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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
Published in:
2011
By:
- Boldt, Karsten;
- Mans, Dorus A.;
- Jungyeon Won;
- van Reeuwijk, Jeroen;
- Vogt, Andreas;
- Kinkl, Norbert;
- Letteboer, Stef J. F.;
- Hicks, Wanda L.;
- Hurd, Ron E.;
- Jürgen K. Naggert;
- Texier, Yves;
- den Hollander, Anneke I.;
- Koenekoop, Robert K.;
- Bennett, Jean;
- Cremers, Frans P. M.;
- Gloeckner, Christian J.;
- Nishina, Patsy M.;
- Roepman, Ronald;
- Ueffing, Marius;
- Won, Jungyeon
Publication type:
journal article
Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses.
Published in:
Journal of Physiology, 2008, v. 586, n. 18, p. 4409, doi. 10.1113/jphysiol.2008.157289
By:
- Maddox, Dennis M.;
- Vessey, Kirstan A.;
- Yarbrough, Gary L.;
- Invergo, Brandon M.;
- Cantrell, Donald R.;
- Inayat, Samsoon;
- Balannik, Victoria;
- Hicks, Wanda L.;
- Hawes, Norman L.;
- Byers, Shannon;
- Smith, Richard S.;
- Hurd, Ron;
- Howell, Douglas;
- Gregg, Ronald G.;
- Chang, Bo;
- Naggert, Jürgen K.;
- Troy, John B.;
- Pinto, Lawrence H.;
- Nishina, Patsy M.;
- McCall, Maureen A.
Publication type:
Article
Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments.
Published in:
Visual Neuroscience, 2008, v. 25, n. 5/6, p. 713, doi. 10.1017/S0952523808080887
By:
- JUNGYEON WON;
- RICHARD S. SMITH;
- NEAL S. PEACHEY;
- JIANG WU;
- WANDA L. HICKS;
- J?RGEN K. NAGGERT;
- PATSY M. NISHINA
Publication type:
Article
Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments.
Published in:
Visual Neuroscience, 2008, v. 25, n. 4, p. 563, doi. 10.1017/S0952523808080723
By:
- JUNGYEON WON;
- RICHARD S. SMITH;
- NEAL S. PEACHEY;
- JIANG WU;
- WANDA L. HICKS;
- J?RGEN K. NAGGERT;
- PATSY M. NISHINA
Publication type:
Article
Gene Profiling of Postnatal Mfrprd6 Mutant Eyes Reveals Differential Accumulation of Prss56, Visual Cycle and Phototransduction mRNAs.
Published in:
PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0110299
By:
- Soundararajan, Ramani;
- Won, Jungyeon;
- Stearns, Timothy M.;
- Charette, Jeremy R.;
- Hicks, Wanda L.;
- Collin, Gayle B.;
- Naggert, Jürgen K.;
- Krebs, Mark P.;
- Nishina, Patsy M.
Publication type:
Article
An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 19, p. 3340, doi. 10.1093/hmg/ddy238
By:
- Kong, Yang;
- Zhao, Lihong;
- Charette, Jeremy R;
- Hicks, Wanda L;
- Stone, Lisa;
- Nishina, Patsy M;
- Naggert, Jürgen K
Publication type:
Article
Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 24, p. 6958, doi. 10.1093/hmg/ddv399
By:
- Collin, Gayle B.;
- Hubmacher, Dirk;
- Charette, Jeremy R.;
- Hicks, Wanda L.;
- Stone, Lisa;
- Minzhong Yu;
- Naggert, Jürgen K.;
- Krebs, Mark P.;
- Peachey, Neal S.;
- Apte, Suneel S.;
- Nishina, Patsy M.
Publication type:
Article
NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 3, p. 482, doi. 10.1093/hmg/ddq494
By:
- Won, Jungyeon;
- de Evsikova, Caralina Marín;
- Smith, Richard S.;
- Hicks, Wanda L.;
- Edwards, Malia M.;
- Longo-Guess, Chantal;
- Li, Tiansen;
- Naggert, Jürgen K.;
- Nishina, Patsy M.
Publication type:
Article
RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 22, p. 4329, doi. 10.1093/hmg/ddp385
By:
- Won, Jungyeon;
- Gifford, Elaine;
- Smith, Richard S.;
- Yi, Haiqing;
- Ferreira, Paulo A.;
- Hicks, Wanda L.;
- Li, Tiansen;
- Naggert, Jürgen K.;
- Nishina, Patsy M.
Publication type:
Article
Mouse models of human ocular disease for translational research.
Published in:
PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0183837
By:
- Krebs, Mark P.;
- Collin, Gayle B.;
- Hicks, Wanda L.;
- Yu, Minzhong;
- Charette, Jeremy R.;
- Shi, Lan Ying;
- Wang, Jieping;
- Naggert, Jürgen K.;
- Peachey, Neal S.;
- Nishina, Patsy M.
Publication type:
Article

Found: 10

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.

Allelic variance between GRM6 mutants, Grm6<sup>nob3</sup> and Grm6<sup>nob4</sup> results in differences in retinal ganglion cell visual responses.

Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments.

Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments.

Gene Profiling of Postnatal Mfrp<sup>rd6</sup> Mutant Eyes Reveals Differential Accumulation of Prss56, Visual Cycle and Phototransduction mRNAs.

An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency.

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.

RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.

Mouse models of human ocular disease for translational research.