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Items: 1 to 50 of 133

1.

Autoantibodies of IgM and IgG classes show differences in recognition of multiple autoantigens in chronic obstructive pulmonary disease.

Shindi R, Almehairi A, Negm OH, Kalsheker N, Gale NS, Shale DJ, Harrison TW, Bolton CE, John M, Todd I, Tighe PJ, Fairclough LC.

Clin Immunol. 2017 Oct;183:344-353. doi: 10.1016/j.clim.2017.09.020. Epub 2017 Sep 23.

PMID:
28951328
2.

Variants in the fetal genome near FLT1 are associated with risk of preeclampsia.

McGinnis R, Steinthorsdottir V, Williams NO, Thorleifsson G, Shooter S, Hjartardottir S, Bumpstead S, Stefansdottir L, Hildyard L, Sigurdsson JK, Kemp JP, Silva GB, Thomsen LCV, Jääskeläinen T, Kajantie E, Chappell S, Kalsheker N, Moffett A, Hiby S, Lee WK, Padmanabhan S, Simpson NAB, Dolby VA, Staines-Urias E, Engel SM, Haugan A, Trogstad L, Svyatova G, Zakhidova N, Najmutdinova D; FINNPEC Consortium; GOPEC Consortium, Dominiczak AF, Gjessing HK, Casas JP, Dudbridge F, Walker JJ, Pipkin FB, Thorsteinsdottir U, Geirsson RT, Lawlor DA, Iversen AC, Magnus P, Laivuori H, Stefansson K, Morgan L.

Nat Genet. 2017 Aug;49(8):1255-1260. doi: 10.1038/ng.3895. Epub 2017 Jun 19.

3.

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.

Jackson VE, Ntalla I, Sayers I, Morris R, Whincup P, Casas JP, Amuzu A, Choi M, Dale C, Kumari M, Engmann J, Kalsheker N, Chappell S, Guetta-Baranes T, McKeever TM, Palmer CN, Tavendale R, Holloway JW, Sayer AA, Dennison EM, Cooper C, Bafadhel M, Barker B, Brightling C, Bolton CE, John ME, Parker SG, Moffat MF, Wardlaw AJ, Connolly MJ, Porteous DJ, Smith BH, Padmanabhan S, Hocking L, Stirrups KE, Deloukas P, Strachan DP, Hall IP, Tobin MD, Wain LV.

Thorax. 2016 Jun;71(6):501-9. doi: 10.1136/thoraxjnl-2015-207876. Epub 2016 Feb 25.

4.

Copy number variation of the beta-defensin genes in europeans: no supporting evidence for association with lung function, chronic obstructive pulmonary disease or asthma.

Wain LV, Odenthal-Hesse L, Abujaber R, Sayers I, Beardsmore C, Gaillard EA, Chappell S, Dogaru CM, McKeever T, Guetta-Baranes T, Kalsheker N, Kuehni CE, Hall IP, Tobin MD, Hollox EJ.

PLoS One. 2014 Jan 3;9(1):e84192. doi: 10.1371/journal.pone.0084192. eCollection 2014.

5.

A patient with the rare alpha-1-antitrypsin variant (Z)bristol in compound heterozygosity with the Z mutation.

Bates KJ, Puxley M, Hill M, Kalsheker N, Barlow A, Clark BE, Sherwood RA.

Ann Clin Biochem. 2013 Nov;50(Pt 6):618-21. doi: 10.1177/0004563213484303. Epub 2013 Jul 15.

PMID:
23858502
6.

Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions.

Lord J, Turton J, Medway C, Shi H, Brown K, Lowe J, Mann D, Pickering-Brown S, Kalsheker N, Passmore P, Morgan K; Alzheimer’s Research UK(ARUK) Consortium.

Int J Mol Epidemiol Genet. 2012;3(4):262-75. Epub 2012 Nov 15.

7.

Genetic variants influencing human aging from late-onset Alzheimer's disease (LOAD) genome-wide association studies (GWAS).

