Results 351 to 360 of about 1,506,824 (383)

A rare germline BMP15 missense mutation causes hereditary ovarian immature teratoma in human. [PDF]

Proc Natl Acad Sci U S A
Liu Y, Fan H, Kang X, Hao Y, Wang N, Zheng H, Li Y, Kang S.   +7 more
europepmc   +1 more source

Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated With Hydrocephalus Using Next-Generation Sequencing. [PDF]

Cureus
Sotiriou S, Samara AA, Anastasakis E, Zikopoulos A, Papoulidis I, Manolakos E, Pavlidou E, Skentou C.   +7 more
europepmc   +1 more source

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

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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
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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
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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.
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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.
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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
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