PMC Articles for MedGen (Select 462555) - PMC

Select item 30357071.

Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

Siddharth Banka, Henk J. Blom, John Walter, Majid Aziz, Jill Urquhart, Christopher M. Clouthier, Gillian I. Rice, Arjan P.M. de Brouwer, Emma Hilton, Grace Vassallo, Andrew Will, Desirée E.C. Smith, Yvo M. Smulders, Ron A. Wevers, Robert Steinfeld, Simon Heales, Yanick J. Crow, Joelle N. Pelletier, Simon Jones, William G. Newman

Am J Hum Genet. 2011 Feb 11; 88(2): 216–225. doi: 10.1016/j.ajhg.2011.01.004

PMCID:: PMC3035707

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Select item 30357062.

Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

Holger Cario, Desirée E.C. Smith, Henk Blom, Nenad Blau, Harald Bode, Karlheinz Holzmann, Ulrich Pannicke, Karl-Peter Hopfner, Eva-Maria Rump, Zuleya Ayric, Elisabeth Kohne, Klaus-Michael Debatin, Yvo Smulders, Klaus Schwarz

Am J Hum Genet. 2011 Feb 11; 88(2): 226–231. doi: 10.1016/j.ajhg.2011.01.007

PMCID:: PMC3035706

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Select item 64511723.

Knockout of dihydrofolate reductase in mice induces hypertension and abdominal aortic aneurysm via mitochondrial dysfunction

Qiang Li, Ji Youn Youn, Kin Lung Siu, Priya Murugesan, Yixuan Zhang, Hua Cai

Redox Biol. 2019 Jun; 24: 101185. Published online 2019 Mar 29. doi: 10.1016/j.redox.2019.101185

PMCID:: PMC6451172

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Select item 51336684.

NOX isoforms in the development of abdominal aortic aneurysm

Kin Lung Siu, Qiang Li, Yixuan Zhang, Jun Guo, Ji Youn Youn, Jie Du, Hua Cai

Redox Biol. 2017 Apr; 11: 118–125. Published online 2016 Nov 19. doi: 10.1016/j.redox.2016.11.002

PMCID:: PMC5133668

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Select item 3685305.

Expression and amplification of engineered mouse dihydrofolate reductase minigenes.

G F Crouse, R N McEwan, M L Pearson

Mol Cell Biol. 1983 Feb; 3(2): 257–266. doi: 10.1128/mcb.3.2.257

PMCID:: PMC368530

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Select item 2112466.

Construction of a dihydrofolate reductase-deficient mutant of Escherichia coli by gene replacement.

E E Howell, P G Foster, L M Foster

J Bacteriol. 1988 Jul; 170(7): 3040–3045. doi: 10.1128/jb.170.7.3040-3045.1988

PMCID:: PMC211246

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Select item 898077.

Identification of Cryptosporidium parvum Dihydrofolate Reductase Inhibitors by Complementation in Saccharomyces cerevisiae

Victoria Hertle Brophy, John Vasquez, Richard G. Nelson, John R. Forney, Andre Rosowsky, Carol Hopkins Sibley

Antimicrob Agents Chemother. 2000 Apr; 44(4): 1019–1028. doi: 10.1128/aac.44.4.1019-1028.2000

PMCID:: PMC89807

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Select item 50941018.

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

Thomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, Gabriella Horvath, Roser Pons, Eduardo Lopez-Laso, Joaquín A. Fernández-Ramos, Tomas Honzik, Toni Pearson, Jennifer Friedman, Sabine Scholl-Bürgi, Tessa Wassenberg, Sabine Jung-Klawitter, Oya Kuseyri, Kathrin Jeltsch, Manju A. Kurian, Àngels Garcia-Cazorla, on behalf of the International Working Group on Neurotransmitter related disorders (iNTD)

Mol Genet Metab Rep. 2016 Dec; 9: 61–66. Published online 2016 Oct 20. doi: 10.1016/j.ymgmr.2016.09.006

PMCID:: PMC5094101

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Select item 42992009.

Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis

Martha S. Field, Elena Kamynina, David Watkins, David S. Rosenblatt, Patrick J. Stover

Proc Natl Acad Sci U S A. 2015 Jan 13; 112(2): 400–405. Published online 2014 Dec 29. doi: 10.1073/pnas.1414555112

PMCID:: PMC4299200

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