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Items: 1 to 50 of 75

1.

Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans.

Young AT, Ly KN, Wilson C, Lehnert K, Snell RG, Reid SJ, Jacobsen JC.

Dis Model Mech. 2018 Sep 28. pii: dmm.035709. doi: 10.1242/dmm.035709. [Epub ahead of print]

2.

Genomic medicine must reduce, not compound, health inequities: the case for hauora-enhancing genomic resources for New Zealand.

Robertson SP, Hindmarsh JH, Berry S, Cameron VA, Cox MP, Dewes O, Doughty RN, Gray G, Jacobsen JC, Laurence A, Matisoo-Smith E, Morton S, Shelling AN, Sika-Paotonu D, Rolleston A, Skinner JR, Snell RG, Sporle A, Print C, Merriman TR, Hudson M, Wilcox P.

N Z Med J. 2018 Aug 17;131(1480):81-89.

PMID:
30116069
3.

Identification of an immune modulation locus utilising a bovine mammary gland infection challenge model.

Littlejohn MD, Turner SA, Walker CG, Berry SD, Tiplady K, Sherlock RG, Sutherland G, Swift S, Garrick D, Lacy-Hulbert SJ, McDougall S, Spelman RJ, Snell RG, Hillerton JE.

J Dairy Res. 2018 May;85(2):185-192. doi: 10.1017/S0022029918000158.

PMID:
29785904
4.

Emergence of breath testing as a new non-invasive diagnostic modality for neurodegenerative diseases.

Subramaniam NS, Bawden CS, Waldvogel H, Faull RML, Howarth GS, Snell RG.

Brain Res. 2018 Jul 15;1691:75-86. doi: 10.1016/j.brainres.2018.04.017. Epub 2018 Apr 22. Review.

PMID:
29684335
5.

Re: "Widespread prevalence of a CREBRF variant amongst Māori and Pacific children is associated with weight and height in early childhood".

Berry SD, Walker CG, Ly K, Snell RG, Atatoa Carr PE, Bandara D, Mohal J, Castro TG, Marks E, Morton SMB, Grant CC.

Int J Obes (Lond). 2018 Jul;42(7):1392-1393. doi: 10.1038/s41366-018-0026-0. Epub 2018 Feb 9. No abstract available.

PMID:
29463920
6.

DNA and RNA-sequence based GWAS highlights membrane-transport genes as key modulators of milk lactose content.

Lopdell TJ, Tiplady K, Struchalin M, Johnson TJJ, Keehan M, Sherlock R, Couldrey C, Davis SR, Snell RG, Spelman RJ, Littlejohn MD.

BMC Genomics. 2017 Dec 15;18(1):968. doi: 10.1186/s12864-017-4320-3.

7.

Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases.

Handley RR, Reid SJ, Brauning R, Maclean P, Mears ER, Fourie I, Patassini S, Cooper GJS, Rudiger SR, McLaughlan CJ, Verma PJ, Gusella JF, MacDonald ME, Waldvogel HJ, Bawden CS, Faull RLM, Snell RG.

Proc Natl Acad Sci U S A. 2017 Dec 26;114(52):E11293-E11302. doi: 10.1073/pnas.1711243115. Epub 2017 Dec 11.

8.

Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair.

Jacobsen JC, Whitford W, Swan B, Taylor J, Love DR, Hill R, Molyneux S, George PM, Mackay R, Robertson SP, Snell RG, Lehnert K.

JIMD Rep. 2017 Nov 21. doi: 10.1007/8904_2017_73. [Epub ahead of print]

PMID:
29159460
9.

Widespread prevalence of a CREBRF variant amongst Māori and Pacific children is associated with weight and height in early childhood.

Berry SD, Walker CG, Ly K, Snell RG, Atatoa Carr PE, Bandara D, Mohal J, Castro TG, Marks EJ, Morton SMB, Grant CC.

Int J Obes (Lond). 2018 Apr;42(4):603-607. doi: 10.1038/ijo.2017.230. Epub 2017 Sep 20.

