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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2010, Volume 107, Issue 45, pp. 19573 - 19578
Journal Article
Developmental Biology, ISSN 0012-1606, 11/2019
Journal Article
Frontiers in Life Science, ISSN 2155-3769, 01/2019, Volume 12, Issue 1, pp. 1 - 13
The CRISPR-Cas9 system, which uses sgRNA for targeting and the nuclease Cas9 for cleavage, has emerged as a versatile and efficient tool for genome... 
gene editing | Crispr-Cas9 | loss-of-function
Journal Article
International Journal of Cancer, ISSN 0020-7136, 02/2020, Volume 146, Issue 4, pp. 1042 - 1051
Esophageal squamous cell carcinoma (ESCC) occurs with highest frequency in China with over 90% mortality, highlighting the need for early detection and... 
Chinese | BRCA2 | esophageal cancer susceptibility gene | synthetic lethality | loss‐of‐function mutations
Journal Article
The EMBO Journal, ISSN 0261-4189, 12/2019, Volume 38, Issue 24, pp. e101196 - n/a
Parkinson's disease (PD) is neurodegenerative movement disorder characterized by degeneration of midbrain‐type dopamine (mDA) neurons in the substantia nigra... 
human disease model | Parkinson's disease | human pluripotent stem cells | loss‐of‐function mutation | Lin28
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 11/2019
Journal Article
European Journal of Neuroscience, ISSN 0953-816X, 12/2019, Volume 50, Issue 12, pp. 3906 - 3920
Glycine transporter 2 (GlyT2) mutations across the entire sequence have been shown to represent the presynaptic component of the neurological disease... 
protein transport | glycine transporter 2 | loss of function | glycine uptake | structural disruption | presynaptic hyperekplexia
Journal Article
BMC Cancer, ISSN 1471-2407, 12/2020, Volume 20, Issue 1, pp. 1 - 12
Abstract Background The SWI/SNF complex is an important chromatin remodeler, commonly dysregulated in cancer, with an estimated mutation frequency of 20%.... 
TP53 loss | Loss-of-function | Heterogeneity | SWI/SNF-complex | Oesophageal adenocarcinoma
Journal Article
Journal of Clinical and Diagnostic Research, ISSN 2249-782X, 10/2018, Volume 12, Issue 10, pp. VC01 - VC05
Journal Article
Cell Cycle, ISSN 1538-4101, 12/2019, Volume 18, Issue 24, pp. 3442 - 3455
P53 is a critical tumor suppressor gene, activating p53 and its downstream targets to induce apoptosis is a promising way for cancer therapy. However, more... 
chemotherapy resistance | Mutant p53 | loss-of-function | PUMA | colon cancer
Journal Article
Journal of Autoimmunity, ISSN 0896-8411, 01/2020, Volume 106, p. 102349
Genome-wide association studies have identified over 120 risk loci for psoriasis. However, most of the variations are located in non-coding region with high... 
C3 | Loss-of-function variants | Psoriasis | De novo mutation | Monozygotic twins
Journal Article
Cell, ISSN 0092-8674, 12/2015, Volume 163, Issue 6, pp. 1314 - 1325
Journal Article
Nature, ISSN 0028-0836, 07/2017, Volume 547, Issue 7664, pp. 413 - 418
Immunotherapy with PD-1 checkpoint blockade is effective in only a minority of patients with cancer, suggesting that additional treatment strategies are... 
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