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Items: 1 to 20 of 47

1.
3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis
Ashley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, Won‐Tae Kim, Maina P. Kava, Avihu Boneh, David Coman, Adviye Ayper Tolun, Kaustuv Bhattacharya
JIMD Rep. 2022 Nov; 63(6): 568–574. Published online 2022 Sep 14. doi: 10.1002/jmd2.12332
PMCID:
PMC9626669
AbstractArticlePDF–847K
2.
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature
Francesca Nardecchia, Anna Caciotti, Teresa Giovanniello, Sabrina De Leo, Lorenzo Ferri, Serena Galosi, Silvia Santagata, Barbara Torres, Laura Bernardini, Claudia Carducci, Amelia Morrone, Vincenzo Leuzzi
Int J Mol Sci. 2022 Apr; 23(8): 4422. Published online 2022 Apr 16. doi: 10.3390/ijms23084422
PMCID:
PMC9029672
AbstractArticlePDF–1.4M
3.
Acute Encephalopathic Presentation of 3-Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene
Sai Chandar Dudipala, Prashanthi M, Krishna Chaithanya B, Laxman Kumar Chenalla
Cureus. 2020 Dec; 12(12): e11951. Published online 2020 Dec 7. doi: 10.7759/cureus.11951
PMCID:
PMC7785470
AbstractArticlePDF–82K
4.
Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation
Neli Bizjak, Mojca Zerjav Tansek, Magdalena Avbelj Stefanija, Barbka Repic Lampret, Ajda Mezek, Ana Drole Torkar, Tadej Battelino, Urh Groselj
Mol Genet Metab Rep. 2020 Dec; 25: 100691. Published online 2020 Dec 2. doi: 10.1016/j.ymgmr.2020.100691
PMCID:
PMC7718479
AbstractArticlePDF–497K
5.
3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH
Lodewijk IJlst, Ference J. Loupatty, Jos P. N. Ruiter, Marinus Duran, Willy Lehnert, Ronald J. A. Wanders
Am J Hum Genet. 2002 Dec; 71(6): 1463–1466. Published online 2002 Nov 14. doi: 10.1086/344712
Correction in:
Am J Hum Genet. 2003 Sep; 73(3): 709.
PMCID:
PMC378594
AbstractArticlePDF–163K
6.
Screening and Genetic Network Analysis of Genes Involved in Freezing and Thawing Resistance in DaMDHAR—Expressing Saccharomyces cerevisiae Using Gene Expression Profiling
Il-Sup Kim, Woong Choi, Jonghyeon Son, Jun Hyuck Lee, Hyoungseok Lee, Jungeun Lee, Seung Chul Shin, Han-Woo Kim
Genes (Basel) 2021 Feb; 12(2): 219. Published online 2021 Feb 3. doi: 10.3390/genes12020219
PMCID:
PMC7913288
AbstractArticlePDF–4.4M
7.
In silico characterisation of stand-alone response regulators of Streptococcus pyogenes
Sean J. Buckley, Mark R. Davies, David J. McMillan
PLoS One. 2020; 15(10): e0240834. Published online 2020 Oct 19. doi: 10.1371/journal.pone.0240834
PMCID:
PMC7571705
AbstractArticlePDF–5.2M
8.
The Zinc Cluster Protein Sut1 Contributes to Filamentation in Saccharomyces cerevisiae
Helen A. Foster, Mingfei Cui, Angel Naveenathayalan, Heike Unden, Ralf Schwanbeck, Thomas Höfken
Eukaryot Cell. 2013 Feb; 12(2): 244–253. doi: 10.1128/EC.00214-12
PMCID:
PMC3571311
AbstractArticlePDF–1.3M
9.
Regulators of pseudohyphal differentiation in Saccharomyces cerevisiae identified through multicopy suppressor analysis in ammonium permease mutant strains.
M C Lorenz, J Heitman
Genetics. 1998 Dec; 150(4): 1443–1457. doi: 10.1093/genetics/150.4.1443
PMCID:
PMC1460428
SummaryPDF–380K
10.
Target hub proteins serve as master regulators of development in yeast
Anthony R. Borneman, Justine A. Leigh-Bell, Haiyuan Yu, Paul Bertone, Mark Gerstein, Michael Snyder
Genes Dev. 2006 Feb 15; 20(4): 435–448. doi: 10.1101/gad.1389306
PMCID:
PMC1369046
AbstractArticlePDF–1.2M
11.
