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Select item 81472961.

L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria

Matthias Christen, Nils Janzen, Anne Fraser, Adrian C. Sewell, Vidhya Jagannathan, Julien Guevar, Tosso Leeb, Daniel Sanchez-Masian

Genes (Basel) 2021 May; 12(5): 682. Published online 2021 May 1. doi: 10.3390/genes12050682

PMCID:: PMC8147296

Abstract Article PDF–1.0M

Select item 77466012.

ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder

Mariella T. Simon, Shaya S. Eftekharian, Sacha Ferdinandusse, Sha Tang, Take Naseri, Muagututi'a Sefuiva Reupena, Stephen T. McGarvey, Ryan L. Minster, Daniel E. Weeks, The Samoan Obesity, Lifestyle, and Genetic Adaptations (OLaGA) Study Group, Daniel D. Nguyen, Sansan Lee, Katarzyna A. Ellsworth, Frédéric M. Vaz, David Dimmock, James Pitt, Jose E. Abdenur

Am J Med Genet A. 2021 Jan; 185(1): 157–167. Published online 2020 Oct 28. doi: 10.1002/ajmg.a.61936

PMCID:: PMC7746601

Abstract Article PDF–2.0M

Select item 63834323.

A Metabolomic Study on the Intervention of Traditional Chinese Medicine Qushi Huayu Decoction on Rat Model of Fatty Liver Induced by High-Fat Diet

Xiao-jun Gou, Shanshan Gao, Liang Chen, Qin Feng, Yi-yang Hu

Biomed Res Int. 2019; 2019: 5920485. Published online 2019 Feb 7. doi: 10.1155/2019/5920485

PMCID:: PMC6383432

Abstract Article PDF–3.0M

Select item 60371994.

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

David Coman, Lisenka E.L.M. Vissers, Lisa G. Riley, Michael P. Kwint, Roxanna Hauck, Janet Koster, Sinje Geuer, Sarah Hopkins, Barbra Hallinan, Larry Sweetman, Udo F.H. Engelke, T. Andrew Burrow, John Cardinal, James McGill, Anita Inwood, Christine Gurnsey, Hans R. Waterham, John Christodoulou, Ron A. Wevers, James Pitt

Am J Hum Genet. 2018 Jul 5; 103(1): 125–130. Published online 2018 Jun 14. doi: 10.1016/j.ajhg.2018.05.004

PMCID:: PMC6037199

Abstract Article PDF–862K

Select item 59472945.

Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

Patricia E. Fitzsimons, Charlotte L. Alston, Penelope E. Bonnen, Joanne Hughes, Ellen Crushell, Michael T. Geraghty, Martine Tetreault, Peter O'Reilly, Eilish Twomey, Yusra Sheikh, Richard Walsh, Hans R. Waterham, Sacha Ferdinandusse, Ronald J. A. Wanders, Robert W. Taylor, James J. Pitt, Philip D. Mayne

Am J Med Genet A. 2018 May; 176(5): 1115–1127. Published online 2018 Mar 25. doi: 10.1002/ajmg.a.38658

PMCID:: PMC5947294

Abstract Article PDF–1.0M

Select item 57904336.

The Effects of 2′-O-Methoxyethyl Oligonucleotides on Renal Function in Humans

Stanley T. Crooke, Brenda F. Baker, Nguyen C. Pham, Steven G. Hughes, T. Jesse Kwoh, Danlin Cai, Sotirios Tsimikas, Richard S. Geary, Sanjay Bhanot

Nucleic Acid Ther. 2018 Feb 1; 28(1): 10–22. Published online 2018 Feb 1. doi: 10.1089/nat.2017.0693

PMCID:: PMC5790433

Abstract Article PDF–2.6M

Select item 52532387.

Screen for MAOA Mutations in Target Human Groups

Deborah E. Schuback, Evan L. Mulligan, Katherine B. Sims, Elizabeth A. Tivol, Benjamin D. Greenberg, Shu-Fen Chang, Show-Lin Yang, Yi-Chien Mau, Chen-Yang Shen, Mei-Shang Ho, Nan-Hua Yang, Merlin G. Butler, Stephen Fink, Charles E. Schwartz, F. Berlin, Xandra O. Breakefield, Dennis L. Murphy, Yun-Pung Paul Hsu

Am J Med Genet. Author manuscript; available in PMC 2017 Jan 22.

Published in final edited form as: Am J Med Genet. 1999 Feb 5; 88(1): 25–28.

PMCID:: PMC5253238

Abstract Article PDF–303K

Select item 52411738.

The Effects of Ivacaftor on CF Fatty Acid Metabolism: An Analysis from the GOAL Study

Michael Glenn O’Connor, Adam Seegmiller

J Cyst Fibros. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: J Cyst Fibros. 2017 Jan; 16(1): 132–138. Published online 2016 Jul 26. doi: 10.1016/j.jcf.2016.07.006

PMCID:: PMC5241173

Article PDF–488K

Select item 47311939.

CYP24 inhibition as a therapeutic target in FGF23-mediated renal phosphate wasting disorders

Xiuying Bai, Dengshun Miao, Sophia Xiao, Dinghong Qiu, René St-Arnaud, Martin Petkovich, Ajay Gupta, David Goltzman, Andrew C. Karaplis

J Clin Invest. 2016 Feb 1; 126(2): 667–680. Published online 2016 Jan 19. doi: 10.1172/JCI81928

PMCID:: PMC4731193

Abstract Article PDF–3.3M

Select item 456313610.

