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1. Full Text Drosophila Aurora A Kinase Is Required to Localize D-TACC to Centrosomes and to Regulate Astral Microtubules
by Régis Giet and Doris McLean and Simon Descamps and Michael J. Lee and Jordan W. Raff and Claude Prigent and David M. Glover
The Journal of cell biology, ISSN 0021-9525, 2/2002, Volume 156, Issue 3, pp. 437 - 451
Larvae | Auroras | Microtubules | Drosophila | Metaphase | Centrosomes | Antibodies | Embryos | Cells | Mitotic spindle apparatus | Microtubule | D-TACC | Mitosis | Aurora A | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Protein Kinases - metabolism | Protein Kinases - genetics | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Protein-Serine-Threonine Kinases | Adenosine Triphosphate - genetics | Male | Drosophila Proteins - metabolism | Mitosis - genetics | Recombinant Fusion Proteins - metabolism | RNA - genetics | Adenosine Triphosphate - metabolism | Spindle Apparatus - genetics | Drosophila - embryology | Female | Nuclear Proteins - genetics | Drosophila - genetics | RNA - metabolism | Nuclear Proteins - metabolism | Protein Structure, Tertiary - genetics | Aurora Kinases | Binding Sites - genetics | Xenopus Proteins | Mutation - genetics | Cell Compartmentation - physiology | Animals | Centrosome - enzymology | Microtubules - genetics | Microtubules - enzymology | Recombinant Fusion Proteins - genetics | Drosophila - metabolism | Drosophila Proteins - genetics | Cell Cycle Proteins | Spindle Apparatus - enzymology | Pregnancy proteins | Research | D-TACC protein | centrosomes | Aurora-A protein | XMAP215 protein | MSPS protein | Index Medicus | Life Sciences | Computer Science | Aurora A; D-TACC; mitosis; centrosomes; microtubule
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2. Full Text New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases
by Mercier, Sandra and Dubourg, Christèle and Garcelon, Nicolas and Campillo-Gimenez, Boris and Gicquel, Isabelle and Belleguic, Marion and Ratié, Leslie and Pasquier, Laurent and Loget, Philippe and Bendavid, Claude and Jaillard, Sylvie and Rochard, Lucie and Quélin, Chloé and Dupé, Valérie and David, Véronique and Odent, Sylvie
Journal of medical genetics, ISSN 0022-2593, 11/2011, Volume 48, Issue 11, pp. 752 - 760
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Malformations of the nervous system | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Genetic Testing | Humans | Male | Genetic Counseling | Hedgehog Proteins - genetics | DNA Mutational Analysis | Female | Fetus | Eye Proteins - genetics | Prosencephalon - metabolism | Nuclear Proteins - genetics | Infant, Newborn | Prosencephalon - pathology | Severity of Illness Index | Genetic Association Studies | Repressor Proteins - genetics | European Continental Ancestry Group | Genotype | Holoprosencephaly - genetics | Holoprosencephaly - pathology | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Holoprosencephaly - diagnosis | Pregnancy | Phenotype | Comparative Genomic Hybridization | Pedigree | Mutation | Cohort Studies | Gene mutations | Causes of | Physiological aspects | Genetic aspects | Research | Holoprosencephaly | Prosencephalon | Index Medicus | Repressor Proteins | Neurons and Cognition | Hedgehog Proteins | Life Sciences | Genetics | Nerve Tissue Proteins | Nuclear Proteins | Homeodomain Proteins | Transcription Factors | Development Biology | Eye Proteins | pathology | SHH | genetics | ZIC2 | holoprosencephaly (HPE) | SIX3 | diagnosis | TGIF | metabolism
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3. Full Text Rare and low-frequency coding variants alter human adult height
