channel Gene of Drosophila.
    Chan, Betty; Villella, Adriana; Funes, Pablo; Hall, Jeffrey C. // Genetics; Sep2002, Vol. 162 Issue 1, p135 

    Investigates the effect of mutation in the cacophony calcium-channel gene of drosophila on courtship behaviors. Exposure of cacophony males to elevated temperature; Molecular etiology of cacophony mutation; Role of cacophony in enhancing comatose mutation effects.

  • Identification and Analysis of a Hyperactive Mutant Form of Drosophila P-Element Transposase.
    Beall, Eileen L.; Mahoney, Matthew B.; Rio, Donald C. // Genetics; Sep2002, Vol. 162 Issue 1, p217 

    Identifies the hyperactive mutant form of drosophila P-element transposase. Regulation of the frequency of DNA damage; Role of DNA breakage and joining reactions in DNA damage; Elevation in the level of transposase activity by S129A mutant.

  • Fixation Probability and Time in Subdivided Populations.
    Whitlock, Michael C. // Genetics; Jun2003, Vol. 164 Issue 2, p767 

    New alleles arising in a population by mutation ultimately are either fixed or lost. Either is possible, for both beneficial and deleterious alleles, because of stochastic changes in allele frequency due to genetic drift. Spatially structured populations differ from unstructured populations in...

  • Likelihood-Based Estimation of Microsatellite Mutation Rates.
    Whittaker, John C.; Harbord, Roger M.; Boxall, Nicola; Mackay, Ian; Dawson, Gary; Sibly, Richard M. // Genetics; Jun2003, Vol. 164 Issue 2, p781 

    Microsatellites are widely used in genetic analyses, many of which require reliable estimates of microsatellite mutation rates, yet the factors determining mutation rates are uncertain. The most straightforward and conclusive method by which to study mutation is direct observation of allele...

  • Estimating Mutation Rate: How to Count Mutations?.
    Yun-Xin Fu; Haying Huai // Genetics; Jun2003, Vol. 164 Issue 2, p797 

    Mutation rate is an essential parameter in genetic research. Counting the number of mutant individuals provides information for a direct estimate of mutation rate. However, mutant individuals in the same family can share the same mutations due to premeiotic mutation events, so that the number of...

  • Comparing Analysis Methods for Mutation-Accumulation Data: A Simulation Study.
    García-Dorado, Aurora; Gallego, Araceli // Genetics; Jun2003, Vol. 164 Issue 2, p807 

    We simulated single-generation data for a fitness trait in mutation-accumulation (MA) experiments, and we compared three methods of analysis. Bateman-Mukai (BM) and maximum likelihood (ML) need information on both the MA lines and control lines, while minimum distance (MD) can be applied with or...

  • A Method for Detecting Recent Selection in the Human Genome From Allele Age Estimates.
    Toomajian, Christopher; Ajioka, Richard S.; Jorde, Lynn B.; Kushner, James P.; Kreitman, Martin // Genetics; Sep2003, Vol. 165 Issue 1, p287 

    Develops a method to test for recent selection by estimating the age of an allele from the extent of haplotype sharing at linked sites. Use of neutral coalescent simulations to determine the likelihood of the age given the allele's observed frequency; Application of the method to a common...

  • An estimated frequency of endogenous insertional mutations in humans.
    Kazazian, Haig H. // Nature Genetics; Jun99, Vol. 22 Issue 2, p130 

    Focuses on the estimated frequencies of endogenous insertional mutations in humans. Causative agents of endogenous genomic insertions; Steps of retrotransposition; Number of mutations arising from retrotransposon-mediated insertion; Frequency of mutations in human genome per nucleotide.

  • Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
    Shimodaira, Hideki; Filosi, Nicole; Shibata, Hiroyuki; Suzuki, Takao; Radice, Paolo; Kanamaru, Ryunosuke; Friend, Stephen H.; Kolodner, Richard D.; Ishioka, Chikashi // Nature Genetics; Aug98, Vol. 19 Issue 4, p384 

    Hereditary non-polyposis colorectal cancer (HNPCC; OMIM 120435-6) is a cancer-susceptibility syndrome linked to inherited defects in human mismatch repair (MMR) genes. Germline missense human MLH1 (hMLH1) mutations are frequently detected in HNPCC (ref. 3), making functional characterization of...

  • LISsen up!
    Walsh, Christopher A // Nature Genetics; Aug98, Vol. 19 Issue 4, p307 

    Studies the mutation of the beta subunit of platelet-activating factor acetylhydrolase (PAFAH1B1) in mouse. Association between human lissencephaly and PAFAh1B1 mutation; Role of PAFAH1B1 in neuronal migration; Comparison between PAFAH1B1 phenotypes and other mouse mutants.

  • Letter to the Editor.
    Cotton, Richard G. H.; Scriver, C. R. // Human Genomics; Mar2006, Vol. 2 Issue 5, p272 

    A letter to the editor is presented in response to the article "Human Mutation Databases," by David Nelson in the previous issue of the journal.

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