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Items: 33


A mutation in the mouse ttc26 gene leads to impaired hedgehog signaling.

Swiderski RE, Nakano Y, Mullins RF, Seo S, Bánfi B.

PLoS Genet. 2014 Oct 23;10(10):e1004689. doi: 10.1371/journal.pgen.1004689. eCollection 2014 Oct.


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.


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

Swiderski RE, Agassandian K, Ross JL, Bugge K, Cassell MD, Yeaman C.

Fluids Barriers CNS. 2012 Oct 9;9(1):22. doi: 10.1186/2045-8118-9-22.


A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.

Davis RE, Swiderski RE, Rahmouni K, Nishimura DY, Mullins RF, Agassandian K, Philp AR, Searby CC, Andrews MP, Thompson S, Berry CJ, Thedens DR, Yang B, Weiss RM, Cassell MD, Stone EM, Sheffield VC.

Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19422-7. Epub 2007 Nov 21.


Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage.

Swiderski RE, Nishimura DY, Mullins RF, Olvera MA, Ross JL, Huang J, Stone EM, Sheffield VC.

Invest Ophthalmol Vis Sci. 2007 Jul;48(7):3329-40.


Regulation of gene expression in the mammalian eye and its relevance to eye disease.

Scheetz TE, Kim KY, Swiderski RE, Philp AR, Braun TA, Knudtson KL, Dorrance AM, DiBona GF, Huang J, Casavant TL, Sheffield VC, Stone EM.

Proc Natl Acad Sci U S A. 2006 Sep 26;103(39):14429-34. Epub 2006 Sep 18.


Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).

Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, Sheffield VC.

Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6287-92. Epub 2006 Apr 10.


Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC.

Am J Hum Genet. 2005 Dec;77(6):1021-33. Epub 2005 Oct 26.


Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.

Nishimura DY, Fath M, Mullins RF, Searby C, Andrews M, Davis R, Andorf JL, Mykytyn K, Swiderski RE, Yang B, Carmi R, Stone EM, Sheffield VC.

Proc Natl Acad Sci U S A. 2004 Nov 23;101(47):16588-93. Epub 2004 Nov 11.


Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.

Mykytyn K, Mullins RF, Andrews M, Chiang AP, Swiderski RE, Yang B, Braun T, Casavant T, Stone EM, Sheffield VC.

Proc Natl Acad Sci U S A. 2004 Jun 8;101(23):8664-9. Epub 2004 Jun 1.


A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.

Honkanen RA, Nishimura DY, Swiderski RE, Bennett SR, Hong S, Kwon YH, Stone EM, Sheffield VC, Alward WL.

Am J Ophthalmol. 2003 Mar;135(3):368-75.


Evidence supporting WNT2 as an autism susceptibility gene.

Wassink TH, Piven J, Vieland VJ, Huang J, Swiderski RE, Pietila J, Braun T, Beck G, Folstein SE, Haines JL, Sheffield VC.

Am J Med Genet. 2001 Jul 8;105(5):406-13.


Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues.

Clark AF, Steely HT, Dickerson JE Jr, English-Wright S, Stropki K, McCartney MD, Jacobson N, Shepard AR, Clark JI, Matsushima H, Peskind ER, Leverenz JB, Wilkinson CW, Swiderski RE, Fingert JH, Sheffield VC, Stone EM.

Invest Ophthalmol Vis Sci. 2001 Jul;42(8):1769-80.


Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head.

Clark AF, Kawase K, English-Wright S, Lane D, Steely HT, Yamamoto T, Kitazawa Y, Kwon YH, Fingert JH, Swiderski RE, Mullins RF, Hageman GS, Alward WL, Sheffield VC, Stone EM.

FASEB J. 2001 May;15(7):1251-3. No abstract available.


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

Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC.

Hum Mol Genet. 2001 Apr 1;10(8):865-74.


Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization.

Swiderski RE, Ross JL, Fingert JH, Clark AF, Alward WL, Stone EM, Sheffield VC.

Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3420-8.


Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2.

Scott DA, Drury S, Sundstrom RA, Bishop J, Swiderski RE, Carmi R, Ramesh A, Elbedour K, Srikumari Srisailapathy CR, Keats BJ, Sheffield VC, Smith RJ.

Gene. 2000 Apr 4;246(1-2):265-74.


Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects.

Swiderski RE, Reiter RS, Nishimura DY, Alward WL, Kalenak JW, Searby CS, Stone EM, Sheffield VC, Lin JJ.

Dev Dyn. 1999 Sep;216(1):16-27.


The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23.

Gorman SW, Haider NB, Grieshammer U, Swiderski RE, Kim E, Welch JW, Searby C, Leng S, Carmi R, Sheffield VC, Duhl DM.

Genomics. 1999 Jul 15;59(2):150-60.


A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.

Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF.

Nat Genet. 1999 Jun;22(2):199-202.


Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain.

Swiderski RE, Ying L, Cassell MD, Alward WL, Stone EM, Sheffield VC.

Brain Res Mol Brain Res. 1999 May 7;68(1-2):64-72.


Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19.

Scott DA, Greinwald JH Jr, Marietta JR, Drury S, Swiderski RE, Viñas A, DeAngelis MM, Carmi R, Ramesh A, Kraft ML, Elbedour K, Skworak AB, Friedman RA, Srikumari Srisailapathy CR, Verhoeven K, Van Gamp G, Lovett M, Deininger PL, Batzer MA, Morton CC, Keats BJ, Smith RJ, Sheffield VC.

Gene. 1998 Jul 30;215(2):461-9.


Characterization and comparison of the human and mouse GLC1A glaucoma genes.

Fingert JH, Ying L, Swiderski RE, Nystuen AM, Arbour NC, Alward WL, Sheffield VC, Stone EM.

Genome Res. 1998 Apr;8(4):377-84.


The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC.

Nat Genet. 1998 Jun;19(2):140-7.


Differential expression of extracellular matrix remodeling genes in a murine model of bleomycin-induced pulmonary fibrosis.

Swiderski RE, Dencoff JE, Floerchinger CS, Shapiro SD, Hunninghake GW.

Am J Pathol. 1998 Mar;152(3):821-8.


Type II collagen is transiently expressed during avian cardiac valve morphogenesis.

Swiderski RE, Daniels KJ, Jensen KL, Solursh M.

Dev Dyn. 1994 Aug;200(4):294-304.


Photocrosslinking of proteins to maternal mRNA in Xenopus oocytes.

Swiderski RE, Richter JD.

Dev Biol. 1988 Aug;128(2):349-58.


Differential induction of dopa decarboxylase activity by 20-OH ecdysone in sublines of the Drosophila Kc cell line.

Swiderski RE, O'Connor JD.

Prog Clin Biol Res. 1986;217A:235-8. No abstract available.


Sequential Sepharose chromatographic isolation of polysomes and polysomal RNAs depleted in nuclear RNA from Xenopus.

Swiderski RE, Johnson SA, Larkins BA, Graham DE.

Nucleic Acids Res. 1979 Aug 10;6(11):3685-701.

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