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Nonsense mutation

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

Yanqiu Liu, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man, Lique Du, Hui Zhu, Zelan Qu, Ping Tian, Bing Mao, Yun Yang

published 14 Aug 2015

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Loss-of-Function PTPRD Mutations Lead to Increased STAT3 Activation and Sensitivity to STAT3 Inhibition in Head and Neck Cancer

Noah D. Peyser, Yu Du, Hua Li, Vivian Lui, Xiao Xiao, Timothy A. Chan, Jennifer R. Grandis

published 12 Aug 2015

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Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population

Edward S. Y. Wong, Sandhya Shekar, Claire H. T. Chan, Lewis Z. Hong, Suk-Yean Poon, Toomas Silla, Clarabelle Lin, Vikrant Kumar, Sonia Davila, Mathijs Voorhoeve, Aye Aye Thike, Gay Hui Ho, Yoon Sim Yap, Puay Hoon Tan, Min-Han Tan, Peter Ang, Ann S. G. Lee

published 29 Jul 2015

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A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1

Irene Johnsrud, Mari Ann Kulseth, Olaug Kristin Rødningen, Linn Landrø, Per Helsing, Erik Waage Nielsen, Ketil Heimdal

published 08 Jul 2015

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Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array

Mayuko Tamura, Tsuyoshi Isojima, Minae Kawashima, Hideki Yoshida, Keiko Yamamoto, Taichi Kitaoka, Noriyuki Namba, Akira Oka, Keiichi Ozono, Katsushi Tokunaga, Sachiko Kitanaka

published 08 Jul 2015

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Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families

Sundaramurthy Srilekha, Tharigopala Arokiasamy, Natarajan N. Srikrupa, Vetrivel Umashankar, Swaminathan Meenakshi, Parveen Sen, Suman Kapur, Nagasamy Soumittra

published 06 Jul 2015

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A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family

Xiaotong Zhuang, Lianqing Wang, Zixun Song, Wei Xiao

published 06 Jul 2015

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Analytical Validation of AmpliChip p53 Research Test for Archival Human Ovarian FFPE Sections

Matthew J. Marton, Andrew R. McNamara, D. Michele Nikoloff, Aki Nakao, Jonathan Cheng

published 30 Jun 2015

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Novel Functions and Regulation of Cryptic Cellobiose Operons in Escherichia coli

Vinuselvi Parisutham, Sung Kuk Lee

published 29 Jun 2015

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Optimization of Mutation Pressure in Relation to Properties of Protein-Coding Sequences in Bacterial Genomes

Paweł Błażej, Błażej Miasojedow, Małgorzata Grabińska, Paweł Mackiewicz

published 29 Jun 2015

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Identification of a Novel p.Q1772X ANK1 Mutation in a Korean Family with Hereditary Spherocytosis

Joo Hyung Han, Seung Kim, Hoon Jang, So Won Kim, Min Goo Lee, Hong Koh, Ji Hyun Lee

published 24 Jun 2015

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Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy

Sachie Nakano, Takahiro Tsukimura, Tadayasu Togawa, Toya Ohashi, Masahisa Kobayashi, Katsuyoshi Takayama, Yukuharu Kobayashi, Hiroshi Abiko, Masatsugu Satou, Tohru Nakahata, David G. Warnock, Hitoshi Sakuraba, Futoshi Shibasaki

published 17 Jun 2015

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JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

Liting Li, Jibin Dong, Xiaohong Wang, Hongmei Guo, Huijun Wang, Jing Zhao, Yiling Qiu, Kuerbanjiang Abuduxikuer, Jianshe Wang

published 15 Jun 2015

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