by Marouli, Eirini and Graff, Mariaelisa and Medina-Gomez, Carolina and Lo, Ken Sin and Wood, Anew R and Kjaer, Troels R and Fine, Rebecca S and Lu, Yingchang and Schurmann, Claudia and Highland, Heather M and Rüeger, Sina and Thorleifsson, Gudmar and Justice, Anne E and Lamparter, David and Stirrups, Kathleen E and Turcot, Valérie and Young, Kristin L and Winkler, Thomas W and Esko, Tõnu and Karaderi, Tugce and Locke, Adam E and Masca, Nicholas G. D and Ng, Maggie C. Y and Mudgal, Poorva and Rivas, Manuel A and Vedantam, Sailaja and Mahajan, Anubha and Guo, Xiuqing and Abecasis, Goncalo and Aben, Katja K and Adair, Linda S and Alam, Dewan S and Albrecht, Eva and Allin, Kristine H and Allison, Matthew and Amouyel, Philippe and Appel, Emil V and Arveiler, Dominique and Asselbergs, Folkert W and Auer, Paul L and Balkau, Beverley and Banas, Bernhard and Bang, Lia E and Benn, Marianne and Bergmann, Sven and Bielak, Lawrence F and Blüher, Matthias and Boeing, Heiner and Boerwinkle, Eric and Böger, Carsten A and Bonnycastle, Lori L and Bork-Jensen, Jette and Bots, Michiel L and Bottinger, Erwin P and Bowden, Donald W and Brandslund, Ivan and Breen, Gerome and Brilliant, Murray H and Broer, Linda and Burt, Amber A and Butterworth, Adam S and Carey, David J and Caulfield, Mark J and Chambers, John C and Chasman, Daniel I and Chen, Yii-Der Ida and Chowdhury, Rajiv and Christensen, Cramer and Chu, Auey Y and Cocca, Massimiliano and Collins, Francis S and Cook, James P and Corley, Janie and Galbany, Jordi Corominas and Cox, Amanda J and Cuellar-Partida, Gabriel and Danesh, John and Davies, Gail and de Bakker, Paul I. W and de Borst, Gert J and de Denus, Simon and de Groot, Mark C. H and de Mutsert, Renée and Deary, Ian J and Dedoussis, George and Demerath, Ellen W and den Hollander, Anneke I and Dennis, Joe G and Di Angelantonio, Emanuele and nos, Fotios and Du, Mengmeng and Dunning, Alison M and Easton, Douglas F and Ebeling, Tapani and Edwards, Todd L and Ellinor, Patrick T and Elliott, Paul and Evangelou, Evangelos and Farmaki, Aliki-Eleni and Faul, Jessica D and ... and EPIC-CVD Consortium and GoT2D Genes Consortium and MAGIC Investigators and Global Lipids Genetics Consortium and EPIC-InterAct Consortium and ReproGen Consortium and ExomeBP Consortium and CHD Exome Consortium and T2D-Genes Consortium and CHD Exome+ Consortium and The EPIC-InterAct Consortium
Nature (London), ISSN 0028-0836, 2017, Volume 542, Issue 7640, pp. 186 - 190
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Cell Adhesion Molecules - genetics | Gene Frequency - genetics | Humans | Glycoproteins - metabolism | Male | Intercellular Signaling Peptides and Proteins - metabolism | Hedgehog Proteins - genetics | Proteolysis | NADPH Oxidases - genetics | Adult | Female | Interleukin-11 Receptor alpha Subunit - genetics | Somatomedins - metabolism | Glycosaminoglycans - biosynthesis | Glycoproteins - genetics | Multifactorial Inheritance - genetics | Procollagen N-Endopeptidase - genetics | Intercellular Signaling Peptides and Proteins - genetics | Interferon Regulatory Factors - genetics | Proteoglycans - biosynthesis | NADPH Oxidase 4 | Body Height - genetics | Genome, Human - genetics | Phenotype | Receptors, Androgen - genetics | Alleles | Genetic Variation - genetics | Pregnancy-Associated Plasma Protein-A - metabolism | ADAMTS Proteins - genetics | Stature | Genetic aspects | Observations | Genetic variation | Studies | Datasets | Disease | Genes | Deoxyribonucleic acid--DNA | Index Medicus | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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4. Full Text Molecular Characterization of UpaB and UpaC, Two New Autotransporter Proteins of Uropathogenic Escherichia coli CFT073
