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Frameshift mutation

Differential Requirement for irf8 in Formation of Embryonic and Adult Macrophages in Zebrafish

Celia E. Shiau, Zoe Kaufman, Ana M. Meireles, William S. Talbot

published 23 Jan 2015

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Whole Genome Sequence Analysis Suggests Intratumoral Heterogeneity in Dissemination of Breast Cancer to Lymph Nodes

Kevin Blighe, Laura Kenny, Naina Patel, David S. Guttery, Karen Page, Julian H. Gronau, Cyrus Golshani, Justin Stebbing, R. Charles Coombes, Jacqueline A. Shaw

published 29 Dec 2014

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Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing

Louiza Papazachariou, Panayiota Demosthenous, Myrtani Pieri, Gregory Papagregoriou, Isavella Savva, Christoforos Stavrou, Michael Zavros, Yiannis Athanasiou, Kyriakos Ioannou, Charalambos Patsias, Alexia Panagides, Costas Potamitis, Kyproula Demetriou, Marios Prikis, Michael Hadjigavriel, Maria Kkolou, Panayiota Loukaidou, Androulla Pastelli, Aristos Michael, Akis Lazarou, Maria Arsali, Loukas Damianou, Ioanna Goutziamani, Andreas Soloukides, Lakis Yioukas, Avraam Elia, Ioanna Zouvani, Polycarpos Polycarpou, Alkis Pierides, Konstantinos Voskarides, Constantinos Deltas

published 16 Dec 2014

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Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G>A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss

Dongyan Fan, Wei Zhu, Dejun Li, De Ji, Ping Wang

published 04 Dec 2014

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A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias

Saima Siddiqi, Jia Nee Foo, Anthony Vu, Saad Azim, David L. Silver, Atika Mansoor, Stacey Kiat Hong Tay, Sumiya Abbasi, Asraf Hussain Hashmi, Jamal Janjua, Sumbal Khalid, E. Shyong Tai, Gene W. Yeo, Chiea Chuen Khor

published 04 Dec 2014

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The Evolutionary Fate of the Horizontally Transferred Agrobacterial Mikimopine Synthase Gene in the Genera Nicotiana and Linaria

Viera Kovacova, Jitka Zluvova, Bohuslav Janousek, Martina Talianova, Boris Vyskot

published 24 Nov 2014

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Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

Michel Guipponi, Federico A. Santoni, Vincent Setola, Corinne Gehrig, Maud Rotharmel, Macarena Cuenca, Olivier Guillin, Dimitris Dikeos, Georgios Georgantopoulos, George Papadimitriou, Logos Curtis, Alexandre Méary, Franck Schürhoff, Stéphane Jamain, Dimitri Avramopoulos, Marion Leboyer, Dan Rujescu, Ann Pulver, Dominique Campion, David P. Siderovski, Stylianos E. Antonarakis

published 24 Nov 2014

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Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

Alireza Haghighi, Amit Tiwari, Niloofar Piri, Gudrun Nürnberg, Nasrollah Saleh-Gohari, Amirreza Haghighi, John Neidhardt, Peter Nürnberg, Wolfgang Berger

published 13 Nov 2014

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The NOD2 p.Leu1007fsX1008 Mutation (rs2066847) Is a Stronger Predictor of the Clinical Course of Crohn's Disease than the FOXO3A Intron Variant rs12212067

Fabian Schnitzler, Matthias Friedrich, Christiane Wolf, Marianne Angelberger, Julia Diegelmann, Torsten Olszak, Florian Beigel, Cornelia Tillack, Johannes Stallhofer, Burkhard Göke, Jürgen Glas, Peter Lohse, Stephan Brand

published 03 Nov 2014

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Expression of Truncated PITX3 in the Developing Lens Leads to Microphthalmia and Aphakia in Mice

Kenta Wada, Yoshibumi Matsushima, Tomoki Tada, Sayaka Hasegawa, Yo Obara, Yasuhiro Yoshizawa, Gou Takahashi, Hiroshi Hiai, Midori Shimanuki, Sari Suzuki, Junichi Saitou, Naoki Yamamoto, Masumi Ichikawa, Kei Watanabe, Yoshiaki Kikkawa

published 27 Oct 2014

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Missense Mutation Lys18Asn in Dystrophin that Triggers X-Linked Dilated Cardiomyopathy Decreases Protein Stability, Increases Protein Unfolding, and Perturbs Protein Structure, but Does Not Affect Protein Function

Surinder M. Singh, Swati Bandi, Dinen D. Shah, Geoffrey Armstrong, Krishna M. G. Mallela

published 23 Oct 2014

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The NPM1 Mutation Type Has No Impact on Survival in Cytogenetically Normal AML

Friederike Pastore, Philipp A. Greif, Stephanie Schneider, Bianka Ksienzyk, Gudrun Mellert, Evelyn Zellmeier, Jan Braess, Cristina M. Sauerland, Achim Heinecke, Utz Krug, Wolfgang E. Berdel, Thomas Buechner, Bernhard Woermann, Wolfgang Hiddemann, Karsten Spiekermann

published 09 Oct 2014

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Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

Satoshi Katagiri, Masakazu Akahori, Yuri Sergeev, Kazutoshi Yoshitake, Kazuho Ikeo, Masaaki Furuno, Takaaki Hayashi, Mineo Kondo, Shinji Ueno, Kazushige Tsunoda, Kei Shinoda, Kazuki Kuniyoshi, Yohinori Tsurusaki, Naomichi Matsumoto, Hiroshi Tsuneoka, Takeshi Iwata

published 30 Sep 2014

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