Genomes and Genes
Experts and Doctors on phenotype in Brisbane, Queensland, Australia
Locale: Brisbane, Queensland, Australia
Publications144 found, 100 shown here
- Prasadam I, Crawford R, Xiao Y. Aggravation of ADAMTS and matrix metalloproteinase production and role of ERK1/2 pathway in the interaction of osteoarthritic subchondral bone osteoblasts and articular cartilage chondrocytes -- possible pathogenic role in osteoarthritis. J Rheumatol. 2012;39:621-34 pubmed publisher..We have demonstrated for the first time that this altered crosstalk was mediated by the phosphorylation of MAPK-ERK1/2 signaling pathway. ..
- Sriram K, Larsen J, Savarimuthu Francis S, Wright C, Clarke B, Duhig E, et al. Array-comparative genomic hybridization reveals loss of SOCS6 is associated with poor prognosis in primary lung squamous cell carcinoma. PLoS ONE. 2012;7:e30398 pubmed publisher..43 months, p?=?0.023) and test set (27 vs. 43 months, p?=?0.010). Reduced copy number and mRNA expression of SOCS6 are associated with disease recurrence in primary lung SCC and may be useful prognostic biomarkers. ..
- Kidd T, Ramsay K, Hu H, Marks G, Wainwright C, Bye P, et al. Shared Pseudomonas aeruginosa genotypes are common in Australian cystic fibrosis centres. Eur Respir J. 2013;41:1091-100 pubmed publisher..At least one of the predominant and widespread genotypes is associated with increased healthcare utilisation. Longitudinal studies are now needed to determine the infection control implications of these findings. ..
- Mackey S, Kan K, Chaarani B, Alia Klein N, Batalla A, Brooks S, et al. Genetic imaging consortium for addiction medicine: From neuroimaging to genes. Prog Brain Res. 2016;224:203-23 pubmed publisher..The studies performed on this data should significantly impact our understanding of the genetic and neurobiological basis of addiction. ..
- Kotsomitis N, Freer T. Inherited dental anomalies and abnormalities. ASDC J Dent Child. 1997;64:405-8 pubmed..Further family studies are necessary to reveal the mode of inheritance of some of these dental anomalies and twin studies comparing monozygous and dizygous twins would enable an estimation of the extent of their inheritance. ..
- Box N, Duffy D, Irving R, Russell A, Chen W, Griffyths L, et al. Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. J Invest Dermatol. 2001;116:224-9 pubmed
- Makobongo M, Riding G, Xu H, Hirunpetcharat C, Keough D, de Jersey J, et al. The purine salvage enzyme hypoxanthine guanine xanthine phosphoribosyl transferase is a major target antigen for cell-mediated immunity to malaria. Proc Natl Acad Sci U S A. 2003;100:2628-33 pubmed..Recombinant HGXPRT from the human malaria parasite, Plasmodium falciparum, activated the T cells in vitro, and immunization of normal mice with recombinant HGXPRT reduced parasite growth rates in all mice after challenge. ..
- Sturm R, Duffy D, Box N, Chen W, Smit D, Brown D, et al. The role of melanocortin-1 receptor polymorphism in skin cancer risk phenotypes. Pigment Cell Res. 2003;16:266-72 pubmed..Such genetic association studies combined with the functional analysis of MC1R variant alleles in melanocytic cells should provide a link in understanding the association between pigmentary phototypes and skin cancer risk. ..
- Kambara T, Simms L, Whitehall V, Spring K, Wynter C, Walsh M, et al. BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum. Gut. 2004;53:1137-44 pubmed..Sporadic MSI-H cancers may originate in SSA and not adenomas, and BRAF mutation and DNA methylation are early events in this "serrated" pathway. ..
- Petsch K, Mylne J, Botella J. Cosuppression of eukaryotic release factor 1-1 in Arabidopsis affects cell elongation and radial cell division. Plant Physiol. 2005;139:115-26 pubmed..This is the first attempt at functional characterization of a release factor in vivo in plants and demonstrates the importance of eRF1-1 function in Arabidopsis. ..
- Nimmo G, Coombs G, Pearson J, O Brien F, Christiansen K, Turnidge J, et al. Methicillin-resistant Staphylococcus aureus in the Australian community: an evolving epidemic. Med J Aust. 2006;184:384-8 pubmed..The hypervirulence determinant PVL is often found in two of the most common CA-MRSA strains. The rapid changes in prevalence emphasise the importance of ongoing surveillance. ..