PMID:
28928463
10.

Alzheimer's disease markers in the aged sheep (Ovis aries).

Reid SJ, Mckean NE, Henty K, Portelius E, Blennow K, Rudiger SR, Bawden CS, Handley RR, Verma PJ, Faull RLM, Waldvogel HJ, Zetterberg H, Snell RG.

Neurobiol Aging. 2017 Oct;58:112-119. doi: 10.1016/j.neurobiolaging.2017.06.020. Epub 2017 Jun 24.

PMID:
28728117
11.

Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.

Whitford W, Hawkins I, Glamuzina E, Wilson F, Marshall A, Ashton F, Love DR, Taylor J, Hill R, Lehnert K, Snell RG, Jacobsen JC.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a001909. doi: 10.1101/mcs.a001909. Print 2017 Nov.

12.

The Complexity of Clinical Huntington's Disease: Developments in Molecular Genetics, Neuropathology and Neuroimaging Biomarkers.

Tippett LJ, Waldvogel HJ, Snell RG, Vonsattel JP, Young AB, Faull RLM.

Adv Neurobiol. 2017;15:129-161. doi: 10.1007/978-3-319-57193-5_5.

PMID:
28674980
13.

Functional confirmation of PLAG1 as the candidate causative gene underlying major pleiotropic effects on body weight and milk characteristics.

Fink T, Tiplady K, Lopdell T, Johnson T, Snell RG, Spelman RJ, Davis SR, Littlejohn MD.

Sci Rep. 2017 Mar 21;7:44793. doi: 10.1038/srep44793.

14.

Potential molecular consequences of transgene integration: The R6/2 mouse example.

Jacobsen JC, Erdin S, Chiang C, Hanscom C, Handley RR, Barker DD, Stortchevoi A, Blumenthal I, Reid SJ, Snell RG, MacDonald ME, Morton AJ, Ernst C, Gusella JF, Talkowski ME.

Sci Rep. 2017 Jan 25;7:41120. doi: 10.1038/srep41120.

15.

Comparison of Huntington's disease CAG Repeat Length Stability in Human Motor Cortex and Cingulate Gyrus.

Geraerts FC, Snell RG, Faull RL, Williams L, Jacobsen JC, Reid SJ.

J Huntingtons Dis. 2016 Oct 1;5(3):297-301.

PMID:
27716680
16.

Metabolite mapping reveals severe widespread perturbation of multiple metabolic processes in Huntington's disease human brain.

Patassini S, Begley P, Xu J, Church SJ, Reid SJ, Kim EH, Curtis MA, Dragunow M, Waldvogel HJ, Snell RG, Unwin RD, Faull RL, Cooper GJ.

Biochim Biophys Acta. 2016 Sep;1862(9):1650-62. doi: 10.1016/j.bbadis.2016.06.002. Epub 2016 Jun 4.

17.

Sequence-based Association Analysis Reveals an MGST1 eQTL with Pleiotropic Effects on Bovine Milk Composition.

Littlejohn MD, Tiplady K, Fink TA, Lehnert K, Lopdell T, Johnson T, Couldrey C, Keehan M, Sherlock RG, Harland C, Scott A, Snell RG, Davis SR, Spelman RJ.

Sci Rep. 2016 May 5;6:25376. doi: 10.1038/srep25376.

18.

Epigenetic regulation of pyruvate carboxylase gene expression in the postpartum liver.

Walker CG, Crookenden MA, Henty KM, Handley RR, Kuhn-Sherlock B, White HM, Donkin SS, Snell RG, Meier S, Heiser A, Loor JJ, Mitchell MD, Roche JR.

J Dairy Sci. 2016 Jul;99(7):5820-5827. doi: 10.3168/jds.2015-10331. Epub 2016 Apr 13.

PMID:
27085418
19.

Metabolic disruption identified in the Huntington's disease transgenic sheep model.

