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Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma.
Published in:
2014
By:
- Zode, Gulab S;
- Sharma, Arti B;
- Lin, Xiaolei;
- Searby, Charles C;
- Bugge, Kevin;
- Kim, Gun Hee;
- Clark, Abbot F;
- Sheffield, Val C
Publication type:
journal article
Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 5, p. 1956, doi. 10.1172/JCI69774
By:
- Zode, Gulab S.;
- Sharma, Arti B.;
- Xiaolei Lin;
- Searby, Charles C.;
- Bugge, Kevin;
- Gun Hee Kim;
- Clark, Abbot F.;
- Sheffield, Val C.
Publication type:
Article
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
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
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
Published in:
Nature Genetics, 2001, v. 28, n. 2, p. 188, doi. 10.1038/88925
By:
- Mykytyn, Kirk;
- Braun, Terry;
- Carmi, Rivka;
- Haider, Neena B.;
- Searby, Charles C.;
- Shastri, Mythreyi;
- Beck, Gretel;
- Wright, Alan F.;
- Iannaccone, Alessandro;
- Elbedour, Khalil;
- Riise, Ruth;
- Baldi, Alfonso;
- Raas-Rothschild, Annick;
- Gorman, Susan W.;
- Duhl, David M.;
- Jacobson, Samuel G.;
- Casavant, Thomas;
- 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
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
Published in:
PLoS Genetics, 2017, v. 13, n. 7, p. 1, doi. 10.1371/journal.pgen.1006936
By:
- Scott, Charles Anthony;
- Marsden, Autumn N.;
- Rebagliati, Michael R.;
- Qihong Zhang;
- Chamling, Xitiz;
- Searby, Charles C.;
- Baye, Lisa M.;
- Sheffield, Val C.;
- Slusarski, Diane C.
Publication type:
Article
Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene.
Published in:
1997
By:
- Ionasescu, Victor V.;
- Searby, Charles C.;
- Ionasescu, Rebecca;
- Reisin, Ricardo;
- Ruggieri, Victor;
- Arberas, Claudia;
- Ionasescu, V V;
- Searby, C C;
- Ionasescu, R;
- Reisin, R;
- Ruggieri, V;
- Arberas, C
Publication type:
journal article
Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.
Published in:
1997
By:
- Ionasescu, Victor V.;
- Searby, Charles C.;
- Ionasescu, Rebecca;
- Chatkupt, Sansnee;
- Patel, Nitin;
- Koenigsberger, Richard;
- Ionasescu, V V;
- Searby, C C;
- Ionasescu, R;
- Chatkupt, S;
- Patel, N;
- Koenigsberger, R
Publication type:
journal article
Depletion of Labile Iron Induces Replication Stress and Enhances Responses to Chemoradiation in Non-Small-Cell Lung Cancer.
Published in:
Antioxidants, 2023, v. 12, n. 11, p. 2005, doi. 10.3390/antiox12112005
By:
- Bayanbold, Khaliunaa;
- Singhania, Mekhla;
- Fath, Melissa A.;
- Searby, Charles C.;
- Stolwijk, Jeffrey M.;
- Henrich, John B.;
- Pulliam, Casey F.;
- Schoenfeld, Joshua D.;
- Mapuskar, Kranti A.;
- Sho, Sei;
- Caster, Joseph M.;
- Allen, Bryan G.;
- Buettner, Garry R.;
- Spies, Maria;
- Goswami, Prabhat C.;
- Petronek, Michael S.;
- Spitz, Douglas R.
Publication type:
Article
BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 1, p. 40, doi. 10.1093/hmg/ddt394
By:
- Zhang, Yan;
- Seo, Seongjin;
- Bhattarai, Sajag;
- Bugge, Kevin;
- Searby, Charles C.;
- Zhang, Qihong;
- Drack, Arlene V.;
- Stone, Edwin M.;
- Sheffield, Val C.
Publication type:
Article
An open source and convenient method for the wide-spread testing of COVID-19 using deep throat sputum samples.