- Ferreira M, Hottenga J, Warrington N, Medland S, Willemsen G, Lawrence R, et al. Sequence variants in three loci influence monocyte counts and erythrocyte volume. Am J Hum Genet. 2009;85:745-9 pubmed publisher..001, 9.9x10(-5), and 7x10(-5), respectively). The identification of these QTL provides new opportunities for furthering our understanding of the mechanisms regulating hemopoietic cell fate. ..
- Kern P, Cramp R, Franklin C. Physiological responses of ectotherms to daily temperature variation. J Exp Biol. 2015;218:3068-76 pubmed publisher..Species that cannot compensate for increased variability by buffering growth and development will probably be most affected. ..
- Day F, Ruth K, Thompson D, Lunetta K, Pervjakova N, Chasman D, et al. Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet. 2015;47:1294-1303 pubmed publisher..Mendelian randomization analyses supported a causal effect of later ANM on breast cancer risk (∼6% increase in risk per year; P = 3 × 10(-14)), likely mediated by prolonged sex hormone exposure rather than DDR mechanisms. ..
- Hume G, Doecke J, Huang N, Fowler E, Brown I, Simms L, et al. Altered Expression of Angiotensinogen and Mediators of Angiogenesis in Ileal Crohn's Disease. J Gastrointestin Liver Dis. 2016;25:39-48 pubmed publisher..A novel reduction in HIF1Î± expression in non-inflamed ileal mucosa in CD patients was also demonstrated. ..
- Bowes J, Ashcroft J, Dand N, Jalali Najafabadi F, Bellou E, Ho P, et al. Cross-phenotype association mapping of the MHC identifies genetic variants that differentiate psoriatic arthritis from psoriasis. Ann Rheum Dis. 2017;76:1774-1779 pubmed publisher..Correcting for bias has important implications for cross-phenotype genetic studies. ..
- Little M, Holmes G, Walsh P. WT1: what has the last decade told us?. Bioessays. 1999;21:191-202 pubmed..Finally, further research into the role of WT1 in haematopoiesis will improve our understanding of WT1 in leukaemia. ..
- Pennisi D, Bowles J, Nagy A, Muscat G, Koopman P. Mice null for sox18 are viable and display a mild coat defect. Mol Cell Biol. 2000;20:9331-6 pubmed..Due to the similarity of SOX18 to other subgroup F SOX proteins, SOX7 and -17, and the overlap in expression of these genes, functional redundancy amongst these SOX proteins could also account for the mild phenotype of Sox18(-/-) mice. ..
- Scott S, Bendix R, Chen P, Clark R, Dork T, Lavin M. Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. Proc Natl Acad Sci U S A. 2002;99:925-30 pubmed..This approach represents a means of identifying genuine ATM mutations and addressing the significance of missense changes in the ATM gene in a variety of cancers including breast cancer. ..
- Koopman P. Sex determination: a tale of two Sox genes. Trends Genet. 2005;21:367-70 pubmed..It now appears that Sox9 is not alone in this role, and that a closely related gene, Sox8, can partly substitute for Sox9. But is this a clever backup strategy to safeguard male development, or a relic of the past? ..
- Wallace D, Summerville L, Lusby P, Subramaniam V. First phenotypic description of transferrin receptor 2 knockout mouse, and the role of hepcidin. Gut. 2005;54:980-6 pubmed..Our results suggest that TfR2 is required for iron regulated expression of hepcidin and is involved in a pathway related to Hfe and hemojuvelin. ..
- Crane D, Maxwell M, Paton B. PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders. Hum Mutat. 2005;26:167-75 pubmed..This article provides an overview of the currently known PEX1 mutations, and includes, when necessary, revised mutation nomenclature and genotype-phenotype correlations that may be useful for clinical diagnosis. ..
- Rincon J, Xiao Y, Young W, Bartold P. Production of osteopontin by cultured porcine epithelial cell rests of Malassez. J Periodontal Res. 2005;40:417-26 pubmed..Whether this function would be consistent with a role for ERM in tissue formation, inflammation and regeneration remains to be established. ..
- Summers K, West J, Peterson M, Stark D, McGill J, West M. Challenges in the diagnosis of Marfan syndrome. Med J Aust. 2006;184:627-31 pubmed..Failure to make a diagnosis or making an inappropriate diagnosis of MFS has social, lifestyle and medical consequences for the individual as well as the family. ..
