These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
174 related articles for article (PubMed ID: 17667634)
21. SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy. Patel SP; Parker MD Biomed Res Int; 2015; 2015():475392. PubMed ID: 26451371 [TBL] [Abstract][Full Text] [Related]
22. Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2). Kaul H; Suman M; Khan Z; Ullah MI; Ashfaq UA; Idrees S Clin Exp Optom; 2016 Jan; 99(1):73-7. PubMed ID: 26286922 [TBL] [Abstract][Full Text] [Related]
23. Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. Aldahmesh MA; Khan AO; Meyer BF; Alkuraya FS Invest Ophthalmol Vis Sci; 2009 Sep; 50(9):4142-5. PubMed ID: 19369245 [TBL] [Abstract][Full Text] [Related]
24. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. Desir J; Moya G; Reish O; Van Regemorter N; Deconinck H; David KL; Meire FM; Abramowicz MJ J Med Genet; 2007 May; 44(5):322-6. PubMed ID: 17220209 [TBL] [Abstract][Full Text] [Related]
25. 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 Transl Vis Sci Technol; 2023 Oct; 12(10):1. PubMed ID: 37787991 [TBL] [Abstract][Full Text] [Related]
27. Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation. Liskova P; Dudakova L; Tesar V; Bednarova V; Kidorova J; Jirsova K; Davidson AE; Hardcastle AJ Ophthalmic Res; 2015; 53(1):30-5. PubMed ID: 25500497 [TBL] [Abstract][Full Text] [Related]
28. Absence of phenotype-genotype correlation of patients expressing mutations in the SLC4A11 gene. Mehta JS; Hemadevi B; Vithana EN; Arunkumar J; Srinivasan M; Prajna V; Tan DT; Aung T; Sundaresan P Cornea; 2010 Mar; 29(3):302-6. PubMed ID: 20118786 [TBL] [Abstract][Full Text] [Related]
29. 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 Ophthalmic Genet; 2019 Apr; 40(2):91-98. PubMed ID: 30856043 [TBL] [Abstract][Full Text] [Related]
30. SLC4A11 mutations in Fuchs endothelial corneal dystrophy. Vithana EN; Morgan PE; Ramprasad V; Tan DT; Yong VH; Venkataraman D; Venkatraman A; Yam GH; Nagasamy S; Law RW; Rajagopal R; Pang CP; Kumaramanickevel G; Casey JR; Aung T Hum Mol Genet; 2008 Mar; 17(5):656-66. PubMed ID: 18024964 [TBL] [Abstract][Full Text] [Related]
31. 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 Orphanet J Rare Dis; 2022 Sep; 17(1):361. PubMed ID: 36115991 [TBL] [Abstract][Full Text] [Related]
32. 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 PLoS One; 2024; 19(1):e0296928. PubMed ID: 38252645 [TBL] [Abstract][Full Text] [Related]
35. 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 Am J Physiol Cell Physiol; 2016 Nov; 311(5):C820-C830. PubMed ID: 27581649 [TBL] [Abstract][Full Text] [Related]
36. Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. Riazuddin SA; Vithana EN; Seet LF; Liu Y; Al-Saif A; Koh LW; Heng YM; Aung T; Meadows DN; Eghrari AO; Gottsch JD; Katsanis N Hum Mutat; 2010 Nov; 31(11):1261-8. PubMed ID: 20848555 [TBL] [Abstract][Full Text] [Related]