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Nonsense mutation

Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness

Asli Sirmaci, Yvonne J. K. Edwards, Hatice Akay, Mustafa Tekin

published 21 Feb 2012

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Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population

Katsuhiro Hosono, Chie Ishigami, Masayo Takahashi, Dong Ho Park, Yasuhiko Hirami, Hiroshi Nakanishi, Shinji Ueno, Tadashi Yokoi, Akiko Hikoya, Taichi Fujita, Yang Zhao, Sachiko Nishina, Jae Pil Shin, In Taek Kim, Shuichi Yamamoto, Noriyuki Azuma, Hiroko Terasaki, Miho Sato, Mineo Kondo, Shinsei Minoshima, Yoshihiro Hotta

published 17 Feb 2012

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Comparative Genomics of 2009 Seasonal Plague (Yersinia pestis) in New Mexico

Henry S. Gibbons, Michael D. Krepps, Gary Ouellette, Mark Karavis, Lisa Onischuk, Pascale Leonard, Stacey Broomall, Todd Sickler, Janet L. Betters, Paul McGregor, Greg Donarum, Alvin Liem, Ed Fochler, Lauren McNew, C. Nicole Rosenzweig, Evan Skowronski

published 16 Feb 2012

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Brd1 Gene in Maize Encodes a Brassinosteroid C-6 Oxidase

Irina Makarevitch, Addie Thompson, Gary J. Muehlbauer, Nathan M. Springer

published 26 Jan 2012

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Genetic and Epigenetic Alterations of the NF2 Gene in Sporadic Vestibular Schwannomas

Jong Dae Lee, Tae Jun Kwon, Un-Kyung Kim, Won-Sang Lee

published 25 Jan 2012

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HIV Pol Inhibits HIV Budding and Mediates the Severe Budding Defect of Gag-Pol

Xin Gan, Stephen J. Gould

published 03 Jan 2012

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Genetic Complexity of Fusidic Acid-Resistant Small Colony Variants (SCV) in Staphylococcus aureus

Jonas Lannergård, Sha Cao, Tobias Norström, Alejandro Delgado, John E. Gustafson, Diarmaid Hughes

published 29 Nov 2011

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Antigenic, Immunologic and Genetic Characterization of Rough Strains B.abortus RB51, B.melitensis B115 and B.melitensis B18

Rosanna Adone, Michele Muscillo, Giuseppina La Rosa, Massimiliano Francia, Michela Tarantino

published 31 Oct 2011

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Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

Slimane Allali, Jean-Baptiste Muller, Raja Brauner, Diana Lourenço, Radia Boudjenah, Vasiliki Karageorgou, Christine Trivin, Henri Lottmann, Stephen Lortat-Jacob, Claire Nihoul-Fékété, Olivier De Dreuzy, Ken McElreavey, Anu Bashamboo

published 20 Oct 2011

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The Immunophilin-Like Protein XAP2 Is a Negative Regulator of Estrogen Signaling through Interaction with Estrogen Receptor α

Wen Cai, Tatiana V. Kramarova, Petra Berg, Marta Korbonits, Ingemar Pongratz

published 03 Oct 2011

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Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India

Neeraj Kumar, Krishna Kant Taneja, Veena Kalra, Madhuri Behari, Satinder Aneja, Surendra Kumar Bansal

published 22 Sep 2011

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Angiomyolipoma Have Common Mutations in TSC2 but No Other Common Genetic Events

Wei Qin, Vineeta Bajaj, Izabela Malinowska, Xin Lu, Laura MacConaill, Chin-Lee Wu, David J. Kwiatkowski

published 16 Sep 2011

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Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

Cheol-Sang Hwang, Maja Sukalo, Olga Batygin, Marie-Claude Addor, Han Brunner, Antonio Perez Aytes, Julia Mayerle, Hyun Kyu Song, Alexander Varshavsky, Martin Zenker

published 13 Sep 2011

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