- Luciano M, Hine E, Wright M, Duffy D, Macmillan J, Martin N. Effects of SCA1, MJD, and DPRLA triplet repeat polymorphisms on cognitive phenotypes in a normal population of adolescent twins. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:95-100 pubmed..Given the number of statistical tests performed, it is unlikely that trinucleotide repeat variation in the normal range for these genes influences variation in normal cognition. ..
- Ogg C, Patel B. Caloramator australicus sp. nov., a thermophilic, anaerobic bacterium from the Great Artesian Basin of Australia. Int J Syst Evol Microbiol. 2009;59:95-101 pubmed publisher..nov. The type strain is RC3T (=JCM 1508T =KCTC 5601T). ..
- Matigian N, Abrahamsen G, Sutharsan R, Cook A, Vitale A, Nouwens A, et al. Disease-specific, neurosphere-derived cells as models for brain disorders. Dis Model Mech. 2010;3:785-98 pubmed publisher..They do not require genetic reprogramming and they can be obtained from adults with complex genetic diseases. They will be useful for understanding disease aetiology, for diagnostics and for drug discovery. ..
- Burgess S, Marshall D. Are numbers enough? Colonizer phenotype and abundance interact to affect population dynamics. J Anim Ecol. 2011;80:681-7 pubmed publisher..5. Interactions between colonizer phenotype and abundance have important implications for predicting population dynamics beyond those previously provided by numerical abundance or recruit phenotype alone. ..
- Law M, Macgregor S, Hayward N. Melanoma genetics: recent findings take us beyond well-traveled pathways. J Invest Dermatol. 2012;132:1763-74 pubmed publisher..We take this opportunity to summarize these new and exciting findings and integrate them into the current framework of our understanding of melanoma genetics...
- Benyamin B, Pourcain B, Davis O, Davies G, Hansell N, Brion M, et al. Childhood intelligence is heritable, highly polygenic and associated with FNBP1L. Mol Psychiatry. 2014;19:253-8 pubmed publisher..Our study provides molecular support for the heritability and polygenic nature of childhood intelligence. Larger sample sizes will be required to detect individual variants with genome-wide significance. ..
- Kemp J, Morris J, Medina Gomez C, Forgetta V, Warrington N, Youlten S, et al. Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. Nat Genet. 2017;49:1468-1475 pubmed publisher..The results implicate GPC6 as a novel determinant of BMD, and also identify abnormal skeletal phenotypes in knockout mice associated with a further 100 prioritized genes. ..
- Wicking C, Shanley S, Smyth I, Gillies S, Negus K, Graham S, et al. Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am J Hum Genet. 1997;60:21-6 pubmed..The preponderance of truncation mutants in the germ line of NBCCS patients suggests that the developmental defects associated with the disorder are most likely due to haploinsufficiency. ..
- Burgess A, Wigan M, Giles N, DePinto W, Gillespie P, Stevens F, et al. Inhibition of S/G2 phase CDK4 reduces mitotic fidelity. J Biol Chem. 2006;281:9987-95 pubmed..These data provide evidence for a novel function for CDK4-cyclin D3 activity in S and G(2) phase that is critical for G(2)/M progression and the fidelity of mitosis. ..
- Buckley S, Foley P, Innes D, Loh E, Shen Y, Williams S, et al. GABA(A) receptor beta isoform protein expression in human alcoholic brain: interaction with genotype. Neurochem Int. 2006;49:557-67 pubmed..DRD2A and SLC6A4 genotypes were without significant effect. A restricted set of genotypes may influence subunit expression in this group of high-consumption alcoholics. ..
- Leech A, Mattick J. Effect of site-specific mutations in different phosphotransfer domains of the chemosensory protein ChpA on Pseudomonas aeruginosa motility. J Bacteriol. 2006;188:8479-86 pubmed..aeruginosa motility that are not evident from the conventional twitching stab assay. Together, these results suggest that ChpA plays a central role in the complex regulation of type IV pilus-mediated motility in P. aeruginosa. ..
- Pennisi D, Wilkinson L, Kolle G, Sohaskey M, Gillinder K, Piper M, et al. Crim1KST264/KST264 mice display a disruption of the Crim1 gene resulting in perinatal lethality with defects in multiple organ systems. Dev Dyn. 2007;236:502-11 pubmed..The severe and complex phenotype observed in Crim1(KST264/KST264) mice highlights the importance of Crim1 in numerous aspects of organogenesis. ..
