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There are 41496 results for: content related to: Mutation in TT I2 Reveals a Role for Triple T Complex in Human Brain Development

  1. You have free access to this content
    Variation Interpretation Predictors: Principles, Types, Performance, and Choice

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 579–597, Abhishek Niroula and Mauno Vihinen

    Version of Record online : 15 APR 2016, DOI: 10.1002/humu.22987

  2. Mutation Update for GNE Gene Variants Associated with GNE Myopathy

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 915–926, Frank V. Celeste, Thierry Vilboux, Carla Ciccone, John Karl de Dios, May Christine V. Malicdan, Petcharat Leoyklang, John C. McKew, William A. Gahl, Nuria Carrillo-Carrasco and Marjan Huizing

    Version of Record online : 17 JUL 2014, DOI: 10.1002/humu.22583

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    Tel2: a common partner of PIK-related kinases and a link between DNA checkpoint and nutritional response?

    Genes to Cells

    Volume 12, Issue 12, December 2007, Pages: 1301–1304, Junko Kanoh and Mitsuhiro Yanagida

    Version of Record online : 7 DEC 2007, DOI: 10.1111/j.1365-2443.2007.01142.x

  4. TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 812–826, Serena Lattante, Guy A. Rouleau and Edor Kabashi

    Version of Record online : 29 APR 2013, DOI: 10.1002/humu.22319

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    CK2 phospho-independent assembly of the Tel2-associated stress-signaling complexes in Schizosaccharomyces pombe

    Genes to Cells

    Volume 22, Issue 1, January 2017, Pages: 59–70, Haruna Inoue, Shizuka Sugimoto, Yumiko Takeshita, Miho Takeuchi, Mitsuko Hatanaka, Koji Nagao, Takeshi Hayashi, Aya Kokubu, Mitsuhiro Yanagida and Junko Kanoh

    Version of Record online : 9 DEC 2016, DOI: 10.1111/gtc.12454

  6. You have full text access to this OnlineOpen article
    Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel)

    Human Mutation

    Volume 37, Issue 1, January 2016, Pages: 28–35, Christopher Douville, David L. Masica, Peter D. Stenson, David N. Cooper, Derek M. Gygax, Rick Kim, Michael Ryan and Rachel Karchin

    Version of Record online : 26 OCT 2015, DOI: 10.1002/humu.22911

  7. You have full text access to this Open Access content
    Heat shock protein 90 regulates phosphatidylinositol 3-kinase-related protein kinase family proteins together with the RUVBL1/2 and Tel2-containing co-factor complex

    Cancer Science

    Volume 103, Issue 1, January 2012, Pages: 50–57, Natsuko Izumi, Akio Yamashita, Hisashi Hirano and Shigeo Ohno

    Version of Record online : 24 OCT 2011, DOI: 10.1111/j.1349-7006.2011.02112.x

  8. GATA4 Loss-of-Function Mutations Underlie Familial Tetralogy of Fallot

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1662–1671, Yi-Qing Yang, Lara Gharibeh, Ruo-Gu Li, Yuan-Feng Xin, Juan Wang, Zhong-Min Liu, Xing-Biao Qiu, Ying-Jia Xu, Lei Xu, Xin-Kai Qu, Xu Liu, Wei-Yi Fang, Ri-Tai Huang, Song Xue and Georges Nemer

    Version of Record online : 17 SEP 2013, DOI: 10.1002/humu.22434

  9. Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 151–164, Lucia Guidugli, Aura Carreira, Sandrine M. Caputo, Asa Ehlen, Alvaro Galli, Alvaro N.A. Monteiro, Susan L. Neuhausen, Thomas V.O. Hansen, Fergus J. Couch, Maaike P.G. Vreeswijk and ; on behalf of the ENIGMA consortium

    Version of Record online : 3 DEC 2013, DOI: 10.1002/humu.22478

  10. You have full text access to this OnlineOpen article
    Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 57–65, Hashem A. Shihab, Julian Gough, David N. Cooper, Peter D. Stenson, Gary L. A. Barker, Keith J. Edwards, Ian N. M. Day and Tom R. Gaunt