Published in:
PeerJ, 2022, p. 1, doi. 10.7717/peerj.13277
By:
- Huang, Sunny C.;
- Pak, Thomas K.;
- Graber, Cameron P.;
- Searby, Charles C.;
- Guanghao Liu;
- Marcy, Jennifer;
- Yaszemski, Alexandra K.;
- Bedell, Kurt;
- Bui, Emily;
- Perlman, Stanley;
- Qihong Zhang;
- Kai Wang;
- Sheffield, Val C.;
- Carter, Calvin S.
Publication type:
Article
The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome.
Published in:
PLoS Genetics, 2014, v. 10, n. 2, p. 1, doi. 10.1371/journal.pgen.1004083
By:
- Chamling, Xitiz;
- Seo, Seongjin;
- Searby, Charles C.;
- Kim, GunHee;
- Slusarski, Diane C.;
- Sheffield, Val C.
Publication type:
Article
A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened.
Published in:
PLoS Genetics, 2011, v. 7, n. 11, p. 1, doi. 10.1371/journal.pgen.1002358
By:
- Seongjin Seo;
- Qihong Zhang;
- Bugge, Kevin;
- Breslow, David K.;
- Searby, Charles C.;
- Nachury, Maxence V.;
- Sheffield, Val C.
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
Mice defective in Trpm6 show embryonic mortality and neural tube defects.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 22, p. 4367, doi. 10.1093/hmg/ddp392
By:
- Walder, Roxanne Y.;
- Yang, Baoli;
- Stokes, John B.;
- Kirby, Patricia A.;
- Cao, Xiao;
- Shi, Peijun;
- Searby, Charles C.;
- Husted, Russell F.;
- Sheffield, Val C.
Publication type:
Article
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 1956, doi. 10.1093/hmg/ddn093
By:
- Tayeh, Marwan K.;
- Yen, Hsan-Jan;
- Beck, John S.;
- Searby, Charles C.;
- Westfall, Trudi A.;
- Griesbach, Hilary;
- Sheffield, Val C.;
- Slusarski, Diane C.
Publication type:
Article
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 6, p. 609, doi. 10.1093/hmg/ddm001
By:
- Shepard, Allan R.;
- Jacobson, Nasreen;
- Millar, J. Cameron;
- Pang, Iok-Hou;
- Steely, H. Thomas;
- Searby, Charles C.;
- Sheffield, Val C.;
- Stone, Edwin M.;
- Clark, Abbot F.
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
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
Quantitative MRI Evaluation of Ferritin Overexpression in Non-Small-Cell Lung Cancer.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 4, p. 2398, doi. 10.3390/ijms25042398
By:
- Singhania, Mekhla;
- Zaher, Amira;
- Pulliam, Casey F.;
- Bayanbold, Khaliunaa;
- Searby, Charles C.;
- Schoenfeld, Joshua D.;
- Mapuskar, Kranti A.;
- Fath, Melissa A.;
- Allen, Bryan G.;
- Spitz, Douglas R.;
- Petronek, Michael S.
Publication type:
Article
ATF4 leads to glaucoma by promoting protein synthesis and ER client protein load.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19352-1
By:
- Kasetti, Ramesh B.;
- Patel, Pinkal D.;
- Maddineni, Prabhavathi;
- Patil, Shruti;
- Kiehlbauch, Charles;
- Millar, J. Cameron;
- Searby, Charles C.;
- Raghunathan, VijayKrishna;
- Sheffield, Val C.;
- Zode, Gulab S.
Publication type:
Article
A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8.
Published in:
1996
By:
- Ionasescu, Victor V.;
- Kimura, Jun;
- Searby, Charles C.;
- Smith, Wilbur L.;
- Ross, Mark A.;
- Ionasescu, Rebecca;
- Ionasescu, V V;
- Kimura, J;
- Searby, C C;
- Smith, W L Jr;
- Ross, M A;
- Ionasescu, R
Publication type:
journal article

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