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Sample search results for: abcb4 gene mutations

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1 Summary and concluding remarks Summary and concluding remarks
 

Summary:  are recognized as floppases. ABCB4 is a selective floppase for phophatidylcholine which also affects membrane... explore the role of bone marrow derived ABCB4 on cardiovascular disease by means of transplantation... of ABCB4 deficient bone marrow into the LDL ...

  

Source: van den Brink, Jeroen - Leiden Institute of Physics, Universiteit Leiden

 

Collection: Physics

 
2 Response to "PREDICTABLE DIFFICULTY OR DIFFICULTY TO PREDICT" by Tams Arnyi, Krisztina Fulop, Orsolya Symmons, Viola Pomozi, and Andrs Vradi
 

Summary:  diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). Drug Metab Dispos 34... automated bioinformatics tool, we recently classified 40 point mutations in ABC transporters as "neutral... mutations, with a different impact on a different function: Mutation ...

  

Source: Sali, Andrej - Department of Biochemistry and Biophysics, University of California at San Francisco

 

Collection: Biology and Medicine ; Biotechnology

 
3 Erwin Geuken , Dorien S. Visser
 

Summary:  resistance protein 3 (MDR3; gene symbol ABCB4), the bile salt export pump (BSEP; gene symbol ABCB11), ABCG5... translocator MDR3 (gene symbol ABCB4), were also determined, as summarized in Figure 4. Except for minor, non... translocator MDR3 ...

  

Source: Groningen, Rijksuniversiteit - Centre for Ecological and Evolutionary Studies, Department of Marine Benthic Ecology and Evolution,

 

Collection: Biology and Medicine ; Environmental Sciences and Ecology

 
4 Sminaire du Centre de Recherche
 

Summary:  Maurice de l'UMR S 538 Pour sa présentation: Effet de mutations du gène MDR3 (ABCB4) #12;Sandra Dupouy de... ont présentés leur poster... Mathieu Boissan de l'U680 avec NM23-H1 metastasis suppressor gene

  

Source: Gaïffas, Stéphane - Laboratoire de Statistique Théorique et Appliquée, Université Pierre-et-Marie-Curie, Paris 6

 

Collection: Mathematics

 
5 Copyright 2010 by the Genetics Society of America DOI: 10.1534/genetics.109.110510
 

Summary:  was repeated using estimated mutation rates from each gene rather than across all sites in the data set... along the dystrophin gene can be ex- plained by more than one mechanism of mutagenesis. Hum. Mutat. 9... ABCB1 7 87134535 G 170 C 14 A 2 ABCB4 7 87081432 T 164 ...

  

Source: Eyre-Walker, Adam - Department of Biology and Environmental Science, University of Sussex

 

Collection: Biology and Medicine

 
6 Protein & Peptide Letters, 2009, 16, 1533-1547 1533 0929-8665/09 $55.00+.00 2009 Bentham Science Publishers Ltd.
 

Summary:  and is associated with mutation in another membrane transporter, ABCB4 (MDR3), which is a lipid translocator... accumulation. This abnormal transport is due to the mutations in the gene CTNS which codes for cystinosin... is a kidney stone disease, the primary form of which is associ- ...

  

Source: Obradovic, Zoran - Center for Information Science and Technology & Department of Computer and Information Sciences, Temple University

 

Collection: Computer Technologies and Information Sciences

 
7 Ecole Polytechnique Thse de doctorat
 

Summary:  provoquées par des mutations d'ABCB4 (de Vree et al. 1998) et ABCB11 (Strautnieks et al. 1998). pastel... ........................................................................................................................... 201 5 QUANTIFICATION DU TRANSPORTEUR ABCB4... , ABC17, ...

  

Source: Ecole Polytechnique, Centre de mathématiques

 

Collection: Mathematics

 
8 Molecular mechanisms of the chemopreventive effect on hepatocellular carcinoma development in
 

Summary:  . Materials and Methods Animal Experiments Founders of the FVB.129P2-Abcb4tm1Bor (Mdr2-KO; old name, FVB.129P2... of the Hebrew University Medical School. The F1 hybrids produced by breeding of an FVB.129P2- Abcb4tm1Bor male... cholangitis in Mdr2 (Abcb4) knockout ...

  

Source: Domany, Eytan - Physics of Complex Systems, Weizmann Institute of Science

 

Collection: Biology and Medicine ; Physics

 
9 PharmGKB Submission Update: IV. PMT Submissions of Genetic Variations in ATP-
 

Summary:  , ABCB4, ABCB11, ABCC1, and ABCC2: 247 (494 chromosomes); ABCC3, ABCC4, ABCC5, and ABCG2: 276 (552... ://www.pharmgkb.org/views/index.jsp?objId PS204605&objCls Submission 10/28/04 12/11/04 ABCB4 http://www.pharmgkb.org/views/index.jsp?objId PS... , M14758 5243 ABCB4 ...

  

Source: Sali, Andrej - Department of Biochemistry and Biophysics, University of California at San Francisco

 

Collection: Biology and Medicine ; Biotechnology

 
10 Molecular Mechanisms of Liver Carcinogenesis in the Mdr2-Knockout Mice
 

Summary:  and in humans, contain several genes whose loss of heterozygosity, mutations, or down-regulation was shown... .129P2-Abcb4tm1Bor (Mdr2-KO; old name FVB.129P2-Pgy24tm1Bor ) and the wild-type FVB/NJ mice were... by breeding of an FVB.129P2-Abcb4tm1Bor male and an FVB/NJ ...

  

Source: Domany, Eytan - Physics of Complex Systems, Weizmann Institute of Science

 

Collection: Biology and Medicine ; Physics

 
11 Classic view -organismal populations are well adapted to the environment
 

Summary:  - the source of genetic variation · Point mutations · Chromosomal inversions · Gene duplication · Genome... Redundant Genetic code AUG = Start synthesis UAG, UGA, UAA = Stop synthesis #12;Point Mutations Gene... of heterozygotes in a population across loci, or the fraction of genes ...

  

Source: Carstens, Bryan - Department of Biological Sciences, Louisiana State University

 

Collection: Environmental Sciences and Ecology ; Biology and Medicine

 
12 Variation is one of the legs in the three-legged stool model of evolution 1. variation
 

Summary:  (TEs) Keywords and Ideas Mutation ·lateral gene transfer #12;... by available mutations Many kinds of mutations Rates of mutation vary tremendously Most mutations... are deleterious, i.e. they reduce fitness Mutation and Recombination #12;·Most ...

