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Point mutation

X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myskóva, Mariela Roxana Monti, Carlos Enrique Argaraña, Masashi Morita, Stephan Kemp, Raquel Dodelson de Kremer, Lenka Dvoráková, Ana María Oller de Ramírez

published 31 Dec 2012

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Specificity and Versatility of Substrate Binding Sites in Four Catalytic Domains of Human N-Terminal Acetyltransferases

Cédric Grauffel, Angèle Abboud, Glen Liszczak, Ronen Marmorstein, Thomas Arnesen, Nathalie Reuter

published 28 Dec 2012

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High-Throughput Mutation Profiling of Primary and Metastatic Endometrial Cancers Identifies KRAS, FGFR2 and PIK3CA to Be Frequently Mutated

Camilla Krakstad, Even Birkeland, Danila Seidel, Kanthida Kusonmano, Kjell Petersen, Siv Mjøs, Erling A. Hoivik, Elisabeth Wik, Mari Kyllesø Halle, Anne M. Øyan, Karl-Henning Kalland, Henrica Maria Johanna Werner, Jone Trovik, Helga Salvesen

published 27 Dec 2012

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Cataracts and Microphthalmia Caused by a Gja8 Mutation in Extracellular Loop 2

Chun-hong Xia, Bo Chang, Adam M. DeRosa, Catherine Cheng, Thomas W. White, Xiaohua Gong

published 26 Dec 2012

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Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Kerstin Knies, Beatrice Schuster, Najim Ameziane, Martin Rooimans, Thomas Bettecken, Johan de Winter, Detlev Schindler

published 20 Dec 2012

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A Mouse Model for Osseous Heteroplasia

Michael T. Cheeseman, Kate Vowell, Tertius A. Hough, Lynn Jones, Paras Pathak, Hayley E. Tyrer, Michelle Kelly, Roger Cox, Madhuri V. Warren, Jo Peters

published 19 Dec 2012

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Non-Random mtDNA Segregation Patterns Indicate a Metastable Heteroplasmic Segregation Unit in m.3243A>G Cybrid Cells

Anton K. Raap, Roshan S. Jahangir Tafrechi, Frans M. van de Rijke, Angela Pyle, Carolina Wählby, Karoly Szuhai, Raimond B. G. Ravelli, René F. M. de Coo, Harsha K. Rajasimha, Mats Nilsson, Patrick F. Chinnery, David C. Samuels, George M. C. Janssen

published 18 Dec 2012

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Whole Genome Characterization, Phylogenetic and Genome Signature Analysis of Human Pandemic H1N1 Virus in Thailand, 2009–2012

Jarika Makkoch, Kamol Suwannakarn, Sunchai Payungporn, Slinporn Prachayangprecha, Thaweesak Cheiocharnsin, Piyada Linsuwanon, Apiradee Theamboonlers, Yong Poovorawan

published 12 Dec 2012

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Non-Invasive Prenatal Diagnosis of Multiple Endocrine Neoplasia Type 2A Using COLD-PCR Combined with HRM Genotyping Analysis from Maternal Serum

Hada C. Macher, Maria A. Martinez-Broca, Amalia Rubio-Calvo, Cristina Leon-Garcia, Manuel Conde-Sanchez, Alzenira Costa, Elena Navarro, Juan M. Guerrero

published 07 Dec 2012

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Mutations of the EPHB6 Receptor Tyrosine Kinase Induce a Pro-Metastatic Phenotype in Non-Small Cell Lung Cancer

Etmar Bulk, Jun Yu, Antje Hascher, Steffen Koschmieder, Rainer Wiewrodt, Utz Krug, Bernd Timmermann, Alessandro Marra, Ludger Hillejan, Karsten Wiebe, Wolfgang E. Berdel, Albrecht Schwab, Carsten Müller-Tidow

published 04 Dec 2012

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Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) Are Two New Mutations of Lmx1a Causing Severe Cochlear and Vestibular Defects

Georg Steffes, Beatriz Lorente-Cánovas, Selina Pearson, Rachael H. Brooker, Sarah Spiden, Amy E. Kiernan, Jean-Louis Guénet, Karen P. Steel

published 30 Nov 2012

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Identification and Characterisation of the RalA-ERp57 Interaction: Evidence for GDI Activity of ERp57

Adam Brymora, Iain G. Duggin, Leise A. Berven, Ellen M. van Dam, Basil D. Roufogalis, Phillip J. Robinson

published 30 Nov 2012

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A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis

Jianning Tao, Maranke I. Koster, Wilbur Harrison, Jennifer L. Moran, David R. Beier, Dennis R. Roop, Paul A. Overbeek

published 30 Nov 2012

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