Shi H, Belbin O, Medway C, Brown K, Kalsheker N, Carrasquillo M, Proitsi P, Powell J, Lovestone S, Goate A, Younkin S, Passmore P; Genetic and Environmental Risk for Alzheimer's Disease Consortium, Morgan K; Alzheimer's Research UK Consortium.

Neurobiol Aging. 2012 Aug;33(8):1849.e5-18. doi: 10.1016/j.neurobiolaging.2012.02.014. Epub 2012 Mar 23.

8.

Structural dynamics associated with intermediate formation in an archetypal conformational disease.

Nyon MP, Segu L, Cabrita LD, Lévy GR, Kirkpatrick J, Roussel BD, Patschull AO, Barrett TE, Ekeowa UI, Kerr R, Waudby CA, Kalsheker N, Hill M, Thalassinos K, Lomas DA, Christodoulou J, Gooptu B.

Structure. 2012 Mar 7;20(3):504-12. doi: 10.1016/j.str.2012.01.012.

9.

Identification of SPARC-like 1 protein as part of a biomarker panel for Alzheimer's disease in cerebrospinal fluid.

Vafadar-Isfahani B, Ball G, Coveney C, Lemetre C, Boocock D, Minthon L, Hansson O, Miles AK, Janciauskiene SM, Warden D, Smith AD, Wilcock G, Kalsheker N, Rees R, Matharoo-Ball B, Morgan K.

J Alzheimers Dis. 2012;28(3):625-36. doi: 10.3233/JAD-2011-111505.

PMID:
22045497
10.

Matrix metalloproteinase-12 (MMP-12) SNP affects MMP activity, lung macrophage infiltration and protects against emphysema in COPD.

Haq I, Lowrey GE, Kalsheker N, Johnson SR.

Thorax. 2011 Nov;66(11):970-6. doi: 10.1136/thx.2011.159087. Epub 2011 Jul 5.

PMID:
21730350
11.

A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample.

Obeidat M, Wain LV, Shrine N, Kalsheker N, Soler Artigas M, Repapi E, Burton PR, Johnson T, Ramasamy A, Zhao JH, Zhai G, Huffman JE, Vitart V, Albrecht E, Igl W, Hartikainen AL, Pouta A, Cadby G, Hui J, Palmer LJ, Hadley D, McArdle WL, Rudnicka AR, Barroso I, Loos RJ, Wareham NJ, Mangino M, Soranzo N, Spector TD, Gläser S, Homuth G, Völzke H, Deloukas P, Granell R, Henderson J, Grkovic I, Jankovic S, Zgaga L, Polašek O, Rudan I, Wright AF, Campbell H, Wild SH, Wilson JF, Heinrich J, Imboden M, Probst-Hensch NM, Gyllensten U, Johansson Å, Zaboli G, Mustelin L, Rantanen T, Surakka I, Kaprio J, Jarvelin MR, Hayward C, Evans DM, Koch B, Musk AW, Elliott P, Strachan DP, Tobin MD, Sayers I, Hall IP; SpiroMeta Consortium.

PLoS One. 2011;6(5):e19382. doi: 10.1371/journal.pone.0019382. Epub 2011 May 20.

12.

Deletion of Serpina1a, a murine α1-antitrypsin ortholog, results in embryonic lethality.

Wang D, Wang W, Dawkins P, Paterson T, Kalsheker N, Sallenave JM, Houghton AM.

Exp Lung Res. 2011 Jun;37(5):291-300. doi: 10.3109/01902148.2011.554599. Epub 2011 May 16.

PMID:
21574874
13.

Using Fisher's method with PLINK 'LD clumped' output to compare SNP effects across Genome-wide Association Study (GWAS) datasets.

Shi H, Medway C, Brown K, Kalsheker N, Morgan K.

Int J Mol Epidemiol Genet. 2011 Jan 1;2(1):30-5. Epub 2010 Nov 25.

14.

