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1. Full Text Memorial Moskau, Heike Winkel, Lutz Dittrich: Samizdat im Gulag – eine schwarze Literaturgeschichte
by Florian Olbrich and Miriam Säckler
Apparatus (Berlin), 05/2016, Issue 2-3
osip mandel’štam | samizdat | gavriil gordon | solovki-inseln | galina zivirko | gulag | maksim gor’kij | memorial | stalin | perm-36 | sowjetunion | literatur
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2. Full Text Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
by Mitchison, Hannah M and Schmidts, Miriam and Loges, Niki T and Freshour, Judy and Dritsoula, Athina and Hirst, Rob A and O'Callaghan, Christopher and Blau, Hannah and Al Dabbagh, Maha and Olbrich, Heike and Beales, Philip L and Yagi, Toshiki and Mussaffi, Huda and Chung, Eddie M. K and Omran, Heymut and Mitchell, David R
Nature genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 381 - 389
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Complex syndromes | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Microtubule-Associated Proteins - chemistry | Microtubule-Associated Proteins - genetics | Humans | Bacterial Proteins - chemistry | Molecular Sequence Data | Male | Kartagener Syndrome - genetics | Chlamydomonas reinhardtii - genetics | Base Sequence | Female | Situs Inversus - genetics | Cytoplasm - genetics | Amino Acid Sequence | Zebrafish Proteins - chemistry | Zebrafish Proteins - metabolism | Bacterial Proteins - genetics | Sequence Analysis, DNA | Zebrafish - genetics | Cilia - genetics | Phenotype | Sequence Alignment | Animals | Axonemal Dyneins - biosynthesis | Pedigree | Bacterial Proteins - metabolism | Polymorphism, Single Nucleotide | Mutation | Zebrafish Proteins - genetics | Physiological aspects | Genetic aspects | Research | Gene mutations | Movement disorders | Dynein | Proteins | Genotype & phenotype | Motility | Sperm | Genes | Ear diseases | Genetics | Cytoplasm | Molecular weight | Index Medicus
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3. Full Text Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry
by Olbrich, Heike and Schmidts, Miriam and Werner, Claudius and Onoufriadis, Alexandros and Loges, Niki T and Raidt, Johanna and Banki, Nora Fanni and Shoemark, Amelia and Burgoyne, Tom and Al Turki, Saeed and Hurles, Matthew E and Köhler, Gabriele and Schroeder, Josef and Nürnberg, Gudrun and Nürnberg, Peter and Chung, Eddie M.K and Reinhardt, Richard and Marthin, June K and Nielsen, Kim G and Mitchison, Hannah M and Omran, Heymut and UK10K Consortium
American journal of human genetics, ISSN 0002-9297, 10/2012, Volume 91, Issue 4, pp. 672 - 684
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Complex syndromes | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Haplotypes | Genetic Predisposition to Disease | Humans | Genetic Loci - genetics | Molecular Sequence Data | Male | Kartagener Syndrome - genetics | DNA Mutational Analysis - methods | Genes, Recessive | Cilia - genetics | Homozygote | Chromosomes, Human, Pair 1 | Pedigree | Base Sequence | RNA Splicing - genetics | Chromosomes, Human, Pair 16 | Adult | Female | Situs Inversus - genetics | Mutation | Hydrocephalus - genetics | Microfilament Proteins - genetics | Siblings | Usage | Motility | Gene mutations | Cilia and ciliary motion | Exome sequencing | Physiological aspects | Causes of | Genetic aspects | Research | Movement disorders | Cells | Proteins | Chronic obstructive pulmonary disease | Genetic disorders | Rodents | Index Medicus
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4. Full Text Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
by Wallmeier, Julia and Al-Mutairi, Dalal A and Chen, Chun-Ting and Loges, Niki Tomas and Pennekamp, Petra and Menchen, Tabea and Ma, Lina and Shamseldin, Hanan E and Olbrich, Heike and Dougherty, Gerard W and Werner, Claudius and Alsabah, Basel H and Köhler, Gabriele and Jaspers, Martine and Boon, Mieke and Griese, Matthias and Schmitt-Grohé, Sabina and Zimmermann, Theodor and Koerner-Rettberg, Cordula and Horak, Elisabeth and Kintner, Chris and Alkuraya, Fowzan S and Omran, Heymut
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 6, pp. 646 - 651
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Humans | Xenopus laevis | DNA Glycosylases - genetics | Child, Preschool | Molecular Sequence Data | Cytoplasm - metabolism | Male | Kartagener Syndrome - genetics | Mucociliary Clearance - genetics | Sequence Analysis, DNA | Cilia - metabolism | Sequence Homology, Amino Acid | Animals | Pedigree | Adolescent | Adult | Female | Mice | Models, Genetic | Centrioles - metabolism | Mutation | Child | Cell Movement | Development and progression | Genetic aspects | Gene mutations | Identification and classification | Lung diseases | Mucociliary system | Proteins | Studies | Microscopy | Biopsy | Cystic fibrosis | Genomes | Experiments | Defects | Index Medicus
