These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
193 related articles for article (PubMed ID: 11950062)
1. Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins. Ozaki H; Watanabe Y; Ikeda K; Kawakami K J Hum Genet; 2002; 47(3):107-16. PubMed ID: 11950062 [TBL] [Abstract][Full Text] [Related]
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; 10(24):2775-81. PubMed ID: 11734542 [TBL] [Abstract][Full Text] [Related]
3. Using Drosophila to decipher how mutations associated with human branchio-oto-renal syndrome and optical defects compromise the protein tyrosine phosphatase and transcriptional functions of eyes absent. Mutsuddi M; Chaffee B; Cassidy J; Silver SJ; Tootle TL; Rebay I Genetics; 2005 Jun; 170(2):687-95. PubMed ID: 15802522 [TBL] [Abstract][Full Text] [Related]
4. 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; 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; 101(21):8090-5. PubMed ID: 15141091 [TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 21280147 [TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 17357085 [TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 15492887 [TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 10471511 [TBL] [Abstract][Full Text] [Related]
9. Branchio-oto-renal syndrome. Kochhar A; Fischer SM; Kimberling WJ; Smith RJ Am J Med Genet A; 2007 Jul; 143A(14):1671-8. PubMed ID: 17238186 [TBL] [Abstract][Full Text] [Related]
10. 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; 284(31):20781-90. PubMed ID: 19497856 [TBL] [Abstract][Full Text] [Related]
11. Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. Rayapureddi JP; Hegde RS FEBS Lett; 2006 Jul; 580(16):3853-9. PubMed ID: 16797546 [TBL] [Abstract][Full Text] [Related]
12. Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Orten DJ; Fischer SM; Sorensen JL; Radhakrishna U; Cremers CW; Marres HA; Van Camp G; Welch KO; Smith RJ; Kimberling WJ Hum Mutat; 2008 Apr; 29(4):537-44. PubMed ID: 18220287 [TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 9603436 [TBL] [Abstract][Full Text] [Related]
14. Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay. Migliosi V; Flex E; Guida V; Martini A; Giarbini N; Markova T; Torrente I; Dallapiccola B Clin Genet; 2004 Nov; 66(5):478-80. PubMed ID: 15479196 [No Abstract] [Full Text] [Related]
15. 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. PubMed ID: 22447252 [TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 11683347 [TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 17637804 [TBL] [Abstract][Full Text] [Related]
18. Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. Lin AE; Semina EV; Daack-Hirsch S; Roeder ER; Curry CJ; Rosenbaum K; Weaver DD; Murray JC Am J Med Genet; 2000 Apr; 91(5):387-90. PubMed ID: 10767004 [TBL] [Abstract][Full Text] [Related]
19. 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; 102(5):277-92. PubMed ID: 19951260 [TBL] [Abstract][Full Text] [Related]
20. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Chang EH; Menezes M; Meyer NC; Cucci RA; Vervoort VS; Schwartz CE; Smith RJ Hum Mutat; 2004 Jun; 23(6):582-9. PubMed ID: 15146463 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]