    Version of Record online : 2 NOV 2012, DOI: 10.1002/humu.22225

  11. In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1387–1395, Lorea Blázquez, Ana Aiastui, Maria Goicoechea, Mafalda Martins de Araujo, Aurélie Avril, Cyriaque Beley, Luis García, Juan Valcárcel, Puri Fortes and Adolfo López de Munain

    Version of Record online : 7 AUG 2013, DOI: 10.1002/humu.22379

  12. Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy

    Human Mutation

    Volume 37, Issue 1, January 2016, Pages: 98–109, Davide Visigalli, Patrizio Castagnola, Giovanna Capodivento, Alessandro Geroldi, Emilia Bellone, Gianluigi Mancardi, Davide Pareyson, Angelo Schenone and Lucilla Nobbio

    Version of Record online : 5 NOV 2015, DOI: 10.1002/humu.22921

  13. Molecular Basis of Two-Exon Skipping (Exons 12 and 13) by c.1248+5g>a in OXCT1 Gene: Study on Intermediates of OXCT1 Transcripts in Fibroblasts

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 473–480, Tomohiro Hori, Toshiyuki Fukao, Keiko Murase, Naomi Sakaguchi, Cary O. Harding and Naomi Kondo

    Version of Record online : 22 JAN 2013, DOI: 10.1002/humu.22258

  14. Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations

    Human Mutation

    Volume 37, Issue 7, July 2016, Pages: 640–652, Natasha G. Caminsky, Eliseos J. Mucaki, Ami M. Perri, Ruipeng Lu, Joan H. M. Knoll and Peter K. Rogan

    Version of Record online : 18 MAR 2016, DOI: 10.1002/humu.22972

  15. You have full text access to this OnlineOpen article
    Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 525–537, Alessandro Romano, Alessandra Tessa, Amilcare Barca, Fabiana Fattori, Maria Fulvia de Leva, Alessandra Terracciano, Carlo Storelli, Filippo Maria Santorelli and Tiziano Verri

    Version of Record online : 18 FEB 2013, DOI: 10.1002/humu.22269

  16. Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1215–1225, Carina Rodrigues, Alice Santos-Silva, Elísio Costa and Elsa Bronze-da-Rocha

    Version of Record online : 5 OCT 2015, DOI: 10.1002/humu.22903

  17. Genetic Variants in MicroRNAs and Their Binding Sites Are Associated with the Risk of Parkinson Disease

    Human Mutation

    Volume 37, Issue 3, March 2016, Pages: 292–300, Mohsen Ghanbari, Sirwan K.L. Darweesh, Hans W.J. de Looper, Marvin M. van Luijn, Albert Hofman, M. Arfan Ikram, Oscar H. Franco, Stefan J. Erkeland and Abbas Dehghan

    Version of Record online : 31 DEC 2015, DOI: 10.1002/humu.22943

  18. Somatic Expansion in Mouse and Human Carriers of Fragile X Premutation Alleles

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 157–166, Rachel Adihe Lokanga, Ali Entezam, Daman Kumari, Dmitry Yudkin, Mei Qin, Carolyn Beebe Smith and Karen Usdin

    Version of Record online : 4 OCT 2012, DOI: 10.1002/humu.22177

  19. You have full text access to this OnlineOpen article
    UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

    Human Mutation

    Volume 37, Issue 5, May 2016, Pages: 439–446, David Salgado, Jean-Pierre Desvignes, Ghadi Rai, Arnaud Blanchard, Morgane Miltgen, Amélie Pinard, Nicolas Lévy, Gwenaëlle Collod-Béroud and Christophe Béroud

    Version of Record online : 22 FEB 2016, DOI: 10.1002/humu.22965

  20. Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6

    Human Mutation

    Volume 37, Issue 3, March 2016, Pages: 315–323, Wanqiong Qiao, Yao Yang, Robert Sebra, Geetu Mendiratta, Andrea Gaedigk, Robert J. Desnick and Stuart A. Scott

    Version of Record online : 18 DEC 2015, DOI: 10.1002/humu.22936