Agbaga MP (2016) Different mutations in ELOVL4 affect very long chain fatty acid biosynthesis to cause variable neurological disorders in humans. Adv Exp Med Biol 854:129-135. https:// doi.org/10.1007/978-3-319-17121-0_18M.-P. Agbaga, Different mutations in ELOVL4 affect very long ...
Point mutations in PDE4D have been recently linked to acrodysostosis, an autosomal dominant disorder with skeletal dysplasia, severe brachydactyly, midfacial hypoplasia and intellectual disability. The purpose of the present study was to investigate clinical and cellular implications of different types of...
In humans with Rett, this type of MECP2 gene deletion does not exist. All the cells in females with Rett have an MECP2 mutation inherited from one parent on the X chromosome, but only half of the cells express the mutant gene. This means the other half of the cells with a wild-typ...
Reverse genetic H5N1 strains with individual mutations in either the conformational or the linear epitope were generated and characterized in a series of assays, including HI, postattachment, and cell-cell fusion inhibition assays. The results indicate that for 8A8, virus neutralization mediated by ...
The assumption that papillomaviruses evolve only by genetic drift implies that mutations became fixed at the same rate across the different ORFs. Since this is not the case (see above and Garcia-Vallve et al. (2005) and Rector et al. (2007)), evolutionary forces must differentially affect eac...
From those mutations come the dramatic differences in the species that we see today — differences in intelligence, anatomy, lifestyle and, not least, success at colonizing the planet. This article was provided by Life's Little Mysteries, a sister site to LiveScience. Follow us on Twitter @ll...
apparent in the different phenotypes of Bruton's tyrosine kinase deficiency in mice and humans. Mutations of Bruton's tyrosine kinase, which is critical for B-cell development and function, cause an almost total B-cell developmental block in humans that manifests as X-linked agammaglobulinemia....
Many of these mutations cause comorbidities such as epilepsy and intellectual disabilities (ID). In this study, we measured cortical neurons derived from induced pluripotent stem cells (iPSCs) of patients with four mutations in the genes GRIN2B, SHANK3, UBTF, as well as chromosomal duplication ...
The majority of human PLP1 mutations are caused by duplications; almost all others are caused by missense mutations. The cellular events leading to the phenotype are unknown. The same mutations in non-humans make them ideal models to study the mechanisms that cause neurological sequelae. In the ...
Crew VK,,Mallinson G,Gree C,et al.Different inactivating mutations in the LU genes of three individuals with the Luther-an-null phenotype. Transfusion . 2007Karamatic Crew VK, Mallinson G, Green C, et al.: Different inactivating mutations in the LU genes of three individuals with the ...