Genomes and Genes
Experts and Doctors on phenotype in Southampton, England, United Kingdom
Locale: Southampton, England, United Kingdom
- Agusti A, Bel E, Thomas M, Vogelmeier C, Brusselle G, Holgate S, et al. Treatable traits: toward precision medicine of chronic airway diseases. Eur Respir J. 2016;47:410-9 pubmed publisher..In this Perspective, we propose a precision medicine strategy for chronic airway diseases in general, and asthma and COPD in particular. ..
- Lachlan K, Lucassen A, Bunyan D, Temple I. Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. J Med Genet. 2007;44:579-85 pubmed..This has important counselling implications, such as advice about cancer surveillance, for children diagnosed with BRRS. ..
- Mercer C, Lachlan K, Karcanias A, Affara N, Huang S, Jacobs P, et al. Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility. Eur J Med Genet. 2013;56:1-6 pubmed publisher..In conjunction with patient data from the literature, our study suggests that loss of Xq26-Xq28 has the most significant effect on ovarian function. ..
- Watkins A, Lucas E, Wilkins A, Cagampang F, Fleming T. Maternal periconceptional and gestational low protein diet affects mouse offspring growth, cardiovascular and adipose phenotype at 1 year of age. PLoS ONE. 2011;6:e28745 pubmed publisher..These adverse outcomes further exemplify the criticality of dietary behaviour around the time of conception on long-term offspring health. ..
- Torrens C, Ethirajan P, Bruce K, Cagampang F, Siow R, Hanson M, et al. Interaction between maternal and offspring diet to impair vascular function and oxidative balance in high fat fed male mice. PLoS ONE. 2012;7:e50671 pubmed publisher..Further, this disadvantageous vascular phenotype is exacerbated by age to influence the risk of developing obesity, raised blood pressure and endothelial dysfunction in adult life. ..
- Dennis N, Coppin B, Turner C, Skuse D, Jacobs P. A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes. Ann Hum Genet. 2000;64:277-93 pubmed..2. Thus some protection from oedema may be provided by the presence of two copies of Xq13.2. ..
- Eckert J, Porter R, Watkins A, Burt E, Brooks S, Leese H, et al. Metabolic induction and early responses of mouse blastocyst developmental programming following maternal low protein diet affecting life-long health. PLoS ONE. 2012;7:e52791 pubmed publisher..Moreover, this induction step associates with changes in extra-embryonic trophectoderm behaviour occurring as early compensatory responses leading to later nutrient recovery. ..
- Gemenetzi M, Lotery A. Phenotype/genotype correlation in a case series of Stargardt's patients identifies novel mutations in the ABCA4 gene. Eye (Lond). 2013;27:1316-9 pubmed publisher..To investigate phenotypic variability in terms of best-corrected visual acuity (BCVA) in patients with Stargardt disease (STGD) and confirmed ABCA4 mutations...
- Ashraf T, Collinson M, Fairhurst J, Wang R, Wilson L, Foulds N. Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition. Am J Med Genet A. 2015;167A:3153-60 pubmed publisher..The deletion in the second patient spans the previously reported critical region and indicates that the cognitive impairment may not always be as severe as previous reports suggest. ..
- Jäkel L, Van Nostrand W, Nicoll J, Werring D, Verbeek M. Animal models of cerebral amyloid angiopathy. Clin Sci (Lond). 2017;131:2469-2488 pubmed publisher..In this manuscript, we provide a comprehensive review of existing animal models for CAA, which can aid in understanding the pathophysiology of CAA and explore the response to potential therapies...
- Staples K, Hinks T, Ward J, Gunn V, Smith C, DjukanoviÄ‡ R. Phenotypic characterization of lung macrophages in asthmatic patients: overexpression of CCL17. J Allergy Clin Immunol. 2012;130:1404-12.e7 pubmed publisher..CCL17 expression is corticosteroid resistant but suppressed by PI3K enzyme inhibitors. ..
- Tod J, Hanley C, Morgan M, Rucka M, Mellows T, Lopez M, et al. Pro-migratory and TGF-β-activating functions of αvβ6 integrin in pancreatic cancer are differentially regulated via an Eps8-dependent GTPase switch. J Pathol. 2017;243:37-50 pubmed publisher..2017 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland. ..