by Luke P. Allsopp and Christophe Beloin and Glen C. Ulett and Jaione Valle and Makrina Totsika and Orla Sherlock and Jean-Marc Ghigo and Mark A. Schembri
Infection and Immunity, ISSN 0019-9567, 01/2012, Volume 80, Issue 1, pp. 321 - 332
Infectious Diseases | Immunology | Life Sciences & Biomedicine | Science & Technology | Virulence Factors - genetics | Fimbriae Proteins - metabolism | Adhesins, Bacterial - genetics | Biofilms - growth & development | Gene Expression Profiling | Adhesins, Bacterial - metabolism | Membrane Transport Proteins - genetics | Uropathogenic Escherichia coli - pathogenicity | Cloning, Molecular | Polymerase Chain Reaction | Female | Membrane Transport Proteins - metabolism | Urinary Tract Infections - microbiology | Urinary Tract Infections - pathology | Escherichia coli K12 - pathogenicity | Extracellular Matrix Proteins - metabolism | Mice, Inbred C57BL | Escherichia coli Infections - microbiology | Escherichia coli Proteins - metabolism | Uropathogenic Escherichia coli - genetics | Animals | DNA, Bacterial - genetics | Escherichia coli Infections - pathology | Escherichia coli Proteins - genetics | Virulence Factors - metabolism | Mice | Escherichia coli K12 - genetics | Index Medicus | Adhesins | Fimbriae Proteins/metabolism | Biofilms/growth & development | Molecular | Life Sciences | Extracellular Matrix Proteins/metabolism | Escherichia coli K12/genetics/pathogenicity | Cloning | Escherichia coli Proteins/genetics/metabolism | Inbred C57BL | Bacteriology | Membrane Transport Proteins/genetics/metabolism | Microbiology and Parasitology | Bacterial/genetics | Escherichia coli Infections/microbiology/pathology | Bacterial/genetics/metabolism | Urinary Tract Infections/microbiology/pathology | DNA | Uropathogenic Escherichia coli/genetics/pathogenicity | Virulence Factors/genetics/metabolism | Molecular Pathogenesis
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5. Full Text EMSY Links the BRCA2 Pathway to Sporadic Breast and Ovarian Cancer
by Hughes-Davies, Luke and Huntsman, David and Ruas, Margarida and Fuks, Francois and Bye, Jacqueline and Chin, Suet-Feung and Milner, Jonathon and Brown, Lindsay A and Hsu, Forrest and Gilks, Blake and Nielsen, Torsten and Schulzer, Michael and Chia, Stephen and Ragaz, Joseph and Cahn, Anthony and Linger, Lori and Ozdag, Hilal and Cattaneo, Elena and Jordanova, E.S and Schuuring, Edward and Yu, David S and Venkitaraman, Ashok and Ponder, Bruce and Doherty, Aidan and Aparicio, Samuel and Bentley, David and Theillet, Charles and Ponting, Chris P and Caldas, Carlos and Kouzarides, Tony
Cell (Cambridge), ISSN 0092-8674, 2003, Volume 115, Issue 5, pp. 523 - 535
DOMAIN | METHYLATION | METHYLTRANSFERASE | GENE | HISTONE H3 | CHROMO | TRANSCRIPTION | LYSINE 9 | PROTEINS | EXPRESSION | UMCG Approved | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Prognosis | Humans | DNA, Complementary - genetics | Molecular Sequence Data | Phylogeny | Breast Neoplasms - metabolism | Ovarian Neoplasms - genetics | Genes, Regulator - genetics | Neoplasm Proteins | Repressor Proteins - isolation & purification | Female | Ovarian Neoplasms - metabolism | DNA, Complementary - analysis | Base Sequence - genetics | Genetic Predisposition to Disease - genetics | Signal Transduction | Repressor Proteins - genetics | Exons - genetics | Chromosomes, Human, Pair 11 - genetics | Protein Structure, Tertiary - genetics | Chromosomal Proteins, Non-Histone - genetics | Nuclear Proteins | Carrier Proteins - genetics | Plant Proteins - genetics | Breast Neoplasms - genetics | Carcinoma - genetics | BRCA2 Protein - deficiency | Gene Amplification - genetics | Carcinoma - metabolism | Gene Silencing - physiology | BRCA2 Protein - genetics | Gene amplification | Analysis | Breast cancer | Genetic aspects | Research | Genetic regulation | Ovarian cancer | BS69 protein | HP1^b protein | EMSY protein | chromosome 11 | BRCA2 gene | HP1b protein | Index Medicus
