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Frameshift mutation

Mutation in BMPR2 Promoter: A ‘Second Hit’ for Manifestation of Pulmonary Arterial Hypertension?

Rebecca Rodríguez Viales, Christina A. Eichstaedt, Nicola Ehlken, Christine Fischer, Mona Lichtblau, Ekkehard Grünig, Katrin Hinderhofer

published 13 Jul 2015

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Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A

Korcan Demir, Walaa E. Kattan, Minjing Zou, Erdem Durmaz, Huda BinEssa, Özlem Nalbantoğlu, Roua A. Al-Rijjal, Brian Meyer, Behzat Özkan, Yufei Shi

published 01 Jul 2015

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Genetic Analysis of T Cell Lymphomas in Carbon Ion-Irradiated Mice Reveals Frequent Interstitial Chromosome Deletions: Implications for Second Cancer Induction in Normal Tissues during Carbon Ion Radiotherapy

Benjamin J. Blyth, Shizuko Kakinuma, Masaaki Sunaoshi, Yoshiko Amasaki, Shinobu Hirano-Sakairi, Kanae Ogawa, Ayana Shirakami, Yi Shang, Chizuru Tsuruoka, Mayumi Nishimura, Yoshiya Shimada

published 30 Jun 2015

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Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism

Suzanne I. M. Alsters, Anthony P. Goldstone, Jessica L. Buxton, Anna Zekavati, Alona Sosinsky, Andrianos M. Yiorkas, Susan Holder, Robert E. Klaber, Nicola Bridges, Mieke M. van Haelst, Carel W. le Roux, Andrew J. Walley, Robin G. Walters, Michael Mueller, Alexandra I. F. Blakemore

published 29 Jun 2015

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Reconstitution of TGFBR2-Mediated Signaling Causes Upregulation of GDF-15 in HCT116 Colorectal Cancer Cells

Jennifer Lee, Fabia Fricke, Uwe Warnken, Martina Schnölzer, Jürgen Kopitz, Johannes Gebert

published 26 Jun 2015

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Genome Analysis of the First Extensively Drug-Resistant (XDR) Mycobacterium tuberculosis in Malaysia Provides Insights into the Genetic Basis of Its Biology and Drug Resistance

Chee Sian Kuan, Chai Ling Chan, Su Mei Yew, Yue Fen Toh, Jia-Shiun Khoo, Jennifer Chong, Kok Wei Lee, Yung-Chie Tan, Wai-Yan Yee, Yun Fong Ngeow, Kee Peng Ng

published 25 Jun 2015

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Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

Sara L. Ma, Virginia Vega-Warner, Christopher Gillies, Matthew G. Sampson, Vijay Kher, Sidharth K. Sethi, Edgar A. Otto

published 24 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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GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss

Jing Zheng, Zhengbiao Ying, Zhaoyang Cai, Dongmei Sun, Zheyun He, Yinglong Gao, Ting Zhang, Yi Zhu, Ye Chen, Min-Xin Guan

published 04 Jun 2015

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An Aberrant Splice Acceptor Site Due to a Novel Intronic Nucleotide Substitution in MSX1 Gene Is the Cause of Congenital Tooth Agenesis in a Japanese Family

Tadashi Tatematsu, Masashi Kimura, Mitsuko Nakashima, Junichiro Machida, Seishi Yamaguchi, Akio Shibata, Hiroki Goto, Atsuo Nakayama, Yujiro Higashi, Hitoshi Miyachi, Kazuo Shimozato, Naomichi Matsumoto, Yoshihito Tokita

published 01 Jun 2015

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Targeted Next-Generation Sequencing in Uyghur Families with Non-Syndromic Sensorineural Hearing Loss

Ying Chen, Zhentao Wang, Zhaoyan Wang, Dongye Chen, Yongchuan Chai, Xiuhong Pang, Lianhua Sun, Xiaowen Wang, Tao Yang, Hao Wu

published 26 May 2015

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Amplicon Sequencing of Colorectal Cancer: Variant Calling in Frozen and Formalin-Fixed Samples

Johannes Betge, Grainne Kerr, Thilo Miersch, Svenja Leible, Gerrit Erdmann, Christian L. Galata, Tianzuo Zhan, Timo Gaiser, Stefan Post, Matthias P. Ebert, Karoline Horisberger, Michael Boutros

published 26 May 2015

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Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing

Soo Min Han, Byungjin Hwang, Tae-gun Park, Do-Il Kim, Moo-Yong Rhee, Byoung-Kwon Lee, Young Keun Ahn, Byung Ryul Cho, Jeongtaek Woo, Seung-Ho Hur, Jin-Ok Jeong, Sungha Park, Yangsoo Jang, Min Goo Lee, Duhee Bang, Ji Hyun Lee, Sang-Hak Lee

published 11 May 2015

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