- Tapper W, Hammond V, Gerty S, Ennis S, Simmonds P, Collins A, et al. The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer. Breast Cancer Res. 2008;10:R108 pubmed publisher..These findings require validation by further studies in similar patient groups. ..
- Rodriguez S, Gaunt T, O Dell S, Chen X, Gu D, Hawe E, et al. Haplotypic analyses of the IGF2-INS-TH gene cluster in relation to cardiovascular risk traits. Hum Mol Genet. 2004;13:715-25 pubmed..The functional element(s) of *5 for weight-lowering could reside in any of the three genes. ..
- Mann J, Patrick C, Cragg M, Honeychurch J, Mann D, Harris M. Functional analysis of HIV type 1 Nef reveals a role for PAK2 as a regulator of cell phenotype and function in the murine dendritic cell line, DC2.4. J Immunol. 2005;175:6560-9 pubmed..These data have clear implications for the role of Nef in early stages of HIV-1 infection and validate Nef as a valid target for development of antiviral chemotherapeutics. ..
- French R, Taraban V, Crowther G, Rowley T, Gray J, Johnson P, et al. Eradication of lymphoma by CD8 T cells following anti-CD40 monoclonal antibody therapy is critically dependent on CD27 costimulation. Blood. 2007;109:4810-5 pubmed
- Self J, Shawkat F, Malpas C, Thomas N, Harris C, Hodgkins P, et al. Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus. Arch Ophthalmol. 2007;125:1255-63 pubmed..While FRMD7 mutations may be found in some cases of X-linked congenital idiopathic nystagmus, the diagnostic yield is low. X-inactivation assays are unhelpful as a test for carrier status for this disease. ..
- Rae A, Street N, Robinson K, Harris N, Taylor G. Five QTL hotspots for yield in short rotation coppice bioenergy poplar: the Poplar Biomass Loci. BMC Plant Biol. 2009;9:23 pubmed publisher..QTL hotspots serve as useful targets for directed breeding for improved biomass productivity that may also be relevant across additional poplar hybrids. ..
- Chowdhury F, Johnson P, Williams A. Enumeration and phenotypic assessment of human plasmacytoid and myeloid dendritic cells in whole blood. Cytometry A. 2010;77:328-37 pubmed publisher..We have shown that this DC enumeration flow cytometry panel is a robust analysis system that allows the flexibility of including activation markers. ..
- Wang Y, Cutcliffe L, Skilton R, Persson K, Bjartling C, Clarke I. Transformation of a plasmid-free, genital tract isolate of Chlamydia trachomatis with a plasmid vector carrying a deletion in CDS6 revealed that this gene regulates inclusion phenotype. Pathog Dis. 2013;67:100-3 pubmed publisher..Our study demonstrates the power of the new genetic system for investigating chlamydial gene function using gene deletion technology...
- Loxham M, Davies D. Phenotypic and genetic aspects of epithelial barrier function in asthmatic patients. J Allergy Clin Immunol. 2017;139:1736-1751 pubmed publisher..We postulate that such abnormalities play a causal role in immune dysregulation in the airways by translating gene-environment interactions that underpin disease pathogenesis and exacerbation. ..
- Douglas A, Andreoletti G, Talbot K, Hammans S, Singh J, Whitney A, et al. ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. Neurogenetics. 2017;18:111-117 pubmed publisher..ADCY5-related dyskinesia may manifest variable expressivity within a single family, and affected individuals may be initially diagnosed with differing neurological phenotypes. ..
- Rodriguez S, Gaunt T, Dennison E, Chen X, Syddall H, Phillips D, et al. Replication of IGF2-INS-TH*5 haplotype effect on obesity in older men and study of related phenotypes. Eur J Hum Genet. 2006;14:109-16 pubmed..Our results, taken together with other data on IGFII levels and TH activity, point to the importance of (*)5 as an integrated polygenic haplotype relevant to obesity and insulin response to glucose in men. ..
- Mills R, Peaston K, Runions J, Williams L. HvHMA2, a P(1B)-ATPase from barley, is highly conserved among cereals and functions in Zn and Cd transport. PLoS ONE. 2012;7:e42640 pubmed publisher..When expressed in Arabidopsis, HvHMA2 localises predominantly to the plasma membrane...
