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Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.
Published in:
2011
By:
- Zode, Gulab S.;
- Kuehn, Markus H.;
- Nishimura, Darryl Y.;
- Searby, Charles C.;
- Mohan, Kabhilan;
- Grozdanic, Sinisa D.;
- Bugge, Kevin;
- Anderson, Michael G.;
- Clark, Abbot F.;
- Stone, Edwin M.;
- Sheffield, Val C.
Publication type:
journal article
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.
Published in:
2008
By:
- Rahmouni, Kamal;
- Fath, Melissa A.;
- Seongjin Seo;
- Thedens, Daniel R.;
- Berry, Christopher J.;
- Weiss, Robert;
- Nishimura, Darryl Y.;
- Sheffield, Val C.;
- Seo, Seongjin
Publication type:
journal article
Abnormal development of NG2<sup>+</sup>PDGFR-?<sup>+</sup> neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model.
Published in:
Nature Medicine, 2012, v. 18, n. 12, p. 1797, doi. 10.1038/nm.2996
By:
- Carter, Calvin S;
- Vogel, Timothy W;
- Zhang, Qihong;
- Seo, Seongjin;
- Swiderski, Ruth E;
- Moninger, Thomas O;
- Cassell, Martin D;
- Thedens, Daniel R;
- Keppler-Noreuil, Kim M;
- Nopoulos, Peggy;
- Nishimura, Darryl Y;
- Searby, Charles C;
- Bugge, Kevin;
- Sheffield, Val C
Publication type:
Article
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Published in:
Nature Genetics, 2002, v. 31, n. 4, p. 435, doi. 10.1038/ng935
By:
- Mykytyn, Kirk;
- Nishimura, Darryl Y.;
- Searby, Charles C.;
- Shastri, Mythreyi;
- Yen, Hsan-jan;
- Beck, John S.;
- Braun, Terry;
- Streb, Luan M.;
- Cornier, Alberto S.;
- Cox, Gerald F.;
- Fulton, Anne B.;
- Carmi, Rivka;
- Lüleci, Güven;
- Chandrasekharappa, Settara C.;
- Collins, Francis S.;
- Jacobson, Samuel G.;
- Heckenlively, John R.;
- Weleber, Richard G.;
- Stone, Edwin M.;
- Sheffield, Val C.
Publication type:
Article
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment.
Published in:
PLoS Genetics, 2017, v. 13, n. 10, p. 1, doi. 10.1371/journal.pgen.1007057
By:
- Hsu, Ying;
- Garrison, Janelle E.;
- Kim, Gunhee;
- Schmitz, Addison R.;
- Searby, Charles C.;
- Zhang, Qihong;
- Datta, Poppy;
- Nishimura, Darryl Y.;
- Seo, Seongjin;
- Sheffield, Val C.
Publication type:
Article
Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects.
Published in:
Developmental Dynamics, 1999, v. 216, n. 1, p. 16, doi. 10.1002/(SICI)1097-0177(199909)216:1<16::AID-DVDY4>3.0.CO;2-1
By:
- Swiderski, Ruth E.;
- Reiter, Rebecca S.;
- Nishimura, Darryl Y.;
- Alward, Wallace L.M.;
- Kalenak, Jeffrey W.;
- Searby, Charles S.;
- Stone, Edwin M.;
- Sheffield, Val C.;
- Lin, Jim Jung-Ching
Publication type:
Article
Metabolic and proteomic indications of diabetes progression in human aqueous humor.
Published in:
PLoS ONE, 2023, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0280491
By:
- Fortenbach, Christopher R.;
- Skeie, Jessica M.;
- Sevcik, Kristina M.;
- Johnson, A. Tim;
- Oetting, Thomas A.;
- Haugsdal, Jaclyn M.;
- Sales, Christopher S.;
- Nishimura, Darryl Y.;
- Taylor, Eric B.;
- Schmidt, Gregory A.;
- Greiner, Mark A.
Publication type:
Article
Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform.