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6. Full Text Aberrant TGFβ Signaling Contributes to Altered Trophoblast Differentiation in Preeclampsia
by Xu, Jing and Sivasubramaniyam, Tharini and Yinon, Yoav and Tagliaferro, Andrea and Ray, Jocelyn and Nevo, Ori and Post, Martin and Caniggia, Isabella
Endocrinology (Philadelphia), ISSN 0013-7227, 02/2016, Volume 157, Issue 2, pp. 883 - 899
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Pre-Eclampsia - genetics | Oncogene Proteins - genetics | Phosphorylation | Cyclin-Dependent Kinase 4 - genetics | Humans | Pregnancy Proteins - genetics | Male | rhoA GTP-Binding Protein - metabolism | Pregnancy Proteins - metabolism | rhoA GTP-Binding Protein - genetics | RNA, Messenger - metabolism | Cyclin E - genetics | Case-Control Studies | Gene Products, env - metabolism | Young Adult | Cell Differentiation - genetics | Smad2 Protein - genetics | Gene Products, env - genetics | Adult | Female | Pre-Eclampsia - metabolism | Nuclear Proteins - genetics | Smad7 Protein - genetics | Real-Time Polymerase Chain Reaction | Infant, Newborn | Smad7 Protein - metabolism | Cell Proliferation - genetics | Trophoblasts - metabolism | Signal Transduction | Oncogene Proteins - metabolism | Smad2 Protein - metabolism | Ubiquitin-Protein Ligases - metabolism | Nuclear Proteins - metabolism | Transcription Factors - genetics | Cyclin-Dependent Kinase 4 - metabolism | Reverse Transcriptase Polymerase Chain Reaction | Gestational Age | Placenta - metabolism | Pregnancy | Transcription Factors - metabolism | Transforming Growth Factor beta - genetics | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Cyclin E - metabolism | Adaptor Proteins, Signal Transducing - metabolism | Ubiquitin-Protein Ligases - genetics | Transforming Growth Factor beta - metabolism | Index Medicus | Abridged Index Medicus
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7. Full Text An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
by Wheway, G and Schmidts, M and Mans, D.A and Szymanska, K and Nguyen, T.M and Racher, H and Phelps, I.G and Toedt, G and Kennedy, J and Wunderlich, K.A and Sorusch, N and Abdelhamed, Z.A and Natarajan, S and Herridge, W and Reeuwijk, J. van and Horn, N and Boldt, K and Parry, D.A and Letteboer, S.J.F and Roosing, S and Adams, M and Bell, S.M and Bond, J and Higgins, J and Morrison, E.E and Tomlinson, D.C and Slaats, G.G and Dam, T.J.P. van and Huang, L and Kessler, K and Giessl, A and Logan, C.V and Boyle, E.A and Shendure, J and Anazi, S and Aldahmesh, M and Hazzaa, S. Al and Hegele, R.A and Ober, C and Frosk, P and Mhanni, A.A and Chodirker, B.N and Chudley, A.E and Lamont, R and Bernier, F.P and Beaulieu, C.L and Gordon, P and Pon, R.T and Donahue, C and Barkovich, A.J and Wolf, L and Toomes, C and Thiel, C.T and Boycott, K.M and McKibbin, M and Inglehearn, C.F and Stewart, F and Omran, H and Huynen, M.A and Sergouniotis, P.I and Alkuraya, F.S and Parboosingh, J.S and Innes, A.M and Willoughby, C.E and Giles, R.H and Webster, A.R and Ueffing, M and Blacque, O and Gleeson, J.G and Wolfrum, U and Beales, P.L and Gibson, T and Doherty, D and Mitchison, H.M and Roepman, R and Johnson, C.A and Univ Washington Ctr Mendelian Geno and UK10K Consortium and University of Washington Center for Mendelian Genomics
Nature cell biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | Index Medicus | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
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