  

Source: Castillo-Davis, Cristian I. - Department of Biology, University of Maryland at College Park

 

Collection: Biology and Medicine

 
13 Function of prokaryotic and eukaryotic ABC proteins in lipid transport Antje Pohla,b
 

Summary:  gene [106]. In some cases of progressive familiar intrahepatic cholestasis (type III) in humans, ABCB4... secretion dendritic cell migration ABCB4 MDR2/3 Pgp bile formation C6-nbd-PC PC progessive familiar... the transport of PC into the bile of mice lacking Mdr2 (homologous to human ...

  

Source: Institut de Biologie Physico-Chimique CNRS, Physico-Chimie Moléculaire des Membranes Biologiques

 

Collection: Chemistry ; Biology and Medicine

 
14 Molecular Biology 311 Dr. Deborah Lycan
 

Summary:  of function mutations in the lacI gene and in the lac operator both have a lac constitutive phenotype... . But loss of function mutations in the lacI gene will be recessive, and thus will have no phenotype... in a diploid cells which has 2 copies of the lacI gene (lacI+), only 1 of which ...

  

Source: Lycan, Deborah E. - Department of Biology, Lewis and Clark College

 

Collection: Biology and Medicine

 
15 September 22, 2008 14:48 Proceedings Trim Size: 9in x 6in TreeQA TREEQA: QUANTITATIVE GENOME WIDE ASSOCIATION MAPPING
 

Summary:  of these genes. Due to space limitation, we only show the results for one of them, Abcb4, in Figure 4. 129S1/Sv... Ppara, Abcb4 and Rxrb. The top peaks reported by SMA and HAM are often far from the locations... is to identify genes or narrow regions in the genome ...

  

Source: Wang, Wei - Department of Computer Science, University of North Carolina at Chapel Hill

 

Collection: Computer Technologies and Information Sciences ; Biology and Medicine

 
16 Hormone Transport Ian D. Kerr, David J. Carrier and Jamie Twycross
 

Summary:  (ZmPgp1;46%) ABCB4a ABD33400.2 (41%) OsABCB4;56%EDQ51051(ABCB13;57%)CAE47098 (28%) AAR00316(ZmPgp1... postulated to be auxin transporters in plants, viz ABCB1, ABCB4 and ABCB19. Mutants in Atpgp1 (encoding ABCB1... transporters in auxin transport (Noh et al. 2001, ...

  

Source: Twycross, Jamie - School of Computer Science, University of Nottingham

 

Collection: Computer Technologies and Information Sciences

 
17 DNA Testing for Mutations of BRCA1 and BRCA2 A woman has an 11-12% lifetime risk of developing breast cancer, and a 1% lifetime risk of developing ovarian
 

Summary:  cancer susceptibility genes have been isolated, BRCA1 and BRCA2, with germline mutations in these genes... two common mutations in the BRCA1 gene (185delAG and 5382insC) and one common mutation in BRCA2 gene... in the Ashkenazi Jewish population, ...

  

Source: Das, Soma - Department of Human Genetics, University of Chicago

 

Collection: Biology and Medicine

 
18 This Provisional PDF corresponds to the article as it appeared upon acceptance. Copyedited and fully formatted PDF and full text (HTML) versions will be made available soon.
 

Summary:  with partial loss-of-function of the gene. Hypomorphic mutations can induce a light coat color phenotype while... mutation affecting the regulation of the Kit gene (Sow3). Homozygous animals generated for the four... and Whc1) and one potential mutation affecting the regulation of the ...

  

Source: Ecole Polytechnique, Centre de mathématiques

 

Collection: Mathematics

 
19 Exploring the Relationship between Neutral and Selective Mutations in Cancer
 

Summary:  instability [18] and uncontrolled proliferation [16]. The most commonly mutated tumor suppressor gene across... , we could ask, if cancer requires 2 (or more) selective mutations in genes such as p16, what... is the chance of developing can- cer? Or, if a mutation in a ...

  

Source: New Mexico, University of - Santa Fe Institute & Department of Computer Science, Computer Immune Systems Group

 

Collection: Biology and Medicine ; Computer Technologies and Information Sciences

 
20 Multiple Adaptive Mechanisms to Chronic Liver Disease Revealed at Early Stages of Liver Carcinogenesis
 

Summary:  Mice. Founders of the FVB.129P2-Abcb4tm1Bor (Mdr2-KO; old name FVB.129P2-Pgy2tm1Bor ) and the wild... School. The F1 hybrids produced by breeding of a FVB.129P2-Abcb4tm1Bor male and a FVB/NJ female were used... , 2006 4010 www.aacrjournals.org sclerosing cholangitis in Mdr2 ...

  

Source: Domany, Eytan - Physics of Complex Systems, Weizmann Institute of Science

 

Collection: Biology and Medicine ; Physics


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21 July 30, 2007 (revised) Brief Historical Perspectives of the Paper
 

Summary:  is the mutational change of the protein-coding and regulatory regions of genes. In both regions of genes major... is caused primarily by the major-effect mutations (the major gene- effect hypothesis; Nei 1987). Here... (or Morgan's theory), because I maintain that new species are ...

  

Source: Nei, Masatoshi - Department of Biology, Pennsylvania State University

 

Collection: Environmental Sciences and Ecology ; Biology and Medicine

 
22 An overview of the information to be gathered for the bioinformatics assignment A. INFORMATION ON PATENTS
 

Summary:  of mutation have been discovered in this gene? (5) What is the normal function of the protein encoded... by this gene? How do mutations in this gene alter the function of the protein, and lead to the disease? (6) One... . INFORMATION ON YOUR CHOSEN GENE AND DISEASE ...

  

Source: Barrette-Ng, Isabelle - Department of Biological Sciences, University of Calgary

 

Collection: Biology and Medicine

 
23 CLASS 1.2: 01/23/07 THE CONCEPT OF THE GENE
 

Summary:  . Genes are often defined based on mutations/phenotype - Phenotype = - Most mutations that affect gene... functionally by complementation - Most genes are pleiotrophic = - Cannot assume that because two mutations... complement = b. If two ...

  

Source: Andres, Andrew - School of Life Sciences, University of Nevada at Las Vegas

 

Collection: Biology and Medicine

 
24 Biology 2250 Principles of Genetics
 

Summary:  - Gene mutation - Chromosome mutation (- Quantitative and population genetics) B2900 Penetrance... . Mutation Source of genetic variation: Gene Mutation (Phenotypic effects) - somatic, germinal Chromosome... mutations (Ch. 11 prob. 1, 2) ...

