An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice

scientific article

An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/S00335-004-2334-Z
P698PubMed publication ID15181535
P5875ResearchGate publication ID8524497

P50authorKaren SteelQ15109532
Ruth Asehry-PadanQ19749301
Martin Hrabě de AngelisQ28606776
Nadav AhituvQ37374381
Karen AvrahamQ56704862
P2093author name stringHelmut Fuchs
Alexandra Erven
Trevor Williams
Keren Guy
P2860cites workNovel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlationQ24291566
Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activatorQ24291867
The WW domain of Yes-associated protein binds a proline-rich ligand that differs from the consensus established for Src homology 3-binding modulesQ24323939
Identification of novel human WW domain-containing proteins by cloning of ligand targetsQ24336090
The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferencesQ24337025
A WW domain-containing yes-associated protein (YAP) is a novel transcriptional co-activatorQ24534123
The coactivator p15 (PC4) initiates transcriptional activation during TFIIA-TFIID-promoter complex formationQ24598984
Regulatory roles of AP-2 transcription factors in vertebrate development, apoptosis and cell-cycle controlQ28141560
Human CREB-binding protein/p300-interacting transactivator with ED-rich tail (CITED) 4, a new member of the CITED family, functions as a co-activator for transcription factor AP-2Q28211366
Analysis of the DNA-binding and activation properties of the human transcription factor AP-2Q28271397
Cloning and characterization of a novel mouse AP-2 transcription factor, AP-2delta, with unique DNA binding and transactivation propertiesQ28510687
Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formationQ28511870
Transcription factor AP-2 essential for cranial closure and craniofacial developmentQ28513302
AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric miceQ28586197
AP-2alpha transcription factor is required for early morphogenesis of the lens vesicleQ28587027
Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eyeQ28589877
Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2Q28594321
The WW domain: linking cell signalling to the membrane cytoskeletonQ30167655
Transcription factor AP-2 is expressed in neural crest cell lineages during mouse embryogenesisQ33515610
Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reportsQ33681169
The Sharpening of cochlear frequency selectivity in the normal and abnormal cochleaQ33954764
Coactivator PC4 mediates AP-2 transcriptional activity and suppresses ras-induced transformation dependent on AP-2 transcriptional interferenceQ33957311
Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skullQ34195193
Transcriptional dysregulation in skeletal malformation syndromesQ34561444
lockjaw encodes a zebrafish tfap2a required for early neural crest development.Q38349455
Embryological and genetic aspects of middle ear development.Q41718944
Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1.Q43435241
Genome-wide, large-scale production of mutant mice by ENU mutagenesis.Q43520565
ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesisQ43937639
A family of AP-2 proteins regulates c-erbB-2 expression in mammary carcinomaQ45345481
Tailchaser (Tlc): a new mouse mutation affecting hair bundle differentiation and hair cell survival.Q50495456
Hearing in chronic suppurative otitis media.Q50558534
Characterization of the activation domains of AP-2 family transcription factors.Q52580795
P433issue6
P1104number of pages9
P304page(s)424-432
P577publication date2004-06-01
P1433published inMammalian GenomeQ1348949
P1476titleAn ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice
P478volume15

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cites work (P2860)
Q36927177A new mouse mutant for the LDL receptor identified using ENU mutagenesis
Q37045093Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain
Q40982938Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population
Q42909559Characterization of ENU-mutant mice. Animal models for human diseases using morphological and molecular methods
Q49830752Genome-wide mapping of global-to-local genetic effects on human facial shape.
Q28592776Identification and analysis of a conserved Tcfap2a intronic enhancer element required for expression in facial and limb bud mesenchyme
Q50894494Neurobehavioral mutants identified in an ENU-mutagenesis project.
Q33837382Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.
Q34876963Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators
Q48081611Spectrum of ENU-induced mutations in phenotype-driven and gene-driven screens in the mouse.
Q24655671TFAP2A mutations result in branchio-oculo-facial syndrome
Q46839098The Tennessee Mouse Genome Consortium: identification of ocular mutants

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