https://novaprd-lb.newcastle.edu.au/vital/access/manager/Index ${session.getAttribute("locale")} 5 https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:49792 Wed 31 May 2023 15:03:39 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:42508 Wed 24 Aug 2022 09:25:29 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:13486 Wed 11 Apr 2018 17:21:58 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:4489 Wed 11 Apr 2018 11:29:51 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:13986 Wed 11 Apr 2018 10:27:36 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:47840 Wed 01 Feb 2023 15:41:54 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:33639 Tue 03 Sep 2019 17:57:36 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:575 Thu 25 Jul 2013 09:10:29 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:508 Thu 25 Jul 2013 09:10:26 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:7 Thu 25 Jul 2013 09:10:12 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:451 Thu 25 Jul 2013 09:09:49 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:223 Thu 25 Jul 2013 09:09:37 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:228 Thu 25 Jul 2013 09:09:23 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:20133 Sat 24 Mar 2018 07:51:34 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:4978 2.0, 401 male MR sibships and 47 sporadic male patients with AHDS-like clinical features. One nonsense mutation (c.629insA) and two missense changes (c.1A>T and c.1673G>A) were identified. Consistent with previous reports on MCT8 missense changes, the patient with c.1673G>A showed elevated serum T3 level. The c.1A>T change in another patient affects a putative translation start codon, but the same change was present in his healthy brother. In addition normal serum T3 levels were present, suggesting that the c.1A>T (NM_006517) variation is not responsible for the MR phenotype but indicates that MCT8 translation likely starts with a methionine at position p.75. Moreover, we characterized a de novo translocation t(X;9)(q13.2;p24) in a female patient with full blown AHDS clinical features including elevated serum T3 levels. The MCT8 gene was disrupted at the X-breakpoint. A complete loss of MCT8 expression was observed in a fibroblast cell-line derived from this patient because of unfavorable nonrandom X-inactivation. Taken together, these data indicate that MCT8 mutations are not common in non-AHDS MR patients yet they support that elevated serum T3 levels can be indicative for AHDS and that AHDS clinical features can be present in female MCT8 mutation carriers whenever there is unfavorable nonrandom X-inactivation.]]> Sat 24 Mar 2018 07:46:52 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:276 30% of mutations seem to cluster on proximal Xp and in the pericentric region. In a systematic screen of brain-expressed genes from this region in 210 families with XLMR, we identified seven different mutations in JARID1C, including one frameshift mutation and two nonsense mutations that introduce premature stop codons, as well as four missense mutations that alter evolutionarily conserved amino acids. In two of these families, expression studies revealed the almost complete absence of the mutated JARID1C transcript, suggesting that the phenotype in these families results from functional loss of the JARID1C protein. JARID1C (Jumonji AT-rich interactive domain 1C), formerly known as "SMCX," is highly similar to the Y-chromosomal gene JARID1D/SMCY, which encodes the H-Y antigen. The JARID1C protein belongs to the highly conserved ARID protein family. It contains several DNA-binding motifs that link it to transcriptional regulation and chromatin remodeling, processes that are defective in various other forms of mental retardation. Our results suggest that JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function.]]> Sat 24 Mar 2018 07:43:03 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:142 Sat 24 Mar 2018 07:42:55 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:330 Sat 24 Mar 2018 07:42:39 AEDT ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:37996 Fri 23 Jul 2021 14:02:51 AEST ]]> https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:41061 HHIP) gene and was previously associated with lung function and HHIP lung expression. We found HHIP expression was significantly different between the sexes (P=6.90x10⁻⁶), but we could not detect sex differential effects of rs7697189 on expression. Conclusions: We identified a novel genotype-by-sex interaction at a putative enhancer region upstream of the HHIP gene. Establishing the mechanism by which HHIP SNPs have different effects on lung function in males and females will be important for our understanding of lung health and diseases in both sexes.]]> Fri 22 Jul 2022 13:18:47 AEST ]]>