- Mercer C, Gilbert R, Loughlin S, Foulds N. Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome. Clin Dysmorphol. 2006;15:211-2 pubmed
- Lillycrop K, Burdge G. Epigenetic mechanisms linking early nutrition to long term health. Best Pract Res Clin Endocrinol Metab. 2012;26:667-76 pubmed publisher..This review will focus on how nutritional cues in early life can alter the epigenome, producing different phenotypes and altered disease susceptibilities. ..
- Lotery A, Trump D. Progress in defining the molecular biology of age related macular degeneration. Hum Genet. 2007;122:219-36 pubmed..This review will give an insight into these developments and will summarise our current knowledge of the molecular biology of AMD...
- Poole R, Leith D, Docherty L, Shmela M, Gicquel C, Splitt M, et al. Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. Eur J Hum Genet. 2012;20:240-3 pubmed publisher..This is a second report of a point mutation causing ICR1 hypermethylation by altering an OCT-binding motif. The atypical growth phenotype of the brothers may be connected to the unusual underlying cause of their BWS. ..
- Burdge G, Lillycrop K. Nutrition, epigenetics, and developmental plasticity: implications for understanding human disease. Annu Rev Nutr. 2010;30:315-39 pubmed publisher..The purpose of this review is to discuss recent advances in understanding the mechanism that underlies the early life origins of disease and to place these studies in a broader life-course context. ..
- Forsberg L, Rasi C, Malmqvist N, Davies H, Pasupulati S, Pakalapati G, et al. Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer. Nat Genet. 2014;46:624-8 pubmed publisher..LOY in blood could become a predictive biomarker of male carcinogenesis...
- Hanley C, Mellone M, Ford K, Thirdborough S, Mellows T, Frampton S, et al. Targeting the Myofibroblastic Cancer-Associated Fibroblast Phenotype Through Inhibition of NOX4. J Natl Cancer Inst. 2018;110: pubmed publisher..02) and slow tumor growth (30.6%-64.0% decrease across different models, P â‰¤ .04). These data suggest that pharmacological inhibition of NOX4 may have broad applicability for stromal targeting across cancer types. ..
- Gilbert R, Fowler D, Angus E, Hardy S, Stanley L, Goodship T. Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B. Pediatr Nephrol. 2013;28:1315-8 pubmed publisher..On standard doses she had evidence of ongoing C5 cleavage despite a good clinical response. Eculizumab is effective therapy for aHUS associated with factor B mutations, but recommended doses may not be adequate for all patients. ..
- 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. ..
- Huang L, Vanstone M, Hartley T, Osmond M, Barrowman N, Allanson J, et al. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Hum Mutat. 2016;37:148-54 pubmed publisher..All reported EFTUD2 mutations can be found in the EFTUD2 mutation database (http://databases.lovd.nl/shared/genes/EFTUD2). ..
- Dennis N, Collins A, Crolla J, Cockwell A, Fisher A, Jacobs P. Three patients with ring (X) chromosomes and a severe phenotype. J Med Genet. 1993;30:482-6 pubmed
- Moody S, Escudero Ibarz L, Wang M, Clipson A, Ochoa Ruiz E, Dunn Walters D, et al. Significant association between TNFAIP3 inactivation and biased immunoglobulin heavy chain variable region 4-34 usage in mucosa-associated lymphoid tissue lymphoma. J Pathol. 2017;243:3-8 pubmed publisher..Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. ..
- Temple I, Shrubb V, Lever M, Bullman H, Mackay D. Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. J Med Genet. 2007;44:637-40 pubmed..This case provides support for the hypothesis that the maternal UPD14 phenotype is due to aberrant gene expression within the imprinted domain at 14q32...
- Turner C, Emery H, Collins A, Howarth R, Yearwood C, Cross E, et al. Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy. Am J Med Genet A. 2009;149A:161-70 pubmed publisher..005) and in those who had ectopia lentis (EL) (P < 0.0001). Other previously reported genotype-phenotype correlations were also considered and a new inverse association between a mutation in exons 59-65, and EL emerged (P = 0.002). ..
- Christodoulou K, Wiskin A, Gibson J, Tapper W, Willis C, Afzal N, et al. Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes. Gut. 2013;62:977-84 pubmed publisher..A unique profile of rare and potentially damaging variants was evident for each patient with this complex disease. ..