- Whiley D, Limnios E, Ray S, Sloots T, Tapsall J. Diversity of penA alterations and subtypes in Neisseria gonorrhoeae strains from Sydney, Australia, that are less susceptible to ceftriaxone. Antimicrob Agents Chemother. 2007;51:3111-6 pubmed..Overall, the results of our study show that N. gonorrhoeae strains exhibiting reduced sensitivity to ceftriaxone are not of a particular subtype and that a number of different mutations in PBP 2 may contribute to this phenomenon. ..
- Kaity A, Ashmore S, Drew R, Dulloo M. Assessment of genetic and epigenetic changes following cryopreservation in papaya. Plant Cell Rep. 2008;27:1529-39 pubmed publisher..52-6.62%) of detected markers. These findings have not been reported previously for papaya, and indicate some genotype dependent variability in DNA modifications occur following cryopreservation which may result in somaclonal variation. ..
- Slack A, Kalambaheti T, Symonds M, Dohnt M, Galloway R, Steigerwalt A, et al. Leptospira wolffii sp. nov., isolated from a human with suspected leptospirosis in Thailand. Int J Syst Evol Microbiol. 2008;58:2305-8 pubmed publisher..nov. is proposed. The type strain is Khorat-H2(T) (=WHO LT1686(T) =KIT Khorat-H2(T)). ..
- Degnan S, Degnan B. The initiation of metamorphosis as an ancient polyphenic trait and its role in metazoan life-cycle evolution. Philos Trans R Soc Lond B Biol Sci. 2010;365:641-51 pubmed publisher..Population divergence and allopatric speciation are likely outcomes of this conserved developmental polyphenic trait. ..
- Hammer G, van Oosterom E, McLean G, Chapman S, Broad I, Harland P, et al. Adapting APSIM to model the physiology and genetics of complex adaptive traits in field crops. J Exp Bot. 2010;61:2185-202 pubmed publisher..The relevance to plant breeding of this capability in complex trait dissection and simulation is discussed. ..
- Whitelaw N, Chong S, Morgan D, Nestor C, Bruxner T, Ashe A, et al. Reduced levels of two modifiers of epigenetic gene silencing, Dnmt3a and Trim28, cause increased phenotypic noise. Genome Biol. 2010;11:R111 pubmed publisher..These findings have broad implications for understanding the mechanisms underlying sporadic and complex disease in humans. ..
- Melino M, Gadd V, Walker G, Skoien R, Barrie H, Jothimani D, et al. Macrophage secretory products induce an inflammatory phenotype in hepatocytes. World J Gastroenterol. 2012;18:1732-44 pubmed publisher..Secreted macrophage products alter the phenotype and function of hepatocytes, with increased expression of inflammatory mediators, suggesting that hepatocytes actively participate in liver injury. ..
- Edwards S, Beesley J, French J, Dunning A. Beyond GWASs: illuminating the dark road from association to function. Am J Hum Genet. 2013;93:779-97 pubmed publisher..These approaches have already accelerated progress from genetic studies to biological knowledge and might ultimately guide the development of prognostic, preventive, and therapeutic measures. ..
- Fajac I, Wainwright C. New treatments targeting the basic defects in cystic fibrosis. Presse Med. 2017;46:e165-e175 pubmed publisher..All these strategies are needed to develop disease-modifying therapies for all patients with CF. ..
- Yang J, Zeng J, Goddard M, Wray N, Visscher P. Concepts, estimation and interpretation of SNP-based heritability. Nat Genet. 2017;49:1304-1310 pubmed publisher..We discuss issues that could influence the accuracy of , definitions, assumptions and interpretations of the models, and pitfalls of misusing the methods and misinterpreting the models and results. ..
- Jennings M, Virji M, Evans D, Foster V, Srikhanta Y, Steeghs L, et al. Identification of a novel gene involved in pilin glycosylation in Neisseria meningitidis. Mol Microbiol. 1998;29:975-84 pubmed
- Sturm R. Skin colour and skin cancer - MC1R, the genetic link. Melanoma Res. 2002;12:405-16 pubmed
- Nimmo G, Fong J, Paterson D, McLaws M. Changing epidemiology of meticillin-resistant S. aureus in Queensland, Australia, 2000-2006: use of passive surveillance of susceptibility phenotypes. J Hosp Infect. 2008;70:305-13 pubmed publisher..Surveillance of phenotypes derived from routine susceptibility data is a useful tool for tracking changes in the epidemiology of MRSA over large geographical regions. ..
