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Items: 1 to 20 of 172

1.

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F.

Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. Epub 2004 May 12.

2.

Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome.

Buller C, Xu X, Marquis V, Schwanke R, Xu PX.

Hum Mol Genet. 2001 Nov 15;10(24):2775-81.

PMID:
11734542
3.

Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.

Patrick AN, Schiemann BJ, Yang K, Zhao R, Ford HL.

J Biol Chem. 2009 Jul 31;284(31):20781-90. doi: 10.1074/jbc.M109.016832. Epub 2009 Jun 4.

4.

Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.

Song MH, Kwon TJ, Kim HR, Jeon JH, Baek JI, Lee WS, Kim UK, Choi JY.

PLoS One. 2013 Jun 28;8(6):e67236. doi: 10.1371/journal.pone.0067236. Print 2013.

5.

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

Kochhar A, Orten DJ, Sorensen JL, Fischer SM, Cremers CW, Kimberling WJ, Smith RJ.

Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20714.

PMID:
18330911
6.

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebjaerg L.

Eur J Hum Genet. 2007 Nov;15(11):1121-31. Epub 2007 Jul 18.

7.

Branchio-oto-renal syndrome.

Kochhar A, Fischer SM, Kimberling WJ, Smith RJ.

Am J Med Genet A. 2007 Jul 15;143A(14):1671-8. Review.

PMID:
17238186
8.

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F.

Am J Hum Genet. 2007 Apr;80(4):800-4. Epub 2007 Feb 22.

9.

BOR and BO syndromes are allelic defects of EYA1.

Vincent C, Kalatzis V, Abdelhak S, Chaib H, Compain S, Helias J, Vaneecloo FM, Petit C.

Eur J Hum Genet. 1997 Jul-Aug;5(4):242-6.

PMID:
9359046
10.

Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia.

Xu PX, Adams J, Peters H, Brown MC, Heaney S, Maas R.

Nat Genet. 1999 Sep;23(1):113-7.

PMID:
10471511
11.

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, Colin E, Bonneau D, Salomon R, Antignac C, Heidet L.

Hum Mutat. 2011 Feb;32(2):183-90. doi: 10.1002/humu.21402.

PMID:
21280147
12.

Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.

Wang SH, Wu CC, Lu YC, Lin YH, Su YN, Hwu WL, Yu IS, Hsu CJ.

Laryngoscope. 2012 May;122(5):1130-6. doi: 10.1002/lary.23217. Epub 2012 Mar 23.

PMID:
22447252
13.

A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred.

Clarke JC, Honey EM, Bekker E, Snyman LC, Raymond RM Jr, Lord C, Brophy PD.

Clin Genet. 2006 Jul;70(1):63-7.

14.

EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis.

Li Y, Manaligod JM, Weeks DL.

Biol Cell. 2010 Feb 17;102(5):277-92. doi: 10.1042/BC20090098.

15.

EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions.

Okada M, Fujimaru R, Morimoto N, Satomura K, Kaku Y, Tsuzuki K, Nozu K, Okuyama T, Iijima K.

Pediatr Nephrol. 2006 Apr;21(4):475-81. Epub 2006 Feb 21.

PMID:
16491411
16.

Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.

Kumar S, Kimberling WJ, Weston MD, Schaefer BG, Berg MA, Marres HA, Cremers CW.

Hum Mutat. 1998;11(6):443-9.

PMID:
9603436
17.

Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.

Rodríguez-Soriano J, Vallo A, Bilbao JR, Castaño L.

Pediatr Nephrol. 2001 Jul;16(7):550-3.

PMID:
11465802
18.

A family affected by branchio-oto syndrome with EYA1 mutations.

Fukuda S, Kuroda T, Chida E, Shimizu R, Usami S, Koda E, Abe S, Namba A, Kitamura K, Inuyama Y.

Auris Nasus Larynx. 2001 May;28 Suppl:S7-11.

PMID:
11683347
19.

A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10.

Zhang Y, Knosp BM, Maconochie M, Friedman RA, Smith RJ.

J Assoc Res Otolaryngol. 2004 Sep;5(3):295-304. Epub 2004 Jun 24.

20.

Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan.

Morisada N, Nozu K, Iijima K.

Pediatr Int. 2014 Jun;56(3):309-14. doi: 10.1111/ped.12357. Review.

PMID:
24730701

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