Handley RR, Reid SJ, Patassini S, Rudiger SR, Obolonkin V, McLaughlan CJ, Jacobsen JC, Gusella JF, MacDonald ME, Waldvogel HJ, Bawden CS, Faull RL, Snell RG.

Sci Rep. 2016 Feb 11;6:20681. doi: 10.1038/srep20681.

20.

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.

Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K.

Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26.

21.

Identification of elevated urea as a severe, ubiquitous metabolic defect in the brain of patients with Huntington's disease.

Patassini S, Begley P, Reid SJ, Xu J, Church SJ, Curtis M, Dragunow M, Waldvogel HJ, Unwin RD, Snell RG, Faull RL, Cooper GJ.

Biochem Biophys Res Commun. 2015 Dec 4-11;468(1-2):161-6. doi: 10.1016/j.bbrc.2015.10.140. Epub 2015 Oct 30.

PMID:
26522227
22.

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

Jacobsen JC, Wilson C, Cunningham V, Glamuzina E, Prosser DO, Love DR, Burgess T, Taylor J, Swan B, Hill R, Robertson SP, Snell RG, Lehnert K.

J Inherit Metab Dis. 2016 Mar;39(2):305-8. doi: 10.1007/s10545-015-9897-6. Epub 2015 Oct 26.

PMID:
26497564
23.

Rapid RNA analysis of individual Caenorhabditis elegans.

Ly K, Reid SJ, Snell RG.

MethodsX. 2015 Feb 7;2:59-63. doi: 10.1016/j.mex.2015.02.002. eCollection 2015.

24.

Phenotypic population screen identifies a new mutation in bovine DGAT1 responsible for unsaturated milk fat.

Lehnert K, Ward H, Berry SD, Ankersmit-Udy A, Burrett A, Beattie EM, Thomas NL, Harris B, Ford CA, Browning SR, Rawson P, Verkerk GA, van der Does Y, Adams LF, Davis SR, Jordan TW, MacGibbon AK, Spelman RJ, Snell RG.

Sci Rep. 2015 Feb 26;5:8484. doi: 10.1038/srep08484.

25.

Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle.

Littlejohn MD, Henty KM, Tiplady K, Johnson T, Harland C, Lopdell T, Sherlock RG, Li W, Lukefahr SD, Shanks BC, Garrick DJ, Snell RG, Spelman RJ, Davis SR.

Nat Commun. 2014 Dec 18;5:5861. doi: 10.1038/ncomms6861.

26.

Estimation of genetic and crossbreeding parameters of fatty acid concentrations in milk fat predicted by mid-infrared spectroscopy in New Zealand dairy cattle.

Lopez-Villalobos N, Spelman RJ, Melis J, Davis SR, Berry SD, Lehnert K, Holroyd SE, MacGibbon AK, Snell RG.

J Dairy Res. 2014 Aug;81(3):340-9. doi: 10.1017/S0022029914000272.

PMID:
25052435
27.

Gene expression in liver and adipose tissue is altered during and after temporary changes to postpartum milking frequency.

Grala TM, Phyn CV, Kay JK, Rius AG, Lucy MC, Littlejohn MD, Snell RG, Roche JR.

J Dairy Sci. 2014 May;97(5):2701-17. doi: 10.3168/jds.2013-7024. Epub 2014 Mar 5.

PMID:
24612814
28.

Early and progressive circadian abnormalities in Huntington's disease sheep are unmasked by social environment.

Morton AJ, Rudiger SR, Wood NI, Sawiak SJ, Brown GC, Mclaughlan CJ, Kuchel TR, Snell RG, Faull RL, Bawden CS.

Hum Mol Genet. 2014 Jul 1;23(13):3375-83. doi: 10.1093/hmg/ddu047. Epub 2014 Jan 31.

PMID:
24488771
29.

Expression variants of the lipogenic AGPAT6 gene affect diverse milk composition phenotypes in Bos taurus.

