PMC Links for Protein (Select 4507025) - PMC

Select item 60067401.

SLC4A4 compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case report

Shoko Horita, Enver Simsek, Tulay Simsek, Nilgun Yildirim, Hiroyuki Ishiura, Motonobu Nakamura, Nobuhiko Satoh, Atsushi Suzuki, Hiroyuki Tsukada, Tomohito Mizuno, George Seki, Shoji Tsuji, Masaomi Nangaku

BMC Med Genet. 2018; 19: 103. Published online 2018 Jun 18. doi: 10.1186/s12881-018-0612-y

PMCID:: PMC6006740

Abstract Article PDF–1.2M

Select item 58344912.

CryoEM structure of the human SLC4A4 sodium-coupled acid-base transporter NBCe1

Kevin W. Huynh, Jiansen Jiang, Natalia Abuladze, Kirill Tsirulnikov, Liyo Kao, Xuesi Shao, Debra Newman, Rustam Azimov, Alexander Pushkin, Z. Hong Zhou, Ira Kurtz

Nat Commun. 2018; 9: 900. Published online 2018 Mar 2. doi: 10.1038/s41467-018-03271-3

PMCID:: PMC5834491

Abstract Article PDF–1.6M

Select item 55341183.

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation

Nisha Patel, Arif O. Khan, Maher Al-Saif, Walid N. Moghrabi, Balsam M. AlMaarik, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Tarfa Alshidi, Eman Alobeid, Rana A. Alomar, Saad Al-Harbi, Mohamed Abouelhoda, Khalid S. A. Khabar, Fowzan S. Alkuraya

Genome Biol. 2017; 18: 144. Published online 2017 Jul 28. doi: 10.1186/s13059-017-1274-3

PMCID:: PMC5534118

Abstract Article PDF–2.3M

Select item 37681044.

The Divergence, Actions, Roles, and Relatives of Sodium-Coupled Bicarbonate Transporters

Mark D. Parker, Walter F. Boron

Physiol Rev. 2013 Apr; 93(2): 803–959. doi: 10.1152/physrev.00023.2012

PMCID:: PMC3768104

Abstract Article

Select item 35733185.

HCO₃⁻-independent conductance with a mutant Na⁺/HCO₃⁻ cotransporter (SLC4A4) in a case of proximal renal tubular acidosis with hypokalaemic paralysis

Mark D Parker, Xue Qin, Rosalind C Williamson, Ashley M Toye, Walter F Boron

J Physiol. 2012 Apr 15; 590(Pt 8): 2009–2034. Published online 2012 Feb 13. doi: 10.1113/jphysiol.2011.224733

PMCID:: PMC3573318

Abstract Article PDF–1.8M

Select item 28330586.

Evaluating the efficacy of tryptophan fluorescence and absorbance as a selection tool for identifying protein crystals

Harindarpal S. Gill

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2010 Mar 1; 66(Pt 3): 364–372. Published online 2010 Feb 27. doi: 10.1107/S1744309110002022

PMCID:: PMC2833058

Abstract Article PDF–835K

Select item 28224947.

The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes

Andrew K. Stewart, David H. Vandorpe, John F. Heneghan, Fouad Chebib, Kathleen Stolpe, Arash Akhavein, E. Jennifer Edelman, Yelena Maksimova, Patrick G. Gallagher, Seth L. Alper

Am J Physiol Cell Physiol. 2010 Feb; 298(2): C283–C297. Published online 2009 Nov 11. doi: 10.1152/ajpcell.00444.2009

PMCID:: PMC2822494

Abstract Article

Select item 26830138.

Modular structure of sodium-coupled bicarbonate transporters

Walter F. Boron, Liming Chen, Mark D. Parker

J Exp Biol. 2009 Jun 1; 212(11): 1697–1706. Published online 2009 May 15. doi: 10.1242/jeb.028563

PMCID:: PMC2683013

Abstract Article

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