Literature DB >> 14696767

Branchio-oto-renal syndrome.

Juan Rodríguez Soriano1.   

Abstract

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss and renal anomalies. Mutations in the EYA1 gene, a human homologue of the drosophila "eyes absent" gene, are identified as the cause of BOR syndrome.

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Year:  2003        PMID： 14696767

Source DB:  PubMed          Journal:  J Nephrol        ISSN： 1121-8428            Impact factor:   3.902


  8 in total

Review 1.  Transcriptional regulation of cranial sensory placode development.

Authors:  Sally A Moody; Anthony-Samuel LaMantia
Journal:  Curr Top Dev Biol       Date:  2015-01-22       Impact factor: 4.897

Review 2.  Genetic Advances in the Understanding of Microtia.

Authors:  Craig Gendron; Ann Schwentker; John A van Aalst
Journal:  J Pediatr Genet       Date:  2016-09-23

3.  Microarray identification of novel genes downstream of Six1, a critical factor in cranial placode, somite, and kidney development.

Authors:  Bo Yan; Karen M Neilson; Ramya Ranganathan; Thomas Maynard; Andrea Streit; Sally A Moody
Journal:  Dev Dyn       Date:  2014-12-16       Impact factor: 3.780

Review 4.  Microtia: epidemiology and genetics.

Authors:  Daniela V Luquetti; Carrie L Heike; Anne V Hing; Michael L Cunningham; Timothy C Cox
Journal:  Am J Med Genet A       Date:  2011-11-21       Impact factor: 2.802

5.  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.

Authors:  Mousumi Mutsuddi; Benjamin Chaffee; Justin Cassidy; Serena J Silver; Tina L Tootle; Ilaria Rebay
Journal:  Genetics       Date:  2005-03-31       Impact factor: 4.562

6.  Anatomic and Quantitative Temporal Bone CT for Preoperative Assessment of Branchio-Oto-Renal Syndrome.

Authors:  D T Ginat; L Ferro; M B Gluth
Journal:  Clin Neuroradiol       Date:  2016-02-11       Impact factor: 3.649

7.  Developmental expression patterns of candidate cofactors for vertebrate six family transcription factors.

Authors:  Karen M Neilson; Francesca Pignoni; Bo Yan; Sally A Moody
Journal:  Dev Dyn       Date:  2010-12       Impact factor: 3.780

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

Authors:  Michiyo Okada; Rika Fujimaru; Noriko Morimoto; Kenichi Satomura; Yoshikazu Kaku; Kazuo Tsuzuki; Kandai Nozu; Torayuki Okuyama; Kazumoto Iijima
Journal:  Pediatr Nephrol       Date:  2006-02-21       Impact factor: 3.714
  8 in total

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