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Functional characterization of the chicken fatty acid elongases.

Gregory M.K., Geier M.S., Gibson R.A., James M.J.

J. Nutr. 143:12-16(2013) · UniProtKB (1) · Mapped (1)

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

Boileau C., Guo D.C., Hanna N., Regalado E.S., Detaint D., Gong L., Varret M., Prakash S.K., Li A.H., d'Indy H. et al.

Nat. Genet. 44:916-921(2012) · Mapped (5)

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.

Emond M.J., Louie T., Emerson J., Zhao W., Mathias R.A., Knowles M.R., Wright F.A., Rieder M.J., Tabor H.K., Nickerson D.A. et al.

Nat. Genet. 44:886-889(2012) · Mapped (4)

An alternative n-3 fatty acid elongation pathway utilising 18:3n-3 in barramundi (Lates calcarifer).

Tu W.C., Muhlhausler B.S., James M.J., Stone D.A., Gibson R.A.

Biochem. Biophys. Res. Commun. 423:176-182(2012) · UniProtKB (1)

Multiple gene sequences resolve phylogenetic relationships in the shorebird suborder Scolopaci (Aves: Charadriiformes).

Gibson R., Baker A.

Mol. Phylogenet. Evol. 64:66-72(2012) · UniProtKB (66)

Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population.

Gan W., Guan Y., Wu Q., An P., Zhu J., Lu L., Jing L., Yu Y., Ruan S., Xie D. et al.

Am. J. Clin. Nutr. 95:626-632(2012) · Mapped (1)

Elongase reactions as control points in long-chain polyunsaturated fatty acid synthesis.

Gregory M.K., Gibson R.A., Cook-Johnson R.J., Cleland L.G., James M.J.

PLoS ONE 6:e29662-e29662(2011) · UniProtKB (2)

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

Genetic Disorders of Mucociliary Clearance Consortium
Knowles M.R., Leigh M.W., Carson J.L., Davis S.D., Dell S.D., Ferkol T.W., Olivier K.N., Sagel S.D., Rosenfeld M., Burns K.A. et al.

Thorax 67:433-441(2012) · UniProtKB (2) · Mapped (7)

Translation initiator EIF4G1 mutations in familial Parkinson disease.

Chartier-Harlin M.C., Dachsel J.C., Vilarino-Guell C., Lincoln S.J., Lepretre F., Hulihan M.M., Kachergus J., Milnerwood A.J., Tapia L., Song M.S. et al.

Am. J. Hum. Genet. 89:398-406(2011) · UniProtKB (1) · Mapped (9)

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.

Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium
Ross O.A., Soto-Ortolaza A.I., Heckman M.G., Aasly J.O., Abahuni N., Annesi G., Bacon J.A., Bardien S., Bozi M., Brice A. et al.

Lancet Neurol 10:898-908(2011) · Mapped (4)

A microfluidic platform for high-sensitivity, real-time drug screening on C. elegans and parasitic nematodes.

Carr J.A., Parashar A., Gibson R., Robertson A.P., Martin R.J., Pandey S.

Lab Chip 11:2385-2396(2011) · Mapped (1)

Fatty acid desaturase 2 promoter mutation is not responsible for Delta6-desaturase deficiency.

Gregory M.K., Lester S.E., Cook-Johnson R.J., Gibson R.A., Proudman S.M., Cleland L.G., James M.J.

Eur. J. Hum. Genet. 19:1202-1204(2011) · Mapped (6)

Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa.

Jasinska-Myga B., Kachergus J., Vilarino-Guell C., Wider C., Soto-Ortolaza A.I., Kefi M., Middleton L.T., Ishihara-Paul L., Gibson R.A., Amouri R. et al.

Mov. Disord. 25:2052-2058(2010) · Mapped (4)

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.

Kasperaviciute D., Catarino C.B., Heinzen E.L., Depondt C., Cavalleri G.L., Caboclo L.O., Tate S.K., Jamnadas-Khoda J., Chinthapalli K., Clayton L.M. et al.

Brain 133:2136-2147(2010) · Mapped (4)

Mechanistic insight into enzymatic glycosyl transfer with retention of configuration through analysis of glycomimetic inhibitors.

Errey J.C., Lee S.S., Gibson R.P., Martinez Fleites C., Barry C.S., Jung P.M., O'Sullivan A.C., Davis B.G., Davies G.J.

Angew. Chem. Int. Ed. Engl. 49:1234-1237(2010) · Mapped (1)

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 C.G. et al.

Physiol. Genomics 41:71-77(2010) · Mapped (21)

Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa.

Nishioka K., Vilarino-Guell C., Cobb S.A., Kachergus J.M., Ross O.A., Wider C., Gibson R.A., Hentati F., Farrer M.J.

Neurosci. Lett. 477:57-60(2010) · Mapped (1)

Cloning and functional characterisation of a fatty acyl elongase from southern bluefin tuna (Thunnus maccoyii).

Gregory M.K., See V.H., Gibson R.A., Schuller K.A.

Comp. Biochem. Physiol. B, Biochem. Mol. Biol. 155:178-185(2010) · UniProtKB (2)

Genetic modifiers of liver disease in cystic fibrosis.

Bartlett J.R., Friedman K.J., Ling S.C., Pace R.G., Bell S.C., Bourke B., Castaldo G., Castellani C., Cipolli M., Colombo C. et al.

JAMA 302:1076-1083(2009) · Mapped (23)

A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease.

Nishioka K., Kefi M., Jasinska-Myga B., Wider C., Vilarino-Guell C., Ross O.A., Heckman M.G., Middleton L.T., Ishihara-Paul L., Gibson R.A. et al.

J. Neurol. Neurosurg. Psychiatr. 81:391-395(2010) · Mapped (20)

Plasma apelin levels in obstructive sleep apnea and the effect of continuous positive airway pressure therapy.

Henley D.E., Buchanan F., Gibson R., Douthwaite J.A., Wood S.A., Woltersdorf W.W., Catterall J.R., Lightman S.L.

J. Endocrinol. 203:181-188(2009) · Mapped (4)

Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.

International MS Genetics Consortium
De Jager P.L., Jia X., Wang J., de Bakker P.I., Ottoboni L., Aggarwal N.T., Piccio L., Raychaudhuri S., Tran D., Aubin C. et al.

Nat. Genet. 41:776-782(2009) · Mapped (1,336)

CCR5- and CXCR4-tropic subtype C human immunodeficiency virus type 1 isolates have a lower level of pathogenic fitness than other dominant group M subtypes: implications for the epidemic.

Abraha A., Nankya I.L., Gibson R., Demers K., Tebit D.M., Johnston E., Katzenstein D., Siddiqui A., Herrera C., Fischetti L. et al.

J. Virol. 83:5592-5605(2009) · UniProtKB (22) · Mapped (24)

ATP13A2 variability in Parkinson disease.

Vilarino-Guell C., Soto A.I., Lincoln S.J., Ben Yahmed S., Kefi M., Heckman M.G., Hulihan M.M., Chai H., Diehl N.N., Amouri R. et al.

Hum. Mutat. 30:406-410(2009) · UniProtKB (1) · Mapped (4)

Anatomically-distinct genetic associations of APOE epsilon4 allele load with regional cortical atrophy in Alzheimer's disease.

Filippini N., Rao A., Wetten S., Gibson R.A., Borrie M., Guzman D., Kertesz A., Loy-English I., Williams J., Nichols T. et al.

Neuroimage 44:724-728(2009) · Mapped (5)

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