Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 315


Disulfiram causes selective hypoxic cancer cell toxicity and radio-chemo-sensitization via redox cycling of copper.

Falls-Hubert KC, Butler AL, Gui K, Anderson M, Li M, Stolwijk JM, Rodman SN 3rd, Solst SR, Tomanek-Chalkley A, Searby CC, Sheffield VC, Sandfort V, Schmidt H, McCormick ML, Wels BR, Allen BG, Buettner GR, Schultz MK, Spitz DR.

Free Radic Biol Med. 2020 Feb 4;150:1-11. doi: 10.1016/j.freeradbiomed.2020.01.186. [Epub ahead of print]


The BBSome in POMC and AgRP Neurons Is Necessary for Body Weight Regulation and Sorting of Metabolic Receptors.

Guo DF, Lin Z, Wu Y, Searby C, Thedens DR, Richerson GB, Usachev YM, Grobe JL, Sheffield VC, Rahmouni K.

Diabetes. 2019 Aug;68(8):1591-1603. doi: 10.2337/db18-1088. Epub 2019 May 24.


Development of a Molecularly Stable Gene Therapy Vector for the Treatment of RPGR-Associated X-Linked Retinitis Pigmentosa.

Giacalone JC, Andorf JL, Zhang Q, Burnight ER, Ochoa D, Reutzel AJ, Collins MM, Sheffield VC, Mullins RF, Han IC, Stone EM, Tucker BA.

Hum Gene Ther. 2019 Aug;30(8):967-974. doi: 10.1089/hum.2018.244.


Absence of BBSome function leads to astrocyte reactivity in the brain.

Singh M, Garrison JE, Wang K, Sheffield VC.

Mol Brain. 2019 May 9;12(1):48. doi: 10.1186/s13041-019-0466-z.


BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia.

Uytingco CR, Williams CL, Xie C, Shively DT, Green WW, Ukhanov K, Zhang L, Nishimura DY, Sheffield VC, Martens JR.

J Cell Sci. 2019 Feb 15;132(5). pii: jcs222331. doi: 10.1242/jcs.222331.


Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.

Zhang Q, Giacalone JC, Searby C, Stone EM, Tucker BA, Sheffield VC.

Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1353-1360. doi: 10.1073/pnas.1817639116. Epub 2019 Jan 8.


A 30-Mile-per-Hour Headwind.

Sheffield VC.

JAMA. 2018 Jul 3;320(1):33-34. doi: 10.1001/jama.2018.8191. No abstract available.


Osteoarthritis-Like Changes in Bardet-Biedl Syndrome Mutant Ciliopathy Mice (Bbs1M390R/M390R): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation.

Sheffield ID, McGee MA, Glenn SJ, Baek DY, Coleman JM, Dorius BK, Williams C, Rose BJ, Sanchez AE, Goodman MA, Daines JM, Eggett DL, Sheffield VC, Suli A, Kooyman DL.

Front Physiol. 2018 Jun 19;9:708. doi: 10.3389/fphys.2018.00708. eCollection 2018.


Transforming growth factor β2 (TGFβ2) signaling plays a key role in glucocorticoid-induced ocular hypertension.

Kasetti RB, Maddineni P, Patel PD, Searby C, Sheffield VC, Zode GS.

J Biol Chem. 2018 Jun 22;293(25):9854-9868. doi: 10.1074/jbc.RA118.002540. Epub 2018 May 9.


Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.

Weihbrecht K, Goar WA, Pak T, Garrison JE, DeLuca AP, Stone EM, Scheetz TE, Sheffield VC.

Med Res Arch. 2017 Sep;5(9). doi: 10.18103/mra.v5i9.1526. Epub 2017 Sep 18.


Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.

Weihbrecht K, Goar WA, Carter CS, Sheffield VC, Seo S.

PLoS One. 2018 Feb 14;13(2):e0192755. doi: 10.1371/journal.pone.0192755. eCollection 2018.


BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment.

Hsu Y, Garrison JE, Kim G, Schmitz AR, Searby CC, Zhang Q, Datta P, Nishimura DY, Seo S, Sheffield VC.

