Results 271 to 280 of about 714,661 (305)

Fragile X syndrome due to a missense mutation

European Journal of Human Genetics, 2014
Fragile X syndrome is a common inherited form of intellectual disability and autism spectrum disorder. Most patients exhibit a massive CGG-repeat expansion mutation in the FMR1 gene that silences the locus. In over two decades since the discovery of FMR1,
Stephen T. Warren, Xiaodong Cheng, Leila K Myrick   +2 more
exaly   +2 more sources

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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.
Xue Lei, Boshen Wang, Alan Perez-Rathke, Wei Tian 0003, Chia-Yi Chou, Yan-Yuan Tseng, Jie Liang 0002   +6 more
openaire   +3 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
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Two Novel Missense Mutations in Nonketotic Hyperglycinemia

Journal of Child Neurology, 2014
Nonketotic hyperglycinemia (OMIM no. 605899) is an autosomal recessively inherited glycine encephalopathy, caused by a deficiency in the mitochondrial glycine cleavage system. Here we report 2 neonates who were admitted to the hospital with complaints of respiratory failure and myoclonic seizures with an elevated cerebrospinal fluid/plasma glycine ...
Yilmaz B.S., Kor D., Ceylaner S., Mert G.G., Incecik F., Kartal E., Mungan N.O.   +6 more
openaire   +3 more sources

A missense mutation in LRR8 of RXFP2 is associated with cryptorchidism

Mammalian Genome, 2010
Using genome-wide mutagenesis with N-ethyl-N-nitrosourea (ENU), a mouse mutant with cryptorchidism was identified. Genome mapping and exon sequencing identified a novel missense mutation (D294G) in Relaxin/insulin-like family peptide receptor 2 (Rxfp2).
Rebecca M, Harris, Courtney, Finlayson, Jeffrey, Weiss, Lisa, Fisher, Lisa, Hurley, Tim, Barrett, Donna, Emge, Ross A D, Bathgate, Alexander I, Agoulnik, J Larry, Jameson   +9 more
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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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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
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Missense Mutation

2008
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Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

Biomedicines, 2022
Salvatore Saccone, Francesco Cali, Concetta Federico   +2 more
exaly