Dietary Modulation of Gut Microbiota Contributes to Alleviation of Both Genetic and Simple Obesity in Children

Chenhong Zhang, Aihua Yin, Hongde Li, Ruirui Wang, Guojun Wu, Jian Shen, Menghui Zhang, Linghua Wang, Yaping Hou, Haimei Ouyang, Yan Zhang, Yinan Zheng, Jicheng Wang, Xiaofei Lv, Yulan Wang, Feng Zhang, Benhua Zeng, Wenxia Li, Feiyan Yan, Yufeng Zhao, Xiaoyan Pang, Xiaojun Zhang, Huaqing Fu, Feng Chen, Naisi Zhao, Bruce R. Hamaker, Laura C. Bridgewater, David Weinkove, Karine Clement, Joel Dore, Elaine Holmes, Huasheng Xiao, Guoping Zhao, Shengli Yang, Peer Bork, Jeremy K. Nicholson, Hong Wei, Huiru Tang, Xiaozhuang Zhang, Liping Zhao

EBioMedicine. 2015 Aug; 2(8): 968–984. Published online 2015 Jul 10. doi: 10.1016/j.ebiom.2015.07.007

PMCID:: PMC4563136

Abstract Article PDF–2.9M

Select item 387934511.

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 370250812.

A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern

Nicolas Gauthier, Jiang Wei Wu, Shu Pei Wang, Pierre Allard, Orval A. Mamer, Lawrence Sweetman, Ann B. Moser, Lisa Kratz, Fernando Alvarez, Yves Robitaille, François Lépine, Grant A. Mitchell

PLoS One. 2013; 8(7): e60581. Published online 2013 Jul 5. doi: 10.1371/journal.pone.0060581

PMCID:: PMC3702508

Abstract Article PDF–774K

Select item 352431013.

Potential metabolic mechanism of girls' central precocious puberty: a network analysis on urine metabonomics data

Linlin Yang, Kailin Tang, Ying Qi, Hao Ye, Wenlian Chen, Yongyu Zhang, Zhiwei Cao

BMC Syst Biol. 2012; 6(Suppl 3): S19. Published online 2012 Dec 17. doi: 10.1186/1752-0509-6-S3-S19

PMCID:: PMC3524310

Abstract Article PDF–2.4M

Select item 351659914.

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

Katharina Danhauser, Sven W. Sauer, Tobias B. Haack, Thomas Wieland, Christian Staufner, Elisabeth Graf, Johannes Zschocke, Tim M. Strom, Thorsten Traub, Jürgen G. Okun, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Stefan Kölker

Am J Hum Genet. 2012 Dec 7; 91(6): 1082–1087. doi: 10.1016/j.ajhg.2012.10.006

PMCID:: PMC3516599

Abstract Article PDF–495K

Select item 346833015.

De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: A genomics approach to personalized medicine

Ryan E. O’Leary, Jean C. Shih, Keith Hyland, Nancy Kramer, Y. Jane Tavyev Asher, John M. Graham, Jr.

Eur J Med Genet. Author manuscript; available in PMC 2012 Oct 10.

Published in final edited form as: Eur J Med Genet. 2012 May; 55(5): 349–353. Published online 2012 Feb 3. doi: 10.1016/j.ejmg.2012.01.007

PMCID:: PMC3468330

Abstract Article PDF–657K

Select item 173460416.

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

L. Potocki, D. Glaze, D. Tan, S. Park, C. Kashork, L. Shaffer, R. Reiter, J. Lupski

J Med Genet. 2000 Jun; 37(6): 428–433. doi: 10.1136/jmg.37.6.428

PMCID:: PMC1734604

Summary PDF–163K

Select item 157257617.

Improved diabetic syndrome in C57BL/KsJ-db/db mice by oral administration of the Na⁺-glucose cotransporter inhibitor T-1095

Kenji Arakawa, Tomomi Ishihara, Akira Oku, Masao Nawano, Kiichiro Ueta, Kazuyuki Kitamura, Mamoru Matsumoto, Akira Saito

Br J Pharmacol. 2001 Jan; 132(2): 578–586. doi: 10.1038/sj.bjp.0703829

PMCID:: PMC1572576

Abstract Article PDF–392K

Select item 123530218.

Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

Luisa Bonafé, Beat Thöny, Johann M. Penzien, Barbara Czarnecki, Nenad Blau

Am J Hum Genet. 2001 Aug; 69(2): 269–277. Published online 2001 Jul 6. doi: 10.1086/321970

PMCID:: PMC1235302

Abstract Article PDF–259K

Select item 123527219.

A Novel Syndrome Affecting Multiple Mitochondrial Functions, Located by Microcell-Mediated Transfer to Chromosome 2p14-2p13

Agnieszka Seyda, Robert F. Newbold, Thomas J. Hudson, Andrei Verner, Neviana MacKay, Susan Winter, Annette Feigenbaum, Suzann Malaney, Diego Gonzalez-Halphen, Andrew P. Cuthbert, Brian H. Robinson

Am J Hum Genet. 2001 Feb; 68(2): 386–396. Published online 2001 Jan 10. doi: 10.1086/318196

PMCID:: PMC1235272

Abstract Article PDF–488K

Select item 1464120.

Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1

Jennifer L. Aponte, Gary A. Sega, Loren J. Hauser, Madhu S. Dhar, Catherine M. Withrow, Donald A. Carpenter, Eugene M. Rinchik, Cymbeline T. Culiat, Dabney K. Johnson

Proc Natl Acad Sci U S A. 2001 Jan 16; 98(2): 641–645. doi: 10.1073/pnas.98.2.641

PMCID:: PMC14641

Abstract Article PDF–147K

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