Opportunities and challenges in the genetics of COPD 2010: an International COPD Genetics Conference report.

Silverman EK, Vestbo J, Agusti A, Anderson W, Bakke PS, Barnes KC, Barr RG, Bleecker ER, Boezen HM, Burkart KM, Celli BR, Cho MH, Cookson WO, Croxton T, Daley D, DeMeo DL, Gan W, Garcia-Aymerich J, Hall IP, Hansel NN, Hersh CP, Kalsheker N, Kiley JP, Kim WJ, Lambrechts D, Lee SD, Litonjua AA, Lomas DA, London SJ, Nishimura M, Nørdestgaard BG, O'Donnell CJ, Postma DS, Puhan MA, Tesfaigzi Y, Tobin MD, Vogelmeier C, Wilk JB, Wouters E, Young RP, Ziegler-Heitbrock L, MacNee W, Crapo JD.

COPD. 2011 Apr;8(2):121-35. doi: 10.3109/15412555.2011.558864. No abstract available.

15.

Investigating statistical epistasis in complex disorders.

Turton JC, Bullock J, Medway C, Shi H, Brown K, Belbin O, Kalsheker N, Carrasquillo MM, Dickson DW, Graff-Radford NR, Petersen RC, Younkin SG, Morgan K.

J Alzheimers Dis. 2011;25(4):635-44. doi: 10.3233/JAD-2011-110197.

PMID:
21483092
16.

The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.

Chappell SL, Daly L, Lotya J, Alsaegh A, Guetta-Baranes T, Roca J, Rabinovich R, Morgan K, Millar AB, Donnelly SC, Keatings V, MacNee W, Stolk J, Hiemstra PS, Miniati M, Monti S, O'Connor CM, Kalsheker N.

BMC Med Genet. 2011 Feb 14;12:24. doi: 10.1186/1471-2350-12-24.

17.

A multi-center study of ACE and the risk of late-onset Alzheimer's disease.

Belbin O, Brown K, Shi H, Medway C, Abraham R, Passmore P, Mann D, Smith AD, Holmes C, McGuinness B, Craig D, Warden D, Heun R, Kölsch H, Love S, Kalsheker N, Williams J, Owen MJ, Carrasquillo M, Younkin S, Morgan K, Kehoe PG.

J Alzheimers Dis. 2011;24(3):587-97. doi: 10.3233/JAD-2011-101914.

18.

Cognitive phenotypes in Alzheimer's disease and genetic variants in ACE and IDE.

Vardy ER, Brown K, Stopford CL, Thompson JC, Richardson AM, Neary D, Kalsheker N, Morgan K, Mann DM, Snowden JS.

Neurobiol Aging. 2012 Jul;33(7):1486.e1-2. doi: 10.1016/j.neurobiolaging.2010.11.003. Epub 2011 Jan 12.

PMID:
21232820
19.

A novel monoclonal antibody to characterize pathogenic polymers in liver disease associated with alpha1-antitrypsin deficiency.

Miranda E, Pérez J, Ekeowa UI, Hadzic N, Kalsheker N, Gooptu B, Portmann B, Belorgey D, Hill M, Chambers S, Teckman J, Alexander GJ, Marciniak SJ, Lomas DA.

Hepatology. 2010 Sep;52(3):1078-88. doi: 10.1002/hep.23760.

PMID:
20583215
20.

Concordant association of insulin degrading enzyme gene (IDE) variants with IDE mRNA, Abeta, and Alzheimer's disease.

Carrasquillo MM, Belbin O, Zou F, Allen M, Ertekin-Taner N, Ansari M, Wilcox SL, Kashino MR, Ma L, Younkin LH, Younkin SG, Younkin CS, Dincman TA, Howard ME, Howell CC, Stanton CM, Watson CM, Crump M, Vitart V, Hayward C, Hastie ND, Rudan I, Campbell H, Polasek O, Brown K, Passmore P, Craig D, McGuinness B, Todd S, Kehoe PG, Mann DM, Smith AD, Beaumont H, Warden D, Holmes C, Heun R, Kölsch H, Kalsheker N, Pankratz VS, Dickson DW, Graff-Radford NR, Petersen RC, Wright AF, Younkin SG, Morgan K.

