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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, [ ... ], Xiaowen Ding

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, [ ... ], Mariette Kemner-van de Corput

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

Yemin Wang, Valerie Lan Tao, [ ... ], David G. Huntsman

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, [ ... ], Wook-Jin Chung

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

Annalaura Torella, Mariateresa Zanobio, [ ... ], Vincenzo Nigro

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, [ ... ], Abdalla Awidi

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

Lorenza Mittempergher, Anna M. Piskorz, [ ... ], René Bernards

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

Shalini H. Kumar, Kalpana Athimoolam, [ ... ], Lakshmi Bremadesam Raman

Molecular subtypes in canine hemangiosarcoma reveal similarities with human angiosarcoma

Guannan Wang, Ming Wu, [ ... ], David B. Roth

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

Elena Díaz-Casado, Ricardo Gómez-Nieto, [ ... ], Dolores E. López

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

Sindhu Nair, Hoa Q. Trummell, [ ... ], Markus Bredel

Somatic mutations in intracranial arteriovenous malformations

Jeremy A. Goss, August Y. Huang, [ ... ], Arin K. Greene

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

Jie Liu, Weiwei Zhao, [ ... ], Nanshan Zhong

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