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5. Full Text The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans
by Wirschell, Maureen and Olbrich, Heike and Werner, Claudius and Tritschler, Douglas and Bower, Raqual and Sale, Winfield S and Loges, Niki T and Pennekamp, Petra and Lindberg, Sven and Stenram, Unne and Carlén, Birgitta and Horak, Elisabeth and Köhler, Gabriele and Nürnberg, Peter and Nürnberg, Gudrun and Porter, Mary E and Omran, Heymut
Nature genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 262 - 268
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Axoneme - metabolism | Microtubule-Associated Proteins - genetics | Axonemal Dyneins - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Axonemal Dyneins - genetics | Molecular Sequence Data | Male | Kartagener Syndrome - genetics | Chlamydomonas - metabolism | Axoneme - genetics | Chlamydomonas - ultrastructure | Sperm Tail - metabolism | Axonemal Dyneins - ultrastructure | Plasminogen Activator Inhibitor 1 - metabolism | Axoneme - ultrastructure | Chlamydomonas - genetics | Algal Proteins - genetics | Cilia - ultrastructure | Plasminogen Activator Inhibitor 1 - genetics | Amino Acid Sequence | Cytoskeleton - genetics | Kartagener Syndrome - physiopathology | Cilia - metabolism | Cilia - genetics | Carrier Proteins - genetics | Ciliary Motility Disorders - pathology | Sperm Tail - ultrastructure | Cytoskeleton - metabolism | Kartagener Syndrome - metabolism | Mutation | Ciliary Motility Disorders - genetics | Genetic disorders | Gene mutations | Dynein | Physiological aspects | Genetic aspects | Research | Health aspects | Genetic screening | Motility | Genes | Algae | Cloning | Colleges & universities | Genomes | Molecular weight | Defects | Proteins | Databases | Microscopy | Proteomics | Mass spectrometry | Index Medicus | Clinical Medicine | Oto-rhino-laryngologi | Medical and Health Sciences | Medicin och hälsovetenskap | Otorhinolaryngology | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
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6. Full Text MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
by Boon, Mieke and Wallmeier, Julia and Ma, Lina and Loges, Niki Tomas and Jaspers, Martine and Olbrich, Heike and Dougherty, Gerard W and Raidt, Johanna and Werner, Claudius and Amirav, Israel and Hevroni, Avigdor and Abitbul, Revital and Avital, Avraham and Soferman, Ruth and Wessels, Marja and O'Callaghan, Christopher and Chung, Eddie M. K and Rutman, Andrew and Hirst, Robert A and Moya, Eduardo and Mitchison, Hannah M and Van Daele, Sabine and De Boeck, Kris and Jorissen, Mark and Kintner, Chris and Cuppens, Harry and Omran, Heymut
Nature communications, ISSN 2041-1723, 07/2014, Volume 5, Issue 1, pp. 4418 - 4418
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Humans | Male | Kartagener Syndrome - genetics | Young Adult | Cell Differentiation - genetics | Forkhead Transcription Factors - metabolism | Cell Cycle Proteins - genetics | Cilia - ultrastructure | Adult | Female | Nuclear Proteins - genetics | Cdc20 Proteins - genetics | DNA Glycosylases - metabolism | Ciliary Motility Disorders - etiology | Microscopy, Electron, Transmission | Cilia - pathology | Cell Cycle Proteins - metabolism | DNA Glycosylases - genetics | Gene Expression Regulation | Nuclear Proteins - metabolism | Mucociliary Clearance - genetics | Forkhead Transcription Factors - genetics | Chromosomes, Human, Pair 5 | Pedigree | Cdc20 Proteins - metabolism | Mutation | Ciliary Motility Disorders - genetics | Index Medicus
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7. Full Text DYX1C1 is required for axonemal dynein assembly and ciliary motility
by Tarkar, A and Loges, N.T and Slagle, C.E and Francis, R and Dougherty, G.W and Tamayo, J.V and Shook, B and Cantino, M and Schwartz, D and Jahnke, C and Olbrich, H and Werner, C and Raidt, J and Pennekamp, P and Abouhamed, M and Hjeij, R and Kohler, G and Griese, M and Li, Y and Lemke, K and Klena, N and Liu, X and Gabriel, G and Tobita, K and Jaspers, M and Morgan, L.C and Shapiro, A.J and Letteboer, S.J.F and Mans, D.A and Carson, J.L and Leigh, M.W and Wolf, W.E and Chen, S and Lucas, J.S and Onoufriadis, A and Plagnol, V and Schmidts, M and Boldt, K and Uk10K and Roepman, R and Zariwala, M.A and Lo, C.W and Mitchison, H.M and Knowles, M.R and Burdine, R.D and Loturco, J.J and Omran, H and UK10K
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 9, pp. 995 - 1003