PLoS One. 2010 Jan 19;5(1):e8764. doi: 10.1371/journal.pone.0008764.

21.

Association of MMP-2 polymorphisms with severe and very severe COPD: a case control study of MMPs-1, 9 and 12 in a European population.

Haq I, Chappell S, Johnson SR, Lotya J, Daly L, Morgan K, Guetta-Baranes T, Roca J, Rabinovich R, Millar AB, Donnelly SC, Keatings V, MacNee W, Stolk J, Hiemstra PS, Miniati M, Monti S, O'Connor CM, Kalsheker N.

BMC Med Genet. 2010 Jan 15;11:7. doi: 10.1186/1471-2350-11-7.

22.

Analysis of Genome-Wide Association Study (GWAS) data looking for replicating signals in Alzheimer's disease (AD).

Shi H, Medway C, Bullock J, Brown K, Kalsheker N, Morgan K.

Int J Mol Epidemiol Genet. 2010;1(1):53-66. Epub 2009 Nov 15.

23.

Using In silico LD clumping and meta-analysis of genome-wide datasets as a complementary tool to investigate and validate new candidate biomarkers in Alzheimer's disease.

Medway C, Shi H, Bullock J, Black H, Brown K, Vafadar-Isfahani B, Matharoo-Ball B, Ball G, Rees R, Kalsheker N, Morgan K.

Int J Mol Epidemiol Genet. 2010 Mar 18;1(2):134-44.

24.

EDNRA variants associate with smooth muscle mRNA levels, cell proliferation rates, and cystic fibrosis pulmonary disease severity.

Darrah R, McKone E, O'Connor C, Rodgers C, Genatossio A, McNamara S, Gibson R, Stuart Elborn J, Ennis M, Gallagher CG, Kalsheker N, Aitken M, Wiese D, Dunn J, Smith P, Pace R, Londono D, Goddard KA, Knowles MR, Drumm ML.

Physiol Genomics. 2010 Mar 3;41(1):71-7. doi: 10.1152/physiolgenomics.00185.2009. Epub 2009 Dec 22.

25.

alpha1-Antitrypsin deficiency: best clinical practice.

Kalsheker NA.

J Clin Pathol. 2009 Oct;62(10):865-9. doi: 10.1136/jcp.2008.063495.

PMID:
19783716
26.

Polymorphism in the endoplasmic reticulum mannosidase I (MAN1B1) gene is not associated with liver disease in individuals homozygous for the Z variant of the alpha1-antitrypsin protease inhibitor (PiZZ individuals).

Chappell S, Guetta-Baranés T, Hadzic N, Stockley R, Kalsheker N.

Hepatology. 2009 Oct;50(4):1315; author reply 1315-6. doi: 10.1002/hep.23170. No abstract available.

PMID:
19739260
27.

A study of three candidate genes for pre-eclampsia in a Sinhalese population from Sri Lanka.

Dissanayake VH, Giles V, Jayasekara RW, Seneviratne HR, Kalsheker N, Broughton Pipkin F, Morgan L.

J Obstet Gynaecol Res. 2009 Apr;35(2):234-42.

PMID:
19708171
28.

The alpha-1-antitrypsin gene promoter in human A549 lung derived cells, and a novel transcription initiation site.

Morgan K, Chappell S, Guetta-Baranés T, Morley S, Kalsheker N.

Int J Biochem Cell Biol. 2009 May;41(5):1157-64. doi: 10.1016/j.biocel.2008.10.020. Epub 2008 Oct 28.

PMID:
19010440
29.

The new genetics and chronic obstructive pulmonary disease.

Kalsheker N, Chappell S.

COPD. 2008 Aug;5(4):257-64. doi: 10.1080/15412550802237556. Review.

