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1. Full Text Characteristics of Plant Essential Genes Allow for within- and between-Species Prediction of Lethal Mutant Phenotypes
by John P. Lloyd and Alexander E. Seddon and Gaurav D. Moghe and Matthew C. Simenc and Shin-Han Shiu
The Plant cell, ISSN 1040-4651, 8/2015, Volume 27, Issue 8, pp. 2133 - 2147
Datasets | Statistical median | Phenotypes | Essential genes | Lethal genes | Genes | Genomes | Plants | Modeling | LARGE-SCALE BIOLOGY ARTICLES | Rice | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Plant Sciences | Science & Technology | Cell Biology | Species Specificity | Gene Dosage | Support Vector Machine | Arabidopsis - genetics | Phenotype | Oryza - genetics | Genes, Plant - genetics | Genes, Lethal - genetics | Gene Expression Regulation, Plant | Mutation | Saccharomyces cerevisiae | Gene Ontology | Evolution, Molecular | Genes, Essential - genetics | Arabidopsis thaliana | Usage | Gene mutations | Machine learning | Genetic aspects | Observations | Index Medicus | Large-Scale Biology
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2. Full Text Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
by Holmans, Peter and Escott-Price, Valentina and Ripke, Stephan and Carrera, Noa and Bishop, Sophie and Cameron, Darren and Hamshere, Marian L and Lynham, Amy and Rees, Elliott and MacCabe, James H and Baune, Bernhard T and Byrne, Enda M and Dannlowski, Udo and Eley, Thalia C and Hayward, Caroline and Martin, Nicholas G and Porteous, David J and Wray, Naomi R and Caballero, Armando and Geschwind, Daniel H and Ruderfer, Douglas M and Santiago, Enrique and Stahl, Eli A and Won, Hyejung and Als, Thomas D and Andreassen, Ole A and Bækvad-Hansen, Marie and Mortensen, Preben Bo and Børglum, Anders D and Bybjerg-Grauholm, Jonas and Djurovic, Srdjan and Durmishi, Naser and Pedersen, Marianne Giørtz and Golimbet, Vera and Grove, Jakob and Hougaard, David M and Mattheisen, Manuel and Molden, Espen and Mors, Ole and Pejovic-Milovancevic, Milica and Hansen, Christine Søholm and Stefansson, Kari and Stefansson, Hreinn and Steinberg, Stacy and Tosato, Sarah and Werge, Thomas and Harold, Denise and Denning, Nicola and Thomas, Charlene and Taylor, Sarah and Powell, John and Proitsi, Petroula and Lupton, Michelle and Lovestone, Simon and Passmore, Peter and Craig, David and Todd, Stephen and Maier, Wolfgang and Heun, Reiner and Lacour, André and Drichel, Dmitriy and Nothen, Markus and Goate, Alison and Cruchaga, Carlos and Mayo, Kevin and O'Donovan, Michael and Owen, Michael and Williams, Julie and Böttger, Theresa Wimberly and Cohen, Dan and Curran, Sarah and Dempster, Emma and Dima, Danai and Flanagan, Robert J and Frangou, Sophia and Gasse, Christiane and Hannon, Eilis and Hartmann, Annette M and Heißerer, Barbara and Ingimarsson, Oddur and Jollie, Karel and Köhler, Ole and Lang, Maren and Lewis, Cathryn and MacCaba, James and McCrone, Paul and Meier, Sandra M and Mill, Jonathan and Nöthen, Markus M and Pedersen, Carsten B and Rietschel, Marcella and Rujescu, Dan and Sørensen, Holger J and Støvring, Henrik and Strohmaier, Jana and Sullivan, Patrick and Collier, David A and Kirov, George and O'Donovan, Michael C and Walters, James T. R and GERAD1 Consortium and CRESTAR Consortium
Nature genetics, ISSN 1061-4036, 03/2018, Volume 50, Issue 3, pp. 381 - 389
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Inheritance Patterns | Genetic Predisposition to Disease | Genome-Wide Association Study | Schizophrenia - genetics | Gene Frequency | Genes, Lethal - genetics | Humans | Alleles | Selection, Genetic | Polymorphism, Single Nucleotide | Genetic Loci | Case-Control Studies | Brain | Mental disorders | Genes | Genomics | Schizophrenia | Mapping | Genomes | Biology | Datasets | Psychosis | Consortia | Population | Bioinformatics | Life expectancy | Mortality | Brain mapping | Data processing | Gene expression | Loci | Quality of life | Meta-analysis | Studies | Hypotheses | Life span | Diabetes | Mutation | Gene mapping | Alzheimers disease | Conformation | Index Medicus | Medicin och hälsovetenskap