  

Source: Innes, David J. - Department of Biology, Memorial University of Newfoundland

 

Collection: Environmental Sciences and Ecology

 
25 Modeling the Role of Neutral and Selective Mutations in Cancer C. C. Maley 1
 

Summary:  genetics. For exam- ple, we could ask, if cancer requires 2 (or more) selective mutations in genes... such as p16, what is the chance of developing cancer? Or, if a mutation in a gene such as p53 boosts... by c m . Let #22; be the mutation rate per locus per cell generation, km the ...

  

Source: New Mexico, University of - Santa Fe Institute & Department of Computer Science, Computer Immune Systems Group

 

Collection: Biology and Medicine ; Computer Technologies and Information Sciences

 
26 DNA Mutation and Repair Without the Variation that Arises from Changes in DNA Sequences there would be No
 

Summary:  from Mutations Allows the Identification of Genes Responsible for the . Mutations Act as So they Can... Region of a Gene or Within Flanking Regions that Affect How a Gene is . Mutations May or May Not Change... the Associated with a Particular ...

  

Source: Cutler, Chris - Department of Biology, Georgia Southern University

 

Collection: Biology and Medicine ; Environmental Sciences and Ecology

 
27 1/16/09 10:27 AMSpontaneous gene mutations linked to non-familial schizophrenia Page 1 of 2http://www.patienthealthinternational.com/ncmprint.aspx?type=news&param=22341
 

Summary:  1/16/09 10:27 AMSpontaneous gene mutations linked to non-familial schizophrenia Page 1 of 2http... ://www.patienthealthinternational.com/ncmprint.aspx?type=news¶m=22341 Home News & feature articles 19 June 2008 Spontaneous gene mutations linked to non... -familial schizophrenia MedWire News: ...

  

Source: 

 

Collection: Biology and Medicine

 
28 Mathematical Genetics Lecture Topics Bob Griffiths, Oxford University
 

Summary:  the ancestry of a population or a sample of genes; the distribution of mutant genes and the age of a mutation... and Coalescent trees (i) DNA sequences and the infinitely-many-sites model. (ii) Mutation histories, gene trees... in Mathematical Genetics will cover diffusion process models ...

  

Source: Biggins, J.D.- Department of Probability and Statistics, University of Sheffield

 

Collection: Mathematics

 
29 Genome evolution evolvabily, big-bangs and other generic
 

Summary:  that no more than 7 mutations expected · changes in gene expression make "sense" with respect to adaptation... of evolvability mutational dynamics · gene duplication; gene deletion. · transposon duplication; · transposon... and Hogeweg MBE 2007 #12;mutations ...

  

Source: Utrecht, Universiteit - Departement Biologie, Theoretical Biology/Bioinformatics Group

 

Collection: Biology and Medicine

 
30 doi: 10.1046/j.1529-8817.2003.00072.x Quantifying the Intragenic Distribution of Human
 

Summary:  vary in their roles regarding overall gene function, the ability for a mutation in a gene region... functional domains by using (1) sets of single nucleotide disease mutations for six genes (CFTR, TSC2, G6PD... , PAX6, RS1, and PAH) and (2) sets of polymorphic replacement and silent ...

  

Source: Kumar, Sudhir - Department of Biology, Arizona State University

 

Collection: Biology and Medicine

 
31 Somatic Mutation: Early Cancer Steps Depend on Tissue Architecture
 

Summary:  mutated gene in human cancers [14]. p53 appears to be a transcription factor that regulates a variety... acquire one standard mutation to TSP and a mutation to a care- taker gene that raises the rate... of heterozygosity [3]. I have mentioned many parameters: ...

  

Source: Frank, Steven A. - Department of Ecology and Evolutionary Biology, School of Biological Sciences, University of California, Irvine

 

Collection: Environmental Sciences and Ecology ; Biology and Medicine

 
32 Origin of genetic variation Classes of mutations
 

Summary:  1 Origin of genetic variation mutation #12;2 Classes of mutations Point mutation Transition... for pyrimidine Missense Synonymous Insertion/Deletion ­ "indels" Frameshift mutation Chromosomal mutations... (structure and/or number, affect 1 or more genes) 1) ...

  

Source: Dever, Jennifer A. - Biology Department, University of San Francisco

 

Collection: Biology and Medicine ; Environmental Sciences and Ecology

 
33 Variation in Mutation Rate along Yeast Chromosome VI Greg I. Lang and Andrew W. Murray
 

Summary:  between gene dispensibility and its location within high or low mutation rate regions of Chromosome VI... Variation in Mutation Rate along Yeast Chromosome VI Greg I. Lang and Andrew W. Murray Department... of evolution such as mutation rate. We tested the hypothesis that mutation rate is ...

  

Source: Lang, Greg - Lewis-Sigler Institute for Integrative Genomics, Princeton University

 

Collection: Biology and Medicine

 
34 Muller's ratchet in multigene families with gene conversion Proposer: Alison Etheridge and Jay Taylor
 

Summary:  Muller's ratchet in multigene families with gene conversion Proposer: Alison Etheridge and Jay... - bination is either absent or ineffective (e.g., because of inbreeding). Because mutations are more likely... to be harmful than beneficial, most individuals will carry some number of deleterious mutations. Whereas

  

Source: Goldschmidt, Christina - Department of Statistics, University of Warwick

 

Collection: Mathematics

 
35 HNF1 inactivation promotes hepatic lipogenesis HNF1 INACTIVATION PROMOTES LIPOGENESIS IN HUMAN
 

Summary:  analysis of the observed deregulated genes in non-HNF1- mutated HCA as well as in non-tumor livers allowed... germline mutations in the gene encoding HNF1 (TCF1) are responsible for an autosomal dominant form of non... suppressor gene involved in human liver tumorigenesis, since we found ...

  

Source: Ecole Polytechnique, Centre de mathématiques

 

Collection: Mathematics

 
36 Applied Toxicology Carcinogensis
 

Summary:  in both copies of the gene. For oncogenes a mutation in a single allelle is usually sufficient to enhance... results in mutations in the regulatory sequences of the c-myc gene. In all cases the c-myc gene... to oncogenes is by point mutations. The ras ...

  

Source: Kane, Andrew S. - Aquatic Pathobiology Center & Department of Veterinary Medicine, University of Maryland at College Park

 

Collection: Biology and Medicine

 
37 The DNA sequence of human chromosome 7
 

Summary:  . Mutational and functional analyses reveal that ST7 is a highly conserved tumor-suppressor gene on human... , primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated... initial analyses have identified 1,150 protein-coding genes, 605 of which have been ...