Published in:
PLoS Genetics, 2010, v. 6, n. 3, p. 1, doi. 10.1371/journal.pgen.1000884
By:
- Pretorius, Pamela R.;
- Baye, Lisa M.;
- Nishimura, Darryl Y.;
- Searby, Charles C.;
- Bugge, Kevin;
- Baoli Yang;
- Mullins, Robert F.;
- Stone, Edwin M.;
- Sheffield, Val C.;
- Slusarski, Diane C.
Publication type:
Article
Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes.
Published in:
Human Mutation, 2010, v. 31, n. 4, p. 429, doi. 10.1002/humu.21204
By:
- Hjortshøj, Tina Duelund;
- Grønskov, Karen;
- Philp, Alisdair R.;
- Nishimura, Darryl Y.;
- Riise, Ruth;
- Sheffield, Val C.;
- Rosenberg, Thomas;
- Brøndum-Nielsen, Karen
Publication type:
Article
Mkks-null mice have a phenotype resembling Bardet–Biedl syndrome.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 9, p. 1109, doi. 10.1093/hmg/ddi123
By:
- Fath, Melissa A.;
- Mullins, Robert F.;
- Searby, Charles;
- Nishimura, Darryl Y.;
- Wei, Jun;
- Rahmouni, Kamal;
- Davis, Roger E.;
- Tayeh, Marwan K.;
- Andrews, Michael;
- Yang, Baoli;
- Sigmund, Curt D.;
- Stone, Edwin M.;
- Sheffield, Val C.
Publication type:
Article
Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2).
Published in:
Human Molecular Genetics, 2001, v. 10, n. 8, p. 865, doi. 10.1093/hmg/10.8.865
By:
- Nishimura, Darryl Y.;
- Searby, Charles C.;
- Carmi, Rivka;
- Elbedour, Khalil;
- Maldergem, Lionel Van;
- Fulton, Anne B.;
- Lam, Byron L.;
- Powell, Berkley R.;
- Swiderski, Ruth E.;
- Bugge, Kevin E.;
- Haider, Neena B.;
- Kwitek-Black, Anne E.;
- Ying, Lihua;
- Duhl, David M.;
- Gorman, Susan W.;
- Heon, Elise;
- Iannaccone, Alessandro;
- Bonneau, Dominique;
- Biesecker, Leslie G.;
- Jacobson, Samuel G.
Publication type:
Article
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
Published in:
Human Molecular Genetics, 2001, v. 10, n. 8, p. 865, doi. 10.1093/hmg/10.8.865
By:
- Nishimura, Darryl Y.;
- Searby, Charles C.;
- Carmi, Rivka;
- Elbedour, Khalil;
- Maldergem, Lionel Van;
- Fulton, Anne B.;
- Lam, Byron L.;
- Powell, Berkley R.;
- Swiderski, Ruth E.;
- Bugge, Kevin E.;
- Haider, Neena B.;
- Kwitek-Black, Anne E.;
- Ying, Lihua;
- Duhl, David M.;
- Gorman, Susan W.;
- Heon, Elise;
- Iannaccone, Alessandro;
- Bonneau, Dominique;
- Biesecker, Leslie G.;
- Jacobson, Samuel G.
Publication type:
Article
Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.
Published in:
Human Molecular Genetics, 2000, v. 9, n. 7, p. 1021, doi. 10.1093/hmg/9.7.1021
By:
- Smith, Richard S.;
- Zabaleta, Adriana;
- Kume, Tsutomu;
- Savinova, Olga V.;
- Kidson, Susan H.;
- Martin, Janice E.;
- Nishimura, Darryl Y.;
- Alward, Wallace L. M.;
- Hogan, Brigid L. M.;
- John, Simon W. M.
Publication type:
Article
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
Published in:
Nature Genetics, 1998, v. 19, n. 2, p. 140, doi. 10.1038/493
By:
- Nishimura, Darryl Y.;
- Swiderski, Ruth E.;
- Alward, Wallace L. M.;
- Searby, Charles C.;
- Patil, Shivanand R.;
- Bennet, Steven R.;
- Kanis, Adam B.;
- Gastier, Julie M.;
- Stone, Edwin M.;
- Sheffield, Val C.
Publication type:
Article

Found: 14