Kevin Bugge

发表

BBS mutations modify phenotypic expression of CEP290-related ciliopathies.

V. Sheffield, E. Stone, A. Drack, 2014, Human molecular genetics.

A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened

V. Sheffield, D. Breslow, M. Nachury, 2011, PLoS genetics.

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

V. Sheffield, D. Morgan, K. Rahmouni, 2009, Human molecular genetics.

Abnormal development of NG2+PDGFRα+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

V. Sheffield, P. Nopoulos, D. Thedens, 2012, Nature Medicine.

Structural defects in cilia of the choroid plexus, subfornical organ and ventricular ependyma are associated with ventriculomegaly

R. Swiderski, M. Cassell, C. Yeaman, 2012, Fluids and Barriers of the CNS.

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

Michael G. Anderson, V. Sheffield, E. Stone, 2011, The Journal of clinical investigation.

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

V. Sheffield, E. Stone, Seongjin Seo, 2012, Human molecular genetics.

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

V. Sheffield, S. Jacobson, A. Fulton, 2003, American journal of human genetics.

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

Michael G. Anderson, V. Sheffield, E. Stone, 2015, The Journal of clinical investigation.

CRISPR-Cas9–based treatment of myocilin-associated glaucoma

V. Sheffield, F. Ran, Winston X. Yan, 2017, Proceedings of the National Academy of Sciences.

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

V. Sheffield, S. Jacobson, A. Fulton, 2001, Human molecular genetics.

UvA-DARE ( Digital Academic Repository ) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus ( BBS 1 )

V. Sheffield, S. Jacobson, A. Fulton, 2003 .

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

V. Sheffield, E. Stone, D. Morgan, 2011, Proceedings of the National Academy of Sciences.

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

V. Sheffield, E. Stone, R. Mullins, 2010, PLoS genetics.

Loss of Bardet–Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

V. Sheffield, M. Welsh, Alok S Shah, 2008, Proceedings of the National Academy of Sciences.

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

Val C. Sheffield, Edwin M. Stone, Darryl Nishimura, 2013, Journal of Cell Science.

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

Val C Sheffield, Abbot F Clark, V. Sheffield, 2014, The Journal of clinical investigation.