  

Source: Brent, Michael R. - Department of Computer Science and Engineering, Washington University in St. Louis; Eddy, Sean - Janelia Farm Research Campus, Howard Hughes Medical Institute

 

Collection: Biology and Medicine ; Biotechnology ; Engineering

 
38 Mutations & DNA Repair I. What are Mutations?
 

Summary:  /gametic mutation ­ #12;4 B. Mutational outcomes 1) Silent substitution ­ function of the protein product of gene... of translation Geneticists Use Mutations to Identify Genes and Study Gene Function · Mutation is usually a non... throughout ...

  

Source: Dever, Jennifer A. - Biology Department, University of San Francisco

 

Collection: Biology and Medicine ; Environmental Sciences and Ecology

 
39 Thursday Nov. 17 Quiz 4 answers
 

Summary:  ,bacteria) - Extensions to Mendelian Genetics - Gene mutation - Chromosome mutation (- Quantitative and population... genetics) B2900 Mutation Source of genetic variation: Gene Mutation - somatic, germinal... .62 % 50 % Mutations Causing ...

  

Source: Innes, David J. - Department of Biology, Memorial University of Newfoundland

 

Collection: Environmental Sciences and Ecology

 
40 RESEARCH COMMUNICATION Identification of genes
 

Summary:  RESEARCH COMMUNICATION Identification of genes that protect the C. elegans genome against mutations... mutator genes are causally in- volved in many hereditary and sporadic human cancers, it is likely... loss-of-function mutations in a limited number of genes are ...

  

Source: Ahringe, Julie - Wellcome Trust/Cancer Research UK Gurdon Institute, University of Cambridge

 

Collection: Biology and Medicine


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41 John Y. Kuwada Dept. of Molecular, Cellular and Developmental Biology,
 

Summary:  (the apex of excitement in American football) that arises from mutations in the gene encoding... __________________________________________________________________________________________ Forward genetic analysis of behavior in zebrafish can be useful for identification of genes important... localization of acetylcholine ...

  

Source: Miyashita, Yasushi - Department of Physiology, University of Tokyo

 

Collection: Biology and Medicine

 
42 Human-specific transcriptional regulation of CNS development genes by FOXP2
 

Summary:  of these genes have a critical role in cerebellar function, it is of note that patients with FOXP2 mutations have... uncovered genes that are differentially regulated upon mutation of these two amino acids, including some... , A. P. A forkhead- domain gene is mutated ...

  

Source: Preuss, Todd M. - Yerkes National Primate Research Center, Emory University

 

Collection: Biology and Medicine

 
43 Poster reference number: KING.957368734 INDIRECT SELECTION ON THE MUTATIONAL LANDSCAPE
 

Summary:  repeats may have evolved by indirect selection to function as mutationally adjustable regulators of gene... . An evolved role for repetitive, microsatellite DNA in mutational modification of gene regulation is suggested... on gene expression but also its particular rate and typical size ...

  

Source: King, David G. - Department of Zoology, Southern Illinois University

 

Collection: Environmental Sciences and Ecology ; Biology and Medicine

 
44 Genetic Mutation 1 The Concept of Genetic Point Mutations1
 

Summary:  in about 1 out of a million copies of a gene. The actual rate is somewhat higher since some mutations... Phenotypic Effects: Substitutions (Point Mutations): In this case, a single base pair within a gene becomes... . Frameshift mutations are truly devastating and usually result in a ...

  

Source: Prestwich, Ken - Biology Department, College of the Holy Cross

 

Collection: Environmental Sciences and Ecology ; Biology and Medicine

 
45 Sample Questions Neutral Theory 1. Motoo Kimura intended the Neutral Theory to honor Sewall Wright. What
 

Summary:  Neutral theory after? A. Natural Selection B. Mutation C. Genetic Drift D. Gene... Flow E. Inbreeding F. Sexual Selection G. Gene Duplication 2. Which school... by the probability that a new mutation will arise? A. Time B. ...

  

Source: Jackman, Todd - Biology Department, Villanova University

 

Collection: Environmental Sciences and Ecology ; Biology and Medicine

 
46 DNA Mutation Found in Patients with Non-Inherited Schizophrenia | ThirdAge http://www.thirdage.com/news/dna-mutation-found-in-patients-with-non-inherited-schizophrenia_08-08-2011[8/10/2011 11:08:20 AM]
 

Summary:  others did not. The researchers found that mutations in 40 genes were linked to schizophrenia. Lead... researcher Dr. Maria Karayiorgou told BBC News: "The fact that the mutations are all from different genes... DNA Mutation Found in Patients with Non-Inherited Schizophrenia | ThirdAge ...

  

Source: 

 

Collection: Biology and Medicine

 
47 Evaluation form for Oral Presentation Excellent,astrongpoint
 

Summary:  why these mutations are maintained in the population? Is this gene only expressed in certain cell... forms? Genetics Have they identified all the genes are associated with this disease? What specific... mutations are associated with inheritance of this disease? Do we know if these are gain or loss of ...

  

Source: Lycan, Deborah E. - Department of Biology, Lewis and Clark College

 

Collection: Biology and Medicine

 
48 I. Multiple Choice: choose onebest answer(2.5 points each, 80 points) 1.The effects of transposons can include
 

Summary:  to A. a mutation in one of the gene whose product catalyzes recombination. B. a mutation suppresses... . A temperature sensitive mutant refers to A. a mutation of one of anti-freeze genes. B. a mutation of one... of the heat-shock genes. C. a ...

  

Source: Huang, Haimei - Department of Life Science, National Tsing Hua University

 

Collection: Biology and Medicine

 
49 Copyright 1998 by the Genetics Society of America Selfish Genes, Pleiotropy and the Origin of Recombination
 

Summary:  descendants that are linked to beneficial mutations onlong as some are linked to good genes, then the gene has... that for a gene with a mutation that isnarrative version follows a more rigorous quantitative model (Otto... or tendency, but that is expected to be weak I or MI, in which ...

  

Source: Hey, Jody - Department of Genetics, Rutgers University

 

Collection: Biology and Medicine ; Environmental Sciences and Ecology

 
50 GeneTracer: Gene Sequence Analysis of Disease Mutations VAST 2010 Mini Challenge 3 Award: Excellent Process Explanation
 

Summary:  GeneTracer: Gene Sequence Analysis of Disease Mutations VAST 2010 Mini Challenge 3 Award: Excellent... that led to particular characteristics and mutations. The provided data included the gene sequences from... these interactive steps, we could see the patterns of ...