PMID:
18671150
30.

Genetic variants of microsomal epoxide hydrolase and glutamate-cysteine ligase in COPD.

Chappell S, Daly L, Morgan K, Guetta-Baranes T, Roca J, Rabinovich R, Lotya J, Millar AB, Donnelly SC, Keatings V, MacNee W, Stolk J, Hiemstra PS, Miniati M, Monti S, O'Connor CM, Kalsheker N.

Eur Respir J. 2008 Oct;32(4):931-7. doi: 10.1183/09031936.00065308. Epub 2008 Jul 9.

31.

PSEN1 polymorphisms alter the rate of cognitive decline in sporadic Alzheimer's disease patients.

Belbin O, Beaumont H, Warden D, Smith AD, Kalsheker N, Morgan K.

Neurobiol Aging. 2009 Dec;30(12):1992-9. doi: 10.1016/j.neurobiolaging.2008.02.013. Epub 2008 Apr 9.

PMID:
18403054
32.

Alpha1-antitrypsin deficiency: current perspective on research, diagnosis, and management.

Stolk J, Seersholm N, Kalsheker N.

Int J Chron Obstruct Pulmon Dis. 2006;1(2):151-60. Review.

33.

A polymorphism of the alpha1-antitrypsin gene represents a risk factor for liver disease.

Chappell S, Hadzic N, Stockley R, Guetta-Baranes T, Morgan K, Kalsheker N.

Hepatology. 2008 Jan;47(1):127-32.

PMID:
17972336
34.

Variation in the tumour necrosis factor gene is not associated with susceptibility to COPD.

Chappell S, Daly L, Morgan K, Baranes TG, Roca J, Rabinovich R, Millar A, Donnelly SC, Keatings V, Macnee W, Stolk J, Hiemstra PS, Miniati M, Monti S, O'Connor CM, Kalsheker N.

Eur Respir J. 2007 Oct;30(4):810-2. No abstract available.

35.

Regulatory region single nucleotide polymorphisms of the apolipoprotein E gene and the rate of cognitive decline in Alzheimer's disease.

Belbin O, Dunn JL, Ling Y, Morgan L, Chappell S, Beaumont H, Warden D, Smith DA, Kalsheker N, Morgan K.

Hum Mol Genet. 2007 Sep 15;16(18):2199-208. Epub 2007 Jul 5.

PMID:
17613540
36.

SERPINA3 (aka alpha-1-antichymotrypsin).

Baker C, Belbin O, Kalsheker N, Morgan K.

Front Biosci. 2007 May 1;12:2821-35. Review.

PMID:
17485262
37.

Polymorphism in the epidermal growth factor gene is associated with birthweight in Sinhalese and white Western Europeans.

Dissanayake VH, Tower C, Broderick A, Stocker LJ, Seneviratne HR, Jayasekara RW, Kalsheker N, Broughton Pipkin F, Morgan L.

Mol Hum Reprod. 2007 Jun;13(6):425-9. Epub 2007 Mar 28.

PMID:
17392355
38.

A SNP in the ACT gene associated with astrocytosis and rapid cognitive decline in AD.

Belbin O, Dunn JL, Chappell S, Ritchie AE, Ling Y, Morgan L, Pritchard A, Warden DR, Lendon CL, Lehmann DJ, Mann DM, Smith AD, Kalsheker N, Morgan K.

Neurobiol Aging. 2008 Aug;29(8):1167-76. Epub 2007 Mar 26.

PMID:
17368652
39.

The hydroxy-methyl-glutaryl CoA reductase promoter polymorphism is associated with Alzheimer's risk and cognitive deterioration.

Porcellini E, Calabrese E, Guerini F, Govoni M, Chiappelli M, Tumini E, Morgan K, Chappell S, Kalsheker N, Franceschi M, Licastro F.

Neurosci Lett. 2007 Apr 6;416(1):66-70. Epub 2007 Jan 25.

PMID:
17284348
40.

