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 *

208 related articles for article (PubMed ID: 17405131)

  • 1. Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.
    Zeitz C; Forster U; Neidhardt J; Feil S; Kälin S; Leifert D; Flor PJ; Berger W
    Hum Mutat; 2007 Aug; 28(8):771-80. PubMed ID: 17405131
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness.
    Beqollari D; Betzenhauser MJ; Kammermeier PJ
    Mol Pharmacol; 2009 Nov; 76(5):992-7. PubMed ID: 19666700
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
    Zeitz C; van Genderen M; Neidhardt J; Luhmann UF; Hoeben F; Forster U; Wycisk K; Mátyás G; Hoyng CB; Riemslag F; Meire F; Cremers FP; Berger W
    Invest Ophthalmol Vis Sci; 2005 Nov; 46(11):4328-35. PubMed ID: 16249515
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Structures of the extracellular regions of the group II/III metabotropic glutamate receptors.
    Muto T; Tsuchiya D; Morikawa K; Jingami H
    Proc Natl Acad Sci U S A; 2007 Mar; 104(10):3759-64. PubMed ID: 17360426
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
    Sergouniotis PI; Robson AG; Li Z; Devery S; Holder GE; Moore AT; Webster AR
    Acta Ophthalmol; 2012 May; 90(3):e192-7. PubMed ID: 22008250
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A missense mutation in
    Peachey NS; Hasan N; FitzMaurice B; Burrill S; Pangeni G; Karst SY; Reinholdt L; Berry ML; Strobel M; Gregg RG; McCall MA; Chang B
    J Neurophysiol; 2017 Aug; 118(2):845-854. PubMed ID: 28490646
    [No Abstract]   [Full Text] [Related]  

  • 7. Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport.
    Belville C; Maréchal JD; Pennetier S; Carmillo P; Masgrau L; Messika-Zeitoun L; Galey J; Machado G; Treton D; Gonzalès J; Picard JY; Josso N; Cate RL; di Clemente N
    Hum Mol Genet; 2009 Aug; 18(16):3002-13. PubMed ID: 19457927
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular determinants of metabotropic glutamate receptor 1B trafficking.
    Chan WY; Soloviev MM; Ciruela F; McIlhinney RA
    Mol Cell Neurosci; 2001 Mar; 17(3):577-88. PubMed ID: 11273651
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The G protein-coupling profile of metabotropic glutamate receptors, as determined with exogenous G proteins, is independent of their ligand recognition domain.
    Parmentier ML; Joly C; Restituito S; Bockaert J; Grau Y; Pin JP
    Mol Pharmacol; 1998 Apr; 53(4):778-86. PubMed ID: 9547371
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W.
    Peloquin JB; Rehak R; Doering CJ; McRory JE
    Neuroscience; 2007 Dec; 150(2):335-45. PubMed ID: 17949918
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
    Bech-Hansen NT; Naylor MJ; Maybaum TA; Sparkes RL; Koop B; Birch DG; Bergen AA; Prinsen CF; Polomeno RC; Gal A; Drack AV; Musarella MA; Jacobson SG; Young RS; Weleber RG
    Nat Genet; 2000 Nov; 26(3):319-23. PubMed ID: 11062471
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genotyping microarray for CSNB-associated genes.
    Zeitz C; Labs S; Lorenz B; Forster U; Uksti J; Kroes HY; De Baere E; Leroy BP; Cremers FP; Wittmer M; van Genderen MM; Sahel JA; Audo I; Poloschek CM; Mohand-Saïd S; Fleischhauer JC; Hüffmeier U; Moskova-Doumanova V; Levin AV; Hamel CP; Leifert D; Munier FL; Schorderet DF; Zrenner E; Friedburg C; Wissinger B; Kohl S; Berger W
    Invest Ophthalmol Vis Sci; 2009 Dec; 50(12):5919-26. PubMed ID: 19578023
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.
    Beysen D; Moumné L; Veitia R; Peters H; Leroy BP; De Paepe A; De Baere E
    Hum Mol Genet; 2008 Jul; 17(13):2030-8. PubMed ID: 18372316
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A common NYX mutation in Flemish patients with X linked CSNB.
    Leroy BP; Budde BS; Wittmer M; De Baere E; Berger W; Zeitz C
    Br J Ophthalmol; 2009 May; 93(5):692-6. PubMed ID: 18617546
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Band 4.1 proteins are expressed in the retina and interact with both isoforms of the metabotropic glutamate receptor type 8.
    Rose M; Dütting E; Enz R
    J Neurochem; 2008 Jun; 105(6):2375-87. PubMed ID: 18373558
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Structural characterization of intracellular C-terminal domains of group III metabotropic glutamate receptors.
    Seebahn A; Dinkel H; Mohrlüder J; Hartmann R; Vogel N; Becker CM; Sticht H; Enz R
    FEBS Lett; 2011 Feb; 585(3):511-6. PubMed ID: 21219903
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Disease-associated mutations affect GPR56 protein trafficking and cell surface expression.
    Jin Z; Tietjen I; Bu L; Liu-Yesucevitz L; Gaur SK; Walsh CA; Piao X
    Hum Mol Genet; 2007 Aug; 16(16):1972-85. PubMed ID: 17576745
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness.
    Qian H; Ji R; Gregg RG; Peachey NS
    Vis Neurosci; 2015 Jan; 32():E004. PubMed ID: 26241901
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.
    Blanz J; Groth J; Zachos C; Wehling C; Saftig P; Schwake M
    Hum Mol Genet; 2010 Feb; 19(4):563-72. PubMed ID: 19933215
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness.
    Orhan E; Prézeau L; El Shamieh S; Bujakowska KM; Michiels C; Zagar Y; Vol C; Bhattacharya SS; Sahel JA; Sennlaub F; Audo I; Zeitz C
    Invest Ophthalmol Vis Sci; 2013 Dec; 54(13):8041-50. PubMed ID: 24222301
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.