  

Source: Stasko, John T. - College of Computing, Georgia Institute of Technology

 

Collection: Computer Technologies and Information Sciences

 
51 <i>De novo</i> Gene Mutations Tied to Sporadic Schizophrenia --Doctors Lounge http://www.doctorslounge.com/index.php/news/pb/22187[8/9/2011 10:05:53 AM]
 

Summary:  De novo Gene Mutations Tied to Sporadic Schizophrenia --Doctors Lounge http... : Pathology | Psychiatry | Journal Back to Journal Articles De novo Gene Mutations Tied to Sporadic... mutations, including a disruptive mutation in DGCR2 ...

  

Source: 

 

Collection: Biology and Medicine

 
52 Molecular Evolution: Patterns and Rates
 

Summary:  - lymerases, and this might contribute to the higher mutation rate in mitochondrial genes than in nuclear... (pseudogenes). Mutations within functional genes might also be neutral if they are `silent' ­ the DNA sequence... is a subsample of the gene pool of the previous generation. We ...

  

Source: Australian National University, Centre for Macroevolution and Macroecology

 

Collection: Environmental Sciences and Ecology ; Biology and Medicine

 
53 Effects of Intra-gene Fitness Interactions on the Benefit of Sexual Recombination
 

Summary:  effect of a mutation in that gene, whereas epistatic interactions between sites in different genes... of recombination (e.g. 1, 2, 3, 4) assume that the alleles of a gene are mutational neighbours and thus the space... of the protein that it codes for, the proper functioning of that ...

  

Source: Wakeley, John -Department of Organismic and Evolutionary Biology, Harvard University

 

Collection: Environmental Sciences and Ecology ; Biology and Medicine

 
54 BIOLOGICAL FRAMEWORKS FOR ENGINEERS Session #8 [nm: Genes, Decoding, and Mutations]
 

Summary:  ME498/599 BIOLOGICAL FRAMEWORKS FOR ENGINEERS Session #8 [nm: Genes, Decoding, and Mutations... Interactive Activity: Worksheet on mutation Session Outline: I. Genes II. Decoding A. Restriction... for mutations Central Framework: Decoding genetic information is technology driven and ...

  

Source: Sniadecki, Nathan J. - Department of Mechanical Engineering, University of Washington at Seattle

 

Collection: Biology and Medicine ; Engineering

 
55 Intragenic Suppressing Mutations Correct the Folding and Intracellular Traffic of Misfolded Mutants of Yor1p, a
 

Summary:  ), and ABCB4 (28), respec- tively. However, the exact nature of the folding lesions that trigger the quality... mutations, perhaps in mitochondrial genes or other drug exporters, may have contributed to oligomycin... . The entire YOR1 gene was sequenced in the validated plasmids to ...

  

Source: Miller, Liz - Department of Biological Sciences, Columbia University

 

Collection: Biology and Medicine

 
56 Research Focus Genetic instability of C. elegans comes naturally
 

Summary:  that the deleterious mutation rate per haploid genome (Um) in protein coding genes is w0.5, and that there must... Mains Road, Edinburgh, UK EH9 3JT There have been many attempts to measure the genome-wide mutation rate... for spontaneous mutations, using measurements of traits in inbred lines in which ...

  

Source: Keightley, Peter - School of Biological Sciences, University of Edinburgh

 

Collection: Environmental Sciences and Ecology

 
57 JOURNAL OF BACTERIOLOGY, Sept. 1995, p. 53685369 Vol. 177, No. 18 0021-9193/95/$04.00 0
 

Summary:  1995, American Society for Microbiology The Distance between Escherichia coli Genes Is Related to Gene... Escherichia coli genes oriented in the same direction on the chromo- some is positively correlated... to the expression level of the downstream gene. It is suggested that this could be a strategy to ...

  

Source: Eyre-Walker, Adam - Department of Biology and Environmental Science, University of Sussex

 

Collection: Biology and Medicine

 
58 Discovery Medicine, Volume 4, Number 24, Pages 396-400, December 2004 single inherited mutant gene may be enough to
 

Summary:  gene may be enough to cause a very high cancer risk. Single-mutation cases have provided much insight... cancers. Examples include mutation to the APC gene, causing early onset colon cancer in the syndrome... 2 genes, causing an increased risk of breast cancer; and ...

  

Source: Frank, Steven A. - Department of Ecology and Evolutionary Biology, School of Biological Sciences, University of California, Irvine

 

Collection: Environmental Sciences and Ecology ; Biology and Medicine

 
59 Incomplete dominance for flower colour in Mirabilis jalapa R1 Red pigment
 

Summary:  's consider our mutant1 and mutant 3. Mutant 1 has a mutation in a gene A making it recessive a1. Mutant 3 has... a mutation in a different gene B, making it a recessive b. Genotypically our true breeding mutant 1 is a1a1BB... it is an allele of the same gene as mutant 1. So we'll call ...

  

Source: Shore, Joel S. - Department of Biology, York University (Toronto)

 

Collection: Biology and Medicine

 
60 PressTV -Genetic mutations cause schizophrenia http://www.presstv.com/detail/192950.html[8/10/2011 10:55:34 AM]
 

Summary:  that new protein-altering gene mutations are associated with more than 50 percent of non... -hereditary or sporadic schizophrenia cases. A new genetic study revealed that these gene mutations, called "de novo... that the mutations are all from different genes is ...

  

Source: 

 

Collection: Biology and Medicine


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61 Mendelian Genetics -Transmission of DNA during cell division
 

Summary:  to Mendelian Genetics - Gene mutation - Chromosome mutation 2 Mutation Sourceofgeneticvariation... : Gene Mutation - somatic,germinal Chromosome mutations (Ch. 11) - structure - number 3 Chromosome... 25 Downs Births per 1000 27 28 ...

  

Source: Innes, David J. - Department of Biology, Memorial University of Newfoundland

 

Collection: Environmental Sciences and Ecology

 
62 Perspective MutatorPhenotypeinCancer: Timing and Perspectives
 

Summary:  , manifested by mutations in genes encoding enzymes that correct errors in DNA synthesis, the associated colon... sequences between genes (microsatellites) [Stoler et al., 1999]. Mutations in microsatellites should... frequently result in frameshift mutations and therefore inactivate ...