- Kirk K, Bailey J, Dunne M, Martin N. Measurement models for sexual orientation in a community twin sample. Behav Genet. 2000;30:345-56 pubmed..2000). Estimates of the heritability of homosexuality in this sample ranged between 50 and 60% in females but were significantly lower (heritability of approximately 30%) in males. ..
- Ye P, West M. Cosegregation analysis of natriuretic peptide genes and blood pressure in the spontaneously hypertensive rat. Clin Exp Pharmacol Physiol. 2003;30:930-6 pubmed..It provides a strong foundation for further detailed genetic studies in congenic strains, which may help to narrow down the location of this gene and lead to positional cloning. ..
- Bousquet J, Gern J, Martinez F, Anto J, Johnson C, Holt P, et al. Birth cohorts in asthma and allergic diseases: report of a NIAID/NHLBI/MeDALL joint workshop. J Allergy Clin Immunol. 2014;133:1535-46 pubmed publisher..eu), where the reader will find tables describing the characteristics of the birth cohorts included in this report, the type of data collected at differing ages, and a selected bibliography provided by the participating birth cohorts. ..
- Voisey J, Swagell C, Hughes I, Morris C, van Daal A, Noble E, et al. The DRD2 gene 957C>T polymorphism is associated with posttraumatic stress disorder in war veterans. Depress Anxiety. 2009;26:28-33 pubmed publisher..PTSD individuals were more likely to carry the C allele compared to the controls (P=0.021). Our findings suggest that the 957C>T polymorphism in the DRD2 gene is one of the genetic factors for susceptibility to PTSD. ..
- Hosking B, Francois M, Wilhelm D, Orsenigo F, Caprini A, Svingen T, et al. Sox7 and Sox17 are strain-specific modifiers of the lymphangiogenic defects caused by Sox18 dysfunction in mice. Development. 2009;136:2385-91 pubmed publisher..Our studies identify Sox7 and Sox17 as modifiers of the Sox18 mutant phenotype, and reveal their mechanism of action as a novel mode of strain-specific compensatory upregulation. ..
- Mason S, Cozzi S, Pierce C, Pavey S, Parsons P, Boyle G. The induction of senescence-like growth arrest by protein kinase C-activating diterpene esters in solid tumor cells. Invest New Drugs. 2010;28:575-86 pubmed publisher..PKC-activating diterpene esters may therefore have therapeutic potential in a subset of breast cancer, colon cancer and melanoma tumors. ..
- McManus D. Current status of the genetics and molecular taxonomy of Echinococcus species. Parasitology. 2013;140:1617-23 pubmed publisher..A revised taxonomy for species in the Echinococcus genus has been proposed that is generally accepted, and is based on the new molecular data and the biological and epidemiological characteristics of host-adapted species and strains. ..
- Lavin M, Gueven N, Bottle S, Gatti R. Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia. Br Med Bull. 2007;81-82:129-47 pubmed..We describe the natural course of disease, some supportive therapeutic approaches already in use and those with potential based on our knowledge of molecular and cellular characteristics of this disorder...
- Simpson J, Yang I, Upham J, Reynolds P, Hodge S, James A, et al. Periostin levels and eosinophilic inflammation in poorly-controlled asthma. BMC Pulm Med. 2016;16:67 pubmed publisher..In poorly-controlled asthma, sputum and serum periostin levels are significantly related to sputum eosinophil proportions while their ability to predict the presence of eosinophilic asthma is modest. ..
- Bønnelykke K, Matheson M, Pers T, Granell R, Strachan D, Alves A, et al. Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. Nat Genet. 2013;45:902-906 pubmed publisher..Understanding the molecular mechanisms underlying these associations may provide new insights into the etiology of allergic disease. ..
- Rowland J, Lichanska A, Kerr L, White M, d Aniello E, Maher S, et al. In vivo analysis of growth hormone receptor signaling domains and their associated transcripts. Mol Cell Biol. 2005;25:66-77 pubmed..These mice represent the first step in delineating the domains of the GHR regulating body growth and composition and the transcripts associated with these domains. ..
