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Nonsense mutation

A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

Jan Hauke, Andrea Schild, Antje Neugebauer, Alexandra Lappa, Julia Fricke, Sascha Fauser, Stefanie Rösler, Andrea Pannes, Dirk Zarrinnam, Janine Altmüller, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Eric Hahnen, Bodo B. Beck

published 04 Oct 2013

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Mutations in Non-Acid Patch Residues Disrupt H2A.Z’s Association with Chromatin through Multiple Mechanisms

Thomas J. Wood, Angela Thistlethwaite, Michael R. Harris, Simon C. Lovell, Catherine B. Millar

published 01 Oct 2013

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Novel CIC Point Mutations and an Exon-Spanning, Homozygous Deletion Identified in Oligodendroglial Tumors by a Comprehensive Genomic Approach Including Transcriptome Sequencing

Sophie Eisenreich, Khalil Abou-El-Ardat, Karol Szafranski, Jaime A. Campos Valenzuela, Andreas Rump, Janice M. Nigro, Rolf Bjerkvig, Eva-Maria Gerlach, Karl Hackmann, Evelin Schröck, Dietmar Krex, Lars Kaderali, Gabriele Schackert, Matthias Platzer, Barbara Klink

published 27 Sep 2013

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Canine Chondrodysplasia Caused by a Truncating Mutation in Collagen-Binding Integrin Alpha Subunit 10

Kaisa Kyöstilä, Anu K. Lappalainen, Hannes Lohi

published 25 Sep 2013

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Enu Mutagenesis Identifies a Novel Platelet Phenotype in a Loss-Of-Function Jak2 Allele

Nicole M. Anderson, Mojib Javadi, Elizabeth Berndl, Zorana Berberovic, Monica L. Bailey, Kai Huang, Ann M. Flenniken, Lucy R. Osborne, S. Lee Adamson, Janet Rossant, Christin Carter-Su, Chen Wang, Kelly M. McNagny, Robert F. Paulson, Mark D. Minden, William L. Stanford, Dwayne L. Barber

published 25 Sep 2013

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TOX3 Mutations in Breast Cancer

James Owain Jones, Suet-Feung Chin, Li-An Wong-Taylor, Donna Leaford, Bruce A. J. Ponder, Carlos Caldas, Ana-Teresa Maia

published 19 Sep 2013

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RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Dennis Lal, Eva M. Reinthaler, Janine Altmüller, Mohammad R. Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S. Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A. Neubauer

published 06 Sep 2013

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Candidate Gene Analysis of Tooth Agenesis Identifies Novel Mutations in Six Genes and Suggests Significant Role for WNT and EDA Signaling and Allele Combinations

Sirpa Arte, Satu Parmanen, Sinikka Pirinen, Satu Alaluusua, Pekka Nieminen

published 22 Aug 2013

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A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers

Lauren G. Aoude, Karin Wadt, Anders Bojesen, Dorthe Crüger, Åke Borg, Jeffrey M. Trent, Kevin M. Brown, Anne-Marie Gerdes, Göran Jönsson, Nicholas K. Hayward

published 19 Aug 2013

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Clinical Relevance of Gain-Of-Function Mutations of p53 in High-Grade Serous Ovarian Carcinoma

Hyo Jeong Kang, Sung-Min Chun, Kyu-Rae Kim, Insuk Sohn, Chang Ohk Sung

published 13 Aug 2013

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Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients

Maiko Miyagawa, Takehiko Naito, Shin-ya Nishio, Naoyuki Kamatani, Shin-ichi Usami

published 13 Aug 2013

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Integrated Genotypic Analysis of Hedgehog-Related Genes Identifies Subgroups of Keratocystic Odontogenic Tumor with Distinct Clinicopathological Features

Yasuyuki Shimada, Ken-ichi Katsube, Yuji Kabasawa, Kei-ichi Morita, Ken Omura, Akira Yamaguchi, Kei Sakamoto

published 07 Aug 2013

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Mutation Types and Aging Differently Affect Revertant Fiber Expansion in Dystrophic Mdx and Mdx52 Mice

Yusuke Echigoya, Joshua Lee, Merryl Rodrigues, Tetsuya Nagata, Jun Tanihata, Ashkan Nozohourmehrabad, Dharminder Panesar, Bailey Miskew, Yoshitsugu Aoki, Toshifumi Yokota

published 24 Jul 2013

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