Results 131 to 140 of about 154,327 (166)

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.
Xue Lei, Boshen Wang, Alan Perez-Rathke, Wei Tian 0003, Chia-Yi Chou, Yan-Yuan Tseng, Jie Liang 0002   +6 more
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.
Nasim, Vasli, Iltaf, Ahmed, Kirti, Mittal, Mehrnaz, Ohadi, Anna, Mikhailov, Muhammad A, Rafiq, Attya, Bhatti, Melissa T, Carter, Danielle M, Andrade, Muhammad, Ayub, John B, Vincent, Peter, John   +11 more
openaire   +2 more sources

Novel missense mutations in PAX9 causing oligodontia

Archives of Oral Biology, 2012
We investigated the disease-causing gene of oligodontia in Chinese families and analysed the pathogenesis of mutations of this gene that results in oligodontia.Two families with oligodontia, but of different descent and 100 unrelated healthy controls were enrolled in our study. Genomic DNA was isolated from blood samples.
Jia, Liang, Guangtai, Song, Qing, Li, Zhuan, Bian   +3 more
openaire   +2 more sources

Making Sense of Missense Mutations

Science Translational Medicine, 2013
Genetic variation that is deleterious is on average younger than neutral variation.
openaire   +1 more source

A missense mutation associated with schizophrenia

Trends in Genetics, 2001
Schizophrenia is a complex heterogeneous syndrome, involving both environmental and genetic factors. Although a familial subtype of catatonic schizophrenia is transmitted in an autosomal dominant manner, the gene responsible has eluded scientists. Recently, however, a German group led by K.P.
openaire   +1 more source

DynaMut2: Assessing changes in stability and flexibility upon single and multiple point missense mutations

Protein Science, 2021
CARLOS H M Rodrigues, Douglas E V Pires, David B Ascher   +2 more
exaly  

Missense mutation in the choroideremia gene

Human Molecular Genetics, 1994
P, Donnelly, H, Menet, C, Fouanon, O, Herbert, J P, Moisan, M G, Le Roux, O, Pascal   +6 more
openaire   +2 more sources

Missense Mutation

2008
  +4 more sources

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Genetics in Medicine, 2022
Elke De Boer, Charlotte W Ockeloen, Brad Angle   +2 more
exaly