https://ogma.newcastle.edu.au/vital/access/manager/Index ${session.getAttribute("locale")} 5 Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:10419 A) in a published family with nonsyndromic MR, MRX13. This change occurs in a highly conserved amino acid, with proline (P) being substituted by threonine (T) (p.P544T). Functional analysis shows that this amino-acid substitution compromises both tri- and didemethylase activity of the JARID1C protein. We conclude that the two novel changes impair JARID1C protein function and are disease-causing mutations in these families.]]> Sat 24 Mar 2018 08:12:38 AEDT ]]> Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:5122 Sat 24 Mar 2018 07:48:57 AEDT ]]> Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:5093 Sat 24 Mar 2018 07:48:50 AEDT ]]> SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome https://ogma.newcastle.edu.au/vital/access/manager/Repository/uon:5320 Sat 24 Mar 2018 07:45:58 AEDT ]]>