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3. Full Text The novel p.Ser263Phe mutation in the human high‐affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome
by Banerjee, Mayukh and Arutyunov, Denis and Brandwein, Daniel and Janetzki‐Flatt, Cassandra and Kolski, Hanna and Hume, Stacey and Leonard, Norma Jean and Watt, James and Lacson, Atilano and Baradi, Monica and Leslie, Elaine M and Cordat, Emmanuelle and Caluseriu, Oana
Human mutation, ISSN 1059-7794, 10/2019, Volume 40, Issue 10, pp. 1676 - 1683
SLC5A7 | fetal akinesia syndrome | high‐affinity choline transporter 1 | congenital myasthenia syndrome | autosomal recessive | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Myasthenic Syndromes, Congenital - genetics | Gene Expression | Myasthenic Syndromes, Congenital - diagnosis | Humans | Genotype | Infant | Male | Symporters - chemistry | Symporters - metabolism | Genes, Lethal | Phenotype | El Salvador | Pedigree | Symporters - genetics | Alleles | Fatal Outcome | Protein Domains | Female | Consanguinity | Mutation | Infant, Newborn | Amino Acid Substitution | Phenotypes | Genetic counseling | Akinesia | Sodium | Congenital defects | Fetuses | Choline | Neuromuscular junctions | Affinity | Myasthenia | Genotypes | Index Medicus
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4. Full Text Modeling Rett Syndrome Using TALEN-Edited MECP2 Mutant Cynomolgus Monkeys
by Chen, Yongchang and Yu, Juehua and Niu, Yuyu and Qin, Dongdong and Liu, Hailiang and Li, Gang and Hu, Yingzhou and Wang, Jiaojian and Lu, Yi and Kang, Yu and Jiang, Yong and Wu, Kunhua and Li, Siguang and Wei, Jingkuan and He, Jing and Wang, Junbang and Liu, Xiaojing and Luo, Yuping and Si, Chenyang and Bai, Raoxian and Zhang, Kunshan and Liu, Jie and Huang, Shaoyong and Chen, Zhenzhen and Wang, Shuang and Chen, Xiaoying and Bao, Xinhua and Zhang, Qingping and Li, Fuxing and Geng, Rui and Liang, Aibin and Shen, Dinggang and Jiang, Tianzi and Hu, Xintian and Ma, Yuanye and Ji, Weizhi and Sun, Yi Eve
Cell (Cambridge), ISSN 0092-8674, 05/2017, Volume 169, Issue 5, pp. 945 - 955.e10
MECP2 | non-human primate | neurodevelopmental disorder | male embryonic lethal | Rett syndrome | disease models | gene editing | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Humans | Transcription Activator-Like Effector Nucleases - metabolism | Transcriptome | Macaca fascicularis | Male | Circadian Rhythm | Brain - physiology | Gene Editing | Methyl-CpG-Binding Protein 2 - genetics | Rett Syndrome - physiopathology | Chromosomes, Human, X | Magnetic Resonance Imaging | Animals | Pain | Sleep | Electrocardiography | Female | Mutation | Rett Syndrome - genetics | Disease Models, Animal | Medical research | Medical colleges | Animal behavior | Zoology | Stem cells | Primates | Medicine, Experimental | Models | Research institutes | Batteries | Index Medicus
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5. Full Text Mutation dynamics and fitness effects followed in single cells
by Robert, Lydia and Ollion, Jean and Robert, Jerome and Song, Xiaohu and Matic, Ivan and Elez, Marina
Science (American Association for the Advancement of Science), ISSN 0036-8075, 03/2018, Volume 359, Issue 6381, pp. 1283 - 1286
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genes, Lethal | Genetic Fitness | Escherichia coli - genetics | Single-Cell Analysis - methods | Mutation Rate | Mutation | DNA Mismatch Repair - genetics | Time-Lapse Imaging | Cell research | Research | Gene mutations | Escherichia coli | Nucleotide sequence | Fluorescence | Genomes | Mutation rates | Accumulation | Gene sequencing | DNA biosynthesis | E coli | Mismatch repair | Bacteria | Microfluidics | Deoxyribonucleic acid--DNA | Index Medicus | Life Sciences
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6. Full Text On association of the lethal yellow (AY) mutation in the agouti gene with the alterations in mouse brain and behavior
