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Items: 15

Select item 77466011.

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 70425092.

Norvaline Reduces Blood Pressure and Induces Diuresis in Rats with Inherited Stress-Induced Arterial Hypertension

Michael A. Gilinsky, Yulia K. Polityko, Arkady L. Markel, Tatyana V. Latysheva, Abraham O. Samson, Baruh Polis, Sergey E. Naumenko

Biomed Res Int. 2020; 2020: 4935386. Published online 2020 Feb 12. doi: 10.1155/2020/4935386

PMCID:: PMC7042509

Abstract Article PDF–491K

Select item 69961753.

Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature

Hua Yang, Dan Yu

BMC Pediatr. 2020; 20: 50. Published online 2020 Feb 3. doi: 10.1186/s12887-020-1947-z

PMCID:: PMC6996175

Abstract Article PDF–998K

Select item 64431934.

A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh

Brandon L. Pierce, Lin Tong, Samantha Dean, Maria Argos, Farzana Jasmine, Muhammad Rakibuz-Zaman, Golam Sarwar, Md. Tariqul Islam, Hasan Shahriar, Tariqul Islam, Mahfuzar Rahman, Md. Yunus, Vincent J. Lynch, Devin Oglesbee, Joseph H. Graziano, Muhammad G. Kibriya, Mary V. Gamble, Habibul Ahsan

PLoS Genet. 2019 Mar; 15(3): e1007984. Published online 2019 Mar 20. doi: 10.1371/journal.pgen.1007984

Correction in:: PLoS Genet. 2019 May; 15(5): e1008172.

PMCID:: PMC6443193

Abstract Article PDF–1.7M

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 55934726.

Advanced glycation end products induce the apoptosis of and inflammation in mouse podocytes through CXCL9-mediated JAK2/STAT3 pathway activation

Jing Yu, Hao Wu, Zi-Yu Liu, Qi Zhu, Chang Shan, Ke-Qin Zhang

Int J Mol Med. 2017 Oct; 40(4): 1185–1193. Published online 2017 Aug 11. doi: 10.3892/ijmm.2017.3098

PMCID:: PMC5593472

Abstract Article PDF–1.5M

Select item 39092237.

Brown Norway Chromosome 1 Congenic Reduces Symptoms of Renal Disease in Fatty Zucker Rats

Craig H. Warden, Carolyn Slupsky, Stephen M. Griffey, Ahmed Bettaieb, Esther Min, Anh Le, Janis S. Fisler, Susan Hansen, Fawaz Haj, Judith S. Stern

PLoS One. 2014; 9(1): e87770. Published online 2014 Jan 31. doi: 10.1371/journal.pone.0087770

PMCID:: PMC3909223

Abstract Article PDF–875K

Select item 35594818.

Adenylyl Cyclase VI Mediates Vasopressin-Stimulated ENaC Activity

Karl P. Roos, Vladislav Bugaj, Elena Mironova, James D. Stockand, Nirupama Ramkumar, Sara Rees, Donald E. Kohan

J Am Soc Nephrol. 2013 Jan 31; 24(2): 218–227. Published online 2012 Dec 20. doi: 10.1681/ASN.2012050449

PMCID:: PMC3559481

Abstract Article

Select item 33484299.

Combination Direct Renin Inhibition with Angiotensin Type 1 Receptor Blockade improves Aldosterone but does not improve Kidney Injury in the Transgenic Ren2 rat

Adam Whaley-Connell, Javad Habibi, Ravi Nistala, Melvin R Hayden, Lakshmi Pulakat, Catherine Sinak, Bonnie Locher, Carlos M Ferrario, James R Sowers

Regul Pept. Author manuscript; available in PMC 2013 Jun 10.

Published in final edited form as: Regul Pept. 2012 Jun 10; 176(1-3): 36–44. Published online 2012 Mar 29. doi: 10.1016/j.regpep.2012.03.002

PMCID:: PMC3348429

Abstract Article PDF–1.7M

Select item 324374910.

Formation of 1,2:3,4-Diepoxybutane-Specific Hemoglobin Adducts in 1,3-Butadiene Exposed Workers

Gunnar Boysen, Nadia I. Georgieva, Narisa K. Bordeerat, Radim J. Šram, Pamela Vacek, Richard J. Albertini, James A. Swenberg

Toxicol Sci. 2012 Jan; 125(1): 30–40. Published online 2011 Oct 14. doi: 10.1093/toxsci/kfr272

PMCID:: PMC3243749

Abstract Article PDF–498K

Select item 268137211.

The A563T variation of the renal epithelial calcium channel TRPV5 among African Americans enhances calcium influx

Tao Na, Wei Zhang, Yi Jiang, Youyou Liang, He-Ping Ma, David G. Warnock, Ji-Bin Peng

Am J Physiol Renal Physiol. 2009 May; 296(5): F1042–F1051. Published online 2009 Mar 4. doi: 10.1152/ajprenal.90771.2008

PMCID:: PMC2681372

Abstract Article

Select item 225853912.

E240V Substitution Increases Catalytic Efficiency toward Ceftazidime in a New Natural TEM-Type Extended-Spectrum β-Lactamase, TEM-149, from Enterobacter aerogenes and Serratia marcescens Clinical Isolates

Mariagrazia Perilli, Giuseppe Celenza, Francesca De Santis, Cristina Pellegrini, Chiara Forcella, Gian Maria Rossolini, Stefania Stefani, Gianfranco Amicosante

Antimicrob Agents Chemother. 2008 Mar; 52(3): 915–919. Published online 2007 Dec 26. doi: 10.1128/AAC.01028-07

PMCID:: PMC2258539

Abstract Article PDF–111K

Select item 138028413.

Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism

Jörn Oliver Sass, Verena Mohr, Heike Olbrich, Udo Engelke, Judit Horvath, Manfred Fliegauf, Niki Tomas Loges, Susanne Schweitzer-Krantz, Ralf Moebus, Polly Weiler, Andreas Kispert, Andrea Superti-Furga, Ron A. Wevers, Heymut Omran

Am J Hum Genet. 2006 Mar; 78(3): 401–409. Published online 2006 Jan 18. doi: 10.1086/500563