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9 results on '"Reinhardt Richard"'

1. Lifestyle transitions in plant pathogenic Colletotrichum fungi deciphered by genome and transcriptome analyses

Author

O'Connell, Richard J, Thon, Michael R, Hacquard, Stéphane, Amyotte, Stefan G, Kleemann, Jochen, Torres, Maria F, Damm, Ulrike, Buiate, Ester A, Epstein, Lynn, Alkan, Noam, Altmüller, Janine, Alvarado-Balderrama, Lucia, Bauser, Christopher A, Becker, Christian, Birren, Bruce W, Chen, Zehua, Choi, Jaeyoung, Crouch, Jo Anne, Duvick, Jonathan P, Farman, Mark A, Gan, Pamela, Heiman, David, Henrissat, Bernard, Howard, Richard J, Kabbage, Mehdi, Koch, Christian, Kracher, Barbara, Kubo, Yasuyuki, Law, Audrey D, Lebrun, Marc-Henri, Lee, Yong-Hwan, Miyara, Itay, Moore, Neil, Neumann, Ulla, Nordström, Karl, Panaccione, Daniel G, Panstruga, Ralph, Place, Michael, Proctor, Robert H, Prusky, Dov, Rech, Gabriel, Reinhardt, Richard, Rollins, Jeffrey A, Rounsley, Steve, Schardl, Christopher L, Schwartz, David C, Shenoy, Narmada, Shirasu, Ken, Sikhakolli, Usha R, Stüber, Kurt, Sukno, Serenella A, Sweigard, James A, Takano, Yoshitaka, Takahara, Hiroyuki, Trail, Frances, van der Does, H Charlotte, Voll, Lars M, Will, Isa, Young, Sarah, Zeng, Qiandong, Zhang, Jingze, Zhou, Shiguo, Dickman, Martin B, Schulze-Lefert, Paul, Ver Loren van Themaat, Emiel, Ma, Li-Jun, and Vaillancourt, Lisa J

Published
2012
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2. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

Author

Panizzi, Jennifer R, primary, Becker-Heck, Anita, additional, Castleman, Victoria H, additional, Al-Mutairi, Dalal A, additional, Liu, Yan, additional, Loges, Niki T, additional, Pathak, Narendra, additional, Austin-Tse, Christina, additional, Sheridan, Eamonn, additional, Schmidts, Miriam, additional, Olbrich, Heike, additional, Werner, Claudius, additional, Häffner, Karsten, additional, Hellman, Nathan, additional, Chodhari, Rahul, additional, Gupta, Amar, additional, Kramer-Zucker, Albrecht, additional, Olale, Felix, additional, Burdine, Rebecca D, additional, Schier, Alexander F, additional, O'Callaghan, Christopher, additional, Chung, Eddie M K, additional, Reinhardt, Richard, additional, Mitchison, Hannah M, additional, King, Stephen M, additional, Omran, Heymut, additional, and Drummond, Iain A, additional

Published
2012
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3. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

Author

Becker-Heck, Anita, primary, Zohn, Irene E, additional, Okabe, Noriko, additional, Pollock, Andrew, additional, Lenhart, Kari Baker, additional, Sullivan-Brown, Jessica, additional, McSheene, Jason, additional, Loges, Niki T, additional, Olbrich, Heike, additional, Haeffner, Karsten, additional, Fliegauf, Manfred, additional, Horvath, Judith, additional, Reinhardt, Richard, additional, Nielsen, Kim G, additional, Marthin, June K, additional, Baktai, Gyorgy, additional, Anderson, Kathryn V, additional, Geisler, Robert, additional, Niswander, Lee, additional, Omran, Heymut, additional, and Burdine, Rebecca D, additional

Published
2010
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4. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Author

Otto, Edgar A, primary, Loeys, Bart, additional, Khanna, Hemant, additional, Hellemans, Jan, additional, Sudbrak, Ralf, additional, Fan, Shuling, additional, Muerb, Ulla, additional, O'Toole, John F, additional, Helou, Juliana, additional, Attanasio, Massimo, additional, Utsch, Boris, additional, Sayer, John A, additional, Lillo, Concepcion, additional, Jimeno, David, additional, Coucke, Paul, additional, Paepe, Anne De, additional, Reinhardt, Richard, additional, Klages, Sven, additional, Tsuda, Motoyuki, additional, Kawakami, Isao, additional, Kusakabe, Takehiro, additional, Omran, Heymut, additional, Imm, Anita, additional, Tippens, Melissa, additional, Raymond, Pamela A, additional, Hill, Jo, additional, Beales, Phil, additional, He, Shirley, additional, Kispert, Andreas, additional, Margolis, Benjamin, additional, Williams, David S, additional, Swaroop, Anand, additional, and Hildebrandt, Friedhelm, additional

Published
2005
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5. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

Author

Olbrich, Heike, primary, Fliegauf, Manfred, additional, Hoefele, Julia, additional, Kispert, Andreas, additional, Otto, Edgar, additional, Volz, Andreas, additional, Wolf, Matthias T, additional, Sasmaz, Gürsel, additional, Trauer, Ute, additional, Reinhardt, Richard, additional, Sudbrak, Ralf, additional, Antignac, Corinne, additional, Gretz, Norbert, additional, Walz, Gerd, additional, Schermer, Bernhard, additional, Benzing, Thomas, additional, Hildebrandt, Friedhelm, additional, and Omran, Heymut, additional

Published
2003
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6. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

Author

Olbrich, Heike, primary, Häffner, Karsten, additional, Kispert, Andreas, additional, Völkel, Alexander, additional, Volz, Andreas, additional, Sasmaz, Gürsel, additional, Reinhardt, Richard, additional, Hennig, Steffen, additional, Lehrach, Hans, additional, Konietzko, Nikolaus, additional, Zariwala, Maimoona, additional, Noone, Peadar G., additional, Knowles, Michael, additional, Mitchison, Hannah M., additional, Meeks, Maggie, additional, Chung, Eddie M.K., additional, Hildebrandt, Friedhelm, additional, Sudbrak, Ralf, additional, and Omran, Heymut, additional

Published
2002
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7. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.