- Medland S, Neale M. An integrated phenomic approach to multivariate allelic association. Eur J Hum Genet. 2010;18:233-9 pubmed publisher..Perl scripts that takes ped and dat files as input and produces Mx scripts and data for running the CMV approach can be downloaded from www.vipbg.vcu.edu/~sarahme/WriteMx. ..
- Mosing M, Gordon S, Medland S, Statham D, Nelson E, Heath A, et al. Genetic and environmental influences on the co-morbidity between depression, panic disorder, agoraphobia, and social phobia: a twin study. Depress Anxiety. 2009;26:1004-11 pubmed publisher..The high genetic correlation between PD and AG and the increased odds ratio for PD and AG in siblings of those with AG without PD suggests a common genetic etiology for PD and AG. ..
- Painter J, Nyholt D, Morris A, Zhao Z, Henders A, Lambert A, et al. High-density fine-mapping of a chromosome 10q26 linkage peak suggests association between endometriosis and variants close to CYP2C19. Fertil Steril. 2011;95:2236-40 pubmed publisher..The role of the CYP2C19 gene in conferring risk for endometriosis warrants further investigation. ..
- Brito L, Kijas J, Ventura R, Sargolzaei M, Porto Neto L, Cánovas A, et al. Genetic diversity and signatures of selection in various goat breeds revealed by genome-wide SNP markers. BMC Genomics. 2017;18:229 pubmed publisher..These results can now provide a foundation to formulate biological hypotheses related to selection processes in goats. ..
- Teuscher F, Lowther J, Skinner Adams T, Spielmann T, Dixon M, Stack C, et al. The M18 aspartyl aminopeptidase of the human malaria parasite Plasmodium falciparum. J Biol Chem. 2007;282:30817-26 pubmed..However, we were able to draw valuable observations concerning the structure-activity relationship of these inhibitors that can be employed in future inhibitor optimization studies. ..
- Wei L, Shan Z, Flower R, Wang Z, Wen J, Luo G, et al. The distribution of MNS hybrid glycophorins with Mur antigen expression in Chinese donors including identification of a novel GYP.Bun allele. Vox Sang. 2016;111:308-314 pubmed publisher..Mur RBCs as the reagent cells to avoid neglecting weak antibodies. A separate GYP.Bun lineage found in the southern China provides evidence for further complexity in the MNS system. ..
- Smid J, Rowland J, Young W, Daley T, Coschigano K, Kopchick J, et al. Mouse cellular cementum is highly dependent on growth hormone status. J Dent Res. 2004;83:35-9 pubmed..Acellular cementum was generally unaffected. This study reveals cellular cementum to be a highly responsive GH target tissue, which may have therapeutic applications in assisting regeneration of the periodontium. ..
- Mishra A, Yazar S, Hewitt A, Mountain J, Ang W, Pennell C, et al. Genetic variants near PDGFRA are associated with corneal curvature in Australians. Invest Ophthalmol Vis Sci. 2012;53:7131-6 pubmed publisher..Results of initial genomewide association studies (GWAS) for CC in Australians were also reported...
- Martin P, Watson A, McCaul T, Mattick J. Characterization of a five-gene cluster required for the biogenesis of type 4 fimbriae in Pseudomonas aeruginosa. Mol Microbiol. 1995;16:497-508 pubmed..Deletion mutants of pilM and pilQ displayed a dominant negative phenotype when transformed into wild-type cells, suggesting that these genes encode proteins involved in multimeric structures. ..
- Roscioli T, Taylor P, Bohlken A, Donald J, Masel J, Glass I, et al. The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype. Am J Med Genet A. 2004;124A:136-41 pubmed..Further investigations are in progress to identify the gene within the SHFM3 critical region responsible for ectrodactyly. ..
- Kinna G, Kolle G, Carter A, Key B, Lieschke G, Perkins A, et al. Knockdown of zebrafish crim1 results in a bent tail phenotype with defects in somite and vascular development. Mech Dev. 2006;123:277-87 pubmed..Hence, the primary role of zebrafish crim1 is likely to be the regulation of somitic and vascular development. ..
- King G, Chanson A, McCallum E, Ohme Takagi M, Byriel K, Hill J, et al. The Arabidopsis B3 domain protein VERNALIZATION1 (VRN1) is involved in processes essential for development, with structural and mutational studies revealing its DNA-binding surface. J Biol Chem. 2013;288:3198-207 pubmed publisher..The triple mutant R249E/R289E/R296E was almost completely incapable of DNA binding in vitro. Thus, we have revealed that although VRN1 is sequence-nonspecific in DNA binding, it has a defined DNA-binding surface. ..
