Back to Results
First PageMeta Content
Medicine / Health / SIX1 / EYA1 / Syndromes / Branchio-oto-renal syndrome / Pax genes / Mutation / Potter sequence / Biology / Transcription factors / Nephrology


SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes Rainer G. Rufa,b,c, Pin-Xian Xuc,d,e, Derek Silviusd, Edgar A. Ottoa, Frank Beekmanna, Ulla T. Muerba, Shrawan Kumarf, Thomas
Add to Reading List

Document Date: 2008-07-21 09:49:09


Open Document

File Size: 597,44 KB

Share Result on Facebook

City

Nurnberg / Greenwood / Bellman / Paris / Iowa City / Zurich / Omaha / Cambridge / Plainview / /

Company

RCH Foundation Laboratory / GenBank / Macmillan / /

Country

Switzerland / Germany / United States / Australia / United Kingdom / /

Currency

pence / /

/

Event

Product Issues / /

Facility

Boys Town National Research Hospital / University of Iowa / Greenwood Genetic Center / National Institute of Child Health / iMolecular Genetics Laboratory / J. C. Self Research Institute / University Children’s Hospital / Royal Children’s Hospital / Children’s Hospital / Hospital Research Foundation / Van Camp / dMcLaughlin Institute / University of Michigan / National Institute of Dental / /

IndustryTerm

genetic network / gene products / gene product / branchial arch systems / /

MedicalCondition

BOR syndrome / progressive renal failure / congenital abnormalities / chronic renal failure / BOR兾BO syndrome / deafness / bilateral branchial cysts / cup ear deformity / either sensorineural deafness / BO syndrome / late-onset deafness / hearing loss / otic and renal developmental diseases / vesico-ureteral reflux / comprised hearing loss / branchio-otic syndrome / autosomal dominant developmental disorder / disease / gene causing BOR兾BO syndrome / mixed deafness / branchio-oto-renal syndrome / profound deafness / renal carcinoma / non-syndromic hearing loss / related disorder / Branchiootic syndrome / human EYA1 cause BOR兾BO syndrome / syndrome / branchial cysts / /

OperatingSystem

XP / /

Organization

J. C. Self Research Institute / Department of Otolaryngology / Boys Town National Research Hospital / Royal Children’s Hospital / National Institute of Dental and Craniofacial Research Grant / University of Michigan / Ann Arbor / German Research Foundation / Stanford University School of Medicine / Institut National / University Children’s Hospital / National Academy of Sciences / dMcLaughlin Institute for Biomedical Sciences / Cold Spring Harbor Lab. / Center for Hereditary and Communication Disorders / hQueensland Clinical Genetics Service / bUniversity Children’s Hospital / University of Iowa / Greenwood Genetic Center / Stanford / Royal Children’s Hospital Research Foundation / National Institute of Child Health and Human Development / /

Person

Eugene H. Changk / Richard M. Raymond / Jr. / Christine Petitm / Dominique Weilm / Charles Schwartzj / Constantine A. Stratakisl / Xian Xuc / Friedhelm Hildebrandta / Nat / Patrick D. Brophya / Edgar A. Ottoa / Richard J. H. Smithk / Jennifer Berkmanh / Valentine Hylandi / Michael Gattash / Irving L. Weissman / Ulla T. Muerba / Rockville / Rainer G. Rufa / Frank Beekmanna / Derek Silviusd / Markus J. Kemperg / Eva-Maria Rufa / Thomas J. Neuhausg / /

Position

myogenin luciferase reporter / myogenin reporter / Abolish Reporter / reporter / /

Product

mice / /

ProvinceOrState

Nebraska / S.K. / Maryland / North Dakota / Michigan / Montana / South Carolina / Iowa / /

PublishedMedium

Endocrinology / /

Technology

Directed Mutagenesis / Cloning / DNA binding / apoptosis / Clontech protocols / gene expression / genotype / /

URL

www.pnas.org兾cgi兾doi兾10.1073兾pnas.0308475101 / /

SocialTag