PMC Articles for MedGen (Select 1841588) - PMC

Gareth G. Lavery, Agnieszka E. Zielinska, Laura L. Gathercole, Beverly Hughes, Nina Semjonous, Phillip Guest, Khalid Saqib, Mark Sherlock, Gary Reynolds, Stuart A. Morgan, Jeremy W. Tomlinson, Elizabeth A. Walker, Elizabeth H. Rabbitt, Paul M. Stewart

Endocrinology. 2012 Jul; 153(7): 3236–3248. Published online 2012 May 3. doi: 10.1210/en.2012-1019

PMCID:: PMC3475725

Abstract Article

Select item 38793457.

Metabolomics Reveals a Role for the Chromatin-Binding Protein HMGN5 in Glutathione Metabolism

Eric D. Ciappio, Kristopher W. Krausz, Mark Rochman, Takashi Furusawa, Jessica A. Bonzo, Lino Tessarollo, Frank J. Gonzalez, Michael Bustin

PLoS One. 2014; 9(1): e84583. Published online 2014 Jan 2. doi: 10.1371/journal.pone.0084583

PMCID:: PMC3879345

Abstract Article PDF–1.8M

Select item 53932818.

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

Emma S. Reid, Hywel Williams, Glenn Anderson, Malika Benatti, Kling Chong, Chela James, Louise Ocaka, GOSgene, Cheryl Hemingway, Daniel Little, Richard Brown, Alasdair Parker, Simon Holden, Emma Footitt, Shamima Rahman, Paul Gissen, Philippa B. Mills, Peter T. Clayton

J Inherit Metab Dis. 2017; 40(3): 385–394. Published online 2017 Mar 2. doi: 10.1007/s10545-017-0025-7

PMCID:: PMC5393281

Abstract Article PDF–1.3M

Select item 54521759.

Choline, Other Methyl-Donors and Epigenetics

Steven H. Zeisel

Nutrients. 2017 May; 9(5): 445. Published online 2017 Apr 29. doi: 10.3390/nu9050445

PMCID:: PMC5452175

Abstract Article PDF–223K

Select item 1140284210.

Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort

Sheng-Nan Wu, Hui-Shu E, Yue Yu, Shi-Ying Ling, Li-Li Liang, Wen-Juan Qiu, Hui-Wen Zhang, Rui-Xue Shuai, Hai-Yan Wei, Chi-Ju Yang, Peng Xu, Xi-Gui Chen, Hui Zou, Ji-Zhen Feng, Ting-Ting Niu, Hai-Li Hu, Kai-Chuang Zhang, De-Yun Lu, Zhu-Wen Gong, Xia Zhan, Wen-Jun Ji, Xue-Fan Gu, Yong-Xing Chen, Lian-Shu Han

World J Pediatr. 2024; 20(8): 848–858. Published online 2023 Dec 9. doi: 10.1007/s12519-023-00770-2

PMCID:: PMC11402842

Abstract Article PDF–723K

Select item 652384411.

Mining for Oxysterols in Cyp7b1^−/− Mouse Brain and Plasma: Relevance to Spastic Paraplegia Type 5

Anna Meljon, Peter J. Crick, Eylan Yutuc, Joyce L. Yau, Jonathan R. Seckl, Spyridon Theofilopoulos, Ernest Arenas, Yuqin Wang, William J. Griffiths

Biomolecules. 2019 Apr; 9(4): 149. Published online 2019 Apr 13. doi: 10.3390/biom9040149

PMCID:: PMC6523844

Abstract Article PDF–3.3M

Select item 662654312.

Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum

Gilles Kauffenstein, Gennady G. Yegutkin, Salim Khiati, Viola Pomozi, Olivier Le Saux, Georges Leftheriotis, Guy Lenaers, Daniel Henrion, Ludovic Martin

J Invest Dermatol. Author manuscript; available in PMC 2019 Jul 13.

Published in final edited form as: J Invest Dermatol. 2018 Aug; 138(8): 1862–1870. Published online 2018 Mar 6. doi: 10.1016/j.jid.2018.02.023

PMCID:: PMC6626543

Abstract Article PDF–1.3M

Select item 856463213.

FANCD2 limits acetaldehyde‐induced genomic instability during DNA replication in esophageal keratinocytes

Jasmine D. Peake, Chiaki Noguchi, Baicheng Lin, Amber Theriault, Margaret O'Connor, Shivani Sheth, Koji Tanaka, Hiroshi Nakagawa, Eishi Noguchi

Mol Oncol. 2021 Nov; 15(11): 3109–3124. Published online 2021 Aug 8. doi: 10.1002/1878-0261.13072

PMCID:: PMC8564632

Abstract Article PDF–2.1M

Select item 900515814.

Vitamin D metabolites in captivity? Should we measure free or total 25(OH)D to assess vitamin D status?

Daniel Bikle, Roger Bouillon, Ravi Thadhani, Inez Schoenmakers

J Steroid Biochem Mol Biol. Author manuscript; available in PMC 2022 Apr 12.

Published in final edited form as: J Steroid Biochem Mol Biol. 2017 Oct; 173: 105–116. Published online 2017 Jan 16. doi: 10.1016/j.jsbmb.2017.01.007

PMCID:: PMC9005158

Abstract Article PDF–664K

Select item 1047086615.

Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome

George G. Schweitzer, Grace L. Ditzenberger, Curtis C. Hughey, Brian N. Finck, Michael R. Martino, Christina A. Pacak, Barry J. Byrne, William Todd Cade

PLoS One. 2023; 18(8): e0290832. Published online 2023 Aug 31. doi: 10.1371/journal.pone.0290832

PMCID:: PMC10470866

Abstract Article PDF–1.3M

Select item 633882316.

Altered Hepatobiliary Disposition of Tolvaptan and Selected Tolvaptan Metabolites in a Rodent Model of Polycystic Kidney Disease

James J. Beaudoin, Jacqueline Bezençon, Yanguang Cao, Katsuhiko Mizuno, Sharin E. Roth, William J. Brock, Kim L. R. Brouwer

Drug Metab Dispos. 2019 Feb; 47(2): 155–163. Published online 2019 Feb. doi: 10.1124/dmd.118.083907

Correction in:: Drug Metab Dispos. 2019 Mar; 47(3): 328.

PMCID:: PMC6338823

Abstract Article PDF–1.3M

Select item 1010823217.

The humanised CYP2C19 transgenic mouse exhibits cerebellar atrophy and movement impairment reminiscent of ataxia

Filip Milosavljević, Irene Brusini, Andrea Atanasov, Marina Manojlović, Marija Vučić, Zorana Oreščanin‐Dušić, Jelena Brkljačić, Čedo Miljević, Aleksandra Nikolić‐Kokić, Duško Blagojević, Chunliang Wang, Peter Damberg, Vesna Pešić, Rachel F. Tyndale, Magnus Ingelman‐Sundberg, Marin M. Jukić

Neuropathol Appl Neurobiol. 2023 Feb; 49(1): e12867. Published online 2023 Jan 17. doi: 10.1111/nan.12867