Domains Required for Transcriptional Activation Show Conservation in the Mga Family of Virulence Gene Regulators
Cheryl M. Vahling, Kevin S. McIver
J Bacteriol. 2006 Feb; 188(3): 863–873. doi: 10.1128/JB.188.3.863-873.2006
PMCID:
PMC1347361
AbstractArticlePDF–372K
12.
Genomewide Identification of Sko1 Target Promoters Reveals a Regulatory Network That Operates in Response to Osmotic Stress in Saccharomyces cerevisiae
Markus Proft, Francis D. Gibbons, Matthew Copeland, Frederick P. Roth, Kevin Struhl
Eukaryot Cell. 2005 Aug; 4(8): 1343–1352. doi: 10.1128/EC.4.8.1343-1352.2005
PMCID:
PMC1214534
AbstractArticlePDF–202K
13.
Attenuated Expression of the mga Virulence Regulon in an M Serotype 50 Mouse-Virulent Group A Streptococcal Strain
Der-Li Yung, Kevin S. McIver, June R. Scott, Susan K. Hollingshead
Infect Immun. 1999 Dec; 67(12): 6691–6694. doi: 10.1128/iai.67.12.6691-6694.1999
PMCID:
PMC97085
AbstractArticlePDF–214K
14.
Effects of Different G-Protein α-Subunits on Growth, Development and Secondary Metabolism of Monascus ruber M7
Ming Lei, Jiao Liu, Yang Fang, Yanchun Shao, Li Li, Jae-Hyuk Yu, Fusheng Chen
Front Microbiol. 2019; 10: 1555. Published online 2019 Jul 9. doi: 10.3389/fmicb.2019.01555
PMCID:
PMC6632705
AbstractArticlePDF–7.0M
15.
Identification of an iron-responsive subtype in two children diagnosed with relapsing-remitting multiple sclerosis using whole exome sequencing
Susan J. van Rensburg, Armand V. Peeters, Ronald van Toorn, Johan Schoeman, Kelebogile E. Moremi, Carel J. van Heerden, Maritha J. Kotze
Mol Genet Metab Rep. 2019 Jun; 19: 100465. Published online 2019 Mar 23. doi: 10.1016/j.ymgmr.2019.100465
PMCID:
PMC6434495
AbstractArticlePDF–506K
16.
Analysis of Ki67, HMGA1, MDM2, and RB expression in nonfunctioning pituitary adenomas
Xiaohui Yao, Hua Gao, Chuzhong Li, Lijuan Wu, Jiwei Bai, Jichao Wang, Yangfang Li, Yazhuo Zhang
J Neurooncol. 2017; 132(2): 199–206. Published online 2017 Mar 2. doi: 10.1007/s11060-016-2365-9
PMCID:
PMC5378727
AbstractArticlePDF–1.3M
17.
3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy
Craig D. Spergel, Mariya Milko, Christopher Edwards, Jeff P. Steinhoff
Cardiol Res. 2014 Oct; 5(5): 158–162. Published online 2014 Oct 6. doi: 10.14740/cr359w
PMCID:
PMC5358122
AbstractArticlePDF–685K
18.
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect
Saskia B. Wortmann, Leo A. J. Kluijtmans, Silvia Sequeira, Ron A. Wevers, Eva Morava
JIMD Rep. 2014; 16: 1–6. Published online 2014 Apr 23. doi: 10.1007/8904_2014_309
PMCID:
PMC4221300
AbstractArticlePDF–122K
19.
The 3-methylglutaconic acidurias: what’s new?
Saskia B. Wortmann, Leo A. Kluijtmans, Udo F. H. Engelke, Ron A. Wevers, Eva Morava
J Inherit Metab Dis. 2012; 35(1): 13–22. Published online 2010 Sep 30. doi: 10.1007/s10545-010-9210-7
PMCID:
PMC3249181
AbstractArticlePDF–336K
20.
Genetic organization of an M protein trans-acting positive regulator (Mga) orthologue and its adjacent M-like protein (SCM) alleles in Streptococcus canis
Takashi Takahashi, Takahiro Maeda, Haruno Yoshida, Mieko Goto, Yuzo Tsuyuki, Jae-Seok Kim
BMC Res Notes. 2024; 17: 138. Published online 2024 May 15. doi: 10.1186/s13104-024-06795-8
PMCID:
PMC11097546
AbstractArticlePDF–1.7M

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