170 related articles for article (PubMed ID: 37017267)
1. Dysfunction of programmed embryo senescence is linked to genetic developmental defects.
de Lope C; García-Lucena R; Magariños M; León Y; Casa-Rodríguez N; Contreras N; Escudero-Iriarte C; Varela-Nieto I; Maire P; Palmero I
Development; 2023 May; 150(9):. PubMed ID: 37017267
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome.
Patrick AN; Cabrera JH; Smith AL; Chen XS; Ford HL; Zhao R
Nat Struct Mol Biol; 2013 Apr; 20(4):447-53. PubMed ID: 23435380
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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. PubMed ID: 18330911
[TBL] [Abstract][Full Text] [Related]
7. Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development.
Shah AM; Krohn P; Baxi AB; Tavares ALP; Sullivan CH; Chillakuru YR; Majumdar HD; Neilson KM; Moody SA
Dis Model Mech; 2020 Mar; 13(3):. PubMed ID: 31980437
[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. 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]
10. 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. PubMed ID: 24730701
[TBL] [Abstract][Full Text] [Related]
11. Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear.
Zou D; Silvius D; Rodrigo-Blomqvist S; Enerbäck S; Xu PX
Dev Biol; 2006 Oct; 298(2):430-41. PubMed ID: 16916509
[TBL] [Abstract][Full Text] [Related]
12. 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; 8(6):e67236. PubMed ID: 23840632
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Sobp modulates the transcriptional activation of Six1 target genes and is required during craniofacial development.
Tavares ALP; Jourdeuil K; Neilson KM; Majumdar HD; Moody SA
Development; 2021 Sep; 148(17):. PubMed ID: 34414417
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8.
Schmidt T; Bierhals T; Kortüm F; Bartels I; Liehr T; Burfeind P; Shoukier M; Frank V; Bergmann C; Kutsche K
Cytogenet Genome Res; 2014; 142(1):1-6. PubMed ID: 24135068
[TBL] [Abstract][Full Text] [Related]
19. BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein.
Musharraf A; Kruspe D; Tomasch J; Besenbeck B; Englert C; Landgraf K
PLoS One; 2014; 9(1):e87407. PubMed ID: 24489909
[TBL] [Abstract][Full Text] [Related]
20. Eya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndrome.
Kalatzis V; Sahly I; El-Amraoui A; Petit C
Dev Dyn; 1998 Dec; 213(4):486-99. PubMed ID: 9853969
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
