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Mutation

A Fox2-Dependent Fatty Acid ß-Oxidation Pathway Coexists Both in Peroxisomes and Mitochondria of the Ascomycete Yeast Candida lusitaniae

Frédéric Gabriel, Isabelle Accoceberry, Jean-Jacques Bessoule, Bénédicte Salin, Marine Lucas-Guérin, Stephen Manon, Karine Dementhon, Thierry Noël

published 08 Dec 2014

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Functional Study of One Nucleotide Mutation in Pri-MiR-125a Coding Region which Related to Recurrent Pregnancy Loss

Yi Hu, Zheng-Hao Huo, Chun-Mei Liu, Shi-Guo Liu, Ning Zhang, Kun-Lun Yin, Lu Qi, Xu Ma, Hong-Fei Xia

published 05 Dec 2014

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Spontaneous asj-2J Mutant Mouse as a Model for Generalized Arterial Calcification of Infancy: A Large Deletion/Insertion Mutation in the Enpp1 Gene

Qiaoli Li, C. Herbert Pratt, Louise A. Dionne, Heather Fairfield, Son Yong Karst, John P. Sundberg, Jouni Uitto

published 05 Dec 2014

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Insight into the Effect of Inhibitor Resistant S130G Mutant on Physico-Chemical Properties of SHV Type Beta-Lactamase: A Molecular Dynamics Study

Mohd Hassan Baig, D. Raja Sudhakar, Ponnusamy Kalaiarasan, Naidu Subbarao, Gulshan Wadhawa, Mohtashim Lohani, M Kalim A Khan, Asad U. Khan

published 05 Dec 2014

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Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle

John P. Grady, Julie L. Murphy, Emma L. Blakely, Ronald G. Haller, Robert W. Taylor, Doug M. Turnbull, Helen A. L. Tuppen

published 04 Dec 2014

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Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G>A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss

Dongyan Fan, Wei Zhu, Dejun Li, De Ji, Ping Wang

published 04 Dec 2014

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A Novel Splice-Site Mutation in ALS2 Establishes the Diagnosis of Juvenile Amyotrophic Lateral Sclerosis in a Family with Early Onset Anarthria and Generalized Dystonias

Saima Siddiqi, Jia Nee Foo, Anthony Vu, Saad Azim, David L. Silver, Atika Mansoor, Stacey Kiat Hong Tay, Sumiya Abbasi, Asraf Hussain Hashmi, Jamal Janjua, Sumbal Khalid, E. Shyong Tai, Gene W. Yeo, Chiea Chuen Khor

published 04 Dec 2014

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Molecular Characterization of an Intact p53 Pathway Subtype in High-Grade Serous Ovarian Cancer

Takahide Hayano, Yuki Yokota, Kazuyoshi Hosomichi, Hirofumi Nakaoka, Kosuke Yoshihara, Sosuke Adachi, Katsunori Kashima, Hitoshi Tsuda, Takuya Moriya, Kenichi Tanaka, Takayuki Enomoto, Ituro Inoue

published 02 Dec 2014

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Using a PyMOL Activity to Reinforce the Connection between Genotype and Phenotype in an Undergraduate Genetics Laboratory

Alexandra D. Simmons, Thao K. T. Nguyen, Jack L. Follis, Albert Ribes-Zamora

published 02 Dec 2014

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Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing

Shanshan Yu, Liyuan Chen, Lili Ye, Lingna Fei, Wei Tang, Yujiao Tian, Qian Geng, Xin Yi, Jiansheng Xie

published 02 Dec 2014

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TP53 Pro72 Allele Is Enriched in Oral Tongue Cancer and Frequently Mutated in Esophageal Cancer in India

Raju S. R. Adduri, Rajender Katamoni, Ramaswamy Pandilla, Sandeep N. Madana, Arun Kumar Paripati, Viswakalyan Kotapalli, Murali Dharan Bashyam

published 01 Dec 2014

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A Genomic Instability Score in Discriminating Nonequivalent Outcomes of BRCA1/2 Mutations and in Predicting Outcomes of Ovarian Cancer Treated with Platinum-Based Chemotherapy

Shaojun Zhang, Yuan Yuan, Dapeng Hao

published 01 Dec 2014

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Inhibition of Aurora Kinase B Is Important for Biologic Activity of the Dual Inhibitors of BCR-ABL and Aurora Kinases R763/AS703569 and PHA-739358 in BCR-ABL Transformed Cells

Anna L. Illert, Anna K. Seitz, Christoph Rummelt, Stefanie Kreutmair, Richard A. Engh, Samantha Goodstal, Christian Peschel, Justus Duyster, Nikolas von Bubnoff

published 26 Nov 2014

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