  

Source: Bielas, Jason H. - Bielas, Jason H. - Public Health Sciences, Fred Hutchinson Cancer Research Center, University of Washington at Seattle

 

Collection: Biology and Medicine

 
63 Role of Duplicate Genes in Robustness against Deleterious Human Mutations
 

Summary:  Role of Duplicate Genes in Robustness against Deleterious Human Mutations Tzu-Lin Hsiao1,2 , Dennis... investigate in detail the contribution of gene duplicates to back-up against deleterious human mutations. Our... to harbor known disease mutations compared to genes ...

  

Source: Vitkup, Dennis - Center for Computational Biology and Bioinformatics & Department of Biomedical Informatics, Columbia University

 

Collection: Biotechnology ; Environmental Sciences and Ecology

 
64 Copyright 2008 by the Genetics Society of America DOI: 10.1534/genetics.108.090936
 

Summary:  -of-function mutations. Here we show in both humans and yeast that haploinsufficient genes generally do not duplicate... hormone gene that have dominant-negative effects, because the mutated hormone competitively binds... -causing mutation does not completely abolish the ...

  

Source: Zhang, Jianzhi - Department of Ecology and Evolutionary Biology, University of Michigan

 

Collection: Biology and Medicine

 
65 Cancers Exhibit a Mutator Phenotype: Clinical Implications Lawrence A. Loeb,
 

Summary:  that in normal cells). We consider the following points: (a) Mutations in genes that govern genetic stability... number of new sets of genes that function in guaranteeing genetic fidelity (5), the mutator phenotype... proposed that there is a sequential and uniform order of mutations in ...

  

Source: Bielas, Jason H. - Bielas, Jason H. - Public Health Sciences, Fred Hutchinson Cancer Research Center, University of Washington at Seattle

 

Collection: Biology and Medicine

 
66 HUMAN MUTATION 18:87100 (2001) 2001 WILEY-LISS, INC.
 

Summary:  of the same gene. In some cases, a single mutation may dominate in frequency, the F508 muta- tion, for example... . Several studies aimed at reconstructing gene genealogies underlying specific mutations have used distance... phylogenetic #12;92 RANNALA AND BERTORELLE approaches for inferring ...

  

Source: Bertorelle, Giorgio - Department of Biology, Università di Ferrara

 

Collection: Biology and Medicine

 
67 Schizophrenia Genetics Revealed | The Scientist http://the-scientist.com/2011/08/08/schizophrenia-genetics-revealed/[8/9/2011 10:03:33 AM]
 

Summary:  of the schizophrenia patients, they identified 40 new mutations in 40 different genes, including one in DGCR2, a gene... that the mutations are all from different genes is particularly fascinating," lead researcher Maria Karayiorgou... contribute to schizophrenia." The reason so many ...

  

Source: 

 

Collection: Biology and Medicine

 
68 The phenomenon of incomplete penetrance --whereby organisms
 

Summary:  therefore be induced even by mutations in genes with specific functions -- and not necessarily globally... muta- tion on its gene-network properties. By using a single-mRNA counting method during Caenorhabditis... elegans development, the authors show that such mutations can com- promise the buffering ...

  

Source: van Oudenaarden, Alexander - Department of Physics, Massachusetts Institute of Technology (MIT)

 

Collection: Biology and Medicine ; Physics

 
69 A survey of integral a-helical membrane proteins Libusha Kelly Ursula Pieper Narayanan Eswar
 

Summary:  of the B family, such as ABCB4 (MDR3) and ABCB11 (BSEP), are associated with multidrug resistance in cancer... therapy. ABCB4 and ABCB11 are also associ- ated with several forms of cholestasis [13]. Our collabo... as in the human transporters ABCB1, ABCB11 and ABCB4 ...

  

Source: Sali, Andrej - Department of Biochemistry and Biophysics, University of California at San Francisco

 

Collection: Biology and Medicine ; Biotechnology

 
70 Human disease genes: patterns and predictions Nick G.C. Smitha,*, Adam Eyre-Walkerb
 

Summary:  Received by W. Makalowski Abstract We compared genes at which mutations are known to cause human disease... at which mutations are known to cause genetic disease in humans (termed disease genes) relative to those... of substitution in those genes (e.g., because of negative selection; see ...

  

Source: Eyre-Walker, Adam - Department of Biology and Environmental Science, University of Sussex

 

Collection: Biology and Medicine

 
71 Applied Toxicology Carcinogensis
 

Summary:  mutations to key regulatory genes or through inheritance. DNA repair must be circumvented for this to occur... . Normal cells acquire basic genetic damage via somatic mutations to key regulatory genes or through... . Damage to DNA repair genes is a major predisposition factor leading to ...

  

Source: Kane, Andrew S. - Aquatic Pathobiology Center & Department of Veterinary Medicine, University of Maryland at College Park

 

Collection: Biology and Medicine

 
72 Degradation of the Bile Salt Export Pump at Endoplasmic Reticulum in Progressive Familial
 

Summary:  version of this article. 1558 #12;caused by mutations in the genes encoding FIC I (ATP8B1) and MDR3 (ABCB4... at the canalicular membrane of hepatocytes. When examined in model cell lines, genetic mutations in the BSEP gene... into three sub- types. One of these ...

  

Source: Hochstrasser, Mark - Department of Molecular Biophysics and Biochemistry, Yale University

 

Collection: Biology and Medicine

 
73 Neutral Mutations and Neutral Substitutions in Bacterial Genomes Howard Ochman
 

Summary:  to an experimental assessment of their mutation rates. Microbial evolutionists are not so lucky: the high gene... in a diverse set of genes from around the genome. The Comparative Approach to Studying Mutation Rates Examining... recombinational repair or biased gene conversion arising ...

  

Source: Ochman, Howard - Department of Ecology and Evolutionary Biology, Yale University

 

Collection: Environmental Sciences and Ecology ; Biology and Medicine

 
74 DNA mutation and repair Mechanisms of DNA mutation
 

Summary:  that cause mutations, and generation times are shorter, fixing mutant alleles in population faster-so genes... DNA mutation and repair Mechanisms of DNA mutation I. Evolution depends on mutation; viability... depends on repair II. Tautomeric shift creates transitions III. Frameshift ...

  

Source: Lycan, Deborah E. - Department of Biology, Lewis and Clark College

 

Collection: Biology and Medicine

 
75 Copyright 2005 by the Genetics Society of America DOI: 10.1534/genetics.104.039016
 

Summary:  a generalization of Kacser and Burns' theory to nonenzyme genes or a new theory. MOST major-effect mutations... of their theory would hold for mutations in genes whose products have ``quasicata- lytic'' activity, for which... . To the extent that mutations in nonenzyme ...

