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Showing 145 to 155 of 155 entries
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DisCVR: Rapid viral diagnosis from high-throughput sequencing data.

Virus evolution

Maabar M, Davison AJ, Vučak M, Thorburn F, Murcia PR, Gunson R, Palmarini M, Hughes J.
PMID: 31528358
Virus Evol. 2019 Aug 26;5(2):vez033. doi: 10.1093/ve/vez033. eCollection 2019 Jul.

High-throughput sequencing (HTS) enables most pathogens in a clinical sample to be detected from a single analysis, thereby providing novel opportunities for diagnosis, surveillance, and epidemiology. However, this powerful technology is difficult to apply in diagnostic laboratories because of...

Correction: Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome.

eLife

Kang Y, Anderson AJ, Jackson TD, Palmer CS, De Souza DP, Fujihara KM, Stait T, Frazier AE, Clemons NJ, Tull D, Thorburn DR, McConville MJ, Ryan MT, Stroud DA, Stojanovski D.
PMID: 32186514
Elife. 2020 Mar 18;9. doi: 10.7554/eLife.56968.

No abstract available.

A framework for analysing nitrification inhibition: A case study on 3,4-dimethylpyrazole phosphate (DMPP).

The Science of the total environment

Vilas MP, Verburg K, Thorburn PJ, Probert ME, Bonnett GD.
PMID: 30978546
Sci Total Environ. 2019 Jul 01;672:846-854. doi: 10.1016/j.scitotenv.2019.03.462. Epub 2019 Apr 05.

Nitrification inhibitors show great potential to reduce nitrogen losses from agricultural systems and to improve nitrogen use efficiency. The most recently developed nitrification inhibitor 3,4-dimethylpyrazole phosphate (DMPP) is gaining popularity due to its benefits relative to other compounds. However,...

Adult liver transplantation: A UK clinical guideline - part 1: pre-operation.

Frontline gastroenterology

Millson C, Considine A, Cramp ME, Holt A, Hubscher S, Hutchinson J, Jones K, Leithead J, Masson S, Menon K, Mirza D, Neuberger J, Prasad R, Pratt A, Prentice W, Shepherd L, Simpson K, Thorburn D, Westbrook R, Tripathi D.
PMID: 32879721
Frontline Gastroenterol. 2020 Feb 25;11(5):375-384. doi: 10.1136/flgastro-2019-101215. eCollection 2020.

Liver transplantation is a highly successful treatment for all types of liver failure, some non-liver failure indications and liver cancer. Most referrals come from secondary care. This first part of a two-part guideline outlines who to refer, and how...

A Systems Modeling Approach to Forecast Corn Economic Optimum Nitrogen Rate.

Frontiers in plant science

Puntel LA, Sawyer JE, Barker DW, Thorburn PJ, Castellano MJ, Moore KJ, VanLoocke A, Heaton EA, Archontoulis SV.
PMID: 29706974
Front Plant Sci. 2018 Apr 13;9:436. doi: 10.3389/fpls.2018.00436. eCollection 2018.

Historically crop models have been used to evaluate crop yield responses to nitrogen (N) rates after harvest when it is too late for the farmers to make in-season adjustments. We hypothesize that the use of a crop model as...

Prioritizing Crop Management to Increase Nitrogen Use Efficiency in Australian Sugarcane Crops.

Frontiers in plant science

Thorburn PJ, Biggs JS, Palmer J, Meier EA, Verburg K, Skocaj DM.
PMID: 28928756
Front Plant Sci. 2017 Sep 05;8:1504. doi: 10.3389/fpls.2017.01504. eCollection 2017.

Sugarcane production relies on the application of large amounts of nitrogen (N) fertilizer. However, application of N in excess of crop needs can lead to loss of N to the environment, which can negatively impact ecosystems. This is of...

Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

JIMD reports

Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karnebeek CD, Thorburn DR, Rodenburg RJ, Christodoulou J.
PMID: 29076057
JIMD Rep. 2017;33:111. doi: 10.1007/8904_2017_588.

No abstract available.

Guideline review: British Society of Gastroenterology/UK-PSC guidelines for the diagnosis and management of primary sclerosing cholangitis.

Frontline gastroenterology

Nicoletti A, Maurice JB, Thorburn D.
PMID: 33456743
Frontline Gastroenterol. 2020 Mar 02;12(1):62-66. doi: 10.1136/flgastro-2019-101343. eCollection 2021.

New British Society of Gastroenterology/UK-PSC guidelines have recently discussed the current state-of-the-art on primary sclerosing cholangitis and outlined key elements for the management of this disease. The current lack of effective pharmacological treatments to prevent progression of liver fibrosis...

Open challenges in the management of autoimmune hepatitis.

Minerva gastroenterologica e dietologica

Gerussi A, Halliday N, Carbone M, Invernizzi P, Thorburn D.
PMID: 33267568
Minerva Gastroenterol Dietol. 2020 Dec 03; doi: 10.23736/S1121-421X.20.02805-6. Epub 2020 Dec 03.

Autoimmune Hepatitis (AIH) is a rare autoimmune disease of the liver with many open questions as regards its aetiopathogenesis, natural history and clinical management. The classical picture of AIH is chronic hepatitis with fluctuating elevation of serum transaminases and...

A systematic search and review of the discrimination in health care measure, and its adaptations.

Patient education and counseling

Thorburn S, Lindly OJ.
PMID: 34688522
Patient Educ Couns. 2021 Oct 08; doi: 10.1016/j.pec.2021.10.008. Epub 2021 Oct 08.

BACKGROUND: Discrimination occurs in health care settings contributing to health inequities. Yet guidance on how best to measure discrimination in health care is still limited.OBJECTIVES: We sought to (1) identify and describe the characteristics of published studies that used...

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Genetics in medicine : official journal of the American College of Medical Genetics

Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K.
PMID: 34400813
Genet Med. 2021 Dec;23(12):2415-2425. doi: 10.1038/s41436-021-01296-6. Epub 2021 Aug 16.

PURPOSE: Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families...

Showing 145 to 155 of 155 entries