- Relan V, Morrison L, Parsonson K, Clarke B, Duhig E, Windsor M, et al. Phenotypes and karyotypes of human malignant mesothelioma cell lines. PLoS ONE. 2013;8:e58132 pubmed publisher..These characteristics support their potential as in vitro model systems for studying cellular, molecular and genetic aspects of mesothelioma. ..
- Sköld H, Aspengren S, Cheney K, Wallin M. Fish Chromatophores--From Molecular Motors to Animal Behavior. Int Rev Cell Mol Biol. 2016;321:171-219 pubmed publisher..In this cross-disciplinary review, we have highlighted emerging trends in pigment cell research and identified unsolved problems for future research. ..
- Hjorth J, Connor R, Key B. Role of hlx1 in zebrafish brain morphogenesis. Int J Dev Biol. 2002;46:583-96 pubmed..Our results indicate multiple roles for hlx1 during zebrafish brain morphogenesis. ..
- Munns C, Glass I, Flanagan S, Hayes M, Williams B, Berry M, et al. Familial growth and skeletal features associated with SHOX haploinsufficiency. J Pediatr Endocrinol Metab. 2003;16:987-96 pubmed..Females were more severely affected than males. We conclude that SHOX is a major growth gene and that mutations are associated with a broad range of phenotype. ..
- Smit D, Gardiner B, Sturm R. Osteonectin downregulates E-cadherin, induces osteopontin and focal adhesion kinase activity stimulating an invasive melanoma phenotype. Int J Cancer. 2007;121:2653-60 pubmed..These results indicate a central role for Osteonectin in the regulation of gene expression changes driving the progression of melanoma toward metastasis. ..
- Lee I, Yang L, Sebetso G, Allen R, Doan T, Blundell R, et al. Characterization of the complete uric acid degradation pathway in the fungal pathogen Cryptococcus neoformans. PLoS ONE. 2013;8:e64292 pubmed publisher..While Uro1, Uro2, Uro3, Dal1 and Dal2,3,3 were demonstrated to be dispensable for virulence, the significance of using a modified animal model system of cryptococcosis for improved mimicking of human pathogenicity is discussed...
- Kijas J. Detecting regions of homozygosity to map the cause of recessively inherited disease. Methods Mol Biol. 2013;1019:331-45 pubmed publisher..An example dataset is used to aid in data interpretation. ..
- Ferreira M, Matheson M, Tang C, Granell R, Ang W, Hui J, et al. Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. J Allergy Clin Immunol. 2014;133:1564-71 pubmed publisher..23; P = 2 Ã— 10(-6)). By focusing on the combined phenotype of asthma with hay fever, variants associated with the risk of allergic disease can be identified with greater efficiency. ..
- Su Z, Dobson C. Genetic and immunological adaptation of Heligmosomoides polygyrus in mice. Int J Parasitol. 1997;27:653-63 pubmed..These results suggest that adaptation of parasites to immunity of the host is associated with reduction of their immunogenicity and is specific to the immune status and genotype of the host to which the parasites have become adapted...
- Wallace D, Pedersen P, Dixon J, Stephenson P, Searle J, Powell L, et al. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood. 2002;100:692-4 pubmed..We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload. ..
- Maxwell M, Bjorkman J, Nguyen T, Sharp P, Finnie J, Paterson C, et al. Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype. Mol Cell Biol. 2003;23:5947-57 pubmed..The brains of these animals showed disordered lamination in the cerebral cortex, consistent with a neuronal migration defect. Thus, Pex13(-/-) mice reproduce many of the features of Zellweger syndrome and PEX13 deficiency in humans. ..
- Wray N, James M, Mah S, Nelson M, Andrews G, Sullivan P, et al. Anxiety and comorbid measures associated with PLXNA2. Arch Gen Psychiatry. 2007;64:318-26 pubmed..PLXNA2 is a candidate for causal variation in anxiety and in other psychiatric disorders through its comorbidity with anxiety. ..
- Hamilton N, Pantelic R, Hanson K, Teasdale R. Fast automated cell phenotype image classification. BMC Bioinformatics. 2007;8:110 pubmed