1 - 25 of 131 results for author:"Sheffield V.C." in Literature citations
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| Abnormal development of NG2+PDGFR-alpha+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model. Carter C.S., Vogel T.W., Zhang Q., Seo S., Swiderski R.E., Moninger T.O., Cassell M.D., Thedens D.R., Keppler-Noreuil K.M., Nopoulos P. et al. Nat. Med. 18:1797-1804(2012) · Mapped (3) |
| ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. Humbert M.C., Weihbrecht K., Searby C.C., Li Y., Pope R.M., Sheffield V.C., Seo S. Proc. Natl. Acad. Sci. U.S.A. 109:19691-19696(2012) · Mapped (13) |
| Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. Mahajan V.B., Skeie J.M., Bassuk A.G., Fingert J.H., Braun T.A., Daggett H.T., Folk J.C., Sheffield V.C., Stone E.M. PLoS Genet. 8:e1003001-e1003001(2012) · Mapped (5) |
| Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. Zhang Q., Yu D., Seo S., Stone E.M., Sheffield V.C. J. Biol. Chem. 287:20625-20635(2012) · Mapped (25) |
| BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Zhang Q., Seo S., Bugge K., Stone E.M., Sheffield V.C. Hum. Mol. Genet. 21:1945-1953(2012) · Mapped (21) |
| Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism. Meyer K.J., Axelsen M.S., Sheffield V.C., Patil S.R., Wassink T.H. Psychiatr. Genet. 22:137-140(2012) · Mapped (5) |
| Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Zhang Q., Nishimura D., Seo S., Vogel T., Morgan D.A., Searby C., Bugge K., Stone E.M., Rahmouni K., Sheffield V.C. Proc. Natl. Acad. Sci. U.S.A. 108:20678-20683(2011) · Mapped (5) |
| TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice. Drack A.V., Dumitrescu A.V., Bhattarai S., Gratie D., Stone E.M., Mullins R., Sheffield V.C. Invest. Ophthalmol. Vis. Sci. 53:100-106(2012) · Mapped (3) |
| An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. Wright K.J., Baye L.M., Olivier-Mason A., Mukhopadhyay S., Sang L., Kwong M., Wang W., Pretorius P.R., Sheffield V.C., Sengupta P. et al. |
| A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V., Sheffield V.C. PLoS Genet. 7:e1002358-e1002358(2011) · Mapped (25) |
| Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Tucker B.A., Scheetz T.E., Mullins R.F., DeLuca A.P., Hoffmann J.M., Johnston R.M., Jacobson S.G., Sheffield V.C., Stone E.M. Proc. Natl. Acad. Sci. U.S.A. 108:E569-E576(2011) · UniProtKB (1) · Mapped (3) |
| Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Sang L., Miller J.J., Corbit K.C., Giles R.H., Brauer M.J., Otto E.A., Baye L.M., Wen X., Scales S.J., Kwong M. et al. |
| Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Mazor M., Alkrinawi S., Chalifa-Caspi V., Manor E., Sheffield V.C., Aviram M., Parvari R. Am. J. Hum. Genet. 88:599-607(2011) · UniProtKB (1) |
| Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Fingert J.H., Robin A.L., Stone J.L., Roos B.R., Davis L.K., Scheetz T.E., Bennett S.R., Wassink T.H., Kwon Y.H., Alward W.L. et al. Hum. Mol. Genet. 20:2482-2494(2011) · Mapped (2) |
| Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Pretorius P.R., Aldahmesh M.A., Alkuraya F.S., Sheffield V.C., Slusarski D.C. Hum. Mol. Genet. 20:1625-1632(2011) · Mapped (3) |
| Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome. Westlake C.J., Baye L.M., Nachury M.V., Wright K.J., Ervin K.E., Phu L., Chalouni C., Beck J.S., Kirkpatrick D.S., Slusarski D.C. et al. Proc. Natl. Acad. Sci. U.S.A. 108:2759-2764(2011) · Mapped (10) |
| The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. Baye L.M., Patrinostro X., Swaminathan S., Beck J.S., Zhang Y., Stone E.M., Sheffield V.C., Slusarski D.C. Hum. Mol. Genet. 20:1467-1477(2011) · Mapped (3) |
| Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Stone E.M., Cideciyan A.V., Aleman T.S., Scheetz T.E., Sumaroka A., Ehlinger M.A., Schwartz S.B., Fishman G.A., Traboulsi E.I., Lam B.L. et al. Arch. Ophthalmol. 129:81-87(2011) · Mapped (1) |
| Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12. Muhammad E., Leventhal N., Parvari G., Hanukoglu A., Hanukoglu I., Chalifa-Caspi V., Feinstein Y., Weinbrand J., Jacoby H., Manor E. et al. Hum. Genet. 129:397-405(2011) · Mapped (4) |
| Inactivation of Bardet-Biedl syndrome genes causes kidney defects. Guo D.F., Beyer A.M., Yang B., Nishimura D.Y., Sheffield V.C., Rahmouni K. Am. J. Physiol. Renal Physiol. 300:F574-80(2011) · Mapped (7) |
| Genome-wide analysis of copy number variants in age-related macular degeneration. Meyer K.J., Davis L.K., Schindler E.I., Beck J.S., Rudd D.S., Grundstad A.J., Scheetz T.E., Braun T.A., Fingert J.H., Alward W.L. et al. Hum. Genet. 129:91-100(2011) · Mapped (4) |
| Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes. Beyer A.M., Guo D.F., Sheffield V.C., Rahmouni K. Am. J. Physiol. Heart Circ. Physiol. 299:H1902-7(2010) · Mapped (5) |
| Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis. Shyy W., Wang K., Gurnett C.A., Dobbs M.B., Miller N.H., Wise C., Sheffield V.C., Morcuende J.A. J Pediatr Orthop 30:539-543(2010) · Mapped (8) |
| A genome-wide scan for common alleles affecting risk for autism. Anney R., Klei L., Pinto D., Regan R., Conroy J., Magalhaes T.R., Correia C., Abrahams B.S., Sykes N., Pagnamenta A.T. et al. Hum. Mol. Genet. 19:4072-4082(2010) · Mapped (14) |
| Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population. Schindler E.I., Nylen E.L., Ko A.C., Affatigato L.M., Heggen A.C., Wang K., Sheffield V.C., Stone E.M. Hum. Mol. Genet. 19:3693-3701(2010) · Mapped (8) |