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Literature citations Results

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

Nishimura D.Y., Swiderski R.E., Alward W.L.M., Searby C.C., Patil S.R., Bennet S.R., Kanis A.B., Gastier J.M., Stone E.M., Sheffield V.C.

Nat. Genet. 19:140-147(1998) · UniProtKB (1)

Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.

Kawase C., Kawase K., Taniguchi T., Sugiyama K., Yamamoto T., Kitazawa Y., Alward W.L., Stone E.M., Nishimura D.Y., Sheffield V.C.

J. Glaucoma 10:477-482(2001) · UniProtKB (1) · Mapped (3)

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

Nishimura D.Y., Searby C.C., Carmi R., Elbedour K., Van Maldergem L., Fulton A.B., Lam B.L., Powell B.R., Swiderski R.E., Bugge K.E. et al.

Hum. Mol. Genet. 10:865-874(2001) · UniProtKB (4) · Mapped (1)

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

Hjortshoj T.D., Gronskov K., Philp A.R., Nishimura D.Y., Adeyemo A., Rotimi C.N., Sheffield V.C., Rosenberg T., Brondum-Nielsen K.

Am. J. Med. Genet. A 146A:517-520(2008) · UniProtKB (1) · Mapped (2)

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.

Fath M.A., Mullins R.F., Searby C., Nishimura D.Y., Wei J., Rahmouni K., Davis R.E., Tayeh M.K., Andrews M., Yang B. et al.

Hum. Mol. Genet. 14:1109-1118(2005) · UniProtKB (1) · Mapped (2)

Linkage localization of TGFB2 and the human homeobox gene HLX1 to chromosome 1q.

Nishimura D.Y., Purchio A.F., Murray J.C.

Genomics 15:357-364(1993) · UniProtKB (2)

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.

Rahmouni K., Fath M.A., Seo S., Thedens D.R., Berry C.J., Weiss R., Nishimura D.Y., Sheffield V.C.

J. Clin. Invest. 118:1458-1467(2008) · UniProtKB (3) · Mapped (5)

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 (8)

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

Mykytyn K., Nishimura D.Y., Searby C.C., Shastri M., Yen H., Beck J.S., Braun T., Streb L.M., Cornier A.S., Cox G.F. et al.

Nat. Genet. 31:435-438(2002) · UniProtKB (1) · Mapped (3)

Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform.

Pretorius P.R., Baye L.M., Nishimura D.Y., Searby C.C., Bugge K., Yang B., Mullins R.F., Stone E.M., Sheffield V.C., Slusarski D.C.

PLoS Genet. 6:E1000884-E1000884(2010) · UniProtKB (3) · Mapped (6)

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

Chiang A.P., Beck J.S., Yen H.-J., Tayeh M.K., Scheetz T.E., Swiderski R.E., Nishimura D.Y., Braun T.A., Kim K.-Y.A., Huang J. et al.

Proc. Natl. Acad. Sci. U.S.A. 103:6287-6292(2006) · UniProtKB (1) · Mapped (3)

Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.

Smith R.S., Zabaleta A., Kume T., Savinova O.V., Kidson S.H., Martin J.E., Nishimura D.Y., Alward W.L., Hogan B.L., John S.W.

Hum. Mol. Genet. 9:1021-1032(2000) · Mapped (3)

Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.

Borges A.S., Susanna R. Jr., Carani J.C., Betinjane A.J., Alward W.L., Stone E.M., Sheffield V.C., Nishimura D.Y.

J. Glaucoma 11:51-56(2002) · Mapped (5)

Gene therapeutic reversal of peripheral olfactory impairment in Bardet-Biedl syndrome.

Williams C.L., Uytingco C.R., Green W.W., McIntyre J.C., Ukhanov K., Zimmerman A.D., Shively D.T., Zhang L., Nishimura D.Y., Sheffield V.C. et al.

Mol. Ther. 25:904-916(2017) · UniProtKB (1)

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

Swiderski R.E., Nishimura D.Y., Mullins R.F., Olvera M.A., Ross J.L., Huang J., Stone E.M., Sheffield V.C.

Invest. Ophthalmol. Vis. Sci. 48:3329-3340(2007) · Mapped (3)

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

Swiderski R.E., Reiter R.S., Nishimura D.Y., Alward W.L., Kalenak J.W., Searby C.S., Stone E.M., Sheffield V.C., Lin J.J.

Dev. Dyn. 216:16-27(1999) · Mapped (1)

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

Mykytyn K., Nishimura D.Y., Searby C.C., Beck G., Bugge K., Haines H.L., Cornier A.S., Cox G.F., Fulton A.B., Carmi R. et al.

Am. J. Hum. Genet. 72:429-437(2003) · UniProtKB (1) · Mapped (15)

Discovery and functional analysis of a retinitis pigmentosa gene, C2orf71.

Nishimura D.Y., Baye L.M., Perveen R., Searby C.C., Avila-Fernandez A., Pereiro I., Ayuso C., Valverde D., Bishop P.N., Manson F.D.C. et al.

Am. J. Hum. Genet. 86:686-695(2010) · UniProtKB (1) · Mapped (5)

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

Nishimura D.Y., Swiderski R.E., Searby C.C., Berg E.M., Ferguson A.L., Hennekam R.C.M., Merin S., Weleber R.G., Biesecker L.G., Stone E.M. et al.

Am. J. Hum. Genet. 77:1021-1033(2005) · UniProtKB (1) · Mapped (5)

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

Martinez-Glez V., Lorda-Sanchez I., Ramirez J.M., Ruiz-Barnes P., Rodriguez de Alba M., Diego-Alvarez D., Ramos C., Searby C.C., Nishimura D.Y., Ayuso C.

Eur J Med Genet 50:120-127(2007) · Mapped (4)

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

Hsu Y., Garrison J.E., Kim G., Schmitz A.R., Searby C.C., Zhang Q., Datta P., Nishimura D.Y., Seo S., Sheffield V.C.

PLoS Genet. 13:e1007057-e1007057(2017) · Mapped (2)

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

Nishimura D.Y., Fath M., Mullins R.F., Searby C., Andrews M., Davis R., Andorf J.L., Mykytyn K., Swiderski R.E., Yang B. et al.

Proc. Natl. Acad. Sci. U.S.A. 101:16588-16593(2004) · Mapped (15)

Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes.

Hjortshoj T.D., Gronskov K., Philp A.R., Nishimura D.Y., Riise R., Sheffield V.C., Rosenberg T., Brondum-Nielsen K.

Hum. Mutat. 31:429-436(2010) · UniProtKB (4)

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 (16)

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

Nishimura D.Y., Searby C.C., Alward W.L., Walton D., Craig J.E., Mackey D.A., Kawase K., Kanis A.B., Patil S.R., Stone E.M. et al.

Am. J. Hum. Genet. 68:364-372(2001) · UniProtKB (1)

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