Littlejohn MD, Tiplady K, Lopdell T, Law TA, Scott A, Harland C, Sherlock R, Henty K, Obolonkin V, Lehnert K, Macgibbon A, Spelman RJ, Davis SR, Snell RG.

PLoS One. 2014 Jan 21;9(1):e85757. doi: 10.1371/journal.pone.0085757. eCollection 2014.

30.

The expression of genes involved in hepatic metabolism is altered by temporary changes to milking frequency.

Grala TM, Roche JR, Kay JK, Rius AG, White HM, Donkin SS, Littlejohn MD, Snell RG, Phyn CV.

J Dairy Sci. 2014 Feb;97(2):838-50. doi: 10.3168/jds.2013-7321. Epub 2013 Dec 15.

PMID:
24342696
31.

Expression of key lipid metabolism genes in adipose tissue is not altered by once-daily milking during a feed restriction of grazing dairy cows.

Grala TM, Roche JR, Phyn CV, Rius AG, Boyle RH, Snell RG, Kay JK.

J Dairy Sci. 2013;96(12):7753-64. doi: 10.3168/jds.2013-6849. Epub 2013 Oct 11.

PMID:
24119796
32.

Reducing milking frequency during nutrient restriction has no effect on the hepatic transcriptome of lactating dairy cattle.

Grala TM, Kay JK, Phyn CV, Bionaz M, Walker CG, Rius AG, Snell RG, Roche JR.

Physiol Genomics. 2013 Dec 1;45(23):1157-67. doi: 10.1152/physiolgenomics.00134.2013. Epub 2013 Oct 8.

33.

Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates.

Huntington's Disease Sheep Collaborative Research Group, Reid SJ, Patassini S, Handley RR, Rudiger SR, McLaughlan CJ, Osmand A, Jacobsen JC, Morton AJ, Weiss A, Waldvogel HJ, MacDonald ME, Gusella JF, Bawden CS, Faull RL, Snell RG.

J Huntingtons Dis. 2013;2(3):279-95. doi: 10.3233/JHD-130067.

PMID:
25062676
34.

Metabolic proteomics of the liver and mammary gland during lactation.

Rawson P, Stockum C, Peng L, Manivannan B, Lehnert K, Ward HE, Berry SD, Davis SR, Snell RG, McLauchlan D, Jordan TW.

J Proteomics. 2012 Jul 19;75(14):4429-35. doi: 10.1016/j.jprot.2012.04.019. Epub 2012 Apr 24.

PMID:
22554911
35.

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.

Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RL, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF, Talkowski ME.

Nat Genet. 2012 Mar 4;44(4):390-7, S1. doi: 10.1038/ng.2202.

36.

Mapping a quantitative trait locus for the concentration of beta-lactoglobulin in milk, and the effect of beta-lactoglobulin genetic variants on the composition of milk from Holstein-Friesian x Jersey crossbred cows.

Berry SD, Lopez-Villalobos N, Beattie EM, Davis SR, Adams LF, Thomas NL, Ankersmit-Udy AE, Stanfield AM, Lehnert K, Ward HE, Arias JA, Spelman RJ, Snell RG.

N Z Vet J. 2010 Feb;58(1):1-5. doi: 10.1080/00480169.2010.65053.

PMID:
20200568
37.

An ovine transgenic Huntington's disease model.

Jacobsen JC, Bawden CS, Rudiger SR, McLaughlan CJ, Reid SJ, Waldvogel HJ, MacDonald ME, Gusella JF, Walker SK, Kelly JM, Webb GC, Faull RL, Rees MI, Snell RG.

Hum Mol Genet. 2010 May 15;19(10):1873-82. doi: 10.1093/hmg/ddq063. Epub 2010 Feb 13.

38.

Effects of reduced frequency of milk removal on gene expression in the bovine mammary gland.

Littlejohn MD, Walker CG, Ward HE, Lehnert KB, Snell RG, Verkerk GA, Spelman RJ, Clark DA, Davis SR.

