Rumsby相关文献与解析，生知库 | 链接生命科学的每一步

Functional analysis of amino acid substitutions within human AGT1 in a cell-based platform to support the diagnosis of primary hyperoxaluria type 1.

在基于细胞的平台上对人类 AGT1 中的氨基酸替换进行功能分析，以支持原发性高草酸尿症 1 型的诊断

期刊:Journal of Biological Chemistry

影响因子:3.9

doi:10.1016/j.jbc.2025.110494

Gatticchi Leonardo, Bellezza Ilaria, Rumsby Gill, Glover Michelle, Cellini Barbara

SMART Stone Multidisciplinary Team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway

SMART Stone 多学科团队 (MDT) 和患者护理：成人高危肾结石患者诊疗路径建议

期刊:World Journal of Urology

影响因子:2.9

doi:10.1007/s00345-025-05602-8

Somani, Bhaskar; Emiliani, Esteban; Knoll, Thomas; Mandrile, Giorgia; Rumsby, Gill; Acquaviva, Cecile; Bhojani, Naeem; Bin Hamri, Saeed; Bres-Niewada, Ewa; Davis, Niall F; Fuster, Daniel G; Garrelfs, Sander F; Gauhar, Vineet; Hamamoto, Shuzo; Juliebø-Jones, Patrick; Leporati, Marta; Letavernier, Emmanuel; Takayama, Tatsuya; Tzelves, Lazaros; Yuen, Steffi Kar Kei; Ferraro, Pietro Manuel

Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway

更正：SMART 结石多学科团队 (MDT) 和患者护理：成人高危肾结石患者路径建议

期刊:World Journal of Urology

影响因子:2.9

doi:10.1007/s00345-025-06059-5

Genetic assessment in primary hyperoxaluria: why it matters

原发性高草酸尿症的基因评估：为什么它如此重要

期刊:Pediatric Nephrology

影响因子:2.6

doi:10.1007/s00467-022-05613-2

Mandrile, Giorgia; Beck, Bodo; Acquaviva, Cecile; Rumsby, Gill; Deesker, Lisa; Garrelfs, Sander; Gupta, Asheeta; Bacchetta, Justine; Groothoff, Jaap

发表日期：2023

文献求助收藏

End Points for Clinical Trials in Primary Hyperoxaluria

原发性高草酸尿症临床试验的终点

期刊:Clinical Journal of the American Society of Nephrology

影响因子:7.1

doi:10.2215/CJN.13821119

Milliner, Dawn S; McGregor, Tracy L; Thompson, Aliza; Dehmel, Bastian; Knight, John; Rosskamp, Ralf; Blank, Melanie; Yang, Sixun; Fargue, Sonia; Rumsby, Gill; Groothoff, Jaap; Allain, Meaghan; West, Melissa; Hollander, Kim; Lowther, W Todd; Lieske, John C

发表日期：2020

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Posaconazole-Induced Hypertension Masquerading as Congenital Adrenal Hyperplasia in a Child with Cystic Fibrosis

泊沙康唑诱发的高血压在一名患有囊性纤维化的儿童中伪装成先天性肾上腺皮质增生症

期刊:Case Reports in Medicine

影响因子:0.7

doi:10.1155/2020/8153012

Agarwal, Neha; Apperley, Louise; Taylor, Norman F; Taylor, David R; Ghataore, Lea; Rumsby, Ellen; Treslove, Catherine; Holt, Richard; Thursfield, Rebecca; Senniappan, Senthil

Phospholipase D2 in prostate cancer: protein expression changes with Gleason score

前列腺癌中的磷脂酶 D2：蛋白质表达随格里森评分而变化

期刊:British Journal of Cancer

影响因子:6.4

doi:10.1038/s41416-019-0610-7

Amanda R Noble, Karen Hogg, Rakesh Suman, Daniel M Berney, Sylvain Bourgoin, Norman J Maitland, Martin G Rumsby

The putative tumour suppressor protein Latexin is secreted by prostate luminal cells and is downregulated in malignancy

假定的肿瘤抑制蛋白 Latexin 由前列腺腔细胞分泌，在恶性肿瘤中下调

期刊:Scientific Reports

影响因子:3.8

doi:10.1038/s41598-019-41379-8

Robert I Seed, Alberto J Taurozzi, Daniel J Wilcock, Giovanna Nappo, Holger H H Erb, Martin L Read, Mark Gurney, Leanne K Archer, Saburo Ito, Martin G Rumsby, John L Petrie, Aled Clayton, Norman J Maitland, Anne T Collins

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD

下一代测序揭示了 46,XY DSD 成人患者的新型遗传变异（SRY、DMRT1、NR5A1、DHH、DHX37）

期刊:Journal of the Endocrine Society

影响因子:3

doi:10.1210/js.2019-00306

Federica Buonocore, Oliver Clifford-Mobley, Tom F J King, Niccolò Striglioni, Elim Man, Jenifer P Suntharalingham, Ignacio Del Valle, Lin Lin, Carlos F Lagos, Gill Rumsby, Gerard S Conway, John C Achermann

Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported

全球原发性高草酸尿症的遗传患病率估计值高于先前报道的水平。

Functional analysis of amino acid substitutions within human AGT1 in a cell-based platform to support the diagnosis of primary hyperoxaluria type 1.

在基于细胞的平台上对人类 AGT1 中的氨基酸替换进行功能分析，以支持原发性高草酸尿症 1 型的诊断

SMART Stone Multidisciplinary Team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway

SMART Stone 多学科团队 (MDT) 和患者护理：成人高危肾结石患者诊疗路径建议

Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway

更正：SMART 结石多学科团队 (MDT) 和患者护理：成人高危肾结石患者路径建议

Genetic assessment in primary hyperoxaluria: why it matters

原发性高草酸尿症的基因评估：为什么它如此重要

End Points for Clinical Trials in Primary Hyperoxaluria

原发性高草酸尿症临床试验的终点

Posaconazole-Induced Hypertension Masquerading as Congenital Adrenal Hyperplasia in a Child with Cystic Fibrosis

泊沙康唑诱发的高血压在一名患有囊性纤维化的儿童中伪装成先天性肾上腺皮质增生症

Phospholipase D2 in prostate cancer: protein expression changes with Gleason score

前列腺癌中的磷脂酶 D2：蛋白质表达随格里森评分而变化

The putative tumour suppressor protein Latexin is secreted by prostate luminal cells and is downregulated in malignancy

假定的肿瘤抑制蛋白 Latexin 由前列腺腔细胞分泌，在恶性肿瘤中下调

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD

下一代测序揭示了 46,XY DSD 成人患者的新型遗传变异（SRY、DMRT1、NR5A1、DHH、DHX37）