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Ependyma - pathology | Axonemal Dyneins - metabolism | Humans | Axonemal Dyneins - genetics | Male | Kartagener Syndrome - genetics | Gene Knockdown Techniques | Respiratory Mucosa - pathology | Cilia - ultrastructure | Gene Order | Disease Models, Animal | Gene Targeting | Ependyma - metabolism | Zebrafish | Nerve Tissue Proteins - genetics | Cilia - metabolism | Cilia - genetics | Mice, Knockout | Protein Transport | Nerve Tissue Proteins - metabolism | Phenotype | Animals | Intracellular Space - metabolism | Kartagener Syndrome - metabolism | Protein Binding | Mice | Mutation | Respiratory Mucosa - metabolism | Physiological aspects | Genetic aspects | Research | Cilia and ciliary motion | Dynein | Studies | Proteins | Heart | Motility | Asymmetry | Rodents | Dyslexia | Gene expression | Experiments | Defects | Index Medicus
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8. Full Text BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas
by Pfister, Stefan and Janzarik, Wibke G and Remke, Marc and Ernst, Aurélie and Werft, Wiebke and Becker, Natalia and Toedt, Grischa and Wittmann, Andrea and Kratz, Christian and Olbrich, Heike and Ahmadi, Rezvan and Thieme, Barbara and Joos, Stefan and Radlwimmer, Bernhard and Kulozik, Andreas and Pietsch, Torsten and Herold-Mende, Christel and Gnekow, Astrid and Reifenberger, Guido and Korshunov, Andrey and Scheurlen, Wolfram and Omran, Heymut and Lichter, Peter
The Journal of clinical investigation, ISSN 0021-9738, 05/2008, Volume 118, Issue 5, pp. 1739 - 1749
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Gene Duplication | MAP Kinase Signaling System - physiology | Humans | Brain Neoplasms - pathology | Cyclins - genetics | Male | Astrocytoma - pathology | Cyclins - metabolism | Microarray Analysis | Astrocytoma - enzymology | Female | Cyclin D | Child | Proto-Oncogene Proteins B-raf - metabolism | Astrocytoma - genetics | Nucleic Acid Hybridization - methods | Brain Neoplasms - enzymology | Enzyme Inhibitors - metabolism | Brain Neoplasms - genetics | Proto-Oncogene Proteins B-raf - genetics | Chromosome Aberrations | Cell Cycle - physiology | Mitogen-Activated Protein Kinases - genetics | Enzyme Activation | Mutation | Mitogen-Activated Protein Kinases - metabolism | Care and treatment | Prognosis | Gene mutations | Genetic aspects | Diagnosis | Research | Identification and classification | Health aspects | Astrocytoma | Risk factors | Methods | Cancer | Index Medicus | Abridged Index Medicus
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9. Full Text Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
by Paff, Tamara and Loges, Niki T and Aprea, Isabella and Wu, Kaman and Bakey, Zeineb and Haarman, Eric G and Daniels, Johannes M.A and Sistermans, Erik A and Bogunovic, Natalija and Dougherty, Gerard W and Höben, Inga M and Große-Onnebrink, Jörg and Matter, Anja and Olbrich, Heike and Werner, Claudius and Pals, Gerard and Schmidts, Miriam and Omran, Heymut and Micha, Dimitra
American journal of human genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 160 - 168
Dyneins - metabolism | Cilia - pathology | Sperm Motility - genetics | Humans | Cytoplasm - metabolism | Male | Mutation - genetics | Cilia - metabolism | Sperm Tail - metabolism | Phenotype | Ciliary Motility Disorders - pathology | Genes, X-Linked | Sperm Tail - pathology | Pedigree | Female | Ciliary Motility Disorders - metabolism | Ciliary Motility Disorders - genetics | Causes of | Genetic aspects | Gene mutations | Health aspects | Movement disorders | Genotype & phenotype | Genetic disorders | Mutation | Chromosomes | Index Medicus | Report
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10. Full Text CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
by Panizzi, Jennifer R and Becker-Heck, Anita and Castleman, Victoria H and Al-Mutairi, Dalal A and Liu, Yan and Loges, Niki T and Pathak, Narendra and Austin-Tse, Christina and Sheridan, Eamonn and Schmidts, Miriam and Olbrich, Heike and Werner, Claudius and Häffner, Karsten and Hellman, Nathan and Chodhari, Rahul and Gupta, Amar and Kramer-Zucker, Albrecht and Olale, Felix and Burdine, Rebecca D and Schier, Alexander F and O'Callaghan, Christopher and Chung, Eddie M. K and Reinhardt, Richard and Mitchison, Hannah M and King, Stephen M and Omran, Heymut and Drummond, Iain A
Nature genetics, ISSN 1061-4036, 06/2012, Volume 44, Issue 6, pp. 714 - 719
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Complex syndromes | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Dyneins - metabolism | Animals | Pedigree | Humans | Female | Male | Zebrafish | Kartagener Syndrome - genetics | Mutation | Cilia - metabolism | Genetic aspects | Research | Gene mutations | Health aspects | Movement disorders | Risk factors | Studies | Genotype & phenotype | Motility | Asymmetry | Cysts | Genes | Genetics | Genomes | Index Medicus
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