Physiol Genomics. 2010 Mar 3;41(1):21-32. doi: 10.1152/physiolgenomics.00108.2009. Epub 2009 Dec 8.

PMID:
19996161
39.

Mutation in bovine beta-carotene oxygenase 2 affects milk color.

Berry SD, Davis SR, Beattie EM, Thomas NL, Burrett AK, Ward HE, Stanfield AM, Biswas M, Ankersmit-Udy AE, Oxley PE, Barnett JL, Pearson JF, van der Does Y, Macgibbon AH, Spelman RJ, Lehnert K, Snell RG.

Genetics. 2009 Jul;182(3):923-6. doi: 10.1534/genetics.109.101741. Epub 2009 Apr 27.

40.

A splice variant of the TATA-box binding protein encoding the polyglutamine-containing N-terminal domain that accumulates in Alzheimer's disease.

Reid SJ, Whittaker DJ, Greenwood D, Snell RG.

Brain Res. 2009 May 1;1268:190-199. doi: 10.1016/j.brainres.2009.03.004. Epub 2009 Mar 12.

PMID:
19285969
41.

Emerging technologies for identifying superior dairy cows in New Zealand.

Garrick DJ, Snell RG.

N Z Vet J. 2005 Dec;53(6):390-399. Review.

PMID:
16317439
42.

A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire.

Ford CA, Stanfield AM, Spelman RJ, Smits B, Ankersmidt-Udy AE, Cottier K, Holloway H, Walden A, Al-Wahb M, Bohm E, Snell RG, Sutherland GT.

J Invest Dermatol. 2005 Jun;124(6):1170-6.

43.

TATA-binding protein in neurodegenerative disease.

van Roon-Mom WM, Reid SJ, Faull RL, Snell RG.

Neuroscience. 2005;133(4):863-72. Review.

PMID:
15916858
44.

TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.

Reid SJ, van Roon-Mom WM, Wood PC, Rees MI, Owen MJ, Faull RL, Dragunow M, Snell RG.

Brain Res Mol Brain Res. 2004 Jun 18;125(1-2):120-8.

PMID:
15193429
45.

Association of gephyrin and glycine receptors in the human brainstem and spinal cord: an immunohistochemical analysis.

Baer K, Waldvogel HJ, During MJ, Snell RG, Faull RL, Rees MI.

Neuroscience. 2003;122(3):773-84.

PMID:
14622920
46.

Molecular investigation of TBP allele length: a SCA17 cellular model and population study.

Reid SJ, Rees MI, van Roon-Mom WM, Jones AL, MacDonald ME, Sutherland G, During MJ, Faull RL, Owen MJ, Dragunow M, Snell RG.

Neurobiol Dis. 2003 Jun;13(1):37-45.

PMID:
12758065
47.

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.

Rees MI, Harvey K, Ward H, White JH, Evans L, Duguid IC, Hsu CC, Coleman SL, Miller J, Baer K, Waldvogel HJ, Gibbon F, Smart TG, Owen MJ, Harvey RJ, Snell RG.

J Biol Chem. 2003 Jul 4;278(27):24688-96. Epub 2003 Apr 8.

48.

Distribution of gephyrin in the human brain: an immunohistochemical analysis.

Waldvogel HJ, Baer K, Snell RG, During MJ, Faull RL, Rees MI.

Neuroscience. 2003;116(1):145-56.

PMID:
12535948
49.

Insoluble TATA-binding protein accumulation in Huntington's disease cortex.

van Roon-Mom WM, Reid SJ, Jones AL, MacDonald ME, Faull RL, Snell RG.

Brain Res Mol Brain Res. 2002 Dec 30;109(1-2):1-10.

PMID:
12531510
50.

Characterization of the DGAT1 gene in the New Zealand dairy population.

Spelman RJ, Ford CA, McElhinney P, Gregory GC, Snell RG.

J Dairy Sci. 2002 Dec;85(12):3514-7.

PMID:
12512625

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