Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects

scientific article

Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode2012PLoSO...751065S
P356DOI10.1371/JOURNAL.PONE.0051065
P932PMC publication ID3511360
P698PubMed publication ID23226461
P5875ResearchGate publication ID233889075

P50authorKaren SteelQ15109532
P2093author name stringJean-Louis Guénet
Amy E Kiernan
Sarah Spiden
Selina Pearson
Beatriz Lorente-Cánovas
Georg Steffes
Rachael H Brooker
P2860cites workAnalysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT MethodQ25938999
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Influence of the Neural Tube on the Differentiation of the Inner Ear in the Mammalian EmbryoQ58975730
Netrin 1 is required for semicircular canal formation in the mouse inner earQ73400617
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THE ORIGIN OF THE ABNORMALITIES OF THE INNER EAR IN DREHER MICEQ77179047
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The human LMX1B gene: transcription unit, promoter, and pathogenic mutationsQ28289050
Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant miceQ28505685
SOX7 and GATA-4 are competitive activators of Fgf-3 transcriptionQ28508654
Pax2 contributes to inner ear patterning and optic nerve trajectoryQ28511597
Inner ear and maternal reproductive defects in mice lacking the Hmx3 homeobox geneQ28511865
Mutation at the Lmx1a locus provokes aberrant brain development in the ratQ28582055
Analysis of Netrin 1 receptors during inner ear developmentQ28585341
Hmx2 homeobox gene control of murine vestibular morphogenesisQ28587250
Cytoarchitectonic abnormalities in hippocampal formation and cerebellum of dreher mutant mouseQ28592158
Fgf9 signaling regulates inner ear morphogenesis through epithelial-mesenchymal interactionsQ28592897
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Failure of Fluid Absorption in the Endolymphatic Sac Initiates Cochlear Enlargement that Leads to Deafness in Mice Lacking Pendrin ExpressionQ33754592
Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrinQ33851694
Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch miceQ35840689
Lmx1a maintains proper neurogenic, sensory, and non-sensory domains in the mammalian inner ear.Q36105113
Wnt signaling promotes neuronal differentiation from mesenchymal stem cells through activation of Tlx3Q36884741
Lmx1a is required for segregation of sensory epithelia and normal ear histogenesis and morphogenesisQ37124994
Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate developmentQ37394866
The paintfill method as a tool for analyzing the three-dimensional structure of the inner ear.Q38468893
Homeosis in the mouse induced by a null mutation in the Hox-3.1 geneQ41628468
The abnormal distribution of mossy fiber bundles and morphological abnormalities in hippocampal formation of dreher(J) (dr(J)/dr(J))mouseQ42525070
A BMP-inducible gene, dlx5, regulates osteoblast differentiation and mesoderm inductionQ42818472
Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1.Q43435241
The mouse Dreher gene Lmx1a controls formation of the roof plate in the vertebrate CNS.Q47881745
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A novel NK-related mouse homeobox gene: expression in central and peripheral nervous structures during embryonic developmentQ48084820
Postnatal development of brain and behavior of shaker short-tail miceQ48131107
Molecular definition of an allelic series of mutations disrupting the mouse Lmx1a (dreher) geneQ48404995
Expression of the LIM-homeodomain gene Lmx1a (dreher) during development of the mouse nervous systemQ48480010
Lmx1a and lmx1b function cooperatively to regulate proliferation, specification, and differentiation of midbrain dopaminergic progenitors.Q48924532
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue11
P407language of work or nameEnglishQ1860
P921main subjectdeafnessQ12133
P304page(s)e51065
P577publication date2012-11-30
P1433published inPLOS OneQ564954
P1476titleMutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects
P478volume7

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cites work (P2860)
Q91455609A spontaneous mouse deletion in Mctp1 uncovers a long-range cis-regulatory region crucial for NR2F1 function during inner ear development
Q89414323A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment
Q38622890Cell fate determination, neuronal maintenance and disease state: The emerging role of transcription factors Lmx1a and Lmx1b
Q27302948Fgf10 is required for specification of non-sensory regions of the cochlear epithelium.
Q55256199Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Q98719356Novel genotype-phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss
Q47153869Shaping of inner ear sensory organs through antagonistic interactions between Notch signalling and Lmx1a
Q92400871The diagnostic performance of serum LIM homeobox transcription factor 1 alpha in patients with gastric cancer
Q88541625Understanding Molecular Evolution and Development of the Organ of Corti Can Provide Clues for Hearing Restoration

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