Author

Becker-Heck, Anita, Zohn, Irene E., Okabe, Noriko, Pollock, Andrew, Lenhart, Kari Baker, Sullivan-Brown, Jessica, McSheene, Jason, Loges, Niki T., Olbrich, Heike, Haeffner, Karsten, Fliegauf, Manfred, Horvath, Judith, Reinhardt, Richard, Nielsen, Kim G., Marthin, June K., Baktai, Gyorgy, Anderson, Kathryn V., Geisler, Robert, Niswander, Lee, and Omran, Heymut

Subjects
RESPIRATORY infections, PROTEINS, MICROTUBULES, GENETICS, SITUS inversus, BIOLOGICAL variation, CYTOPLASM
Abstract

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous autosomal recessive disorder characterized by recurrent infections of the respiratory tract associated with the abnormal function of motile cilia. Approximately half of individuals with PCD also have alterations in the left-right organization of their internal organ positioning, including situs inversus and situs ambiguous (Kartagener's syndrome). Here, we identify an uncharacterized coiled-coil domain containing a protein, CCDC40, essential for correct left-right patterning in mouse, zebrafish and human. In mouse and zebrafish, Ccdc40 is expressed in tissues that contain motile cilia, and mutations in Ccdc40 result in cilia with reduced ranges of motility. We further show that CCDC40 mutations in humans result in a variant of PCD characterized by misplacement of the central pair of microtubules and defective assembly of inner dynein arms and dynein regulatory complexes. CCDC40 localizes to motile cilia and the apical cytoplasm and is required for axonemal recruitment of CCDC39, disruption of which underlies a similar variant of PCD. [ABSTRACT FROM AUTHOR]

Published
2011
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8. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left?right asymmetry.

Author

Olbrich, Heike, Häffner, Karsten, Kispert, Andreas, Völkel, Alexander, Volz, Andreas, Sasmaz, Gürsel, Reinhardt, Richard, Hennig, Steffen, Lehrach, Hans, Konietzko, Nikolaus, Zariwala, Maimoona, Noone, Peadar G., Knowles, Michael, Mitchison, Hannah M., Meeks, Maggie, Chung, Eddie M.K., Hildebrandt, Friedhelm, Sudbrak, Ralf, and Omran, Heymut

Subjects
MOVEMENT disorders, RESPIRATORY infections, DNA
Abstract

Primary ciliary dyskinesia (PCD, MIM 242650) is characterized by recurrent infections of the respiratory tract due to reduced mucociliary clearance and by sperm immobility. Half of the affected offspring have situs inversus (reversed organs), which results from randomization of left-right (LR) asymmetry. We previously localized to chromosome 5p a PCD locus containing DNAH5, which encodes a protein highly similar to the Chlamydomonas &gamma-dynein heavy chain. Here we characterize the full-length 14-kb transcript of DNAH5. Sequence analysis in individuals with PCD with randomization of LR asymmetry identified mutations resulting in non-functional DNAH5 proteins. [ABSTRACT FROM AUTHOR]

Published
2002
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9. SNP and haplotype mapping for genetic analysis in the rat.

Author

Saar K, Beck A, Bihoreau MT, Birney E, Brocklebank D, Chen Y, Cuppen E, Demonchy S, Dopazo J, Flicek P, Foglio M, Fujiyama A, Gut IG, Gauguier D, Guigo R, Guryev V, Heinig M, Hummel O, Jahn N, Klages S, Kren V, Kube M, Kuhl H, Kuramoto T, Kuroki Y, Lechner D, Lee YA, Lopez-Bigas N, Lathrop GM, Mashimo T, Medina I, Mott R, Patone G, Perrier-Cornet JA, Platzer M, Pravenec M, Reinhardt R, Sakaki Y, Schilhabel M, Schulz H, Serikawa T, Shikhagaie M, Tatsumoto S, Taudien S, Toyoda A, Voigt B, Zelenika D, Zimdahl H, and Hubner N

Subjects
Animals, Chromosome Mapping, Genome, Linkage Disequilibrium, Phylogeny, Recombination, Genetic, Databases, Genetic, Haplotypes, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Rats genetics, Rats, Inbred Strains genetics
Abstract

The laboratory rat is one of the most extensively studied model organisms. Inbred laboratory rat strains originated from limited Rattus norvegicus founder populations, and the inherited genetic variation provides an excellent resource for the correlation of genotype to phenotype. Here, we report a survey of genetic variation based on almost 3 million newly identified SNPs. We obtained accurate and complete genotypes for a subset of 20,238 SNPs across 167 distinct inbred rat strains, two rat recombinant inbred panels and an F2 intercross. Using 81% of these SNPs, we constructed high-density genetic maps, creating a large dataset of fully characterized SNPs for disease gene mapping. Our data characterize the population structure and illustrate the degree of linkage disequilibrium. We provide a detailed SNP map and demonstrate its utility for mapping of quantitative trait loci. This community resource is openly available and augments the genetic tools for this workhorse of physiological studies.

Published
2008
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