A5075427129- Genetic factors in colorectal cancer
- Connective tissue disorders research
- Fungal and yeast genetics research
- Genomics and Rare Diseases
- Bone Metabolism and Diseases
- Cancer Genomics and Diagnostics
- CRISPR and Genetic Engineering
- Renal and related cancers
- Microtubule and mitosis dynamics
- Wnt/β-catenin signaling in development and cancer
- Antifungal resistance and susceptibility
- Corneal surgery and disorders
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Genetics and Neurodevelopmental Disorders
- NF-κB Signaling Pathways
- PI3K/AKT/mTOR signaling in cancer
- Viral Infectious Diseases and Gene Expression in Insects
- Hedgehog Signaling Pathway Studies
- Genomic variations and chromosomal abnormalities
- Cancer-related gene regulation
- Chromosomal and Genetic Variations
- Peptidase Inhibition and Analysis
- Axon Guidance and Neuronal Signaling
- Bone and Dental Protein Studies
- Gout, Hyperuricemia, Uric Acid
University of Otago
2015-2025
Dunedin Public Hospital
1997-2013
St Thomas' Hospital
2003
Inserm
1998
National Institute of Neurological Disorders and Stroke
1997
National Institutes of Health
1997
National Human Genome Research Institute
1997
National Cancer Institute
1997
Columbia University
1997
Icahn School of Medicine at Mount Sinai
1997
Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density lipoprotein (LDL)–derived cholesterol. By positional cloning methods, gene ( NPC1) with insertion, deletion, and missense mutations has been identified in NP-C patients. Transfection fibroblasts wild-type NPC1 cDNA resulted correction their excessive storage LDL cholesterol, thereby defining the critical role regulation intracellular cholesterol trafficking. The...
Juvenile polyps are present in a number of Mendelian disorders, sometimes association only with gastrointestinal cancer [juvenile polyposis syndrome (JPS)] and as part known syndromes (Cowden, Gorlin Banayan-Zonana) developmental abnormalities, dysmorphic features or extra-intestinal tumours. Recently, gene for JPS was mapped to 18q21.1 the candidate DPC4 (SMAD4) shown carry frameshift mutations some families. We have analysed eight families linkage DPC4. Overall, there no evidence DPC4;...
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome humans (CFZS; OMIM 254940) reducing but not eliminating function. We characterize MYMK-CFZS as congenital myopathy with marked...
<h3>BACKGROUND</h3> Juvenile polyposis syndrome (JPS) is characterised by gastrointestinal (GI) hamartomatous and an increased risk of GI malignancy. polyps also occur in the Cowden (CS), Bannayan-Ruvalcaba-Riley (BRRS) Gorlin (GS) syndromes. Diagnosing JPS can be problematic because it relies on exclusion CS, BRRS, GS. Germline mutations <i>PTCH</i>, <i>PTEN</i>and <i>DPC4 </i>(<i>SMAD4)</i>genes cause GS, CS/BRRS, JPS, respectively. <h3>AIMS</h3> To examine contribution...
Netrin-1 is a secreted protein that was first identified 20 years ago as an axon guidance molecule regulates midline crossing in the CNS. It plays critical roles various tissues throughout development and implicated tumorigenesis inflammation adulthood. Despite extensive studies, no inherited human disease has been directly associated with mutations NTN1, gene coding for netrin-1. Here, we have 3 exon 7 of NTN1 2 unrelated families 1 sporadic case isolated congenital mirror movements (CMM),...
Wilms tumour is a childhood that arises as consequence of somatic and rare germline mutations, the characterisation which has refined our understanding nephrogenesis carcinogenesis. Here we report loss function mutations in TRIM28 predispose children to tumour. Loss this transcriptional co-repressor, role nephrogenesis, not previously been associated with cancer. Inactivation TRIM28, either or somatic, occurred through inactivating heterozygosity epigenetic silencing. TRIM28-mutated tumours...
The Rakeiora program was designed for high impact precision health research in Aotearoa New Zealand. It required a genomics platform to facilitate linkage of whole genome DNA sequencing data, healthcare records, and mātauranga whakapapa (genealogical knowledge) powerful, secure, transparently governed computational environment. A team Māori non-Māori with diverse professional cultural expertise co-developed Rakeiora; embedding te ao (Māori world) crucial, including principles derived from:...
A locus for Peutz-Jeghers syndrome (PJS) was recently mapped to chromosome 19p13.3. Each of 12 families studied compatible with linkage the marker D19S886. We have analysed 20 further and found that majority these are consistent a PJS gene on Three were, however, unlinked 19p13.3 none available polyps from showed allele loss at There were no obvious clinicopathological or ethnic differences between linked families. appears, therefore, be major possibility exists minor (or loci) elsewhere.
Corneal dystrophies are a genetically heterogeneous group of disorders. We previously described family with an autosomal dominant epithelial recurrent erosion dystrophy (ERED). aimed to identify the underlying genetic cause ERED in this and 3 additional families. sought characterize potential function candidate genes using human zebrafish cornea.Case series study 4 white families similar ERED. An experimental was performed on tissue examine putative biological genes.Four families, including...
The mammalian neocortex has undergone remarkable changes through evolution. A consequence of such rapid evolutionary events could be a trade-off that rendered the brain susceptible to certain neurodevelopmental and neuropsychiatric conditions. We analyzed exomes 65 patients with structural malformation periventricular nodular heterotopia (PH). De novo coding variants were observed in excess genes defining transcriptomic signature basal radial glia, cell type linked In addition, we located...
A multiply auxotrophic strain, hOG45, was derived from Candida albicans ATCC 10261. Prototrophic revertants of this multiple auxotroph were selected after mutagenesis. These prototrophic distinguishable the original prototroph, 10261, because their mitotic instability. They gave rise to derivatives which displayed one or more requirements characteristic hOG45. Two requirements, those for adenine and methionine, frequently reappeared together in revertants. This apparent linkage ade met...
Abstract Spondyloepiphyseal dysplasia (SED), Omani type (OMIM 608637) is a recessively inherited skeletal previously described in two distantly related families from the Republic of Oman. The phenotype consists short stature, severe kyphoscoliosis, arthritic joints (elbows, wrists, knees), secondary large joint dislocations, rhizomelia, fusion carpal bones and mild brachydactyly. Affected individuals were homozygous for missense mutation, R304Q CHST3 that encodes enzyme chondroitin 6‐ O...
Sears C, Markie D, Olds R, Fitches A. Evidence of associations between bipolar disorder and the brain‐derived neurotropic factor ( BDNF ) gene. Bipolar Disord 2011: 13: 630–637. © 2011 The Authors. Journal compilation John Wiley & Sons A/S. Objective: Brain‐derived neurotrophic (BDNF) has important roles in neural cell growth differentiation. Despite multiple lines evidence suggesting as a possible contributor to pathogenesis (BD), results genetic association studies have been mixed. We...
BACKGROUND AND AIMS Juvenile polyps occur in several Mendelian disorders, whether association with gastrointestinal cancer alone (juvenile polyposis syndrome, JPS) or as part of known syndromes (Cowden, Gorlin, and Bannayan-Zonana) developmental abnormalities, dysmorphic features, extraintestinal tumours. Recently, some JPS families were shown to harbour germline mutations the SMAD4 ( DPC4 ) gene, providing further evidence for importance TGFβ signalling pathway colorectal cancer. There...