by Khotskin, Nikita V and Plyusnina, Alexandra V and Kulikova, Elizabeth A and Bazhenova, Ekaterina Y and Fursenko, Daryia V and Sorokin, Ivan E and Kolotygin, Ilia and Mormede, Pierre and Terenina, Elena E and Shevelev, Oleg B and Kulikov, Alexander V
Behavioural brain research, ISSN 0166-4328, 02/2019, Volume 359, pp. 446 - 456
Brain | Mice | Behavior | MRI | Lethal yellow | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Behavioral Sciences | Science & Technology | Motor Activity - physiology | Brain - diagnostic imaging | Genetic Association Studies | Mice, Inbred C57BL | Organ Size | Behavior, Animal - physiology | Male | RNA, Messenger - metabolism | Brain - metabolism | Motor Activity - genetics | Animals | Agouti Signaling Protein - genetics | Body Composition - genetics | Protein Tyrosine Phosphatases, Non-Receptor - metabolism | Brain - pathology | Mutation | Agouti Signaling Protein - metabolism | Body Composition - physiology | Type 2 diabetes | Tyrosine | Phosphatases | RNA | Genes | Genetic research | Genetic aspects | Gene expression | Index Medicus | Life Sciences | Other
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7. Full Text A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
by Lindhurst, Marjorie J and Sapp, Julie C and Teer, Jamie K and Johnston, Jennifer J and Finn, Erin M and Peters, Kathryn and Turner, Joyce and Cannons, Jennifer L and Bick, David and Blakemore, Laurel and Blumhorst, Catherine and Brockmann, Knut and Calder, Peter and Cherman, Natasha and Deardorff, Matthew A and Everman, David B and Golas, Gretchen and Greenstein, Robert M and Kato, B. Maya and Keppler-Noreuil, Kim M and Kuznetsov, Sergei A and Miyamoto, Richard T and Newman, Kurt and Ng, David and O'Brien, Kevin and Rothenberg, Steven and Schwartzentruber, Douglas J and Singhal, Virender and Tirabosco, Roberto and Upton, Joseph and Wientroub, Shlomo and Zackai, Elaine H and Hoag, Kimberly and Whitewood-Neal, Tracey and Robey, Pamela G and Schwartzberg, Pamela L and Darling, Thomas N and Tosi, Laura L and Mullikin, James C and Biesecker, Leslie G
The New England journal of medicine, ISSN 0028-4793, 08/2011, Volume 365, Issue 7, pp. 611 - 619
CELLS | DEFECTS | MCCUNE-ALBRIGHT SYNDROME | GERMLINE MUTATION | LETHAL GENES | LIPOMATOSIS | GROWTH | MICE | TUMOR-SUPPRESSOR PTEN | CHALLENGES | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Complex syndromes | Medical sciences | Medical genetics | Phosphorylation | DNA Mutational Analysis | Humans | Exons - genetics | Genotype | Male | Mosaicism | Proteus Syndrome - genetics | Mutation | Proto-Oncogene Proteins c-akt - metabolism | Child | Proto-Oncogene Proteins c-akt - genetics | Care and treatment | Usage | Gene mutations | Proteus syndrome | Causes of | Genetic aspects | Research | Nucleotide sequencing | Cell proliferation | Cell culture | Enzymes | AKT1 protein | Nucleotide sequence | Families & family life | AKT protein | Genomes | Patients | Western blotting | 1-Phosphatidylinositol 3-kinase | Genetic counseling | Biopsy | Skin | Deoxyribonucleic acid--DNA | DNA sequencing | Apoptosis | Index Medicus | Abridged Index Medicus
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8. Full Text Dynamic mutation-selection balance as an evolutionary attractor
by Goyal, Sidhartha and Balick, Daniel J and Jerison, Elizabeth R and Neher, Richard A and Shraiman, Boris I and Desai, Michael M
Genetics (Austin), ISSN 0016-6731, 08/2012, Volume 191, Issue 4, pp. 1309 - 1319
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetics, Population | Reproduction, Asexual - genetics | Algorithms | Genetic Fitness | Computer Simulation | Population Density | Selection, Genetic | Mutation Rate | Models, Genetic | Mutation | Lethal mutation | Evolutionary genetics | Genetic aspects | Research | Reproduction, Asexual | Population genetics | Mitochondria | Genomes | Evolutionary biology | Extinction | Index Medicus | asexual evolution | dynamic equilibrium | Muller’s ratchet | Investigations
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