| Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells. | Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.
Chung DD, Chen AC, Choo CH, Zhang W, Williams D, Griffis CG, Bonezzi P, Jatavallabhula K, Sampath AP, Aldave AJ., Free PMC Article | 02/1/2024 |
| Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIP2. | Structural insights into the conformational changes of BTR1/SLC4A11 in complex with PIP(2).
Lu Y, Zuo P, Chen H, Shan H, Wang W, Dai Z, Xu H, Chen Y, Liang L, Ding D, Jin Y, Yin Y., Free PMC Article | 11/2/2023 |
| Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy. | Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants in Patients With Congenital Hereditary Endothelial Dystrophy.
Zhen T, Li Y, Guo Q, Yao S, You Y, Lei B., Free PMC Article | 11/2/2023 |
| Compound heterozygous mutations in the SLC4A11 gene associated with congenital hereditary endothelial dystrophy in a Chinese family. | Compound heterozygous mutations in the SLC4A11 gene associated with congenital hereditary endothelial dystrophy in a Chinese family.
Liu M, Xia JL, Yang H, Yu L. | 10/29/2022 |
| Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy. | Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy.
Salman M, Verma A, Chaurasia S, Prasad D, Kannabiran C, Singh V, Ramappa M., Free PMC Article | 10/8/2022 |
| Corneal dystrophy mutations R125H and R804H disable SLC4A11 by altering the extracellular pH dependence of the intracellular pK that governs H(+)(OH(-)) transport. | Corneal dystrophy mutations R125H and R804H disable SLC4A11 by altering the extracellular pH dependence of the intracellular pK that governs H(+)(OH(-)) transport.
Quade BN, Marshall A, Parker MD., Free PMC Article | 10/8/2022 |
| Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan. | Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan.
Iqbal A, Naz S, Kaul H, Sharif S, Khushbakht A, Naeem MA, Iqtedar M, Kaleem A, Firasat S, Manzoor F., Free PMC Article | 09/3/2022 |
| Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families. | Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families.
Chibani Z, Abid IZ, Söderkvist P, Feki J, Aifa MH. | 04/30/2022 |
| SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families. | SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.
Firasat S, Dur-E-Shawar, Khan WA, Sughra U, Nousheen, Kaul H, Naz S, Noreen B, Gul R, Afshan K. | 02/26/2022 |
| Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation. | Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation.
Tananuvat N, Tananuvat R, Chartapisak W, Mahanupab P, Hokierti C, Srikummool M, Kampuansai J, Intachai W, Olsen B, Ketudat Cairns JR, Kantaputra P. | 07/3/2021 |
| Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family. | Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family.
Moazzeni H, Javadi MA, Asgari D, Khani M, Emami M, Moghadam A, Panahi-Bazaz MR, Hosseini Tehrani M, Karimian F, Hosseini B, Nekuie Moghadam T, Hassanpour H, Akbari MT, Elahi E. | 02/27/2021 |
| [Identification of novel mutations of SLC4A11 gene in patients with congenital hereditary endothelial dystrophy]. | [Identification of novel mutations of SLC4A11 gene in patients with congenital hereditary endothelial dystrophy].
Li Y, Zhang J, Xu JJ. | 02/13/2021 |
| Defective cell adhesion function of solute transporter, SLC4A11, in endothelial corneal dystrophies. | Defective cell adhesion function of solute transporter, SLC4A11, in endothelial corneal dystrophies.
Malhotra D, Jung M, Fecher-Trost C, Lovatt M, Peh GSL, Noskov S, Mehta JS, Zimmermann R, Casey JR. | 12/26/2020 |
| Human Corneal Expression of SLC4A11, a Gene Mutated in Endothelial Corneal Dystrophies. | Human Corneal Expression of SLC4A11, a Gene Mutated in Endothelial Corneal Dystrophies.
Malhotra D, Loganathan SK, Chiu AM, Lukowski CM, Casey JR., Free PMC Article | 10/31/2020 |
| pH dependence of the Slc4a11-mediated H(+) conductance is influenced by intracellular lysine residues and modified by disease-linked mutations. | pH dependence of the Slc4a11-mediated H(+) conductance is influenced by intracellular lysine residues and modified by disease-linked mutations.
Quade BN, Marshall A, Parker MD., Free PMC Article | 10/24/2020 |
| The five Corneal Dystrophy and Perceptive Deafness (CDPD) patients were homozygous for the same mutation in the SLC4A11 gene. Haplotype analysis of all the affected, including the case reported from Argentina was in accordance with a founder mutation. | Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families.
Romero PT, Donoso R, López P, Miranda A, Rodríguez L, Chrzanowsky D, Asenjo MS, Burgos G, Villegas P, Desir J, Moya G, Herrera LM. | 03/14/2020 |
| This proof-of-concept study highlights the potential of using CE-like cells to investigate the pathogenic consequences of SLC4A11 disease-associated variants | IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.
Brejchova K, Dudakova L, Skalicka P, Dobrovolny R, Masek P, Putzova M, Moosajee M, Tuft SJ, Davidson AE, Liskova P., Free PMC Article | 12/14/2019 |
| To identify SLC4A11 mutants that are targets for folding-correction therapy, 54 SLC4A11 missense mutants, were identified. | Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophies.
Alka K, Casey JR. | 05/18/2019 |
| Thus, our data suggest that these SLC4A11 mutants, rather than having impaired protein trafficking, show altered H(+) flux properties. | R125H, W240S, C386R, and V507I SLC4A11 mutations associated with corneal endothelial dystrophy affect the transporter function but not trafficking in PS120 cells.
Li S, Hundal KS, Chen X, Choi M, Ogando DG, Obukhov AG, Bonanno JA., Free PMC Article | 05/11/2019 |
| our data suggests a possible role of SLC4A11 in regulating oxidative stress, and might be responsible for both the etiology and treatment of corneal endothelial dystrophy. | SLC4A11 depletion impairs NRF2 mediated antioxidant signaling and increases reactive oxygen species in human corneal endothelial cells during oxidative stress.
Guha S, Chaurasia S, Ramachandran C, Roy S., Free PMC Article | 01/5/2019 |
| Based on these findings, we infer that high SLC4A11 expression is an independent predictor for poor OS in grade 3/4 serous ovarian cancer. Both DNA amplification and hypomethylation contribute to its upregulation in ovarian cancer | High SLC4A11 expression is an independent predictor for poor overall survival in grade 3/4 serous ovarian cancer.
Qin L, Li T, Liu Y., Free PMC Article | 12/9/2017 |
| A missense SLC4A11 mutation (Leu843Pro) is responsible for CHED2 in this family; this is the first report of this mutation in a homozygous state. | Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree.
Hand CK, McGuire M, Parfrey NA, Murphy CC. | 11/18/2017 |
| for the first time, compound heterozygous SLC4A11 mutations impair protein function leading to delayed onset of the disease. | Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations.
Kumawat BL, Gupta R, Sharma A, Sen S, Gupta S, Tandon R., Free PMC Article | 08/12/2017 |
| These complex ion transport properties need to be addressed in the context of corneal endothelial disease processes caused by mutations in SLC4A11. | Multifunctional ion transport properties of human SLC4A11: comparison of the SLC4A11-B and SLC4A11-C variants.
Kao L, Azimov R, Shao XM, Frausto RF, Abuladze N, Newman D, Aldave AJ, Kurtz I., Free PMC Article | 06/10/2017 |
| A role of human SLC4A11 in bicarbonate or borate transport. | Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies.
Loganathan SK, Schneider HP, Morgan PE, Deitmer JW, Casey JR., Free PMC Article | 06/10/2017 |