PLoS Genet. 2017 Oct 19;13(10):e1007057. doi: 10.1371/journal.pgen.1007057. eCollection 2017 Oct.


CRISPR-Cas9-based treatment of myocilin-associated glaucoma.

Jain A, Zode G, Kasetti RB, Ran FA, Yan W, Sharma TP, Bugge K, Searby CC, Fingert JH, Zhang F, Clark AF, Sheffield VC.

Proc Natl Acad Sci U S A. 2017 Oct 17;114(42):11199-11204. doi: 10.1073/pnas.1706193114. Epub 2017 Oct 2.


The molecular genetics of eye diseases.

Haines JL, Sheffield VC.

Hum Mol Genet. 2017 Aug 1;26(R1):R1. doi: 10.1093/hmg/ddx222. No abstract available.


Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.

Scott CA, Marsden AN, Rebagliati MR, Zhang Q, Chamling X, Searby CC, Baye LM, Sheffield VC, Slusarski DC.

PLoS Genet. 2017 Jul 28;13(7):e1006936. doi: 10.1371/journal.pgen.1006936. eCollection 2017 Jul.


Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA.

Ophthalmology. 2017 Sep;124(9):1314-1331. doi: 10.1016/j.ophtha.2017.04.008. Epub 2017 May 27.


Mutation in TDRD9 causes non-obstructive azoospermia in infertile men.

Arafat M, Har-Vardi I, Harlev A, Levitas E, Zeadna A, Abofoul-Azab M, Dyomin V, Sheffield VC, Lunenfeld E, Huleihel M, Parvari R.

J Med Genet. 2017 Sep;54(9):633-639. doi: 10.1136/jmedgenet-2017-104514. Epub 2017 May 23.


Restoration of Aqueous Humor Outflow Following Transplantation of iPSC-Derived Trabecular Meshwork Cells in a Transgenic Mouse Model of Glaucoma.

Zhu W, Jain A, Gramlich OW, Tucker BA, Sheffield VC, Kuehn MH.

Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2054-2062. doi: 10.1167/iovs.16-20672.


Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome.

Williams CL, Uytingco CR, Green WW, McIntyre JC, Ukhanov K, Zimmerman AD, Shively DT, Zhang L, Nishimura DY, Sheffield VC, Martens JR.

Mol Ther. 2017 Apr 5;25(4):904-916. doi: 10.1016/j.ymthe.2017.02.006. Epub 2017 Feb 22.


Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).

Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC.

Hum Mol Genet. 2016 Jun 1;25(11):2283-2294. Epub 2016 Mar 22.


Transplantation of iPSC-derived TM cells rescues glaucoma phenotypes in vivo.

Zhu W, Gramlich OW, Laboissonniere L, Jain A, Sheffield VC, Trimarchi JM, Tucker BA, Kuehn MH.

Proc Natl Acad Sci U S A. 2016 Jun 21;113(25):E3492-500. doi: 10.1073/pnas.1604153113. Epub 2016 Jun 6.


Bardet-Biedl syndrome 3 regulates the development of cranial base midline structures.

Kawasaki M, Izu Y, Hayata T, Ideno H, Nifuji A, Sheffield VC, Ezura Y, Noda M.

Bone. 2017 Aug;101:179-190. doi: 10.1016/j.bone.2016.02.017. Epub 2016 May 8.


A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

Reish O, Aspit L, Zouella A, Roth Y, Polak-Charcon S, Baboushkin T, Benyamini L, Scheetz TE, Mussaffi H, Sheffield VC, Parvari R.

Hum Mutat. 2016 Aug;37(8):727-31. doi: 10.1002/humu.22998. Epub 2016 May 9.


The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane.

Guo DF, Cui H, Zhang Q, Morgan DA, Thedens DR, Nishimura D, Grobe JL, Sheffield VC, Rahmouni K.

PLoS Genet. 2016 Feb 29;12(2):e1005890. doi: 10.1371/journal.pgen.1005890. eCollection 2016 Feb.


PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.

Muhammad E, Levitas A, Singh SR, Braiman A, Ofir R, Etzion S, Sheffield VC, Etzion Y, Carrier L, Parvari R.

