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Items: 1 to 20 of 174


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 May 24. pii: db181088. doi: 10.2337/db18-1088. [Epub ahead of print]


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 E, Ochoa D, Reutzel AJ, Collins MM, Sheffield V, Mullins RF, Han IC, Stone E, Tucker BA.

Hum Gene Ther. 2019 May 20. doi: 10.1089/hum.2018.244. [Epub ahead of print]


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.

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