Genomes and Genes
Experts and Doctors on phenotype in Nottingham, England, United Kingdom
Locale: Nottingham, England, United Kingdom
- Glover M, Ware J, Henry A, Wolley M, Walsh R, Wain L, et al. Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome). Clin Sci (Lond). 2014;126:721-6 pubmed publisher..As a third of our non-WNK FHHt families do not have plausible CUL3 or KLHL3 variants, there are probably additional, as yet undiscovered, regulators of the thiazide-sensitive pathways. ..
- Hull S, Owen N, Islam F, Tracey White D, Plagnol V, Holder G, et al. Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. Invest Ophthalmol Vis Sci. 2016;57:1053-62 pubmed publisher..This study highlights the phenotype of nonsyndromic RP due to mutations in IFT140 with milder retinal dystrophy than that associated with the syndromic disease. ..
- Abdel Fatah T, Powe D, Hodi Z, Reis Filho J, Lee A, Ellis I. Morphologic and molecular evolutionary pathways of low nuclear grade invasive breast cancers and their putative precursor lesions: further evidence to support the concept of low nuclear grade breast neoplasia family. Am J Surg Pathol. 2008;32:513-23 pubmed publisher..Our findings support the concept that progression of LNGBC to HNGBC (basal-like or HER2+) phenotype is an unlikely biologic phenomenon. ..
- Seedhouse C, Grundy M, White P, Li Y, Fisher J, Yakunina D, et al. Sequential influences of leukemia-specific and genetic factors on p-glycoprotein expression in blasts from 817 patients entered into the National Cancer Research Network acute myeloid leukemia 14 and 15 trials. Clin Cancer Res. 2007;13:7059-66 pubmed..Moreover, leukemia-specific factors, such as low WBC count and poor risk cytogenetics, have a much greater effect than genetic polymorphisms on Pgp expression in AML blasts. ..
- Mitchell C, Rutland C, Walker M, Nasir M, Foss A, Stewart C, et al. Unique vascular phenotypes following over-expression of individual VEGFA isoforms from the developing lens. Angiogenesis. 2006;9:209-24 pubmed..The results of this study indicate that individual isoforms of VEGFA induce distinct vascular phenotypes in the eye during embryonic development and that their relative doses provide instructive cues for vascular patterning. ..
- Suri M. The phenotypic spectrum of ARX mutations. Dev Med Child Neurol. 2005;47:133-7 pubmed..Familiarity with the phenotypic spectrum of ARX mutations is helpful in determining when to request ARX mutation analysis. ..
- Gharib S, Loth D, Soler Artigas M, Birkland T, Wilk J, Wain L, et al. Integrative pathway genomics of lung function and airflow obstruction. Hum Mol Genet. 2015;24:6836-48 pubmed publisher..By integrating pathway analysis with population-based genomics, we unraveled biologic processes underlying pulmonary function traits and identified a candidate gene for obstructive lung disease. ..
- Seedhouse C, Faulkner R, Ashraf N, Das Gupta E, Russell N. Polymorphisms in genes involved in homologous recombination repair interact to increase the risk of developing acute myeloid leukemia. Clin Cancer Res. 2004;10:2675-80 pubmed..26; 95% CI, 1.83-127.27). These results strongly suggest that DNA double-strand breaks and their repair are important in the pathogenesis of both de novo and t-AML. ..
- Murchie E, Lawson T. Chlorophyll fluorescence analysis: a guide to good practice and understanding some new applications. J Exp Bot. 2013;64:3983-98 pubmed publisher..We end the review by briefly discussing the emerging area of monitoring fluorescence, chlorophyll fluorescence imaging, field phenotyping, and remote sensing of crops for yield and biomass enhancement. ..
- Shahrizaila N, Lowe J, Wills A. Familial myopathy with tubular aggregates associated with abnormal pupils. Neurology. 2004;63:1111-3 pubmed..Four family members from two generations had myopathy and pupillary abnormalities. The myopathologic findings consisted of tubular aggregates in many fibers but predominantly type I fibers...
- Rajamohan D, Matsa E, Kalra S, Crutchley J, Patel A, George V, et al. Current status of drug screening and disease modelling in human pluripotent stem cells. Bioessays. 2013;35:281-98 pubmed publisher..Such successes will provide an incentive to overcome bottlenecks in hPSC technology such as improving cell maturity and industrial scalability whilst reducing cost...
- Brown R, Hudson N, Wilson G, Rehman S, Jabbari S, Hu K, et al. Hepatitis C virus envelope glycoprotein fitness defines virus population composition following transmission to a new host. J Virol. 2012;86:11956-66 pubmed publisher..Overall, these data provide important insights into the dynamics and selection of HCV populations during transmission...
- Dalleywater W, Chau D, Ghaemmaghami A. Tissue transglutaminase treatment leads to concentration-dependent changes in dendritic cell phenotype--implications for the role of transglutaminase in coeliac disease. BMC Immunol. 2012;13:20 pubmed publisher..These data provide support for an additional role for transglutaminase in coeliac disease and demonstrate the potential of in vitro modelling of coeliac disease pathogenesis. ..
