ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (English)
- New search for: Halim, D.
- New search for: Hofstra, R. M.
- New search for: Signorile, L.
- New search for: Verdijk, R. M.
- New search for: van der Werf, C. S.
- New search for: Sribudiani, Y.
- New search for: Brouwer, R. W.
- New search for: van IJcken, W. F.
- New search for: Dahl, N.
- New search for: Verheij, J. B.
- New search for: Halim, D.
- New search for: Hofstra, R. M.
- New search for: Signorile, L.
- New search for: Verdijk, R. M.
- New search for: van der Werf, C. S.
- New search for: Sribudiani, Y.
- New search for: Brouwer, R. W.
- New search for: van IJcken, W. F.
- New search for: Dahl, N.
- New search for: Verheij, J. B.
In:
HUMAN MOLECULAR GENETICS
;
25
, 3
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571-583
;
2016
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ISSN:
- Article (Journal) / Print
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Title:ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
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Contributors:Halim, D. ( author ) / Hofstra, R. M. ( author ) / Signorile, L. ( author ) / Verdijk, R. M. ( author ) / van der Werf, C. S. ( author ) / Sribudiani, Y. ( author ) / Brouwer, R. W. ( author ) / van IJcken, W. F. ( author ) / Dahl, N. ( author ) / Verheij, J. B. ( author )
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Published in:HUMAN MOLECULAR GENETICS ; 25, 3 ; 571-583
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Publisher:
- New search for: Oxford University Press
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Publication date:2016-01-01
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Size:13 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 572.8
- Further information on Dewey Decimal Classification
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Classification:
DDC: 572.8 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 25, Issue 3
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.
- 419
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Large-scale probabilistic 3D organization of human chromosome territoriesSehgal, Nitasha / Fritz, Andrew J. / Vecerova, Jaromira / Ding, Hu / Chen, Zihe / Stojkovic, Branislav / Bhattacharya, Sambit / Xu, Jinhui / Berezney, Ronald et al. | 2016
- 437
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Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressorBlake, Joshua / Hu, Di / Cain, Jason E. / Rosenblum, Norman D. et al. | 2016
- 448
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Disruption of polycystin-L causes hippocampal and thalamocortical hyperexcitabilityYao, Gang / Luo, Chong / Harvey, Michael / Wu, Maoqing / Schreiber, Taylor H. / Du, Yanjun / Basora, Nuria / Su, Xuefeng / Contreras, Diego / Zhou, Jing et al. | 2016
- 459
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Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2Casadei, Nicolas / Sood, Poonam / Ulrich, Thomas / Fallier-Becker, Petra / Kieper, Nicole / Helling, Stefan / May, Caroline / Glaab, Enrico / Chen, Jing / Nuber, Silke et al. | 2016
- 472
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Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHDSobrier, Marie-Laure / Tsai, Yu-Cheng / Pérez, Christelle / Leheup, Bruno / Bouceba, Tahar / Duquesnoy, Philippe / Copin, Bruno / Sizova, Daria / Penzo, Alfredo / Stanger, Ben Z. et al. | 2016
- 484
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Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletionsHillmer, Morten / Wagner, David / Summerer, Anna / Daiber, Michaela / Mautner, Victor-Felix / Messiaen, Ludwine / Cooper, David N. / Kehrer-Sawatzki, Hildegard et al. | 2016
- 497
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OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndromeChevrier, Véronique / Bruel, Ange-Line / Van Dam, Teunis J. P. / Franco, Brunella / Lo Scalzo, Melissa / Lembo, Frédérique / Audebert, Stéphane / Baudelet, Emilie / Isnardon, Daniel / Bole, Angélique et al. | 2016
- 514
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SMN deficiency does not induce oxidative stress in SMA iPSC-derived astrocytes or motor neuronsPatitucci, Teresa N. / Ebert, Allison D. et al. | 2016
- 524
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Impact of the Usher syndrome on olfactionJansen, Fabian / Kalbe, Benjamin / Scholz, Paul / Mikosz, Marta / Wunderlich, Kirsten A. / Kurtenbach, Stefan / Nagel-Wolfrum, Kerstin / Wolfrum, Uwe / Hatt, Hanns / Osterloh, Sabrina et al. | 2016
- 534
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TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptorMohagheghi, Fatemeh / Prudencio, Mercedes / Stuani, Cristiana / Cook, Casey / Jansen-West, Karen / Dickson, Dennis W. / Petrucelli, Leonard / Buratti, Emanuele et al. | 2016
- 546
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Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorderSollis, Elliot / Graham, Sarah A. / Vino, Arianna / Froehlich, Henning / Vreeburg, Maaike / Dimitropoulou, Danai / Gilissen, Christian / Pfundt, Rolph / Rappold, Gudrun A. / Brunner, Han G. et al. | 2016
- 558
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The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndromeBrown, Kyla / Selfridge, Jim / Lagger, Sabine / Connelly, John / De Sousa, Dina / Kerr, Alastair / Webb, Shaun / Guy, Jacky / Merusi, Cara / Koerner, Martha V. et al. | 2016
- 571
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ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis SyndromeHalim, Danny / Hofstra, Robert M.W. / Signorile, Luca / Verdijk, Rob M. / van der Werf, Christine S. / Sribudiani, Yunia / Brouwer, Rutger W. W. / van IJcken, Wilfred F.J. / Dahl, Niklas / Verheij, Joke B.G.M. et al. | 2016
- 584
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The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutationJiang, Pingping / Jin, Xiaofen / Peng, Yanyan / Wang, Meng / Liu, Hao / Liu, Xiaoling / Zhang, Zengjun / Ji, Yanchun / Zhang, Juanjuan / Liang, Min et al. | 2016
- 597
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De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndromeSrivastava, Anshika / Ritesh, K.C. / Tsan, Yao-Chang / Liao, Rosy / Su, Fengyun / Cao, Xuhong / Hannibal, Mark C. / Keegan, Catherine E. / Chinnaiyan, Arul M. / Martin, Donna M. et al. | 2016
- 609
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Epigenome-wide association study identifies TXNIP gene associated with type 2 diabetes mellitus and sustained hyperglycemiaSoriano-Tárraga, Carolina / Jiménez-Conde, Jordi / Giralt-Steinhauer, Eva / Mola-Caminal, Marina / Vivanco-Hidalgo, Rosa M. / Ois, Angel / Rodríguez-Campello, Ana / Cuadrado-Godia, Elisa / Sayols-Baixeras, Sergi / Elosua, Roberto et al. | 2016
- 620
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Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian womenWang, Zhaoming / Seow, Wei Jie / Shiraishi, Kouya / Hsiung, Chao A. / Matsuo, Keitaro / Liu, Jie / Chen, Kexin / Yamji, Taiki / Yang, Yang / Chang, I-Shou et al. | 2016
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