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Nonsense mutation

Identification of a 6-gene signature for the survival prediction of breast cancer patients based on integrated multi-omics data analysis

Wenju Mo, Yuqin Ding, Shuai Zhao, Dehong Zou, Xiaowen Ding

published 10 Nov 2020

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Chest computed tomography outcomes in a randomized clinical trial in cystic fibrosis: Lessons learned from the first ataluren phase 3 study

Harm A. W. M. Tiddens, Eleni-Rosalina Andrinopoulou, Joe McIntosh, J. Stuart Elborn, Eitan Kerem, Nynke Bouma, Jochem Bosch, Mariette Kemner-van de Corput

published 03 Nov 2020

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Establishment and characterization of VOA1066 cells: An undifferentiated endometrial carcinoma cell line

Yemin Wang, Valerie Lan Tao, Chae Young Shin, Clara Salamanca, Shary Yuting Chen, Christine Chow, Martin Köbel, Susana Ben-Neriah, David Farnell, Christian Steidl, Jessica N. Mcalpine, C. Blake Gilks, David G. Huntsman

published 14 Oct 2020

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Prevalence and clinical features of bone morphogenetic protein receptor type 2 mutation in Korean idiopathic pulmonary arterial hypertension patients: The PILGRIM explorative cohort

Albert Youngwoo Jang, Bo-Gyeong Kim, Sunkoo Kwon, Jiyoung Seo, Hyung Kwan Kim, Hyuk-Jae Chang, Sung-A Chang, Goo-Yeong Cho, Sang Jae Rhee, Hae Ok Jung, Kyung-Hee Kim, Hye Sun Seo, Kye Hun Kim, Jinho Shin, Jun Soo Lee, Minsu Kim, Young Jae Lee, Wook-Jin Chung

published 23 Sep 2020

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The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli, Francesca del Vecchio Blanco, Marco Savarese, Teresa Giugliano, Arcomaria Garofalo, Giulio Piluso, Luisa Politano, Vincenzo Nigro

published 19 Aug 2020

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Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents

Nidaa A. Ababneh, Dema Ali, Ban Al-Kurdi, Malik Sallam, Abdulla M. Alzibdeh, Bareqa Salah, Abdee T. Ryalat, Belal Azab, Basil Sharrack, Abdalla Awidi

published 04 Aug 2020

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Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene

Lorenza Mittempergher, Anna M. Piskorz, Astrid J. Bosma, Magali Michaut, G. Bea A. Wisman, Roelof J. C. Kluin, Marja Nieuwland, Wim Brugman, Kevin J. W. van der Ven, Francesco Marass, James Morris, Nitzan Rosenfeld, Mercedes Jimenez-Linan, Steven de Jong, Ate G. J. van der Zee, James D. Brenton, René Bernards

published 08 Jul 2020

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Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities

Shalini H. Kumar, Kalpana Athimoolam, Manikandan Suraj, Mary Shoba Das Christu Das, Aparna Muralidharan, Divya Jeyam, Jaicy Ashokan, Priya Karthikeyan, Ragav Krishna, Arati Khanna-Gupta, Lakshmi Bremadesam Raman

published 19 Jun 2020

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Molecular subtypes in canine hemangiosarcoma reveal similarities with human angiosarcoma

Guannan Wang, Ming Wu, Amy C. Durham, Enrico Radaelli, Nicola J. Mason, XiaoWei Xu, David B. Roth

published 25 Mar 2020

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Analysis of gene variants in the GASH/Sal model of epilepsy

Elena Díaz-Casado, Ricardo Gómez-Nieto, José M. de Pereda, Luis J. Muñoz, María Jara-Acevedo, Dolores E. López

published 13 Mar 2020

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Novel EGFR ectodomain mutations associated with ligand-independent activation and cetuximab resistance in head and neck cancer

Sindhu Nair, Hoa Q. Trummell, Rajani Rajbhandari, Nanda K. Thudi, Susan E. Nozell, Jason M. Warram, Christopher D. Willey, Eddy S. Yang, William J. Placzek, James A. Bonner, Markus Bredel

published 18 Feb 2020

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Somatic mutations in intracranial arteriovenous malformations

Jeremy A. Goss, August Y. Huang, Edward Smith, Dennis J. Konczyk, Patrick J. Smits, Christopher L. Sudduth, Christopher Stapleton, Aman Patel, Sanda Alexandrescu, Matthew L. Warman, Arin K. Greene

published 31 Dec 2019

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Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM)

Jie Liu, Weiwei Zhao, Xiaohua Ou, Zhen Zhao, Changming Hu, Mingming Sun, Feifei Liu, Junhao Deng, Weili Gu, Jiaying An, Qingling Zhang, Xiaoxian Zhang, Jiaxing Xie, Shiyue Li, Rongchang Chen, Shihui Yu, Nanshan Zhong

published 19 Dec 2019

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