Literature DB >> 12843324

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.

R G Ruf, J Berkman, M T F Wolf, P Nurnberg, M Gattas, E-M Ruf, V Hyland, J Kromberg, I Glass, J Macmillan, E Otto, G Nurnberg, B Lucke, H C Hennies, F Hildebrandt.   

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Year:  2003        PMID： 12843324      PMCID： PMC1735534          DOI： 10.1136/jmg.40.7.515

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  20 in total

Review 1.  Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans.

Authors:  Asaf Vivante; Stefan Kohl; Daw-Yang Hwang; Gabriel C Dworschak; Friedhelm Hildebrandt
Journal:  Pediatr Nephrol       Date:  2014-01-08       Impact factor: 3.714

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.  Balancing cell numbers during organogenesis: Six1a differentially affects neurons and sensory hair cells in the inner ear.

Authors:  Olivier Bricaud; Andres Collazo
Journal:  Dev Biol       Date:  2011-07-02       Impact factor: 3.582

4.  Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.

Authors:  Patrick D Brophy; Fatemeh Alasti; Benjamin W Darbro; Jason Clarke; Carla Nishimura; Bryan Cobb; Richard J Smith; J Robert Manak
Journal:  Hum Genet       Date:  2013-07-13       Impact factor: 4.132

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

Authors:  Bethan E Hoskins; Carl H Cramer; Derek Silvius; Dan Zou; Richard M Raymond; Dana J Orten; William J Kimberling; Richard J H Smith; Dominique Weil; Christine Petit; Edgar A Otto; Pin-Xian Xu; Friedhelm Hildebrandt
Journal:  Am J Hum Genet       Date:  2007-02-22       Impact factor: 11.025

6.  Negative regulation of endothelin signaling by SIX1 is required for proper maxillary development.

Authors:  Andre L P Tavares; Timothy C Cox; Robert M Maxson; Heide L Ford; David E Clouthier
Journal:  Development       Date:  2017-04-28       Impact factor: 6.868

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

Authors:  Aaron N Patrick; Barbara J Schiemann; Kui Yang; Rui Zhao; Heide L Ford
Journal:  J Biol Chem       Date:  2009-06-04       Impact factor: 5.157

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

Authors:  Rainer G Ruf; Pin-Xian Xu; Derek Silvius; Edgar A Otto; Frank Beekmann; Ulla T Muerb; Shrawan Kumar; Thomas J Neuhaus; Markus J Kemper; Richard M Raymond; Patrick D Brophy; Jennifer Berkman; Michael Gattas; Valentine Hyland; Eva-Maria Ruf; Charles Schwartz; Eugene H Chang; Richard J H Smith; Constantine A Stratakis; Dominique Weil; Christine Petit; Friedhelm Hildebrandt
Journal:  Proc Natl Acad Sci U S A       Date:  2004-05-12       Impact factor: 11.205

9.  SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tract.

Authors:  Susanna Negrisolo; Sonia Centi; Elisa Benetti; Giulia Ghirardo; Manuela Della Vella; Luisa Murer; Lina Artifoni
Journal:  J Nephrol       Date:  2014-06-05       Impact factor: 3.902

10.  Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome.

Authors:  Hui Ram Kim; Mee Hyun Song; Min-A Kim; Ye-Ri Kim; Kyu-Yup Lee; Jong Kyung Sonn; Jaetae Lee; Jae Young Choi; Un-Kyung Kim
Journal:  Mol Biol Rep       Date:  2014-03-04       Impact factor: 2.316
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