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Select item 108029511.

Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells

Doug D. Chung, Angela C. Chen, Charlene H. Choo, Wenlin Zhang, Dominic Williams, Christopher G. Griffis, Paul Bonezzi, Kavya Jatavallabhula, Alapakkam P. Sampath, Anthony J. Aldave

PLoS One. 2024; 19(1): e0296928. Published online 2024 Jan 22. doi: 10.1371/journal.pone.0296928

PMCID:: PMC10802951

Abstract Article PDF–3.6M

Select item 105617742.

Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy

Tianjiao Zhen, Ya Li, Qingge Guo, Shun Yao, Ya You, Bo Lei

Transl Vis Sci Technol. 2023 Oct; 12(10): 1. Published online 2023 Oct 3. doi: 10.1167/tvst.12.10.1

PMCID:: PMC10561774

Abstract Article PDF–8.1M

Select item 105477243.

Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIP₂

Yishuo Lu, Peng Zuo, Hongyi Chen, Hui Shan, Weize Wang, Zonglin Dai, He Xu, Yayu Chen, Ling Liang, Dian Ding, Yan Jin, Yuxin Yin

Nat Commun. 2023; 14: 6157. Published online 2023 Oct 3. doi: 10.1038/s41467-023-41924-0

PMCID:: PMC10547724

Abstract Article PDF–3.5M

Select item 94822034.

Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy

Mohd Salman, Anshuman Verma, Sunita Chaurasia, Deeksha Prasad, Chitra Kannabiran, Vivek Singh, Muralidhar Ramappa

Orphanet J Rare Dis. 2022; 17: 361. Published online 2022 Sep 17. doi: 10.1186/s13023-022-02521-4

Correction in:: Orphanet J Rare Dis. 2023; 18: 170.

PMCID:: PMC9482203

Abstract Article PDF–2.3M

Select item 94236125.

Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan

Afia Iqbal, Shagufta Naz, Haiba Kaul, Saima Sharif, Aysha Khushbakht, Muhammad Asif Naeem, Mehwish Iqtedar, Afshan Kaleem, Sabika Firasat, Farkhanda Manzoor

PLoS One. 2022; 17(8): e0273685. Published online 2022 Aug 29. doi: 10.1371/journal.pone.0273685

Correction in:: PLoS One. 2023; 18(10): e0293769.

PMCID:: PMC9423612

Abstract Article PDF–1.2M

Select item 66456176.

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing

Kristyna Brejchova, Lubica Dudakova, Pavlina Skalicka, Robert Dobrovolny, Petr Masek, Martina Putzova, Mariya Moosajee, Stephen J. Tuft, Alice E. Davidson, Petra Liskova

Invest Ophthalmol Vis Sci. 2019 Jul; 60(8): 3084–3090. doi: 10.1167/iovs.19-26930

PMCID:: PMC6645617

Abstract Article PDF–695K

Select item 66096107.

Human Corneal Expression of SLC4A11, a Gene Mutated in Endothelial Corneal Dystrophies

Darpan Malhotra, Sampath K. Loganathan, Anthony M. Chiu, Chris M. Lukowski, Joseph R. Casey

Sci Rep. 2019; 9: 9681. Published online 2019 Jul 4. doi: 10.1038/s41598-019-46094-y

PMCID:: PMC6609610

Abstract Article PDF–2.4M

Select item 63893768.

R125H, W240S, C386R, and V507I SLC4A11 Mutations Associated with Corneal Endothelial Dystrophy Affect the Transporter Function but not Trafficking in PS120 cells

Shimin Li, Karmjot Singh Hundal, Xingjuan Chen, Moonjung Choi, Diego G. Ogando, Alexander G. Obukhov, Joseph A. Bonanno

Exp Eye Res. Author manuscript; available in PMC 2020 Mar 1.

Published in final edited form as: Exp Eye Res. 2019 Mar; 180: 86–91. Published online 2018 Dec 14. doi: 10.1016/j.exer.2018.12.003

PMCID:: PMC6389376

Abstract Article PDF–896K

Select item 56655599.

High SLC4A11 expression is an independent predictor for poor overall survival in grade 3/4 serous ovarian cancer

Lianzhi Qin, Ting Li, Yuhua Liu

PLoS One. 2017; 12(11): e0187385. Published online 2017 Nov 1. doi: 10.1371/journal.pone.0187385

PMCID:: PMC5665559

Abstract Article PDF–14M

Select item 548142710.

SLC4A11 depletion impairs NRF2 mediated antioxidant signaling and increases reactive oxygen species in human corneal endothelial cells during oxidative stress

Sanjukta Guha, Sunita Chaurasia, Charanya Ramachandran, Sanhita Roy

Sci Rep. 2017; 7: 4074. Published online 2017 Jun 22. doi: 10.1038/s41598-017-03654-4

PMCID:: PMC5481427

Abstract Article PDF–4.7M

Select item 520630811.

Mouse Slc4a11 expressed in Xenopus oocytes is an ideally selective H⁺/OH⁻ conductance pathway that is stimulated by rises in intracellular and extracellular pH

Evan J. Myers, Aniko Marshall, Michael L. Jennings, Mark D. Parker

Am J Physiol Cell Physiol. 2016 Dec 1; 311(6): C945–C959. Published online 2016 Sep 28. doi: 10.1152/ajpcell.00259.2016

PMCID:: PMC5206308

Abstract Article

Select item 513058612.

Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies

Sampath K. Loganathan, Hans-Peter Schneider, Patricio E. Morgan, Joachim W. Deitmer, Joseph R. Casey

Am J Physiol Cell Physiol. 2016 Nov 1; 311(5): C735–C748. Published online 2016 Aug 24. doi: 10.1152/ajpcell.00078.2016

PMCID:: PMC5130586

Abstract Article

Select item 513058313.

Multifunctional ion transport properties of human SLC4A11: comparison of the SLC4A11-B and SLC4A11-C variants

Liyo Kao, Rustam Azimov, Xuesi M. Shao, Ricardo F. Frausto, Natalia Abuladze, Debra Newman, Anthony J. Aldave, Ira Kurtz

Am J Physiol Cell Physiol. 2016 Nov 1; 311(5): C820–C830. Published online 2016 Aug 31. doi: 10.1152/ajpcell.00233.2016

PMCID:: PMC5130583

Abstract Article

Select item 502607214.

Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations

Babu Lal Kumawat, Ranjan Gupta, Arundhati Sharma, Seema Sen, Shikha Gupta, Radhika Tandon

Indian J Ophthalmol. 2016 Jul; 64(7): 492–495. doi: 10.4103/0301-4738.190100

PMCID:: PMC5026072

Abstract Article PDF–814K

Select item 458834415.

SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy

Sangita P. Patel, Mark D. Parker

Biomed Res Int. 2015; 2015: 475392. Published online 2015 Sep 16. doi: 10.1155/2015/475392

PMCID:: PMC4588344

Abstract Article PDF–1.1M

Select item 450543516.

Human SLC4A11 Is a Novel NH₃/H⁺ Co-transporter

Wenlin Zhang, Diego G. Ogando, Joseph A. Bonanno, Alexander G. Obukhov

J Biol Chem. 2015 Jul 3; 290(27): 16894–16905. Published online 2015 May 27. doi: 10.1074/jbc.M114.627455

PMCID:: PMC4505435

Abstract Article PDF–1.7M

Select item 429776917.

Human SLC4A11-C functions as a DIDS-stimulatable H⁺(OH⁻) permeation pathway: partial correction of R109H mutant transport

Liyo Kao, Rustam Azimov, Natalia Abuladze, Debra Newman, Ira Kurtz

Am J Physiol Cell Physiol. 2015 Jan 15; 308(2): C176–C188. Published online 2014 Nov 12. doi: 10.1152/ajpcell.00271.2014

PMCID:: PMC4297769

Abstract Article

Select item 419557718.

Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome

Salina Siddiqui, Juan Carlos Zenteno, Aine Rice, Oscar Chacón-Camacho, Steven G. Naylor, David Rivera-de la Parra, David M. Spokes, Nigel James, Carmel Toomes, Chris F. Inglehearn, Manir Ali

Cornea. 2014 Mar; 33(3): 247–251. Published online 2013 Dec 17. doi: 10.1097/ICO.0000000000000041

PMCID:: PMC4195577

Abstract Article PDF–523K

Select item 400748219.

Depletion of SLC4A11 Causes Cell Death by Apoptosis in an Immortalized Human Corneal Endothelial Cell Line

Jun Liu, Li-Fong Seet, Li Wei Koh, Anandalakshmi Venkatraman, Divya Venkataraman, Rajiv R. Mohan, Jeppe Praetorius, Joseph A. Bonanno, Tin Aung, Eranga N. Vithana

Invest Ophthalmol Vis Sci. 2012 Jun; 53(7): 3270–3279. Published online 2012 Jun 5. doi: 10.1167/iovs.11-8724

PMCID:: PMC4007482

Abstract Article PDF–510K

Select item 379866820.

SLC4A11 is an EIPA-sensitive Na⁺ permeable pH_i regulator

Diego G. Ogando, Supriya S. Jalimarada, Wenlin Zhang, Eranga N. Vithana, Joseph A. Bonanno

Am J Physiol Cell Physiol. 2013 Oct 1; 305(7): C716–C727. Published online 2013 Jul 17. doi: 10.1152/ajpcell.00056.2013

PMCID:: PMC3798668

Abstract Article

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PMC Links for Gene (Select 83959) (41)
PMC
PREDICTED: Homo sapiens CKLF like MARVEL transmembrane domain containing 4 (CMTM...
PREDICTED: Homo sapiens CKLF like MARVEL transmembrane domain containing 4 (CMTM4), transcript variant X3, misc_RNA
gi|2462547638|ref|XR_008489058.1|

Nucleotide
Halcyon smyrnensis voucher USNM 645886 cytochrome oxidase subunit 1 (COI) gene, ...
Halcyon smyrnensis voucher USNM 645886 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|815930484|gnl|uoguelph|SIBIQ098- I-5P|gb|KP252192.1|

Nucleotide
PREDICTED: Homo sapiens solute carrier family 4 member 11 (SLC4A11), transcript ...
PREDICTED: Homo sapiens solute carrier family 4 member 11 (SLC4A11), transcript variant X2, mRNA
gi|2217336332|ref|XM_047440540.1|

Nucleotide

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