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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 17262014)

  • 21. Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.
    Siddiqui S; Zenteno JC; Rice A; Chacón-Camacho O; Naylor SG; Rivera-de la Parra D; Spokes DM; James N; Toomes C; Inglehearn CF; Ali M
    Cornea; 2014 Mar; 33(3):247-51. PubMed ID: 24351571
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing Mutations.
    Badior KE; Alka K; Casey JR
    Hum Mutat; 2017 Mar; 38(3):279-288. PubMed ID: 27925686
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Autosomal recessive congenital hereditary corneal dystrophy associated with a novel
    Chibani Z; Abid IZ; Söderkvist P; Feki J; Aifa MH
    Br J Ophthalmol; 2022 Feb; 106(2):281-287. PubMed ID: 33879471
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Observation of nine previously reported and 10 non-reported
    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
    Br J Ophthalmol; 2020 Nov; 104(11):1621-1628. PubMed ID: 31420327
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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
    Indian J Ophthalmol; 2016 Jul; 64(7):492-5. PubMed ID: 27609159
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).
    Desir J; Abramowicz M
    Orphanet J Rare Dis; 2008 Oct; 3():28. PubMed ID: 18922146
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Ophthalmic Nonsteroidal Anti-Inflammatory Drugs as a Therapy for Corneal Dystrophies Caused by SLC4A11 Mutation.
    Alka K; Casey JR
    Invest Ophthalmol Vis Sci; 2018 Aug; 59(10):4258-4267. PubMed ID: 30140924
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.
    Cunnusamy K; Bowman CB; Beebe W; Gong X; Hogan RN; Mootha VV
    Cornea; 2016 Feb; 35(2):281-5. PubMed ID: 26619383
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Corneal dystrophy-causing SLC4A11 mutants: suitability for folding-correction therapy.
    Loganathan SK; Casey JR
    Hum Mutat; 2014 Sep; 35(9):1082-91. PubMed ID: 24916015
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Novel human pathological mutations. Gene symbol: SLC4A11. Disease: Corneal endothelial dystrophy 2.
    Chai SM; Vithana EN; Venkataraman D; Saleh H; Chekkalichintavida NP; al-Sayyed F; Aung T
    Hum Genet; 2010 Jan; 127(1):110. PubMed ID: 20108384
    [No Abstract]   [Full Text] [Related]  

  • 33. Human Corneal Expression of SLC4A11, a Gene Mutated in Endothelial Corneal Dystrophies.
    Malhotra D; Loganathan SK; Chiu AM; Lukowski CM; Casey JR
    Sci Rep; 2019 Jul; 9(1):9681. PubMed ID: 31273259
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 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]  

  • 37. Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.
    Hemadevi B; Srinivasan M; Arunkumar J; Prajna NV; Sundaresan P
    BMC Ophthalmol; 2010 Feb; 10():3. PubMed ID: 20144242
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. 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
    J Hum Genet; 2021 Feb; 66(2):193-203. PubMed ID: 32884076
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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
    Invest Ophthalmol Vis Sci; 2019 Jul; 60(8):3084-3090. PubMed ID: 31323090
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.