Hum Mol Genet. 2015 Dec 20;24(25):7227-40. doi: 10.1093/hmg/ddv423. Epub 2015 Oct 12.


Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function.

Haziza S, Magnani R, Lan D, Keinan O, Saada A, Hershkovitz E, Yanay N, Cohen Y, Nevo Y, Houtz RL, Sheffield VC, Golan H, Parvari R.

PLoS Genet. 2015 Aug 6;11(8):e1005388. doi: 10.1371/journal.pgen.1005388. eCollection 2015 Aug.


Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.

Zode GS, Kuehn MH, Nishimura DY, Searby CC, Mohan K, Grozdanic SD, Bugge K, Anderson MG, Clark AF, Stone EM, Sheffield VC.

J Clin Invest. 2015 Aug 3;125(8):3303. doi: 10.1172/JCI82799. Epub 2015 Aug 3. No abstract available.


Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.

Datta P, Allamargot C, Hudson JS, Andersen EK, Bhattarai S, Drack AV, Sheffield VC, Seo S.

Proc Natl Acad Sci U S A. 2015 Aug 11;112(32):E4400-9. doi: 10.1073/pnas.1510111112. Epub 2015 Jul 27.


Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.

Starks RD, Beyer AM, Guo DF, Boland L, Zhang Q, Sheffield VC, Rahmouni K.

PLoS Genet. 2015 Jun 23;11(6):e1005311. doi: 10.1371/journal.pgen.1005311. eCollection 2015 Jun.


Rat, mouse, and primate models of chronic glaucoma show sustained elevation of extracellular ATP and altered purinergic signaling in the posterior eye.

Lu W, Hu H, Sévigny J, Gabelt BT, Kaufman PL, Johnson EC, Morrison JC, Zode GS, Sheffield VC, Zhang X, Laties AM, Mitchell CH.

Invest Ophthalmol Vis Sci. 2015 May;56(5):3075-83. doi: 10.1167/iovs.14-15891.


CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays.

Goodman CW, Major HJ, Walls WD, Sheffield VC, Casavant TL, Darbro BW.

J Biomed Inform. 2015 Apr;54:106-13. doi: 10.1016/j.jbi.2015.01.001. Epub 2015 Jan 13.


Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.

Mei X, Westfall TA, Zhang Q, Sheffield VC, Bassuk AG, Slusarski DC.

Dev Biol. 2014 Aug 15;392(2):245-55. doi: 10.1016/j.ydbio.2014.05.020. Epub 2014 Jun 2.


Mechanosensitive release of adenosine 5'-triphosphate through pannexin channels and mechanosensitive upregulation of pannexin channels in optic nerve head astrocytes: a mechanism for purinergic involvement in chronic strain.

Beckel JM, Argall AJ, Lim JC, Xia J, Lu W, Coffey EE, Macarak EJ, Shahidullah M, Delamere NA, Zode GS, Sheffield VC, Shestopalov VI, Laties AM, Mitchell CH.

Glia. 2014 Sep;62(9):1486-501. doi: 10.1002/glia.22695. Epub 2014 May 19.


Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model.

Agassandian K, Patel M, Agassandian M, Steren KE, Rahmouni K, Sheffield VC, Card JP.

PLoS One. 2014 Apr 2;9(4):e93484. doi: 10.1371/journal.pone.0093484. eCollection 2014.


Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma.

Zode GS, Sharma AB, Lin X, Searby CC, Bugge K, Kim GH, Clark AF, Sheffield VC.

J Clin Invest. 2014 May;124(5):1956-65. Epub 2014 Apr 1.


An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.


The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.

Chamling X, Seo S, Searby CC, Kim G, Slusarski DC, Sheffield VC.

PLoS Genet. 2014 Feb 13;10(2):e1004083. doi: 10.1371/journal.pgen.1004083. eCollection 2014 Feb.


Author reply: To PMID 22944025.

Stone EM, Aldave AJ, Drack AV, MacCumber MW, Sheffield VC, Traboulsi E, Weleber RG.

Ophthalmology. 2013 Oct;120(10):e73. doi: 10.1016/j.ophtha.2013.07.008. No abstract available.


