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Nonsense mutation

Robust Stimulation of W1282X-CFTR Channel Activity by a Combination of Allosteric Modulators

Wei Wang, Jeong S. Hong, Andras Rab, Eric J. Sorscher, Kevin L. Kirk

published 23 Mar 2016

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Structure of the Intermediate Filament-Binding Region of Desmoplakin

Hyunook Kang, Thomas M. Weiss, Injin Bang, William I. Weis, Hee-Jung Choi

published 25 Jan 2016

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FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients

Avani Solanki, Purvi Mohanty, Pallavi Shukla, Anita Rao, Kanjaksha Ghosh, Babu Rao Vundinti

published 22 Jan 2016

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Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies

Zhi Yon Charles Toh, May Thandar Aung-Htut, Gavin Pinniger, Abbie M. Adams, Sudarsan Krishnaswarmy, Brenda L. Wong, Sue Fletcher, Steve D. Wilton

published 08 Jan 2016

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A20 Mutation Is Not a Prognostic Marker for Activated B-Cell-Like Diffuse Large B-Cell Lymphoma

Hong Cen, Xiaohong Tan, Baoping Guo

published 30 Dec 2015

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Prevalence of Titin Truncating Variants in General Population

Oyediran Akinrinade, Juha W. Koskenvuo, Tero-Pekka Alastalo

published 23 Dec 2015

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Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center

Isabella Giovannoni, Francesco Callea, Emanuele Bellacchio, Giuliano Torre, Jean De Ville De Goyet, Paola Francalanci

published 17 Dec 2015

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Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer

Eleonor Olsson, Christof Winter, Anthony George, Yilun Chen, Therese Törngren, Pär-Ola Bendahl, Åke Borg, Sofia K. Gruvberger-Saal, Lao H. Saal

published 15 Dec 2015

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Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification

Michael Vanlandewijck, Thibaud Lebouvier, Maarja Andaloussi Mäe, Khayrun Nahar, Simone Hornemann, David Kenkel, Sara I. Cunha, Johan Lennartsson, Andreas Boss, Carl-Henrik Heldin, Annika Keller, Christer Betsholtz

published 23 Nov 2015

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Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome

Toshiya Okumura, Kengo Furuichi, Tomomi Higashide, Mayumi Sakurai, Shin-ichi Hashimoto, Yasuyuki Shinozaki, Akinori Hara, Yasunori Iwata, Norihiko Sakai, Kazuhisa Sugiyama, Shuichi Kaneko, Takashi Wada

published 16 Nov 2015

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Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome

Kei-ichi Morita, Takuya Naruto, Kousuke Tanimoto, Chisato Yasukawa, Yu Oikawa, Kiyoshi Masuda, Issei Imoto, Johji Inazawa, Ken Omura, Hiroyuki Harada

published 06 Nov 2015

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Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association

Slađana Andrejević, Peter Korošec, Mira Šilar, Mitja Košnik, Radovan Mijanović, Branka Bonači-Nikolić, Matija Rijavec

published 04 Nov 2015

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Concurrent Mutations in ATM and Genes Associated with Common γ Chain Signaling in Peripheral T Cell Lymphoma

Haley M. Simpson, Rashid Z. Khan, Chang Song, Deva Sharma, Kavitha Sadashivaiah, Aki Furusawa, Xinyue Liu, Sushma Nagaraj, Naomi Sengamalay, Lisa Sadzewicz, Luke J. Tallon, Qing C. Chen, Ferenc Livak, Aaron P. Rapoport, Amy Kimball, Arnob Banerjee

published 04 Nov 2015

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