Results 201 to 210 of about 151,372 (221)

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

Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature. [PDF]

Clin Case Rep
Paschell P, Laukaitis C.
europepmc   +1 more source

A missense mutation in the barley Xan-h gene encoding the Mg-chelatase subunit I leads to a viable pale green line with reduced daily transpiration rate. [PDF]

Plant Cell Rep
Persello A, Tadini L, Rotasperti L, Ballabio F, Tagliani A, Torricella V, Jahns P, Dalal A, Moshelion M, Camilloni C, Rosignoli S, Hansson M, Cattivelli L, Horner DS, Rossini L, Tondelli A, Salvi S, Pesaresi P.   +17 more
europepmc   +1 more source

Identification of a Novel Germline PPP4R3A Missense Mutation Asp409Asn on Familial Non-Medullary Thyroid Carcinoma. [PDF]

Biomedicines
Hu Y, Han Z, Guo H, Zhang N, Shen N, Jiang Y, Huang T.   +6 more
europepmc   +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

Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability

Psychiatric Genetics, 2016
Non-syndromic autosomal recessive intellectual disability (ID) is a genetically heterogeneous disorder with more than 50 mutated genes to date. ID is characterized by deficits in memory skills and language development with difficulty in learning, problem solving, and adaptive behaviors, and affects ∼ 1% of the population.
Peter John, John B. Vincent, Kirti Mittal, Attya Bhatti, Muhammad Rafiq, Mehrnaz Ohadi, Melissa T. Carter, Muhammad Ayub, Nasim Vasli, Iltaf Ahmed, Anna Mikhailov, Danielle M. Andrade   +11 more
openaire   +3 more sources