BBS mutations modify phenotypic expression of CEP290-related ciliopathies.

Zhang Y, Seo S, Bhattarai S, Bugge K, Searby CC, Zhang Q, Drack AV, Stone EM, Sheffield VC.

Hum Mol Genet. 2014 Jan 1;23(1):40-51. doi: 10.1093/hmg/ddt394. Epub 2013 Aug 13.


Congenital myopathy is caused by mutation of HACD1.

Muhammad E, Reish O, Ohno Y, Scheetz T, Deluca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R.

Hum Mol Genet. 2013 Dec 20;22(25):5229-36. doi: 10.1093/hmg/ddt380. Epub 2013 Aug 9.


Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

Braun TA, Mullins RF, Wagner AH, Andorf JL, Johnston RM, Bakall BB, Deluca AP, Fishman GA, Lam BL, Weleber RG, Cideciyan AV, Jacobson SG, Sheffield VC, Tucker BA, Stone EM.

Hum Mol Genet. 2013 Dec 20;22(25):5136-45. doi: 10.1093/hmg/ddt367. Epub 2013 Aug 4.


BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.

Zhang Q, Nishimura D, Vogel T, Shao J, Swiderski R, Yin T, Searby C, Carter CS, Kim G, Bugge K, Stone EM, Sheffield VC.

J Cell Sci. 2013 Jun 1;126(Pt 11):2372-80. doi: 10.1242/jcs.111740. Epub 2013 Apr 9.


Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.

Chamling X, Seo S, Bugge K, Searby C, Guo DF, Drack AV, Rahmouni K, Sheffield VC.

PLoS One. 2013;8(3):e59101. doi: 10.1371/journal.pone.0059101. Epub 2013 Mar 15.


A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci.

Scheetz TE, Fingert JH, Wang K, Kuehn MH, Knudtson KL, Alward WL, Boldt HC, Russell SR, Folk JC, Casavant TL, Braun TA, Clark AF, Stone EM, Sheffield VC.

PLoS One. 2013;8(3):e58657. doi: 10.1371/journal.pone.0058657. Epub 2013 Mar 11.


Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.

Tee MK, Abramsohn M, Loewenthal N, Harris M, Siwach S, Kaplinsky A, Markus B, Birk O, Sheffield VC, Parvari R, Hershkovitz E, Miller WL.

J Clin Endocrinol Metab. 2013 Feb;98(2):713-20. doi: 10.1210/jc.2012-2828. Epub 2013 Jan 21. Erratum in: J Clin Endocrinol Metab. 2013 Oct;98(10):4213. Pavari, Ruti [corrected to Parvari, Ruti].


Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model.

Carter CS, Vogel TW, Zhang Q, Seo S, Swiderski RE, Moninger TO, Cassell MD, Thedens DR, Keppler-Noreuil KM, Nopoulos P, Nishimura DY, Searby CC, Bugge K, Sheffield VC.

Nat Med. 2012 Dec;18(12):1797-804. doi: 10.1038/nm.2996. Epub 2012 Nov 18.


ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.

Humbert MC, Weihbrecht K, Searby CC, Li Y, Pope RM, Sheffield VC, Seo S.

Proc Natl Acad Sci U S A. 2012 Nov 27;109(48):19691-6. doi: 10.1073/pnas.1210916109. Epub 2012 Nov 12.


Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.

Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, Folk JC, Sheffield VC, Stone EM.

PLoS Genet. 2012;8(10):e1003001. doi: 10.1371/journal.pgen.1003001. Epub 2012 Oct 4.


Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing.

Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, Weleber RG.

Ophthalmology. 2012 Nov;119(11):2408-10. doi: 10.1016/j.ophtha.2012.05.047. Epub 2012 Sep 1.


Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.

Cox KF, Kerr NC, Kedrov M, Nishimura D, Jennings BJ, Stone EM, Sheffield VC, Iannaccone A.

Vision Res. 2012 Dec 15;75:77-87. doi: 10.1016/j.visres.2012.08.005. Epub 2012 Aug 24.

Supplemental Content

Loading ...
Support Center