SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
about
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutationsSIX2 and BMP4 mutations associate with anomalous kidney developmentMutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter DevelopmentTranscription factor SIX5 is mutated in patients with branchio-oto-renal syndromeThe retinal determination gene network: from developmental regulator to cancer therapeutic targetSingle-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humansLower urinary tract development and diseaseStructure-function analyses of the human SIX1–EYA2 complex reveal insights into metastasis and BOR syndromeTranscriptional regulation of cranial sensory placode developmentThe DACH/EYA/SIX gene network and its role in tumor initiation and progressionEya 1 acts as a critical regulator for specifying the metanephric mesenchymeEYA1 and SIX1 drive the neuronal developmental program in cooperation with the SWI/SNF chromatin-remodeling complex and SOX2 in the mammalian inner earSIX1 acts synergistically with TBX18 in mediating ureteral smooth muscle formation.Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome.Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial developmentEya1 and Six1 are essential for early steps of sensory neurogenesis in mammalian cranial placodesJxc1/Sobp, encoding a nuclear zinc finger protein, is critical for cochlear growth, cell fate, and patterning of the organ of cortiSix1 regulates Grem1 expression in the metanephric mesenchyme to initiate branching morphogenesisVesico-ureteric reflux and urinary tract development in the Pax2 1Neu+/- mouseEya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner earPatterning of the third pharyngeal pouch into thymus/parathyroid by Six and Eya1A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesisTissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients.Using Xenopus to discover new genes involved in branchiootorenal spectrum disordersThe sine oculis homeobox (SIX) family of transcription factors as regulators of development and diseaseAllosteric inhibitors of the Eya2 phosphatase are selective and inhibit Eya2-mediated cell migration.Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.Balancing cell numbers during organogenesis: Six1a differentially affects neurons and sensory hair cells in the inner ear.Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.A systems-level approach reveals new gene regulatory modules in the developing earSix1 is a key regulator of the developmental and evolutionary architecture of sensory neurons in craniatesGenetic kidney diseases.Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.Genome-wide DNA binding pattern of the homeodomain transcription factor Sine oculis (So) in the developing eye of Drosophila melanogaster.Six and Eya promote apoptosis through direct transcriptional activation of the proapoptotic BH3-only gene egl-1 in Caenorhabditis elegans.Cooperation between myogenic regulatory factors and SIX family transcription factors is important for myoblast differentiationIdentification of a selective small-molecule inhibitor series targeting the eyes absent 2 (Eya2) phosphatase activity.Exploring the genetic basis of early-onset chronic kidney disease.Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing studyRenal hypoplasia: lessons from Pax2.
P2860
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
P248
Q24317065-2ECB5A46-AA5E-4250-9CF2-12DDBF5E9FFBQ24318341-45B3EF16-4A20-442F-98AD-B222344C90A0Q24338673-EB5B6F4D-7AF3-4B20-91C5-58E83330BF63Q24682920-0751689F-5D96-420A-95DB-530B905ACA7CQ26747218-1134587D-EB7B-4AD4-BE46-CAEDD84679A1Q26862475-2D6A8332-CE25-4D6C-943F-074160C3E67CQ27000375-601D52A2-DFC2-4AAC-BD9A-7310D15810ECQ27676610-CB1F9747-12B9-45F4-8930-3484220C54D2Q28081644-7EA8DEC4-EE47-487D-A5A6-F53445704534Q28263832-BE44617E-39AD-4C69-B38C-AAA7E6593E4AQ28504972-D71C856E-BD5C-4BBB-AA58-B76FB7DAC810Q28505753-30BC4D8F-7A62-487D-98A6-5C6646C47AE0Q28506036-340F32D6-FB58-4158-83DC-9731D008388EQ28506861-7FDDC236-741E-469F-9511-789E2F4645ABQ28507467-E1E6265B-161F-49CB-B8D7-A007CB055437Q28508554-87BB9FFA-2C4A-455F-8C0B-E58F8C63E9A0Q28510448-B80903BB-CCA8-4ABB-88B4-36E645F8FA6DQ28512287-EE48FAF8-DF02-45A0-80A2-B8283062A723Q28584800-08B1C259-02CB-42B0-A825-1023973EC548Q28585081-8F6B2EFC-8020-4AA5-A9E2-A4A54FC5B991Q28586633-A0653E1A-BE02-47DC-9505-FABBD11297D1Q28589314-0A9FEB2F-8247-4A4B-8204-91F9340FF7F8Q28592076-A358BB00-AE35-4D5B-8D56-F03A1EC7D078Q28607001-F19E753C-64B0-4268-AD7F-D79AF0E439BFQ28752140-20FE25D7-2B88-41DB-8631-FADAD3D0928DQ30409822-ABE92DF1-01F2-4BFE-9129-331313712D59Q30411422-16FD6E34-31DD-4437-A93C-34A9AED08BAEQ30425138-AAC3E7A9-FDED-44BC-A2CE-D257694608E4Q30668630-14C6CA64-EA1A-4647-BAFB-49AFA5CE482BQ33588427-4FF996AF-ADAD-4BCD-8326-2B39D82DFA8EQ33855467-D77CE66A-30AF-4FF3-BECA-32955328BB00Q33968487-EE63B4E4-C348-4905-B855-A9D45A5D0388Q34021354-8F3997EF-AACF-41F2-A0FF-62C1BD5F4815Q34026749-FE1CC03D-9ADE-4E5A-B8BA-05F668F1D66BQ34100473-4CB65230-6D3A-4548-A67B-987997727539Q34298160-AFBB4A17-8726-4A14-A235-F4BA30CD1884Q34347238-9711D6ED-E228-484B-97B6-B34CDF20FFD6Q34508359-9139134F-244D-4B4F-95F1-F8A192AC485AQ34508656-C538C8A2-BF62-4642-A538-2158127B11CEQ34562397-E8EBFB63-FD7D-4A2F-BEE7-6E9CF839EC24
P2860
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
description
2004 nî lūn-bûn
@nan
2004 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
@ast
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
@en
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
@en-gb
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
@nl
type
label
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
@ast
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
@en
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
@en-gb
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
@nl
prefLabel
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
@ast
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
@en
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
@en-gb
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
@nl
P2093
P2860
P50
P921
P3181
P356
P1476
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
@en
P2093
Charles Schwartz
Constantine A Stratakis
Derek Silvius
Dominique Weil
Eugene H Chang
Eva-Maria Ruf
Frank Beekmann
Jennifer Berkman
Markus J Kemper
Michael Gattas
P2860
P304
P3181
P356
10.1073/PNAS.0308475101
P407
P577
2004-05-25T00:00:00Z