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Patients with SDHB mutations are prone to extra-adrenal pheochromocytomas, malignant disease and extra-paraganglial neoplasia, whereas SDHD mutations have a greater propensity for multiple, benign head and neck paragangliomas.
Individuals with germline Pten mutations are prone to tumors and may display brain disorders, including macrocephaly, seizures and mental retardation [2].
Given their Golgi localization, the observed defects in Golgi transport and morphology, COG subunit mutations are prone to affect the Golgi glycosylation processes.
In addition, cells which accumulate mutations are prone to apoptosis: Thus, mutation accumulation during the life of an organism may be underestimated.
Patients with SDHB mutations are prone to malignant head and neck paragangliomas with a high propensity for metastasis, whereas SDHD mutations typically manifest with multiple, benign head and neck paragangliomas with very rare occurrence of metastatic disease.
Definitive evidence would be in hand if restoration of wild-type hCdc4 in cell lines that harbor hCdc4 mutations inhibits their proliferation and tumorigenicity, if hCdc4 mutations are identified in primary tumors and/or human familial cancer pedigrees, and if mice with engineered Cdc4 mutations are prone to tumor formation.
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Moreover, the interpretation of complex mutations (e.g. double mutations) is prone to errors as only the ratio of the peak heights vary.
This study demonstrates that flotillins may not be suitable as cancer therapy targets in cells that carry certain other oncogenic mutations such as PI3K activating mutations, as unexpected effects are prone to emerge upon flotillin knockdown which may even facilitate cancer cell growth and proliferation.
For example, cancers that arise from BRCA1 mutations are specifically prone to PARP inhibitors.
Thus, indel mutations are more prone to sequencing errors with the Roche sequencing platform and should clearly be avoided in the Infinium assay.
Specifically, they were able to show that genes targeted by point mutations are more prone to occupy hubs in the corresponding protein interaction networks as opposed to genes that are not.
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