  

Source: Bi, Xin - Department of Biology, University of Rochester

 

Collection: Biology and Medicine

 
76 Clinical Features: Mutations in GJB2 [OMIM#121011] are typically characterized by congenital, non-syndromic, and non-
 

Summary:  mutations in the gene GJB2 [4]. GJB2 mutations occur in 50% of families in the United States... gene analysis of both exons of GJB2. In addition, samples from individuals heterozygous for a mutation... in the gene will be analyzed for the 342 kb deletion in GJB6. ...

  

Source: Das, Soma - Department of Human Genetics, University of Chicago

 

Collection: Biology and Medicine

 
77 Clinical Features: Mutations in GJB2 [OMIM#121011] are typically characterized by congenital, non-syndromic, and non-
 

Summary:  mutations in the gene GJB2 [4]. GJB2 mutations occur in 50% of families in the United States... gene analysis of both exons of GJB2. In addition, samples from individuals heterozygous for a mutation... in the gene will be analyzed for the 342 kb deletion in GJB6. ...

  

Source: Gilad, Yoav - Department of Human Genetics, University of Chicago

 

Collection: Biology and Medicine

 
78 Fixation of a Gene by Drift is Unlikely in Large Populations, neither Identity by Descent nor Identity by Type
 

Summary:  that there is a common ancestor of the entire gene) and compute the probability that no mutation occurred since... by type to essentially 0. If there are introns within a gene, that will not effect the mutation rate... = 106 , 1000 base pairs in a gene, frequency of ...

  

Source: Campbell, Russell Bruce - Department of Mathematics, University of Northern Iowa

 

Collection: Mathematics

 
79 Genetic mutations cause schizophrenia -Times Of India http://articles.timesofindia.indiatimes.com/2011-08-08/health/29863906_1_mutations-schizophrenia-genetic-basis[8/9/2011 10:00:40 AM]
 

Summary:  different genes and most of them protein-altering. They found 40 mutations, all from different genes... 1, 2009 Gene mutation linked to schizophrenia February 3, 2011 Docs zoom into cancer genetics March... and function, she added. The fact that the mutations are all ...

  

Source: 

 

Collection: Biology and Medicine

 
80 Reprinted from Molecular Strategies in Biological Evolution Volume 870 of the Annals of the New YorkAcademy of Sciences
 

Summary:  of genes of DNA metabolism,for example,those of mismatch repair, affect the global mutation rate... selectionchallengesthat may be frequent or infrequent involvesthe ability of a potential mutator gene to acquire alleles... or mistranslation of genes whose products are involved in the ...

  

Source: Magnasco, Marcelo Osvaldo - Laboratory of Mathematical Physics, Rockefeller University

 

Collection: Physics


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81 Clinical Features and Molecular Genetics: Mutations in the ARX gene have been identified in patients with X-linked lissencephaly with ambiguous genitalia
 

Summary:  3/10 Clinical Features and Molecular Genetics: Mutations in the ARX gene have been identified... suggest that about 100% of patients with a clinical diagnosis of XLAG have mutations in the ARX gene [1... and MRX may have mutations in the ARX gene [2,3]. Test methods: ...

  

Source: Das, Soma - Department of Human Genetics, University of Chicago

 

Collection: Biology and Medicine

 
82 Microarray Experiments and Abductive Inference of Pathways
 

Summary:  Experiment A A BB Experiment: gene mutation/environmental stress increases_expression(Experiment, Gene... ). Experimental Consistency: False: intermediary_gene(E,G1,G2), mutates(E,G2), not affects(E,G1). #12;M... ALP #12;Overview Biological Pathways & Microarrays Abductive Model for ...

  

Source: Moraitis, Pavlos - UFR de Mathématiques et Informatique, Université René Descartes

 

Collection: Computer Technologies and Information Sciences

 
83 Journal of Theoretical Biology 223 (2003) 405412 Somatic mosaicism and cancer: inference based on a conditional
 

Summary:  February 2003; accepted 7 March 2003 Abstract Somatic mosaicism for mutations in disease-causing genes has... in a lifetime. With a mutation rate of roughly 10À7 ­10À6 per gene per cell division, each gene is mutated... of their cells mutated ...

  

Source: Frank, Steven A. - Department of Ecology and Evolutionary Biology, School of Biological Sciences, University of California, Irvine

 

Collection: Environmental Sciences and Ecology ; Biology and Medicine

 
84 Computational analysis of disease-related mutation effects on transcription factor binding
 

Summary:  , Finland Motivation Point mutation in gene regulatory regions ·Change in transcription factor (TF) binding... levels Figure 1: a) A point mutation in promoter of -globin gene weakens the binding affinity of TF GATA... -1 [1]. b) A new TF binding site for TF SPI1 is caused by a point ...

  

Source: Yli-Harja, Olli - Institute of Signal Processing, Tampere University of Technology

 

Collection: Computer Technologies and Information Sciences

 
85 Current Biology, Vol. 13, 581584, April 1, 2003, 2003 Elsevier Science Ltd. All rights reserved. DOI 10.1016/S0960-9822(03)00172-6 Local Regulation of Homeostasis
 

Summary:  of a multicellular organism, and de-tions in tumor suppressor genes or oncogenes. Such mutated cells can have... . Cells with mutations conferring cerous state through inactivation of both alleles of a TSP gene... with two functioning alleles of the TSP gene,producing deleterious ...

  

Source: NONE; Nowak, Martin A. - Department of Organismic and Evolutionary Biology, Harvard University

 

Collection: Biology and Medicine ; Environmental Sciences and Ecology

 
86 CHARGE syndrome: Coloboma Heart defect
 

Summary:  %. Molecular Genetics: Microdeletions, identifiable by FISH analysis, and mutations of the CHD7 gene have... without microdeletions were found to have heterozygous mutations in CHD7. This gene is a member... identified in the CHD7 gene including nonsense mutations, ...

  

Source: Das, Soma - Department of Human Genetics, University of Chicago

 

Collection: Biology and Medicine

 
87 CHARGE syndrome: Coloboma Heart defect
 

Summary:  %. Molecular Genetics: Microdeletions, identifiable by FISH analysis, and mutations of the CHD7 gene have... without microdeletions were found to have heterozygous mutations in CHD7. This gene is a member... identified in the CHD7 gene including nonsense mutations, ...