- Pallis M, Turzanski J, Higashi Y, Russell N. P-glycoprotein in acute myeloid leukaemia: therapeutic implications of its association with both a multidrug-resistant and an apoptosis-resistant phenotype. Leuk Lymphoma. 2002;43:1221-8 pubmed..For a chemosensitising agent to be successful, it may be more important for it to enhance apoptosis than to increase drug uptake. ..
- Garcia Nieto S, Johal R, Shakesheff K, Emara M, Royer P, Chau D, et al. Laminin and fibronectin treatment leads to generation of dendritic cells with superior endocytic capacity. PLoS ONE. 2010;5:e10123 pubmed publisher..Within the context of antigen specific DC induced T cell proliferation, inclusion of ECM proteins could lead to development of more sensitive assays. ..
- Seedhouse C, Grundy M, Shang S, Ronan J, Pimblett H, Russell N, et al. Impaired S-phase arrest in acute myeloid leukemia cells with a FLT3 internal tandem duplication treated with clofarabine. Clin Cancer Res. 2009;15:7291-8 pubmed publisher..Efficient DNA repair may render the cells resistant to a short pulse of the drug, but a failure of cell cycle checkpoint(s) in S phase renders the cells sensitive to prolonged exposure. ..
- Walsh R, Rutland C, Thomas R, Loughna S. Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations. Cardiology. 2010;115:49-60 pubmed publisher..This study suggests that mutation location in the MYH7 gene and changes in amino acid composition can have a negative impact on the disease outcome in individuals with cardiomyopathy. ..
- Liti G, Haricharan S, Cubillos F, Tierney A, Sharp S, Bertuch A, et al. Segregating YKU80 and TLC1 alleles underlying natural variation in telomere properties in wild yeast. PLoS Genet. 2009;5:e1000659 pubmed publisher..Furthermore, we propose that sequence divergence within the Ku heterodimer generates negative epistasis within one of the allelic combinations (American-YKU70 and European-YKU80) resulting in very short telomeres. ..
- Oldfield N, Matar S, Bidmos F, Alamro M, Neal K, Turner D, et al. Prevalence and phase variable expression status of two autotransporters, NalP and MspA, in carriage and disease isolates of Neisseria meningitidis. PLoS ONE. 2013;8:e69746 pubmed publisher..Our data indicates a differential requirement for NalP and MspA expression in MenB and MenY strains and is a step towards understanding the contributions of phase-variable loci to meningococcal biology. ..
- Ware J, Wain L, Channavajjhala S, Jackson V, Edwards E, Lu R, et al. Phenotypic and pharmacogenetic evaluation of patients with thiazide-induced hyponatremia. J Clin Invest. 2017;127:3367-3374 pubmed publisher..We propose one mechanism underlying TIH development in a subgroup of patients in which SLCO2A1 regulation is altered. ..
- Swan C, Duroudier N, Campbell E, Zaitoun A, Hastings M, Dukes G, et al. Identifying and testing candidate genetic polymorphisms in the irritable bowel syndrome (IBS): association with TNFSF15 and TNF?. Gut. 2013;62:985-94 pubmed publisher..30 versus 0.19 for HV (p=0.04). IBS-D and PI-IBS patients are associated with TNFSF15 and TNF? genetic polymorphisms which also predispose to Crohn's disease suggesting possible common underlying pathogenesis. ..
- Zhang H, Rakha E, Ball G, Spiteri I, Aleskandarany M, Paish E, et al. The proteins FABP7 and OATP2 are associated with the basal phenotype and patient outcome in human breast cancer. Breast Cancer Res Treat. 2010;121:41-51 pubmed publisher..We have identified a novel subgroup of basal tumours showing FABP7 expression that have significantly better clinical outcome. Further studies analysing the role of FABP7 are therefore warranted. ..
- Elsheikh S, Green A, Rakha E, Powe D, Ahmed R, Collins H, et al. Global histone modifications in breast cancer correlate with tumor phenotypes, prognostic factors, and patient outcome. Cancer Res. 2009;69:3802-9 pubmed publisher..This study identifies the presence of variations in global levels of histone marks in different grades, morphologic types, and phenotype classes of invasive breast cancer and shows that these differences have clinical significance. ..
- Nelson M, Band L, Dyson R, Lessinnes T, Wells D, Yang C, et al. A biomechanical model of anther opening reveals the roles of dehydration and secondary thickening. New Phytol. 2012;196:1030-7 pubmed publisher..The research hypothesizes and demonstrates a biomechanical mechanism for anther opening, which appears to be conserved in many other biological situations where tissue movement occurs. ..
- Chappell S, Hadzic N, Stockley R, Guetta Baranes T, Morgan K, Kalsheker N. A polymorphism of the alpha1-antitrypsin gene represents a risk factor for liver disease. Hepatology. 2008;47:127-32 pubmed..This is the first description of a genetic modifier of liver disease in homozygous ZZ children and has potential implications for screening and possible therapies that are currently being developed. ..
- Hill M, Deam S, Gordon B, Dolan G. Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype. Haemophilia. 2005;11:133-41 pubmed..The genotype-phenotype correlations of the FVIII mutations detected will be discussed. ..