Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product (English)
- New search for: Hofmann, Sabine
- New search for: Philbrook, Christine
- New search for: Gerbitz, Klaus-Dieter
- New search for: Bauer, Matthias F.
- New search for: Hofmann, Sabine
- New search for: Philbrook, Christine
- New search for: Gerbitz, Klaus-Dieter
- New search for: Bauer, Matthias F.
In:
Human molecular genetics
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12
, 16
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2003-
;
2003
- Article (Journal) / Electronic Resource
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Title:Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product
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Contributors:Hofmann, Sabine ( author ) / Philbrook, Christine ( author ) / Gerbitz, Klaus-Dieter ( author ) / Bauer, Matthias F. ( author )
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Published in:Human molecular genetics ; 12, 16 ; 2003-
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Publisher:
- New search for: Oxford University Press
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Publication date:2003-08-15
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 12, Issue 16
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1945
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Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuronOsaka, Hitoshi / Wang, Yu-Lai / Takada, Koji / Takizawa, Shuichi / Setsuie, Rieko / Li, Hang / Sato, Yae / Nishikawa, Kaori / Sun, Ying-Jie / Sakurai, Mikako et al. | 2003
- 1959
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A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24de Mollerat, Xavier J. / Gurrieri, Fiorella / Morgan, Chad T. / Sangiorgi, Eugenio / Everman, David B. / Gaspari, Paola / Amiel, Jeanne / Bamshad, Michael J. / Lyle, Robert / Blouin, Jean-Louis et al. | 2003
- 1973
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Chromosome 12q harbors multiple genetic loci related to asthma and asthma-related phenotypesRaby, Benjamin A. / Silverman, Edwin K. / Lazarus, Ross / Lange, Christoph / Kwiatkowski, David J. / Weiss, Scott T. et al. | 2003
- 1981
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Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shapeHou, Peng / Estrada, Lourdes / Kinley, Andrew W. / Parsons, J. Thomas / Vojtek, Anne B. / Gorski, Jerome L. et al. | 2003
- 1995
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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasiaAgarwal, Anil K. / Fryns, Jean-Pierre / Auchus, Richard J. / Garg, Abhimanyu et al. | 2003
- 2003
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Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene productHofmann, Sabine / Philbrook, Christine / Gerbitz, Klaus-Dieter / Bauer, Matthias F. et al. | 2003
- 2013
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Global disruption of the cerebellar transcriptome in a Down syndrome mouse modelSaran, Nidhi G. / Pletcher, Mathew T. / Natale, JoAnne E. / Cheng, Ying / Reeves, Roger H. et al. | 2003
- 2021
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Abnormal association of mutant huntingtin with synaptic vesicles inhibits glutamate releaseLi, He / Wyman, Travis / Yu, Zhao-Xue / Li, Shi-Hua / Li, Xiao-Jiang et al. | 2003
- 2031
-
Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator geneAznarez, Isabel / Chan, Elayne M. / Zielenski, Julian / Blencowe, Benjamin J. / Tsui, Lap-Chee et al. | 2003
- 2041
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TBX1 is required for inner ear morphogenesisVitelli, Francesca / Viola, Antonella / Morishima, Masae / Pramparo, Tiziano / Baldini, Antonio / Lindsay, Elizabeth et al. | 2003
- 2049
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Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degenerationBen-Yosef, Tamar / Belyantseva, Inna A. / Saunders, Thomas L. / Hughes, Elizabeth D. / Kawamoto, Kohei / Van Itallie, Christina M. / Beyer, Lisa A. / Halsey, Kärin / Gardner, Donald J. / Wilcox, Edward R. et al. | 2003
- 2063
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Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasiaWong, Jasmine C.Y. / Alon, Noa / Mckerlie, Colin / Huang, Jun R. / Meyn, M. Stephen / Buchwald, Manuel et al. | 2003
- 2077
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A genome wide scan for early onset primary hypertension in Scandinaviansvon Wowern, Fredrik / Bengtsson, Kristina / Lindgren, Cecilia M. / Orho-Melander, Marju / Fyhrquist, Frej / Lindblad, Ulf / Råstam, Lennart / Forsblom, Carol / Kanninen, Timo / Almgren, Peter et al. | 2003
- 2083
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Association of Eotaxin gene family with asthma and serum total IgEShin, Hyoung Doo / Kim, Lyoung Hyo / Park, Byung Lae / Jung, Ji Hyun / Kim, Jun Yeon / Chung, Il-Yup / Kim, Jung Sun / Lee, June Hyuk / Chung, Sun Hee / Kim, Yong Hoon et al. | 2003
- 2085
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Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary diseasePalmer, Lyle J. / Celedón, Juan C. / Chapman, Harold A. / Speizer, Frank E. / Weiss, Scott T. / Silverman, Edwin K. et al. | 2003