Results 311 to 320 of about 241,061 (333)

A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia. [PDF]

BMC Pediatr
Huang D, Jiang M, Zhu Y, Li D, Lu X, Gao J.   +5 more
europepmc   +1 more source

Generation of two iPSC lines from vascular Ehlers-Danlos Syndrome (vEDS) patients carrying a missense mutation in COL3A1 gene. [PDF]

Stem Cell Res
Manhas A, Tripathi D, Noishiki C, Wu D, Liu L, Sallam K, Lee JT, Fukaya E, Sayed N.   +8 more
europepmc   +1 more source

Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7). [PDF]

Hum Mol Genet
Deuis JR, Kumble S, Keramidas A, Ragnarsson L, Simons C, Pais L, White SM, Vetter I.   +7 more
europepmc   +1 more source

KDM7A-DT induces genotoxic stress, tumorigenesis, and progression of p53 missense mutation-associated invasive breast cancer. [PDF]

Front Oncol
Giannakakis A, Tsifintaris M, Gouzouasis V, Ow GS, Aau MY, Papp C, Ivshina AV, Kuznetsov VA.   +7 more
europepmc   +1 more source

Real‐world outcomes of vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome at a tertiary referral centre

British Journal of Haematology, EarlyView.
Lucia Lee, Eric J. Zhao, Robert Schmidt, Alym Abdulla, Gayatri Sreenivasan, Kimberley Ambler, Megan Hiltz, Lynda Foltz, Vicki Chan, Alexandra Legge, Maggie Yuen, Lauren Lee, Paul Yenson, Thomas J. Nevill, Luke Y. C. Chen, Ryan J. Stubbins   +15 more
wiley   +1 more source

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Predicting Oncogenic Missense Mutations

2019 IEEE EMBS International Conference on Biomedical & Health Informatics (BHI), 2019
With the rapid progress of cancer genome studies, many missense mutations in populations of somatic cells of different cancer types and at different stages have been identified. However, it is challenging to understand the implications of these cancer-related variants.
Yan Yuan Tseng, Wei Tian, Chia-Yi Chou, Xue Lei, Jie Liang, Alan Perez-Rathke, Boshen Wang   +6 more
openaire   +3 more sources

Computational study of missense mutations in phenylalanine hydroxylase

Journal of Molecular Modeling, 2015
Hyperphenylalaninemia (HPA) is one of the most common metabolic disorders. HPA, which is transmitted by an autosomal recessive mode of inheritance, is caused by mutations of the phenylalanine hydroxylase gene. Most mutations are missense and lead to reduced protein stability and/or impaired catalytic function.
Réblová, Kamila, Kulhánek, Petr, Fajkusová, Lenka   +2 more
openaire   +3 more sources

BAP1 Missense Mutations in Cancer: Friend or Foe?

Trends in Cancer, 2019
BRCA-associated protein-1 (BAP1) is mutated in several cancers and a few therapies targeting BAP1 loss-of-function mutations have been proposed, some of them being already tested in clinical trials. However, most of the missense mutations have not been functionally characterized, although such information is essential for successful patient ...
Okonska, Agata, Felley-Bosco, Emanuela
openaire   +3 more sources

Making Sense of Missense Mutations

Science Translational Medicine, 2013
Genetic variation that is deleterious is on average younger than neutral variation.
openaire   +2 more sources