  

Source: Gilad, Yoav - Department of Human Genetics, University of Chicago

 

Collection: Biology and Medicine

 
88 High frequency of hotspot mutations in core genes of Escherichia coli due to short-term positive selection
 

Summary:  High frequency of hotspot mutations in core genes of Escherichia coli due to short-term positive... frequency of mutated genes and mutations per genome than pathogenic strains. E. coli strains causing extra... genes has been found among Shigella isolates, suggesting ...

  

Source: Minin, Vladimir - Department of Statistics, University of Washington at Seattle

 

Collection: Biology and Medicine ; Mathematics

 
89 Clinical Features: Permanent neonatal diabetes: Neonatal diabetes is hyperglycemia that presents at 0-6 months of age
 

Summary:  : Permanent neonatal diabetes: Mutations of the KCNJ11 [OMIM #600937] gene have been identified in patients... of infancy (HI): Mutations of the KCNJ11 gene have also been identified in patients with HI [4... Jan 2011. 3. Gloyn AL, et al. "Activating mutations in the ...

  

Source: Ober, Carole - Committee on Genetics & Department of Human Genetics, University of Chicago

 

Collection: Biology and Medicine

 
90 Current Biology 16, 15811590, August 22, 2006 2006 Elsevier Ltd All rights reserved DOI 10.1016/j.cub.2006.06.070 Ploidy Controls the Success
 

Summary:  of mutations occurred within a single physiological path- way and possibly within a single gene. We used DNA... of mutations in different genes, explaining why cancers that arise from different forms of genetic in... .cub.2006.06.070 Article Ploidy Controls the Success of Mutators and ...

  

Source: Desai, Michael - Department of Organismic and Evolutionary Biology, Harvard University; Murray, Andrew W. - Department of Molecular and Cellular Biology, Harvard University

 

Collection: Biology and Medicine

 
91 Cellular Oncology 29 (2007) 7172 71 Letter to the Editor
 

Summary:  mutating genes, generate neoplastic and preneoplastic phenotypes at high rates. An editorial accompanying... of mutation would be able to alter phenotypes at rates that exceed conventional gene mutations 4­11 orders... for such mutator genes. ...

  

Source: Duesberg, Peter - Department of Molecular and Cell Biology, University of California at Berkeley

 

Collection: Biology and Medicine

 
92 Single-base Mutation Dan Graur, Tel Aviv University, Tel Aviv, Israel
 

Summary:  silent mutations in a protein-coding gene are synonymous. Nonsynonymous or amino acid-altering mutations... in the b-globin gene from a normal individual and a patient with b -thalassemia, the mutated nucleotide... Single-base Mutation Dan Graur, Tel Aviv University, ...

  

Source: Graur, Dan - Department of Biology and Biochemistry, University of Houston

 

Collection: Biology and Medicine ; Environmental Sciences and Ecology

 
93 The altered evolutionary trajectories of gene duplicates
 

Summary:  after gene duplication. In prin- ciple, the chance accumulation of a sufficient number of such mutations... to be low for genes that have accumulated few mutations, and because the earliest mutations incurred... to reject the null hypothesis of equal rates, and with an expected 100 ...

  

Source: Lynch, Michael - Department of Biology, Indiana University

 

Collection: Biology and Medicine

 
94 Relative Contributions of Germline Gene Variation and Somatic Mutation to Immunoglobulin Diversity
 

Summary:  Relative Contributions of Germline Gene Variation and Somatic Mutation to Immunoglobulin Diversity... gene variation and somatic mutation to immunoglobulin diversity were studied by comparing germline gene... of three sets of H-chain (Vu, D, 1. Key words: immunoglobulin diversity, somatic ...

  

Source: Nei, Masatoshi - Department of Biology, Pennsylvania State University

 

Collection: Environmental Sciences and Ecology ; Biology and Medicine

 
95 Mutation rates in mammalian genomes Sudhir Kumar*
 

Summary:  to characterize the extent of mutation rate differences among genes in a genome and among diverse mammalian... lineages. We find that mutation rate is approximately constant per year and largely similar among genes... have examined the null hypotheses of uniformity of neutral mutation ...

  

Source: Kumar, Sudhir - Department of Biology, Arizona State University

 

Collection: Biology and Medicine

 
96 INVESTIGATION The Balance Between Mutators and Nonmutators in
 

Summary:  -repair genes. These mutators gradually accumulate deleterious mutations, limiting their spread. However... in mis- match-repair genes, and if these additional mutations reach high frequency along... horizontal gene transfer from nonmutators, partic- ularly since ...

  

Source: Desai, Michael - Department of Organismic and Evolutionary Biology, Harvard University

 

Collection: Biology and Medicine

 
97 The fate of duplicated genes: loss or new function?
 

Summary:  divergence versus gene loss? Given that most non-neutral mutations are deleteri- ous, gene loss should be far... mutations. Thus, as long as one duplicate gene functions normally, the other may go the more likely route... the low rate of gene loss? Assuming that ...

  

Source: Wagner, Andreas - Department of Biochemistry, Universität Zürich

 

Collection: Biology and Medicine

 
98 TOWARD DISCOVERING DISEASE-SPECIFIC GENE NETWORKS FROM ONLINE LITERATURE
 

Summary:  diseases are the result of abnormal interactions between multiple genes instead of single gene mutations... from relevant documents from Medline, gene interaction and mutation information related to complex... that parses the vast Medline database to extract potentially relevant ...

  

Source: Wong, Limsoon - Department of Computational Science, National University of Singapore

 

Collection: Computer Technologies and Information Sciences

 
99 Information for Genetics Professionals Clinical Features
 

Summary:  % of these cases are due to de novo mutations of the MTM1 gene [10]. Recurrence risk for a carrier female is 50% (1... be caused by mutations in at least three genes, including MTM1, DNM2 and BIN1. XLMTM is caused by mutations... -associated mutations have been ...

  

Source: Das, Soma - Department of Human Genetics, University of Chicago

 

Collection: Biology and Medicine

 
100 Information for Genetics Professionals Clinical Features
 

Summary:  % of these cases are due to de novo mutations of the MTM1 gene [10]. Recurrence risk for a carrier female is 50% (1... be caused by mutations in at least three genes, including MTM1, DNM2 and BIN1. XLMTM is caused by mutations... -associated mutations have been ...

  

Source: Gilad, Yoav - Department of Human Genetics, University of Chicago

 

Collection: Biology and Medicine


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