The SERPINE2 gene and chronic obstructive pulmonary disease.

Chappell S, Daly L, Morgan K, Baranes TG, Roca J, Rabinovich R, Millar A, Donnelly SC, Keatings V, MacNee W, Stolk J, Hiemstra PS, Miniati M, Monti S, O'Connor CM, Kalsheker N.

Am J Hum Genet. 2006 Jul;79(1):184-6; author reply 186-7. No abstract available.

41.

Association of improved pulmonary phenotype in Irish cystic fibrosis patients with a 3' enhancer polymorphism in alpha-1-antitrypsin.

Courtney JM, Plant BJ, Morgan K, Rendall J, Gallagher C, Ennis M, Kalsheker N, Elborn S, O'Connor CM.

Pediatr Pulmonol. 2006 Jun;41(6):584-91.

PMID:
16617455
42.

Angiotensinogen gene variants and small-for-gestational-age infants.

Tower C, Chappell S, Kalsheker N, Baker P, Morgan L.

BJOG. 2006 Mar;113(3):335-9.

43.

Altered transmission of maternal angiotensin II receptor haplotypes in fetal growth restriction.

Tower C, Chappell S, Acharya M, Crane R, Szolin S, Symonds L, Chevins H, Kalsheker N, Baker P, Morgan L.

Hum Mutat. 2006 Feb;27(2):138-44.

PMID:
16395664
44.

Effects of Alzheimer's peptide and alpha1-antichymotrypsin on astrocyte gene expression.

Baker C, Nielsen HM, Minthon L, Wright HT, Chappell S, Okyere J, May S, Morgan K, Kalsheker N, Janciauskiene SM.

Neurobiol Aging. 2007 Jan;28(1):51-61. Epub 2005 Dec 20.

PMID:
16364502
45.

Transforming growth factor beta1 regulates angiotensin II type I receptor gene expression in the extravillous trophoblast cell line SGHPL-4.

Tower CL, Chappell SL, Morgan K, Kalsheker N, Baker PN, Morgan LJ.

Mol Hum Reprod. 2005 Dec;11(12):847-52. Epub 2005 Dec 9.

PMID:
16339777
46.

Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease.

Chappell S, Daly L, Morgan K, Guetta Baranes T, Roca J, Rabinovich R, Millar A, Donnelly SC, Keatings V, MacNee W, Stolk J, Hiemstra P, Miniati M, Monti S, O'Connor CM, Kalsheker N.

Hum Mutat. 2006 Jan;27(1):103-9.

PMID:
16278826
47.

A new promoter polymorphism in the alpha-1-antichymotrypsin gene is a disease modifier of Alzheimer's disease.

Licastro F, Chiappelli M, Grimaldi LM, Morgan K, Kalsheker N, Calabrese E, Ritchie A, Porcellini E, Salani G, Franceschi M, Canal N.

Neurobiol Aging. 2005 Apr;26(4):449-53.

PMID:
15653173
48.

Haplotypes of the alpha-1 antitrypsin gene in healthy controls and Z deficiency patients.

Chappell S, Guetta-Baranés T, Batowski K, Yiannakis E, Morgan K, O'Connor C, MacNee W, Kalsheker N.

Hum Mutat. 2004 Dec;24(6):535-6.

PMID:
15532029
49.

Allele-specific overexpression in astrocytes of an Alzheimer's disease associated alpha-1-antichymotrypsin promoter polymorphism.

Ritchie A, Morgan K, Kalsheker N.

Brain Res Mol Brain Res. 2004 Nov 24;131(1-2):88-92.

PMID:
15530656
50.

Haplotypes of the angiotensin II receptor genes AGTR1 and AGTR2 in women with normotensive pregnancy and women with preeclampsia.

Plummer S, Tower C, Alonso P, Morgan L, Baker P, Broughton-Pipkin F, Kalsheker N.

Hum Mutat. 2004 Jul;24(1):14-20.

PMID:
15221785

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